abasia abetalipoproteinemia ablepharon aboulia abouphalia abscess abulia acanthocyte acanthocytes acanthocytosis acanthocyturia acantholysis acanthoma acanthosis aceruloplasminaemia aceruloplasminemia acetonuria achalasia acheiria achlorhydria acholia achromasia achromatopsia acidemia acidosis aciduria acne acrania acrobrachycephaly acrocephaly acrochorda acrocyanosis acrokeratosis acromegaly acromelia acromesomelia acromicria acroosteolysis acroparesthesia adactyly adenohypophysis adenoiditis adermatoglyphia agalactia agammaglobulinaemia agammaglobulinemia ageusia aggression aggressiveness agitation aglossia agnathia agnosia agonadism agoraphobia agranulocytosis agraphesthesia agyria ainhum akathisia akinesia alacrima alaninuria albinism albuminuria alcoholism alexia alexithymia alkalemia alkalosis allergy allodynia alopecia amblyopia amegl amelia amenorrhea amimia aminoaciduria amol amyelia amyloidosis amyoplasia amyotrophy anaemia anaphylaxis anarthria anasarca anejaculation anemia anencephaly anetoderma aneurysm aneurysms angiitis angioblastoma angioedema angiofibromas angiokeratoma angiokeratomas angiomyolipoma angiooedema angiosarcoma angiospasm anhedonia anhidrosis anhydrosis aniridia anisocoria anisocytosis anisometropia anisopoikilocytosis anisospondyly ankyloblepharon ankyloglossia ankylosis anodontia anomia anonychia anophthalmia anorchism anorexia anorgasmia anosmia anotia anthracosis anuria anxiety anxiousness apallesthesia apathy aphalangy aphallia aphasia aphonia apnea apnoea apodia aposthia apraxia apraxias aprosencephaly apudoma arachnodactyly areflexia argininuria arrhinencephaly arrhinia arrhythmia arrhythmias arteriosclerosis arteritis arthralgia arthralgias arthritis arthrogryposis arthropathy ascites asparaginuria aspartylglucosaminuria aspiration asplenia astasia astereognosia astereognosis asterixis asternia asthenia asthenopia asthenospermia asthma astigmatism astrocytoma astrocytosis asynergia ataxia atelectasis athelia atheromatosis atherosclerosis athetosis athymia atransferrinemia atrichia autism autoagression autoamputation autoimmunity azoospermia azotaemia azotemia bacteremia bacteriuria baldness ballismus basalioma basophilia bcgiosis bcgitis bcgosis bedsore bicarbonaturia bilirubinuria birthmark blackhead blepharitis blepharochalasis blepharoclonus blepharophimosis blepharoptosis blepharospasm blindness blister blisters bloating blushing boil borborygmi brachycardia brachycephaly brachydactyly brachymesophalangy brachymetacarpalia brachytelephalangy brachytelomesophalangy brachytelophalangy brachyturricephaly bradycardia bradykinesia bradyopsia bradyphrenia bradypnea braindruse bromhidrosis bromidrosis bronchiectasis bronchiolectasia bronchiolectasis bronchiolitis bronchitis bronchocele bronchoconstriction bronchodysplasia broncholith bronchomalacia bronchomegaly bronchospasm bruisability bruxism bulimia bunion buphthalmos bursitis cachexia calcaneovalgus calcinosis caliectasis camptocormia camptodactyly camptomelia cancer carbuncle carcinoid carcinoma cardiomegaly cardiomyopathy caries carnitinuria carnosinuria cataplexy cataract cataracts cctga cellulitis celosomia cementoma cephalocele cephalohaematoma cephalohematoma ceruminoma cervicitis chalazion chalazoderma cheilitis chemodectoma chemodectomas chemosis chilblain chilblains chill chills chloasma cholangiocarcinoma cholangitis cholecystitis cholelithiasis cholestasis cholesteatoma chondritis chondroblastoma chondrocalcinosis chondrosarcoma chorangioma chordee chordoma chorea choreoathetosis choriocarcinoma chorioretinitis choroideremia choroiditis chylopericardium chyloperitoneum chylothorax cirrhosis citrullinuria claustrophobia clinodactyly clitoromegaly clonus club clubbing clubfeet clubfoot clumsiness coagulopathy coccidioidomycosis coldness colitis collectionism coloboma colpocephaly coma comedo confusion conjunctivitis constipation contracture contractures corectopia costiveness cough coughing cowlick coxalgia crackle crackles craniopharyngioma craniorachischisis craniostenosis craniosynostosis craniosyostosis crepitation crepitations croup cryoglobulinemia cryptophthalmos cryptorchidism cryptorchism cryptospermia cryptotia cryptozoospermia crystalluria cwps cyanosis cyclodeviation cyclophoria cyclopia cyclotropia cylindroma cylindruria cyn cystathioninemia cystathioninuria cystinuria cystocele dacrocystitis dacryocystitis dacryocystocele dacryocytes dacryocytosis deafness degmacytes dehydration delirium delusion delusions dementia demyelination depression depressivity dermatillomania dermatitis dermatochalasia dermatochalasis dermatographism dermatomegaly dermatopathy dermographism dermopathy desquamation deuteranomaly deuteranomoly deuteranopia dextrocardia diaminoaciduria diaphoresis diarrhea diarrhoea diastema diastomatomyelia dibasicaminoaciduria dichromacy dimelia diphallia diplomyelia diplopia disinhibition disorientation distichiasis dizziness dolichocephaly dolichostenomelia dribble dribbling drool drooling dropsy drowsiness drusen duodenitis dwarfism dysaesthesia dysarthria dysautonomia dyscalculia dyschezia dyschromatopsia dysdiadochokinesia dysdiadochokinesis dysesthesia dysesthesias dysfibrinogenaemia dysfibrinogenemia dysgammaglobulinemia dysgerminoma dysgeusia dysgraphia dysgyria dyskinesia dyskinesias dyskinesis dyslexia dyslipidaemia dyslipidemia dysmegakaryopoiesis dysmelia dysmenorrhea dysmetria dyspareunia dyspepsia dysphagia dysphasia dysphonia dysphoria dyspnea dyspnoea dyssynergia dystonia dysuria ecchymoses ecchymosis echolalia echologia echophrasia eclabion eclabium eclampsia ectrodactyly ectropion eczema edema elastolysis elliptocyte elliptocytosis embryotoxon emesis emphysema enanthema encephalocele encephalomalacia encephalopathy enchondroma encopresis endobrachyesophagus endocarditis endometriosis endometritis enophthalmos enterocolitis enteropathy enthesitis entropion enuresis eosinophilia ependymoblastoma ependymoma epiblepharon epicanthus epididymitis epignathus epilepsy epiphora episcleritis epispadias epistaxis equinovarus erysipelas erythema erythroblastopenia erythrocytosis erythroderma erythrodontia erythromelalgia esodeviation esophagitis esophoria esotropia ethmocephaly euphoria euryblepharon exanthem excyclophoria excyclotropia exencephaly exodeviation exophoria exophthalmos exostoses exostosis exotropia exsiccosis exstrophy fall falls farsightedness fasciculation fasciculations fasciitis fatigue ferropenic fever fibrofolliculoma fibrofolliculomas fibroma fibrosarcoma flatulence flush flushing folliculitis footdrop forgetfullness forgetfulness foveoschisis frailty freckle freckling furuncle galactorrhea galactorrhoea galactosemia galactosuria gallstone gallstones ganglioglioma ganglioneuroblastoma ganglioneuroma ganglioneuromatosis gangrene gastritis gastroparesis gastroschisis gemination geniospasm geophagia geophagy germinoma gerontoxon gigantomastia gingivitis gingivorrhagia gingivostomatitis glaucoma glioblastoma glioma gliosis globozoospermia glomerulomegaly glomerulonephritis glomerulopathy glomerulosclerosis glossitis glossoptosis glucagonoma glucosuria glutaminuria glutaricaciduria glycinuria glycopeptiduria glycosuria goiter goitre gonadoblastoma gout granulocytopenia granulocytosis granuloma granulomatosis gynaecomastia gynecomastia haemangioblastoma haematocolpos haemobilia haemoptysis haemorrhoid haemorrhoids halitosis hallucination hallucinations hamartoma hammertoe hammertoes harelip hayfever headache headaches headlag heartburn hemangioblastoma hemangioma hemangiomata hemangiomatosis hemarthroses hemarthrosis hematemesis hematochezia hematocolpos hematoperitoneum hematuria hemeralopia hemianopia hemianopsia hemiareflexia hemiatrophy hemiballismus hemidystonia hemihypertrophy hemihypsarrhythmia hemimacroglossia hemimegalencephaly hemiparesis hemiplegia hemisacrum hemitruncus hemivertebra hemivertebrae hemobilia hemoglobinuria hemopericardium hemoperitoneum hemophagocytosis hemoptysis hemorrhoid hemorrhoids hemosiderinuria hemothorax hepatitis hepatoblastoma hepatomegaly hepatopathy hepatosplenomegaly hernia hernias heterophoria heterotaxia heterotaxy heterotopia heterotopias heterotropia hiccup hiccups hirsutism histidinemia histidinuria histiocytoma histiocytosis histoplasmosis hive hives hoarseness holoprosencephaly homocystinemia homocystinuria honeycomb honeycombing hordeolum hostility hulseyism hyalitis hydramnios hydrancephaly hydranencephaly hydrocele hydrocephalus hydrocephaly hydrocolpos hydrometrocolpos hydromyelia hydronephrosis hydrophobia hydrops hydroureter hydroxylysinuria hydroxyprolinemia hydroxyprolinuria hypacusis hyperactivity hyperacusis hyperaesthesia hyperalaninemia hyperalbuminaemia hyperalbuminemia hyperaldosteronism hyperalgesia hyperalphalipoproteinemia hyperaminoaciduria hyperammonemia hyperamylasemia hyperapobetalipoproteinemia hyperargininemia hyperasparaginemia hyperbetaalaninemia hyperbetalipoproteinemia hyperbilirubinemia hypercalcaemia hypercalcemia hypercalcinuria hypercalciuria hypercapnia hypercarbia hypercementosis hyperchloremia hyperchloriduria hypercholesterolemia hyperchylomicronemia hypercitraturia hypercoagulability hypercortisolism hypercupremia hypercystinemia hypercytokinemia hyperdeviation hyperdontia hyperekplexia hypereosinophilia hyperesthesia hyperferritinaemia hyperferritinemia hyperfibrinogenemia hyperfibrinolysis hypergalactosemia hypergammaglobulinaemia hypergammaglobulinemia hypergastrinemia hyperglobulinemia hyperglutamatemia hyperglutaminemia hyperglutaminuria hyperglycemia hyperglycerolemia hyperglycinaemia hyperglycinemia hyperglycinuria hyperglycorrhachia hypergranulosis hyperhidrosis hyperhistidinemia hyperhomocystinemia hyperimidodipeptiduria hyperinsulinemia hyperisoleucinemia hyperisoleucinuria hyperkalemia hyperkaliuresis hyperkeratosis hyperketonemia hyperketosis hyperkinesia hyperkinesis hyperkyphosis hyperlactatorachia hyperlacticacidemia hyperlaxity hyperleucinemia hyperlipidemia hyperlipoproteinemia hyperlordosis hyperlysinemia hyperlysinuria hypermagnesemia hypermagnesiuria hypermanganesemia hypermenorrhea hypermethioninemia hypermetropia hypernatremia hypernatriuria hypernephroma hyperopia hyperoralia hyperorality hyperornithinemia hyperosthenuria hyperostosis hyperoxaluria hyperoxemia hyperparakeratosis hyperparathyroidism hyperpathia hyperperistalsis hyperphagia hyperphenylalaninemia hyperphoria hyperphosphatasemia hyperphosphatasia hyperphosphatemia hyperphosphaturia hyperpituitarism hyperprolactinaemia hyperprolactinemia hyperprolinemia hyperprostaglandinuria hyperproteinemia hyperproteinorrhachia hyperpyrexia hyperreflexia hyperreninemia hypersalivation hypersarcosinemia hypersarcosinuria hypersensitivity hyperserinemia hypersexuality hypersomnia hypersplenism hypertaurinemia hypertelorism hypertension hyperthermia hyperthreoninemia hyperthreoninuria hyperthyroidism hypertonia hypertonicity hypertrichosis hypertriglyceridemia hypertropia hypertryptophanemia hypertyrosinemia hyperuricaemia hyperuricemia hyperuricosuria hypervalinemia hyperventilation hypervolemia hyperxanthinemia hyperzincemia hyphema hypoacusis hypoadrenalism hypoaesthesia hypoalaninemia hypoalbuminaemia hypoalbuminemia hypoaldosteronism hypoalphalipoproteinemia hypoammonemia hypoamylasemia hypoandrogenism hypoargininemia hypoasparaginemia hypobetalipoproteinemia hypobilirubinemia hypocalcaemia hypocalcemia hypocalciuria hypocapnia hypocarbia hypoceruloplasminaemia hypoceruloplasminemia hypochloremia hypochloriduria hypocholesterolemia hypochromia hypochylomicronemia hypocitraturia hypocortisolemia hypocortisolism hypocupremia hypocystinemia hypodeviation hypodipsia hypodontia hypoesthesia hypofibrinogenemia hypogammaglobulinemia hypoganglionosis hypogenitalism hypogeusia hypoglossia hypoglutamatemia hypoglutaminemia hypoglycaemia hypoglycemia hypoglycinemia hypoglycorrhachia hypogonadism hypohidrosis hypohistidinemia hypoinsulinemia hypoisoleucinemia hypokalemia hypokaliuria hypokaluria hypokinesia hypolactatorachia hypoleucinemia hypolipidemia hypolipoproteinemia hypolysinemia hypomagnesemia hypomagnesiuria hypomanganesemia hypomethioninemia hypomimia hypomyelination hyponatremia hyponatriuria hypoornithinemia hypopallesthesia hypoparathyroidism hypoperistalsis hypophenylalaninemia hypophonia hypophoria hypophosphataemia hypophosphatemia hypophosphaturia hypopigmentation hypopituitarism hypoplasminogenemia hypopnea hypoprolinemia hypoproteinemia hypoproteinorrhachia hypopyon hyporeflexia hyposerinemia hyposmia hypospadia hypospadias hyposthenuria hypotaurinemia hypotelorism hypotension hypothermia hypothreoninemia hypothyroidism hypotonia hypotrichosis hypotriglyceridemia hypotropia hypotryptophanemia hypotyrosinemia hypouricemia hypovalinemia hypoventilation hypovolemia hypoxemia hypoxia hypsarrhythmia ichthyosis icterus ileitis ileus imbalance imidodipeptiduria immunodeficiency impotence impulsive impulsivity incoordination incyclophoria incyclotropia indigestion inertia infertility insomnia insulinoma intoe intussusception iridocele iridocyclitis iridodonesis iritis irritability irritable isoleucinuria isomerism isothenuria isovalericacidemia itch itching jaundice jejunitis jerking keloid keloids kelosomia keratitis keratoacanthoma keratoconjunctivitis keratoconus keratoglobus kernicterus ketoacidosis ketoaciduria ketonaciduria ketonemia ketonuria ketosis kinesiophobia kleeblattschaedel koilonychia kyphoscoliosis kyphosis lacticacidemia lacticacidosis lacticaciduria lagopthalmos laryngitis laryngomalacia laryngospasm laryngotracheomalacia leiomyosarcoma lenticonus lentiglobus lethargy leucinuria leukaemia leukemia leukoaraiosis leukocoria leukocytosis leukocyturia leukodystrophy leukoencephalopathy leukokeratosis leukokoria leukonychia leukopenia lichenification limp lipedema lipiduria lipoatrophy lipodystrophy lipogranulomatosis lipoma lipomas lipomatosis lipomeningocele lipomyelomeningocele liposarcoma lissencephaly lithoptysis livedo lockjaw loosejointedness lordosis loxia lunatomalacia lymphadenitis lymphadenopathy lymphangiectasia lymphangiectasis lymphangioleiomyomatosis lymphangioma lymphedema lymphocytopenia lymphocytosis lymphoedema lymphoma lymphopenia lysinuria maceration macrencephaly macrocephaly macrocornea macrocrania macrodactyly macrodontia macroglossia macrogyria macromandible macromastia macromelanosomes macroorchidism macroprolactinoma macrosomia macrostomia macrothrombocytopenia macrothrombozytopenia macrotia macule malabsorption malaise malakoplakia malnutrition malocclusion malrotation mania manic mastocytosis mastoiditis medulloblastoma medulloepithelioma megacalicosis megacephaly megacolon megacystis megaduodenum megakaryocytopenia megalencephaly megalocornea megalodactyly megalodontia megalophthalmos megamitochondria megarectum megaureter melanoderma melanodermia melanoma melanonychia melasma melena melotia meningioma meningism meningitis meningocele meningoencephalocele meningomyelocele menometrorrhagia menorrhagia meromelia mesangiolysis mesiodens mesiodentes mesocardia mesomelia metamorphopsia methemoglobinemia methioninemia methioninuria methymalonicaciduria metrorrhagia microalbuminuria microblepharia microcephaly microcolon microcoria microcornea microcytosis microdontia microface microfacies microfontanelle microgastria microglossia micrognathia micrographia microhematuria microlissencephaly micromandible micromaxilla micromelia micropenis microphakia microphallus microphthalmia microphthalmos microprolactinoma microretrognathia microspherocytosis microspherophakia microstomia microtia microtropia migraine milia milium milphosis miosis miscarriage misophonia mole monilethrix monobrow monochromacy monocytopenia monocytosis mononeuropathy monorchidism monorchism morphea mucopolysacchariduria muteness mutism myalgia myalgias myasthenia mydriasis myelitis myelocystocele myelodysplasia myelofibrosis myelokathexis myelomeningocele myelopathy myeloschisis myocarditis myoclonus myodeopsia myodesopsia myofibromatosis myoglobinuria myokymia myopathy myopia myositis myotonia naevi naevus nanophthalmos narcolepsy nausea nearsightedness negativism neoplasia neoplasm nephritis nephroblastoma nephroblastomatosis nephrocalcinosis nephrolithiasis nephromegaly nephronophthisis nephropathy nephroptosis nephrosclerosis nephrosis neuralgia neurilemmoma neurinoma neuritis neuroblastoma neurocytoma neurodegeneration neurofibroma neurofibromas neurofibromata neurofibromatosis neurofibrosarcoma neuroinflammation neurolemmoma neuroma neuropathy neurosarcoma neutropenia neutrophilia neutropoenia nevi nevus nitrituria nocturia nonverbal nosebleed numbness nyctalopia nycturia nystagmus obesity ochronosis odontodysplasia odontoma odontomas odynophagia oedema oesophagitis oligoarthritis oligodactyly oligodendroglioma oligodontia oligohidrosis oligohydramnios oligomenorrhea oligonephronia oligosacchariduria oligospermia oliguria omphalitis omphalocele omphalocoele oncholysis oncology onychauxis onychodysplasia onychodystrophy onychogryposis onycholysis onychomadesis onychomycosis onychophagia onychophagy onychotillomania oophoritis ophthalmoparesis ophthalmoplegia opisthotonos opisthotonus opsoclonus orchitis ornithinuria oroticaciduria orthodeoxia orthokeratosis orthopnea osmidrosis osteoarthritis osteoblastoma osteochondroma osteochondromas osteochondronecrosis osteochondrosis osteolysis osteoma osteomalacia osteomatosis osteomyelitis osteonecrosis osteopaenia osteopenia osteopetrosis osteopoikilosis osteoporosis osteosarcoma osteosclerosis otalgia otosclerosis ovalocytes ovalocytosis overbite overfriendliness overgrowth overjet oversalivation overweight ovotestis oxycephaly pac pachydermia pachygyria pacs pain palatoschisis paleness palilalia pallor palpitation palpitations pancolitis pancreatitis pancreatoblastoma pancytopaenia pancytopenia panhypogammaglobulinemia panhypopituitarism panniculitis pansynostosis pant panting panuveitis panypogammaglobulinemia papilledema papilloma papule papules paraganglioma paragangliomas parageusia parakeratosis paralysis paranoia paraparesis paraphimosis paraplegia paraproteinemia parasomnia paresthesia paresthesias parkinsonism paronychia parosmia parotitis pericarditis perifolliculitis perinephritis periodontitis periostalgia periostitis periostosis peritonitis peromelia perseveration petechia petechiae phacodonesis phakodonesis phantageusia phantosmia pharyngalgia pharyngitis pharyngodynia phenylalaninuria pheochromocytoma phimosis phocomelia phonophobia phosphaturia phosphoethanolaminuria phosphohydroxylysinuria photodysphoria photophobia photopsia photosensitivity pica piebaldism pile piles pilomatrixoma pimple pinealoblastoma pinealoma pineoblastoma pineocytoma pinguecula pituicytoma plagiocephaly plasmacytoma plasmacytosis plasmocytoma platonychia platybasia platypnea platyspondyly platystencephaly plethora pleurisy pleuritis pleuroma pneumomediastinum pneumonia pneumothorax podagra poikilocytosis poikiloderma poliosis pollakisuria polycalycosis polychromasia polycoria polycythemia polydactyly polydipsia polyembolokoilamania polyglobulia polyhydramnios polymelia polymenorrhea polymicrogyria polyminimyoclonus polyneuritis polyneuropathy polyorchidism polyotia polyphagia polypnea polysplenia polyuria porokeratosis poroma porphyrinuria preeclampsia preexcitation presbycusis presyncope priapism primapterinuria proboscis prognathia prognathism prolactinoma prolinemia prolinuria proptosis prosopagnosia prostatitis protanomaly protanopia proteinuria pruritis pruritus pseudoainhum pseudoaneurysm pseudoanodontia pseudoarthroses pseudoarthrosis pseudocroup pseudoepiphyses pseudoexfoliation pseudohypertriglyceridemia pseudohypoaldosteronism pseudohypoparathyroidism pseudopapilledema pseudophakia pseudoscleroderma pseudoseizure pseudosyndactyly psoriasis psychosis pterygia pterygium ptosis ptyalism pulpoliths punding purpura pustula pustule pustules pustulosis pyelonephritis pyoderma pyorrhea pyothorax pyrexia pyropoikilocytosis pyuria quadriparesis quadriplegia radiculomegaly rale rales ranula rash rectocele restlessness reticulocytopenia reticulocytosis retinitis retinoblastoma retinopathy retinoschisis retrocollis retrogenia retrognathia retromicrognathia rhabdomyolysis rhabdomyoma rhabdomyosarcoma rhinitis rhinorrhea rhizomegaly rhizomelia rhizomicry rhombencephalosynapsis rhonchi rhonchus rickets rigidity rigor rigors rigour rigours rosacea rosette saccharopinuria sacroiliitis sarcoma scaphocephaly scar scarring schistocytes schistocytosis schizencephaly schizophrenia schwannoma schwannomas sciatica scleritis sclerocornea sclerodactyly scleroderma scoliosis scotoma seborrhea seizure seizures sepsis serinuria serositis shiver shivering shock shudder shuddering shyness sialadenitis sialorrhea simultanapraxia sinusitis sirenomelia skewfoot sleepy sneeze snore snores snoring somnambulism spasticity spermatocele spherocytosis splenomegaly spondylitis spondylolisthesis spondylolithesis spondylolysis squawk squawks squint stammer stammering staphyloma steatorrhea steatosis stereotypy stomatitis stomatocytosis strabismus stria striae stridor stroke stutter stuttering suicidality sulfocysteinuria supraocclusion sweat sweating symblepharon sympodia syncope syndactyly synophris synophrys synotia synovitis syringofibroadenoma syringomyelia syrinx tachycardia tachylalia tachylogia tachyphrenia tachypnea talipes taurodont taurodontia taurodontism tear tearfulness tearing telangiectases telangiectasia telecanthus tendonitis tenesmus teninitis teratoma teratospermia teratozoospermia tetany tetraamelia tetraparesis tetraphocomelia tetraplegia thrombasthenia thrombocythaemia thrombocythemia thrombocytopenia thrombocytosis thromboembolism thrombophilia thrombophlebitis thymoma thyroiditis tic tics tingle tingling tinnitus tire tired tiredness titubation tomacula torticollis tracheobronchmegaly tracheobronchomalacia tracheocele tracheomalacia tracheomegaly trachyonychia tremor tremors trichiasis trichilemmoma trichodiscoma trichodysplasia trichoepithelioma tricholemmoma trichotillomania trigonocephaly trimethylaminuria triplomyelia trismus tritanomaly tryptophanuria tumor tumour turribrachycephaly turricephalus turricephaly turridolichocephaly twitch twitching tympanosclerosis tyrosinemia tyrosinuria undergrowth unibrow uraciluria uranostaphyloschisis ureterocele urethritis urethrocele uroureter urticaria uveitis vaginismus vaginitis valinuria varicocele vasculitis vasospasm ventriculomegaly verruca verrucae vertigo viremia visceromegaly vitiligo vitreitis vitreoretinopathy vitritis volvulus vomit vomiting vulvodynia vulvovaginitis wart warts weakness wheeze wheezing whitehead xanthelasma xanthinuria xanthoma xanthomata xanthomatosis xerophthalmia xerosis xerostomia 6 metacarpal 6 metacarpals aa amyloidosis abdomen abnormality abdominal adhesion abdominal adhesions abdominal aura abdominal bloating abdominal colic abdominal cramp abdominal cramps abdominal discomfort abdominal distension abdominal distention abdominal guarding abdominal mass abdominal obesity abdominal pain abdominal protuberance abdominal rigidity abdominal swelling abdominal symptom abducens palsy abduct thumb abducted thumb aberrant thyroid abnormal antehelix abnormal anthelix abnormal antihelix abnormal apoptosis abnormal bleeding abnormal bmi abnormal breathing abnormal ch50 abnormal clavicle abnormal clavicles abnormal collarbone abnormal cry abnormal delivery abnormal dentin abnormal dentition abnormal dermatoglyphic abnormal dermatoglyphics abnormal dlco abnormal earlobe abnormal ecg abnormal echocardiogram abnormal echocardiography abnormal eeg abnormal ejaculation abnormal ekg abnormal electrocardiogram abnormal electroencephalogram abnormal electrooculogram abnormal electroretinogram abnormal electroretinography abnormal emg abnormal eog abnormal erection abnormal erg abnormal esr abnormal eye abnormal eyelash abnormal eyelashes abnormal face abnormal fertility abnormal fingernail abnormal fingernails abnormal fingerprint abnormal fingerprints abnormal gait abnormal gametogenesis abnormal gfr abnormal glycosylation abnormal growth abnormal gyration abnormal haemoglobin abnormal hand abnormal hands abnormal hb abnormal hct abnormal head abnormal hearing abnormal helices abnormal helix abnormal hematocrit abnormal hemoglobin abnormal homeostasis abnormal kco abnormal kidney abnormal kneecap abnormal libido abnormal limb abnormal limbs abnormal lip abnormal liver abnormal lymphocyte abnormal lymphocytes abnormal mch abnormal mchc abnormal mcv abnormal meiosis abnormal metabolism abnormal mouth abnormal myelination abnormal navel abnormal peristalsis abnormal phagocytosis abnormal philtrum abnormal pigmentation abnormal pinna abnormal pinnae abnormal posturing abnormal pt abnormal pulse abnormal reflex abnormal respiration abnormal retina abnormal spermatogenesis abnormal spine abnormal spit abnormal sputum abnormal stereopsis abnormal tailbone abnormal tarsal abnormal tarsals abnormal teeth abnormal thigmesthesia abnormal thrombosis abnormal tlco abnormal tongue abnormal umbilicus abnormal vein abnormal vertebra abnormal vertebrae abnormal walk abolish electroretinogram abolished electroretinogram abruptio placenta abruptio placentae absence seizure absence seizures absent antihelix absent antitragus absent anus absent biceps absent bladder absent breast absent canine absent canines absent cervix absent clavicle absent clavicles absent cochlea absent collarbone absent diaphragm absent ear absent earlobe absent ears absent electroretinogram absent epiglottis absent epiphyses absent epiphysis absent eyebrow absent eyebrows absent eyelash absent eyelashes absent eyelid absent eyelids absent femur absent fibula absent fibulae absent finger absent fingernail absent fingers absent foot absent forearm absent forearms absent foreskin absent fovea absent gallbladder absent hair absent hallux absent hand absent humerus absent iris absent kidney absent kneecap absent lmca absent lung absent lungs absent lunula absent lunulae absent malleus absent mandible absent mastoid absent mastoids absent mesencephalon absent metacarpal absent metacarpals absent molar absent molars absent musculature absent nail absent nails absent nares absent naris absent nipple absent nipples absent nose absent ovary absent pancreas absent patella absent patellae absent patellas absent penis absent pericardium absent pulse absent quad absent quads absent radius absent ray absent reflex absent reflexes absent retina absent rib absent ribs absent sacrum absent scaphoid absent scapula absent scrotum absent shankbone absent shinbone absent speech absent spleen absent stapes absent talus absent tarsal absent tarsals absent testes absent testis absent thighbone absent thumb absent thumbnail absent thumbs absent thymus absent tibia absent toe absent toenail absent toenails absent toes absent tonsil absent tonsils absent tragus absent trapezium absent triceps absent ulna absent ulnae absent uterus absent uvula absent vagina absent vertebra absent vertebrae absent vestibule aca positivity acanthosis nigricans acanthotic epidermis accelerate atherosclerosis accelerated atherosclerosis accesory tragus accessory eyelid accessory fontanelle accessory lunate accessory mamilla accessory mamillas accessory nares accessory naris accessory nipple accessory nipples accessory nostril accessory scaphoid accessory scrotum accessory spleen accessory spleens accessory tragus accommodative esotropia acellular cast acellular casts acephalic spermatozoa acephalic spermatozoon acetabular abnormality acetabular dysplasia acetabular erosion acetabular erosions acetabular hypoplasia acetabular spur acetabular spurs achilles tendonitis acholic stool acholic stools acid reflux acidic urine acinar dysplasia acinetobacter infection acne inversa acoustic neuroma acquire microcephaly acquired microcephaly acral blistering acral enlargement acral hypertrophy acral keratosis acral overgrowth acral ulceration acromegalic growth acromial dimple acrosyringeal adenomatosis acth deficiency acth excess acthr defect actinic keratosis action tremor aculeiform cataract acute abdomen acute bronchitis acute colitis acute constipation acute encephalopathy acute hepatitis acute hyperammonemia acute leukaemia acute leukemia acute leukemias acute pancreatitis acute rhabdomyolysis acute sinusitis addictive behavior addictive behaviour addison disease additional crus additional cusp adduct thumb adducted thumb adducted thumbs adenoid hypertrophy adenoid large adenoids large adenoma sebaceum adherent earlobe adie pupil adipocyte hypertrophy adrenal abnormalities adrenal abnormality adrenal calcification adrenal carcinoma adrenal hyperplasia adrenal hypoplasia adrenal insufficiency adrenal neoplasia adrenal overactivity adrenal pheochromocytoma adrenocortical abnormality adrenocortical adenoma adrenocortical adenomas adrenocortical carcinoma adrenocortical cytomegaly adrenocortical hypoplasia adrenocortical insufficiency adrenogenital syndrome affective aura affective auras affective seizure afferent ataxia aga autoantibodies aga autoantibody aganglionic megacolon aggressive behavior aggressive behaviour agyria diffuse air bronchogram air crescent air trap air trapping airway hemangioma airway hyperresponsiveness airway obstruction akinetic mutism alar cleft alar clefts alkaline urine allantoic cyst allergic conjunctivitis allergic rhinitis alobar holoprosencephaly alopecia areata alopecia totalis alopecia universalis alternate esotropia alternate exotropia alternate hyperphoria alternate hypertropia alternate hypophoria alternate hypotropia alternate strabismus alternating esotropia alternating exotropia alternating hyperphoria alternating hypertropia alternating hypophoria alternating hypotropia alternating strabismus alveolar cleft alveolar hypoventilation alveolar proteinosis alveolar rhabdomyosarcoma alveolar synechiae alzheimer disease amaurosis fugax ambiguous genitalia amegakaryocytic thrombocytopenia amelogenesis imperfecta amnesic aphasia amnestic aphasia amnestic aura amnestic seizure amniotic band amniotic bands amniotic sheet amniotic shelf amphetamine addiction amphetamine dependence amygdala microinfarct amygdalar enlargement amyloid cardiomyopathy amyloid disease anaemic pallor anagen effluvium anal atresia anal erosion anal fissure anal fistula anal incontinence anal neoplasm anal pain anal stenosis anaphylactic shock androgen insufficiency anemic pallor aneurysmal dilatation aneurysmal disease angina pectoris angioid streak angioid streaks angioma serpentinum angioneurotic oedema angular cheilitis angular cheilosis angular stomatitis angulate antihelix angulate humerus angulated antihelix angulated humerus ankle clonus ankle contracture ankle contractures ankle pain ankle stiffness ankle swell ankle swelling ankle weakness annular pancreas annulus migrans anodontia vera anomalous trichromacy anomic aphasia anoperineal fistula anorectal abscess anorectal anomaly anorectal stricture antalgic gait antecubital pterygium antepartum haemorrhage antepartum hemorrhage anterior beak anterior beaking anterior blepharitis anterior embryotoxon anterior encephalocele anterior hypopituitarism anterior lenticonus anterior megalophthalmos anterior openbite anterior plagiocephaly anterior rachischisis anterior staphyloma anterior synechiae anterior uveitis anterior wedge anterior wedging anterograde amnesia anteverted ear anteverted ears anteverted nares anteverted naris anteverted nose anteverted nostril anteverted nostrils antidromic avrt antihelical shelf antineutrophil antibodies antineutrophil antibody antinuclear antibodies antinuclear antibody antiphospholipid antibodies antiphospholipid antibody anus anteposition anus malposition anxiety disease aortic aneurysm aortic atherosclerosis aortic atresia aortic coarctation aortic dilatation aortic dissection aortic insufficiency aortic regurgitation aortic rupture aortic stenosis aortic stiffness aortic tortuosity aortopulmonary window apertognathia malocclusion aphthous stomatitis aphthous ulcer apical cap aplastic anaemia aplastic anemia aplastic clavicle aplastic clavicles aplastic colon aplastic humerus aplastic nail aplastic nails aplastic patella aplastic patellae apneic episode apneic episodes apocrine hidrocystoma appendicular ataxia appendicular hypotonia apple cheek apple cheeks aquagenic urticaria aqueduct stenosis aqueductal stenosis arachnoid cyst arachnoid cysts arachnoid hemangiomatosis arch eyebrow archaic reflex arched eyebrows arcuate scotoma arcus juvenilis arcus lipoidis arcus senilis areolar fullness arginine deficiency argininosuccinic aciduria arm dystonia armpit cyst arteria lusoria arterial abnormalities arterial abnormality arterial calcification arterial dissection arterial hypertension arterial hypotension arterial occlusion arterial rupture arterial stenosis arterial thrombosis arterial tortuosity arteriovenous fistula arteriovenous fistulas arteriovenous malformation arthritic pain arthrogryposis multiplex aseptic leukocyturia aseptic necrosis asherman syndrome aspartic aciduria asphyxia neonatorum aspiration pneumonia astatic seizure astatic seizures asteroid hyalosis asthenic habitus asymmetric chest asymmetric ear asymmetric ears asymmetric facies asymmetric growth asymmetric overgrowth asymmetric pelvis asymmetric ventricle asymmetric ventricles asymptomatic hyperammonemia asymptomatic hyperthyroxinemia ataxic gait ataxic tremor atheroeruptive xanthoma atherosclerotic lesion athetoid movement athetoid movements athyroidal hypothyroidism atlantoaxial abnormality atlantoaxial dislocation atlantoaxial instability atlantoaxial subluxation atoll sign atonic seizure atonic seizures atopic dermatitis atretic gallbladder atrial arrhythmia atrial cardiomyopathy atrial fibrillation atrial flutter atrial gallop atrial heterotaxy atrial standstill atrioseptal defect atrioventricular block atrioventricular canal atrioventricular dissociation atrophic cerebellum atrophic pituitary atrophic scar atrophic scars atrophic skin atrophodermia vermiculata attach earlobe attached earlobe attention deficit attention deficits atypical absence atypical elliptocytosis atypical hyperphenylalaninemia atypical mole atypical neurofibromatosis atypical nevus atypical scarring auditory aura auditory hallucination auditory hallucinations aura continua aura continuum auricular malformation auricular pit auricular tag autistic behavior autistic behaviors autistic behaviour autistic behaviours autoimmune condition autoimmune disease autoimmune disorder autoimmune hypoparathyroidism autoimmune neutropenia autoimmune thrombocytopenia autonomic aura autonomic auras autonomic dysfunction autonomic dysregulation autophagic vacuole autophagic vacuoles avascular necrosis axenfeld anomaly axial dystonia axial hypotonia axial myopia axillary freckling axillary pterygia axillary pterygium axonal degeneration axonal loss axonal neuropathy axonal regeneration b lymphocytopenia babinski sign baby eczema back knee back pain bacteria allergy bacterial endocarditis bad bite bad breath baggy eye baggy eyes balance impairment band keratopathy barking cough barrel chest barret syndrome barrett esophagus barrett oesophagus basal encephalocele basilar impression basilar invagination bead rib beaded ribs beak nail beak nose beaked nails beaked nose beaklike protrusion beau line beau lines beauty mark behavioral abnormality behavioral change behavioral changes behavioral disorder behavioral disorders behavioral disturbance behavioral disturbances behavioral problem behavioral problems behavioral symptom behavioral symptoms behavioural abnormality behavioural change behavioural changes behavioural disorder behavioural disorders behavioural disturbance behavioural disturbances behavioural problem behavioural problems behavioural symptom behavioural symptoms belly bloat belly bloating benzodiazepine addiction benzodiazepine dependence bergmeister papilla bethlem phenomenon bethlem sign biceps aplasia biceps areflexia biceps hyperreflexia biceps hypoplasia biceps hyporeflexia biconcave vertebra biconcave vertebrae bicornuate uterus bicoronal synostosis bidirectional shunt bifid antitragus bifid clitoris bifid epiglottis bifid femur bifid humerus bifid nail bifid nose bifid penis bifid rib bifid ribs bifid sacrum bifid scrotum bifid skull bifid sternum bifid thumb bifid tongue bifid tragus bifid ureter bifid uterus bifid uvula bifid xiphisternum bifurcate tongue bifurcated tongue big calvaria big cheek big cheeks big cranium big face big head big mandible big maxilla big midface big nose big skull bilambdoid synostosis bilateral camptodactyly bilateral cheiloschisis bilateral clubfeet bilateral clubfoot bilateral crossbite bilateral cryptorchidism bilateral microphthalmos bilateral microtia bilateral nanophthalmos bilateral palatoschisis bilateral polymicrogyria bilateral ptosis bilateral svc biliary atresia biliary cirrhosis biliary dyskinesia biliary hamartoma biliary hyperplasia bilineage myelodysplasia bilingual aphasia bilobate gallbladder bilobed gallbladder bilobed tongue bimanual synkinesia binasal hemianopia binucleated podocytes biparietal bossing biparietal narrowing bipartite calcaneus bipartite clavicle bipartite patella bipedal edema bipedal oedema bipolar disorder bite cell bite cells bitemporal hemianopia bitemporal hollowing bitemporal narrowing bitemporal narrowness bitemporal widening biventricular hypertrophy black faeces black feces bladder cancer bladder carcinoma bladder diverticula bladder diverticulum bladder duplication bladder exstrophy bladder fistula bladder hernia bladder incontinence bladder neoplasm bladder pain bladder polyp bladder prolapse bladder stone bladder stones bladder trabeculation bladder tumor bladder tumour bleed diathesis bleeding diathesis bleeding gum bleeding gums bleeding tendency blesovsky syndrome blind spot blind vagina blister cell blister cells block vertebra block vertebrae blond hair blonde eyebrow blonde eyelash blonde eyelashes blood cancer blood hyperviscosity blood spot blood spots blood tumor blood tumour blood xenobiotic bloody diarrhea bloody diarrhoea bloody nose bloody stool bloody urine blue eye blue eyes blue irides blue iris blue nevus blue sclera blue sclerae blue urine bluish face bluish lip bluish lips bluish sclerae blunt uvula blur vision blurred vision blush cheek blushed cheeks bochdalek hernia body ache body odor body odour boerhaave syndrome bone calcaneus bone coccyx bone cyst bone cysts bone elbow bone epiphysis bone fibula bone fracture bone fragility bone head bone humerus bone hypertrophy bone ilium bone infarction bone infection bone knee bone larynx bone mandible bone maxilla bone neoplasm bone nose bone overgrowth bone pain bone patella bone pe bone pes bone phalanx bone rib bone scapula bone skull bone sternum bone talus bone tibia bone vertebra bony ankylosis bound pulse bounding pulse bovine arch bow femur bow femura bow humerus bow leg bow legs bow radius bow shankbone bow shinbone bow thighbone bow tibia bow ulna bowed femur bowed femura bowed femurs bowed humerus bowed legs bowed radii bowed radius bowed shankbone bowed shinbone bowed thighbone bowed tibia bowed ulna bowel diverticula bowel diverticulosis bowel diverticulum bowel duplication bowel hemangioma bowel incontinence bowel irritability bowel obstruction bowel urgency brachioradialis areflexia brachioradialis hyperreflexia brachioradialis hyporeflexia brachydactyly syndrome brachymelic dwarfism brachymesophalangism v brachytelophalangism v bracket epiphyses bracket epiphysis brain abscess brain aneurysm brain atrophy brain calcification brain degeneration brain edema brain fog brain inflammation brain ischemia brain neoplasm brain oedema brain swelling brain tumor brain tumour brain wasting brainstem atrophy brainstem dysplasia brainstem glioma brainstem hypoplasia branchial abnormality branchial anomalies branchial anomaly branchial cyst branchial cysts branchial fistula branchial sinus break fibula break humerus break out break tibia breaking out breakthrough pain breast aplasia breast cancer breast carcinoma breast enlarge breast enlargement breast fibroadenoma breast fibroadenomas breast fibroadenosis breast hypertrophy breast hypoplasia breast lump breast mass breast tumor breast tumour breasts enlarged breathe cessation breathe difficulty breathe dysregulation breathing cessation breathing difficulties breathing difficulty breathing dysregulation breathy speech breech presentation brisk reflex brisk reflexes brittle hair brittle nail brittle nails broad chest broad chin broad clavicle broad clavicles broad collarbone broad columella broad cranium broad eyebrow broad eyebrows broad face broad facies broad feet broad finger broad fingernail broad fingernails broad fingers broad fingertip broad fingertips broad foot broad forehead broad halluces broad hallux broad hand broad hands broad humerus broad ischia broad jaw broad mandible broad metacarpal broad metacarpals broad metatarsal broad metatarsals broad mouth broad nail broad neck broad nose broad nostril broad palm broad phalanges broad phalanx broad philtrum broad radius broad rib broad ribs broad skull broad thumb broad thumbs broad toe broad ulna broad uvula broad xiphisternum broken fibula broken foot broken forearm broken humerus broken tibia broken wrist bronchial asthma bronchial atresia bronchial bleeding bronchial constriction bronchial diverticula bronchial diverticulum bronchial hemorrhage bronchial isomerism bronchial neoplasm bronchial papilloma bronchial telangiectasia bronchiolitis obliterans bronchocentric granulomatosis bronchogenic cyst bronchopulmonary anastomosis bronchopulmonary sequestration bronchus suis bronze skin brow ptosis brown anomaly brown eyelid brown eyelids brown syndrome bruise easily bruise susceptibility bruising susceptibility brushfield spot brushfield spots buck teeth buffalo hump bulbar palsies bulbar palsy bulbar sign bulbar signs bulbar weakness bulbous nose bulbous tooth bulge cornea bulge eye bulge forehead bulging cornea bulging epiphyses bulging epiphysis bulging eye bulging forehead bumpy tongue buried ear buried tooth burkitt lymphoma burn mouth burning mouth bury ear bury tooth bushy eyebrow bushy eyebrows butterfly rash butterfly vertebra butterfly vertebrae c3 nephropathy c4a deficiency c4b deficiency c8 deficiency ca nephrolithiasis ca2+ nephrolithiasis caesarian section calcaneonavicular fusion calcaneovalgus deformity calcaneovalgus foot calcific stipple calcific stippling calcified myocardium calcified placenta calcify placenta calcinosis cutis calcium nephrolithiasis calf hypertrophy calf myalgia caliceal dilatation caliceal diverticulum callosal agenesis calvarial defect calvarial hyperostosis calvarial osteosclerosis calvarial thickening calvarium thicken calvarium thickened calve disease candida esophagitis canker sore cant mandible cant maxilla cant mouth canted mandible canted maxilla canted mouth capillary fragility capillary hemangioma capillary leak capillary malformation capsular cataract capuchin ear capuchin ears caput medusa caput medusae carcinoid tumor carcinoid tumors carcinoid tumour carcinoid tumours cardiac abnormality cardiac amyloidosis cardiac anomalies cardiac anomaly cardiac arrest cardiac arrhythmia cardiac arrhythmias cardiac diverticulum cardiac failure cardiac failures cardiac fibroma cardiac hemangioma cardiac insufficiency cardiac murmur cardiac murmurs cardiac myxoma cardiac neoplasia cardiac neoplasm cardiac rhabdomyoma cardiac sarcoma cardiac shunt cardiac tamponade cardiac teratoma cardiogenic shock cardiomyocyte degeneration cardiomyocyte hypertrophy cardiorespiratory arrest cardiovascular abnormality cardiovascular calcification cardiovascular disease cardiovascular malformation cardiovascular malformations cardiovascular shock carious teeth carnitine deficiency caroticocavernous fistula carotid paraganglioma carotid stenosis carpal calcification carpal calcifications carpal fusion carpal osteolysis carpal synostosis carpometacarpal synostosis cartilage destruction cartilage inflammation cartilaginous malacia cartilaginous trachea cartilaginous tracheobronchomalacia cat cry cat eye caudal appendage caudate atrophy caudate degeneration cautious gait cavernous angioma cavernous haemangioma cavernous hemangioma cavitating leukodystrophy celiac disease celiac sprue cellular cast cellular casts cellular crescent cellular immunodeficiency cellular metachromasia cementation hyperplasia cementum aplasia cementum hypertrophy cementum hypoplasia cementum overdeveloped cementum overgrowth central apnea central apnoea central cyanosis central fatigue central hernia central heterochromia central hypothyroidism central hypotonia central hypoventilation central nuclei central nucleus central obesity central polydactyly central scotoma central scotomata centralise nucleus centralised nuclei centralize nucleus centralized nuclei centriacinar emphysema centrilobular emphysema centripetal obesity centrocecal scotoma cephalic aura cerebellar abnormalities cerebellar abnormality cerebellar agenesis cerebellar anomaly cerebellar ataxia cerebellar atrophy cerebellar calcification cerebellar calcifications cerebellar cyst cerebellar cysts cerebellar dysplasia cerebellar edema cerebellar glioma cerebellar gliosis cerebellar haemorrhage cerebellar hemangioblastoma cerebellar hemorrhage cerebellar hypoplasia cerebellar malformation cerebellar medulloblastoma cerebellar oedema cerebellar sign cerebellar signs cerebellar tremor cerebellopontine atrophy cerebral aneurysm cerebral atrophy cerebral calcification cerebral degeneration cerebral dysmyelination cerebral edema cerebral germinoma cerebral gliosis cerebral granulomatosis cerebral haemorrhage cerebral hamartoma cerebral hamartomata cerebral hemorrhage cerebral hypomyelination cerebral hypoplasia cerebral ischemia cerebral lesion cerebral oedema cerebral pachygyria cerebral palsy cerebral paralysis cerebral softening cerebral thrombosis cerebral vasculitis cerebrovascular accident cerebrovascular accidents cerebrovascular ischemia cerulean cataract cerumen abnormality ceruminous adenoma cervical agenesis cervical aplasia cervical dysplasia cervical dystonia cervical ectopy cervical ectropion cervical elongation cervical endometriosis cervical erosion cervical hemivertebrae cervical instability cervical insufficiency cervical kyphosis cervical lymphadenopathy cervical myelopathy cervical neoplasm cervical oestoarthritis cervical osteoarthritis cervical platyspondyly cervical polyp cervical rib cervical ribs cervical shortening cervical spondylosis cervical subluxation cervical tumor cervical tumour cervicomedullary schisis cervix cancer cfh autoantibodies cfh autoantibody chaddock reflex chap lip chapped lip chapped lips charcot arthropathy charcot joint cheekbone excess cheekbone prominence cheekbone rash cheekbone underdevelopment cheilitis simplex chest discomfort chest distress chest hemangioma chest pain chest retraction chest retractions chest tightness chew difficulty chewing difficulties chewing difficulty chiari malformation chicken skin chilblain lesion chilblain lesions childhood glaucoma chin butt chin dent chin dimple chin dimples chin myoclonus chin spasm chin spasms chloroquine retinopathy choanal atresia choanal stenosis choke episode choking episodes choledochal cyst cholesterol crystalluria cholesterol gallstone cholesterol gallstones choreatic disease choreic movement choreic movements choreiform movement choreiform movements choreoathetoid movement choreoathetoid movements choriocapillaris atrophy chorioretinal abnormality chorioretinal atrophy chorioretinal coloboma chorioretinal degeneration chorioretinal dysplasia chorioretinal dystrophy chorioretinal hyperpigmentation chorioretinal hypopigmentation chorioretinal lacuna chorioretinal lacunae chorioretinal scar chorioretinal thinning choroid coloboma choroid disease choroid haemorrhage choroid hemorrhage choroidal coloboma choroidal haemorrhage choroidal hemangioma choroidal hemorrhage choroidal hyperpermeability choroidal melanoma choroidal neovascularization choroidal nevus choroidoretinal coloboma chromaffin tumor chromaffin tumors chromaffin tumour chromaffin tumours chromosome breakage chronic acidosis chronic bronchitis chronic colitis chronic constipation chronic diarrhea chronic diarrhoea chronic fatigue chronic furunculosis chronic gastritis chronic hepatitis chronic infection chronic leukaemia chronic leukemia chronic neutropenia chronic pain chronic pancreatitis chronic rhinitis chronic sinusitis chronic villitis chronotropic incompetence chubby cheek chubby cheeks chvostek sign chylous ascites cicatricial alopecia cicatricial conjunctivitis cicatricial ectropion cicatricial entropion cicatricial lagophthalmos cicatrizating conjunctivitis ciliary dyskinesia ciliary limbus ciliary madarosis ciliary trichomegaly circular face circumlimbal hyperaemia circumlimbal hyperemia circumoral cyanosis circumungual hyperkeratosis civatte bodies civatte body classic lissencephaly clavicle pseudoarthrosis clavicular hypoplasia clavicular sclerosis claw hand claw hands cleft chin cleft earlobe cleft eyelid cleft hand cleft helix cleft lip cleft mandible cleft nose cleft nostril cleft palate cleft rib cleft ribs cleft tongue cleft uvula cleft velum clench hand clenched hands climacterium praecox clitoral enlargement clitoral hypertrophy clitoral hypoplasia cloacal abnormality cloacal exstrophy cloacogenic bladder clonic seizure close comedo close sight close sighted closed comedo cloudy cornea cloudy corneas cloudy lens cloudy urine cloverleaf skull club feet club foot clubbed finger clubbed fingers clubbed toe clubbed toes cluster headache cmv colitis cns cyst cns degeneration cns demyelination cns hypermyelination cns hypomyelination coagulation abnormalities coagulation abnormality coanal stenosis coarse face coarse facies coarse hair coat aorta coated aorta cobblestone lissencephaly cocaine addiction cocaine dependence coccidioidal meningitis coccygeal tail cochlear aplasia cochlear degeneration cochlear malformation cockleshell ear codfish vertebra codfish vertebrae coeliac disease coeliac sprue cognitive abnormality cognitive aura cognitive decline cognitive defect cognitive defects cognitive deficit cognitive deficits cognitive delay cognitive fatigue cognitive impairment cognitive seizure cogwheel rigidity cold paresis cold urticaria colitis ulcerosa collapse lung collapse nostril collapsed lung collapsed nostrils collodion baby colloid bodies colloid body colon cancer colon diverticula colon diverticulum colon perforation colon tumor colon tumour colon ulcer colonic atresia colonic diverticula colonic diverticulosis colonic diverticulum colonic eosinophilia colonic inertia colonic stenosis colonic varices colonic varix color blindness colorectal polyp colorectal polyposis colorectal polyps colour blindness combine immunodeficiency combined immunodeficiency comedogenic acne comedonal acne comitant strabismus commissural cheilitis commissural pit common atrium common cheilitis common ventricle communicate hydrocephalus communicating hydrocephalus communication delay compensate hypothyroidism compensated hypothyroidism compensatory scoliosis complement deficiency complete achromatopsia complete anodontia complete anophthalmia complete ophthalmoplegia compulsive hoarding con epiphysis concave glabella concave nail concentration problem concentration problems conchal shelf concomitant strabismus conduction deafness conductive deafness cone dysfunction cone dystrophy cone monochromacy coned epiphyses confusional arousal congenital agranulocytosis congenital amaurosis congenital aphakia congenital blindness congenital cataract congenital cataracts congenital contracture congenital contractures congenital encephalopathy congenital goiter congenital goitre congenital hydrocele congenital hypoparathyroidism congenital hypothyroidism congenital hypotonia congenital ichthyosis congenital kyphoscoliosis congenital macrocephaly congenital macroorchidism congenital megacolon congenital megaloureter congenital megalourethra congenital megaureter congenital microcephaly congenital microthorax congenital miosis congenital nephrosis congenital neuroblastoma congenital nystagmus congenital onychodystrophy congenital ophthalmoplegia congenital ptosis congenital scar congenital scars congenital thrombocytopenia congestive cardiomyopathy congruous hemianopsia conical cornea conical incisor conical microdontia conical teeth conical tooth conjoin teeth conjoined teeth conjugate hyperbilirubinemia conjugated hyperbilirubinemia conjunctival amyloidosis conjunctival cicatrization conjunctival dermolipoma conjunctival follicle conjunctival follicles conjunctival hamartoma conjunctival hyperaemia conjunctival hyperemia conjunctival icterus conjunctival injection conjunctival lipodermoid conjunctival lipoma conjunctival nodule conjunctival papilla conjunctival papillae conjunctival telangiectases conjunctival telangiectasia conoid incisor conoid tooth conotruncal defect consecutive esotropia consecutive exotropia constant exotropia constant urination constitutional symptom constrict ear constrict pupil constrict radius constricted ear constricted pupils constricted radius constrictive bronchiolitis constrictive pericarditis contact dermatitis convergence insufficiency convergent strabismus convex glabella convulsive encephalopathy cool skin coordination issue copper deficiency cor pulmonale cor triatriatum coralliform cataract cornea plana cornea verticillata corneal abnormalities corneal abnormality corneal annulus corneal arcus corneal astigmatism corneal asymmetry corneal cloud corneal clouding corneal crystal corneal crystals corneal degeneration corneal deposit corneal deposits corneal dystrophy corneal erosion corneal guttata corneal hypaesthesia corneal hypesthesia corneal inflammation corneal neovascularisation corneal neovascularization corneal opacities corneal opacity corneal pannus corneal perforation corneal scar corneal scarring corneal ulcer corneal ulceration corneal ulcerations corneal vascularization cornela disease corneolenticular adhesion cornu cutaneum coronal cleft coronal clefts coronal craniosynostosis coronal hypospadias coronal synostosis coronary atherosclerosis coronary cataract coronary disease coronary fistula cortical atrophy cortical blindness cortical cataract cortical cyst cortical cysts cortical dysplasia cortical irregularity cortical microcysts cortical myoclonus cortical nephrocalcinosis cortical sclerosis cortical tuber cortical tubers corticospinal sign corticospinal signs corticotropin deficiency cosman ear costochondral pain costochondral thickening covid finger covid fingers covid toe coxa magna coxa plana coxa valga coxa vara crack skin cracked skin cranial asymmetry cranial defect cranial dystonia cranial hyperostosis cranial sclerosis craniodiaphyseal osteosclerosis craniofacial asymmetry craniofacial disproportion craniofacial dysostosis craniofacial dystonia craniofacial hyperostosis craniofacial osteosclerosis craniofacial teratoma cranium bifidum crescentic glomerulonephritis crhr defect crimped helix crook incisor crook maxilla crook mouth crook nostril crook teeth crooked face crooked incisors crooked maxilla crooked mouth crooked nostrils crooked teeth cross bite crossover toe crouzon syndrome crowd teeth crowded teeth crumple ear crumple humerus crumpled ear crumpled humerus crural hernia cryptococcal meningitis csf lymphocytosis csf pleocytosis csf rhinorrhoea cubitus valgus cubitus varus cuboidal metacarpal cup ear cup rib cupped ear cupped ears cupped ribs curly eyelash curly eyelashes curly hair curve finger curve olecranon curve spine curve ulna curved fingers curved olecranon curved spine curved ulna cushing syndrome cutaneous abscess cutaneous amyloidosis cutaneous anergy cutaneous angiolipomas cutaneous apudoma cutaneous calcification cutaneous cyst cutaneous hamartoma cutaneous horn cutaneous hyperpigmentation cutaneous infection cutaneous infections cutaneous laxity cutaneous leiomyoma cutaneous leiomyomas cutaneous leiomyomata cutaneous leiomyosarcoma cutaneous mastocytosis cutaneous melanoma cutaneous myxoma cutaneous necrosis cutaneous osteosis cutaneous photosensitivity cutaneous syndactyly cutaneous telangiectasia cutaneous vasculitis cutaneous wound cutis aplasia cutis laxa cutis marmorata cyanotic episode cyanotic face cyanotic lip cyanotic lips cyclic esotropia cyclic exotropia cyclic neutropenia cyclops eye cystic acne cystic hygroma cystic kidney cystic kidneys cystic ovaries cystic ovary cystine crystalluria cytoid bodies cytoid body cytokine storm cytomegalovirus colitis dacrystic seizure dacrystic seizures dactylolysis spontanea dairy allergy dark choroid dark eyelid dark eyelids dark urine day blindness decerebrate posturing decerebrate rigidity decorticate rigidity decrease adenosylcobalamin decrease adocbl decrease aldosterone decrease appetite decrease bmi decrease dlco decrease electroretinogram decrease esr decrease fertility decrease gfr decrease haemoglobin decrease hemoglobin decrease iga decrease igd decrease ige decrease igm decrease inr decrease kco decrease lacrimation decrease ldl decrease libido decrease mch decrease mchc decrease mcv decrease mepp decrease methylcobalamin decrease ncv decrease pt decrease reflex decrease sweating decrease taste decrease testosterone decrease vigilance decrease weight decrease whr decreased adenosylcobalamin decreased adocbl decreased aldosterone decreased appetite decreased bmi decreased dlco decreased electroretinogram decreased esr decreased fertility decreased gfr decreased haemoglobin decreased hemoglobin decreased iga decreased igd decreased ige decreased igm decreased inr decreased kco decreased lacrimation decreased ldl decreased libido decreased mch decreased mchc decreased mcv decreased mepp decreased methylcobalamin decreased ncv decreased pt decreased reflexes decreased sweating decreased taste decreased testosterone decreased vigilance decreased weight decreased whr decubitus ulcer deep bite deep dermatophytosis deep overbite deep philtrum defective erythropoiesis deform auricle deform ear deform humerus deform radius deformational plagiocephaly deformed auricles deformed ears deformed humerus deformed radius degenerative vitreoretinopathy deglutition disorder deja vu delay adrenarche delay development delay ejaculation delay eruption delay growth delay menarche delay milestone delay myelination delay puberty delay speech delay thelarche delay walking delayed adrenarche delayed development delayed ejaculation delayed eruption delayed growth delayed menarche delayed milestones delayed myelination delayed puberty delayed speech delayed thelarche delayed walking delivery complication den evaginatus den invaginatus dens evaginatus dens invaginatus dense calvaria dense eyebrow dental abnormalities dental abnormality dental abscess dental agenesis dental anomalies dental anomaly dental caries dental cavities dental cavity dental crowding dental decay dental deformity dental diastasis dental diastema dental malformation dental malformations dental malocclusion dental overcrowding dental problem dental problems dentin anomaly dentin dysplasia dentinogenesis imperfecta dentoalveolar abscess dependant edema dependant oedema depigmented eyebrow depigmented eyelash depigmented eyelashes depigmented fundus depressed cheek depressed cheekbone depressed cheeks depressed glabella depressed philtrum depressive disorder dermal atrophy dermal translucency dermatoglyphic abnormalities dermatoglyphic abnormality dermatoglyphic variant dermatoglyphic variants dermatographic urticaria dermatological tumor dermatological tumors dermatological tumour dermatological tumours dermoid cyst desmin bodies desmin body desmoid tumor desmoid tumors desmoid tumour desmoid tumours detach retina detach skin detached retina detached skin developmental arrest developmental cataract developmental delay developmental glaucoma developmental regression developmental retardation developmental stagnation deviate finger deviate thumb deviated fingers deviated thumb devil ear dextroamphetamine addiction dextroamphetamine dependence diabetes insipidus diabetes mellitus diabetic ketoacidosis diabetic ketosis dialeptic seizure diaphragm issue diaphragm issues diaphragmatic defect diaphragmatic eventration diaphragmatic hernia diaphragmatic paralysis diaphragmatic paraparesis diaphragmatic sequestrum diaphragmatic weakness diaphyseal bowing diaphyseal dysplasia diaphyseal osteosclerosis diaphyseal sclerosis diaphyseal thicken diaphyseal thickening diastasis recti diastasis rectus dicarboxylic acidemia dicarboxylic aciduria differential cyanosis difficulty breathe difficulty breathing difficulty chew difficulty chewing difficulty run difficulty running difficulty sleep difficulty sleeping difficulty speaking difficulty stand difficulty standing difficulty swallow difficulty swallowing difficulty walk difficulty walking diffuse amyotrophy diffuse leiomyomatosis diffuse leukoencephalopathy diffuse polymicrogyria diffuse telangiectases diffuse telangiectasia digital anomalies digital anomaly digital clubbing digital ischemia digital ulcer digitalize thumb digitalized thumb dilate cardiomyopathy dilate naris dilate nostril dilate pupil dilate ureter dilate ventricle dilated cardiomyopathy dilated nares dilated nostril dilated pupil dilated ureter dilated ventricles diminish motivation diminish movement diminished motivation diminished movement dimple chin direct hyperbilirubinemia disc pallor discoid atelectasis discoid eczema diseased glomeruli diseased glomerulus dislocate hip dislocate kneecap dislocate lens dislocate patella dislocate radius dislocate wrist dislocated hips dislocated kneecap dislocated lens dislocated lenses dislocated patellae dislocated radius dislocated wrist displace kidney displace pupil displaced kidney displaced pupil disseminate dermatophytosis disseminate histoplasmosis disseminated dermatophytosis disseminated histoplasmosis dissociative reaction distal amyotrophy distal arthrogryposis distal paresis distal symphalangism distance esotropia distance exotropia distend abdomen distended abdomen distinctive facies distributive shock divergence insufficiency divergence nystagmus divergent strabismus dizzy spell dorsal hirsutism dorsolumbar kyphosis double antitragus double eyebrow double eyelid double gallbladder double tooth double ureter double uterus double vagina double vision downbeat nystagmus downgaze palsy downgaze paresis downturned mouth droop brow drooping brow drop arch drop attack drop attacks drop bladder drop seizure drop seizures dropped arches dropped bladder drug addiction drug allergy drug resistance dry cough dry coughing dry eye dry eyes dry hair dry lip dry lips dry mouth dry nipple dry skin duane anomaly ductus arteriosus dull intelligence dunbar syndrome duodenal adenocarcinoma duodenal aganglionosis duodenal atresia duodenal atrophy duodenal cancer duodenal diverticula duodenal diverticulum duodenal polyposis duodenal stenosis duodenal ulcer duplicate clitoris duplicate colon duplicate hallux duplicate nail duplicate thumb duplicate tongue duplicate tragus duplicated clitoris duplicated colon duplicated hallux duplicated nail duplicated thumb duplicated thumbs duplicated tongue duplicated tragus dupuytren contracture dural ectasia dysarthric speech dyscognitive seizure dyscognitive seizures dyserythropoietic anaemia dyserythropoietic anemia dysmetric saccade dysmetric saccades dysmorphic facies dysmorphic forehead dysmorphic hematuria dysmorphic midface dysmyelinating leukodystrophy dysostosis multiplex dysplastic acetabulae dysplastic ear dysplastic ears dysplastic erythropoesis dysplastic fingernail dysplastic fingernails dysplastic granulopoesis dysplastic kidney dysplastic kidneys dysplastic nail dysplastic nails dysplastic nevus dysplastic patella dysplastic radii dysplastic radius dysplastic sacrum dysplastic testes dysplastic testis dysplastic toenail dysplastic toenails dysseborrheic dermatitis dystonia tremor dystonic disease dystonic gait dystonic movement dystonic movements dystopia canthorum dystrophic fingernail dystrophic fingernails dystrophic nail dystrophic nails dystrophic toenail dystrophic toenails ear anomalies ear anomaly ear hair ear pain ear pit ear tag ear tumor ear tumour earlobe crease early balding early chronotype early graying early greying early menopause early puberty early satiety easily confuse easily confused easily distract easily distracted easy bleeding easy bruisability easy bruising easy fatigability ebv encephalitis ebv meningitis eccentric fixation eccrine syringofibroadenoma echogenic bowel echogenic kidney echogenic kidneys ectodermal dysplasia ectopia cordis ectopia lentis ectopia pupillae ectopia vesica ectopia vesicae ectopic anus ectopic calcification ectopic fovea ectopic kidney ectopic kidneys ectopic liver ectopic macula ectopic neurohypophysis ectopic ossification ectopic ovary ectopic parathyroid ectopic pregnancy ectopic scrotum ectopic spleen ectopic thyroid ectropion uveae eczematoid dermatitis eeg abnormalities eeg abnormality egg allergy ejaculatory incompetence ekg abnormality elbow ankylosis elbow clonus elbow contracture elbow contractures elbow dislocation elbow dislocations elbow hypertrichosis elbow pain elbow stiffness electrical alternans electroencephalogram abnormal electroencephalogram abnormalities electroencephalogram abnormality electrolyte disorder electrolyte disorders electrolyte disturbance electromyogram abnormal electronegative electroretinogram electronegative erg elevate alp elevate calcitonin elevate creatinine elevate crp elevate esr elevate fev1 elevate gonadotropin elevate hba1c elevate iga elevate igd elevate iop elevate palate elevate rv elevate transaminase elevated alp elevated calcitonin elevated creatinine elevated crp elevated esr elevated fev1 elevated gonadotropins elevated hba1c elevated iga elevated igd elevated iop elevated palate elevated rv elevated transaminases elfin ear elfin facies elongate clavicle elongate eyebrow elongate neck elongate nose elongate philtrum elongate radius elongate uvula elongated clavicles elongated eyebrow elongated neck elongated nose elongated philtrum elongated radius elongated uvula embryonal neoplasia embryonal neoplasm embryonal rhabdomyosarcoma embryonal tumor embryonal tumors embryonal tumour embryonal tumours embryonic anencephaly emg abnormalities emg abnormality emotional aura emotional blunting emotional hypersensitivity emotional insecurity emotional instability emotional lability emotional seizure enamel abnormalities enamel abnormality enamel agenesis enamel dysplasia enamel hypomineralization enamel hypoplasia enamel hypotrophy enamel opacity enamel pearl enamel pearls endobronchial telangiectasia endocapillary hypercellularity endocardial fibroelastosis endocardial fibrosis endocrine neoplasia endodontic abnormality endometrial carcinoma endometrial inflammation endomyocardial fibrosis endothelial dysfunction endplate irregularities endplate irregularity endplate sclerosis enlarge amygdala enlarge antitragus enlarge brain enlarge brainstem enlarge cerebellum enlarge clitoris enlarge cornea enlarge epiphysis enlarge eyeball enlarge fontanelle enlarge heart enlarge hippocampus enlarge kidney enlarge liver enlarge mandible enlarge metaphyses enlarge naris enlarge nostril enlarge ovary enlarge penis enlarge premolar enlarge thorax enlarge thymus enlarge tonsil enlarge tragus enlarge uterus enlarge ventricle enlarged amygdala enlarged antitragus enlarged brain enlarged brainstem enlarged cerebellum enlarged clitoris enlarged cornea enlarged epiphyses enlarged eyeball enlarged fontanelles enlarged heart enlarged hippocampus enlarged joint enlarged joints enlarged kidney enlarged liver enlarged mandible enlarged metaphyses enlarged nares enlarged naris enlarged nostril enlarged ovaries enlarged penis enlarged premolar enlarged thorax enlarged thymus enlarged tonsils enlarged tragus enlarged uterus enlarged ventricles enterocutaneous fistula enteroviral hepatitis enthesis abnormality entrapment neuropathy enuresis diurna enuresis nocturna eosinophilic ascites eosinophilic cholecystitis eosinophilic colitis eosinophilic cystitis eosinophilic dermatitis eosinophilic enteritis eosinophilic esophagitis eosinophilic fasciitis eosinophilic gastritis eosinophilic gastroenteritis eosinophilic granuloma eosinophilic hepatitis eosinophilic pneumonia epibulbar dermoid epibulbar dermoids epicanthal fold epicanthal folds epicanthic fold epicanthic folds epicanthus inversus epicanthus palpebralis epicanthus superciliaris epicanthus tarsalis epidermal acanthosis epidermal cyst epidermal detachment epidermal hyperkeratosis epidermal nevi epidermal nevus epidermal thickening epidermoid cyst epidermoid cysts epidermolytic hyperkeratosis epididymal cyst epididymal cysts epididymal neoplasm epidural haematoma epidural haemorrhage epidural hematoma epidural hemorrhage epigastric aura epigastric auras epigastric pain epigastrium pain epileptic aura epileptic encephalopathy epileptic seizure epileptic spasm epileptic spasms epiphyseal abnormality epiphyseal dysplasia epiphyseal sclerosis epiphyseal stipple epiphyseal stippling epiphyseal streak epiphyseal streaking epiretinal membrane epiretinal membranes episodic ataxia episodic diarrhea episodic diarrhoea episodic dystonia episodic eosinophilia episodic fatigue episodic fever episodic hemiplegia episodic hemolysis episodic hyperhidrosis episodic hypersomnia episodic hypertension episodic hyperventilation episodic hypokalemia episodic hypoventilation episodic ketoacidosis episodic pain episodic paralysis episodic quadriplegia episodic tachypnea episodic vomit episodic vomiting epithelial neoplasm epithelioid hemangioma equinovalgus deformity equinovarus deformity equinus calcaneus erectile abnormalities erectile abnormality erectile dysfunction erg abnormal erosive vitreoretinopathy erratic myoclonus eruption failure eruptive xanthoma eruptive xanthomas erythema migrans erythema nodosum erythematosquamous plaque erythematous macule erythematous papule erythematous plaque erythrocyte cylindruria erythrocyte macrocytosis erythrocyte stomatocytes erythroid dysplasia erythroid hyperplasia erythroid hypoplasia esophageal atresia esophageal candidiasis esophageal carcinoma esophageal diverticulum esophageal duplication esophageal exudate esophageal furrow esophageal furrows esophageal hemangioma esophageal leukoplakia esophageal neoplasm esophageal obstruction esophageal pouch esophageal spasm esophageal spasms esophageal stenosis esophageal stricture esophageal tumor esophageal tumour esophageal ulceration esophageal varices esophageal varix esophageal web esophagus ulcer essential tremor ethmoidal encephalocele ethylmalonic aciduria eunuchoid habitus euthyroid goiter euthyroid goitre euthyroid hyperthyroxinemia evert antitragus evert eyelid evert lip everted antitragus everted eyelid everted lips ewing sarcoma excessive cerumen excessive hairiness excessive salivation excessive sleepiness excessive sweating exercise intolerance exertional breathlessness exertional dyspnea exertional dyspnoea exfoliative dermititis experiential aura experiential auras expiratory crackle expiratory crackles explosive speech expressionless face expressive aphasia extend belly extended belly extensible joint extensible joints external ophthalmoplegia extinguish electroretinogram extinguished electroretinogram extra cusp extra eyelid extra finger extra fontanelle extra fontanelles extra kidney extra nostril extra rib extra ribs extra scrotum extra spleen extra teeth extra testes extra testis extra thumb extra tooth extraadrenal pheochromocytoma extracapillary hypercellularity extradural haematoma extradural hematoma extrahepatic cholestasis extralobar sequestration extramedullary erythropoiesis extramedullary hematopoiesis extrapulmonary sequestrum extrapulmonary tb extrapulmonary tuberculosis extrapyramidal dysfunction extrapyramidal dyskinesia extrapyramidal sign extrapyramidal signs extrapyramidal symptom extrapyramidal symptoms extrapyramidal syndrome extreme thirst exudative retinopathy exudative vitreoretinopathy eye disease eye drop eye floater eye floaters eye fold eye folds eye freckle eye pain eye poking eye strain eye tumor eye tumour eyelash abnormality eyelash trichomegaly eyelid apraxia eyelid bump eyelid coloboma eyelid dermatochalasia eyelid edema eyelid erythema eyelid fasciculation eyelid fluttering eyelid lag eyelid laxity eyelid mass eyelid myoclonia eyelid myoclonias eyelid myoclonus eyelid myokymia eyelid nodule eyelid nodules eyelid oedema eyelid ptosis eyelid retraction eyelid spasm eyelid synechiae eyelid thickening eyelid twitch eyelid twitching fabry syndrome face blindness face tumor face tumour face weakness facet arthritis facial abnormality facial agnosia facial angiofibromas facial anomaly facial asymmetry facial cleft facial clefts facial cyanosis facial diplegia facial droop facial dysmorphism facial dystonia facial edema facial erythema facial grimacing facial hemangioma facial hemangiomata facial hemiatrophy facial hemihyperplasia facial hemihypertophy facial hirsutism facial hyperostosis facial hypertrichosis facial hypoplasia facial hypotonia facial melanosis facial myokymia facial neoplasm facial oedema facial palsy facial papilloma facial paralysis facial paresis facial puffiness facial spasm facial spasms facial swelling facial telangiectasia facial tic facial tics facial verruca facial wart facial weakness facial wrinkling faecal incontinence faecal urgency faecal vomiting fainting spell fair hair fair skin fall arch fallen arches false denticle false denticles falter weight faltering weight fasciculiform cataract fast hyperinsulinemia fast hypoglycemia fasting hyperinsulinemia fasting hypoglycemia fat embolism fat malabsorption fatigable weakness fatty cast fatty casts fatty kidney fatty liver fatty lump fatty pancreas fatty stool fatty streak feather allergy febrile convulsion febrile seizure febrile seizures fecal incontinence fecal urgency fecal vomiting feculent vomit feculent vomiting feed difficulty feeding difficulties feeding problem feeding problems female anorgasmia female hypogonadism female infertility female pseudohermaphroditism femoral aplasia femoral bowing femoral fracture femoral hernia femoral hypoplasia femoral spur femoroacetabular impingement femur fracture fetal akinesia fetal anencephaly fetal ascites fetal distress fetal hyperkinesia fetal hypokinesia fetal macrosomia fetal megacystis fetal overgrowth fetal polyuria fetal pyelectasis fetor hepaticus fiber splitting fibre splitting fibroblast metachromasia fibrocellular crescent fibrotic testes fibrotic testicle fibrotic testis fibrous cholangitis fibrous crescent fibrous hamartoma fibrous syngnathia fibula fracture fibular aplasia fibular bowing fibular duplication fibular hypoplasia fibular overgrowth fibular polydactyly fine hair finger agnosia finger clinodactyly finger club finger clubbing finger dactylitis finger hyperphalangy finger overgrowth finger pain finger polydactyly finger stiffness finger swell finger swelling finger symphalangism finger syndactyly fingernail dysplasia fingerpad telangiectases firm muscle firm muscles fish mouth fish odor fish odour fish vertebra fish vertebrae fishy odor fishy odour fissure tongue fissured tongue flaccid neck flail chest flake skin flaking skin flank pain flare eyebrow flare humerus flare metaphysis flare nostril flared eyebrow flared eyebrows flared humerus flared metaphysis flared nostrils flat cheekbone flat cornea flat epiphyses flat epiphysis flat eyebrow flat face flat facies flat feet flat foot flat forehead flat glabella flat head flat midface flat nose flat occiput flat philtrum flat purpura flat wart flatten epiphysis flatten forehead flatten vertebra flattened epiphysis flattened forehead flattened vertebrae flegel disease fleshy earlobe fleshy earlobes flexible joint flexible joints flexion contracture flexion contractures flexural lichenification flit fly flitting flies float kidney floating kidney floppy eyelid floppy neck floppy windpipe fluctuate hepatomegaly fluctuate splenomegaly fluctuating hepatomegaly fluctuating splenomegaly fluent aphasia fluid imbalance fluid retention fluorescein leakage foam cell foam cells foamy histiocyte foamy histiocytes foamy macrophage foamy macrophages foamy urine focal dystonia focal glomerulosclerosis focal lissencephaly focal polymicrogyria focal seizure focal seizures foetal akinesia foetal anencephaly foetal ascites foetal distress foetal hyperkinesia foetal hypokinesia foetal macrosomia foetal megacystis foetal overgrowth foetal polyuria foetal pyelectasis foetor hepaticus folate deficiency follicular bronchiolitis follicular hyperkeratosis follicular hyperplasia follicular keratosis follicular lymphoma follicular plugging follicular pustule food allergy food intolerance foot acroosteolysis foot asymmetry foot crease foot deformities foot deformity foot drop foot ectrodactyly foot macrodactyly foot monodactyly foot oligodactyly foot osteomyelitis foot pain foot polydactyly foot syndactyly forceps delivery forearm undergrowth forefoot varus forehead hyperpigmentation fork tongue fork uvula forked tongue forked uvula foveal atrophy foveal degeneration foveal depigmentation foveal haemorrhage foveal hemorrhage foveal hyperpigmentation foveal hypopigmentation foveal hypoplasia fracture ankle fracture calcaneus fracture coccyx fracture elbow fracture epiphysis fracture fibula fracture hair fracture head fracture humerus fracture knee fracture larynx fracture mandible fracture maxilla fracture nose fracture patella fracture pe fracture phalanx fracture radius fracture rib fracture scapula fracture shoulder fracture skull fracture sternum fracture talus fracture tibia fracture ulna fracture vertebra fracture wrist fractured ankle fractured calcaneus fractured coccyx fractured elbow fractured epiphysis fractured fibula fractured hair fractured head fractured humerus fractured ilium fractured knee fractured larynx fractured mandible fractured maxilla fractured nose fractured patella fractured pes fractured phalanx fractured radius fractured rib fractured scapula fractured shoulder fractured skull fractured sternum fractured talus fractured tibia fractured ulna fractured vertebra fractured wrist fragile hair fragile nail fragile nails fragile skin fragile teeth fragment epiphysis fragment sleep fragmentary myoclonus fragmented epiphyses fragmented sleep freckle genitalia freckled genitalia freeze gait freezing gait frequent caries frequent fall frequent falls frequent fracture frequent fractures frequent infection frequent infections frequent nosebleed frequent nosebleeds frequent urination frequent vomit frequent vomiting froment sign frontal balding frontal bossing frontal cowlick frontal encephalocele frontal flattening frontal hirsutism frontal plagiocephaly frontal polymicrogyria frontal protruberance frontoethmoid meningocele frontoethmoidal meningocele frontolimbic dementia frontomalar faciosynostosis frontoparietal polymicrogyria frontotemporal dementia frontotemporal hypertrichosis frost cataract frosted cataract frothy urine fructose intolerance fructose malabsorption full cheek full cheeks full lip full lips fulminant hepatitis fundus albipunctatus fundus atrophy fundus haemorrhage fundus hemorrhage fundus hypopigmentation fungal allergy fungal meningitis fungi allergy fungus allergy funnel chest furrow tongue furrowed tongue fuse kidney fuse lip fuse nail fuse neck fuse rib fuse teeth fuse thalamus fuse toe fuse vertebra fused kidneys fused lips fused nails fused neck fused ribs fused teeth fused thalami fused toes fused vertebrae gait abnormalities gait abnormality gait apraxia gait ataxia gait difficulties gait difficulty gait disturbance gait disturbances gait imbalance gait instability galactose intolerance gallbladder atresia gallbladder duplication gallbladder dysfunction gallbladder dyskinesia gallbladder inflammation gallbladder perforation gallop rhythm ganglioside accumulation gastric adenocarcinoma gastric cancer gastric diverticulum gastric duplication gastric ectopia gastric hypertrophy gastric leiomyosarcoma gastric lymphoma gastric malposition gastric polyposis gastric ulcer gastric varices gastric varix gastro pain gastrocnemius myalgia gastroesophageal reflux gastrointestinal angiodysplasia gastrointestinal atony gastrointestinal atresia gastrointestinal bleeding gastrointestinal carcinoma gastrointestinal disease gastrointestinal duplication gastrointestinal dysmotility gastrointestinal eosinophilia gastrointestinal haemorrhage gastrointestinal hamartoma gastrointestinal hemorrhage gastrointestinal infarction gastrointestinal infarctions gastrointestinal infection gastrointestinal infections gastrointestinal inflammation gastrointestinal obstruction gastrointestinal pain gastrointestinal polyp gastrointestinal polyps gastrointestinal telangiectasia gelastic seizure gelastic seizures general overgrowth generalise aminoaciduria generalise amyotrophy generalise anhidrosis generalise anhydrosis generalise convulsion generalise dystonia generalise elastolysis generalise erythroderma generalise erythrodermia generalise hirsutism generalise hyperkeratosis generalise hyperpigmentation generalise hyperreflexia generalise hypertrichosis generalise hypopigmentation generalise hypotonia generalise hypotrichosis generalise ichthyosis generalise lipodystrophy generalise lymphadenopathy generalise microdontia generalise oedema generalise osteopenia generalise osteoporosis generalise osteosclerosis generalise overgrowth generalise periodontitis generalise seizure generalise trichodysplasia generalise weakness generalised aminoaciduria generalised amyotrophy generalised anhidrosis generalised anhydrosis generalised convulsion generalised dystonia generalised elastolysis generalised erythroderma generalised erythrodermia generalised hirsutism generalised hyperkeratosis generalised hyperpigmentation generalised hyperreflexia generalised hypertrichosis generalised hypopigmentation generalised hypotonia generalised hypotrichosis generalised ichthyosis generalised lipodystrophy generalised lymphadenopathy generalised microdontia generalised oedema generalised osteopenia generalised osteoporosis generalised osteosclerosis generalised overgrowth generalised periodontitis generalised seizures generalised trichodysplasia generalised weakness generalize aminoaciduria generalize amyotrophy generalize anhidrosis generalize anhydrosis generalize convulsion generalize dystonia generalize edema generalize elastolysis generalize erythroderma generalize erythrodermia generalize hirsutism generalize hyperkeratosis generalize hyperpigmentation generalize hyperreflexia generalize hypertrichosis generalize hypopigmentation generalize hypotonia generalize hypotrichosis generalize ichthyosis generalize lipodystrophy generalize lymphadenopathy generalize microdontia generalize osteopenia generalize osteoporosis generalize osteosclerosis generalize overgrowth generalize periodontitis generalize seizure generalize trichodysplasia generalize weakness generalized aminoaciduria generalized amyotrophy generalized anhidrosis generalized anhydrosis generalized convulsion generalized dystonia generalized edema generalized elastolysis generalized erythroderma generalized erythrodermia generalized hirsutism generalized hyperkeratosis generalized hyperpigmentation generalized hyperreflexia generalized hypertrichosis generalized hypopigmentation generalized hypotonia generalized hypotrichosis generalized ichthyosis generalized lipodystrophy generalized lymphadenopathy generalized microdontia generalized osteopenia generalized osteoporosis generalized osteosclerosis generalized overgrowth generalized periodontitis generalized seizures generalized trichodysplasia generalized weakness genital abnormalities genital abnormality genital anomalies genital anomaly genital blistering genital defect genital defects genital edema genital hernia genital neoplasia genital neoplasm genital oedema genital tumor genital tumour genital ulcer genital ulcers genital wart genital warts genitourinary abnormality genitourinary disease genitourinary dysplasia genu recurvata genu recurvatum genu valga genu valgum genu valgus genu vara genu varum genua valga genua vara geographic atrophy geographic tongue gestational diabetes ghost teeth gi angiodysplasia gi atresia gi carcinoma gi duplication gi dysfunction gi dysmotility gi eosinophilia gi haemorrhage gi hemorrhage gi infarction gi infarctions gi inflammation gi obstruction gi telangiectasia giant heterotopia giant platelet giant platelets giant sep giant seps gibbus deformity gingival abnormality gingival bleeding gingival calcification gingival calcifications gingival cleft gingival enlargement gingival fibroma gingival fibromatosis gingival haemorrhage gingival hemorrhage gingival hyperkeratosis gingival hyperpigmentation gingival hyperplasia gingival inflammation gingival overgrowth gingival recession gingival synechia glabellar abnormality glabellar hemangioma glabellar reflex glandular hypospadias glanzmann thrombasthenia glenoid hypoplasia glioblastoma multiforme glioneuronal tumor glioneuronal tumour global glomerulosclerosis globe elongate globe elongated glomerular congestion glomerular deposit glomerular deposits glomerular endotheliosis glomerular hyalinosis glomerular nephritis glomerular obsolescence glomerular proteinuria glomerular pseudocrescent glomerular sclerosis glomeruloid hemangioma glossal abnormality glossal hypertrophy glucocorticoid insufficiency gluconeogenesis impair gluconeogenesis impaired glucose intolerance glue ear glutarate acidemia glutarate aciduria glutaric acidemia glutaric aciduria gluten allergy gluten intolerance gluten sensitivity glyoxalase deficiency gonadal agenesis gonadal calcification gonadal dysgenesis gonadal hypoplasia gonadal neoplasia gonadal neoplasm gonadotropin deficiency gonadotropin excess gordon reflex gordon sign gothic palate gottron papule gottron papules gouty arthritis gower sign gowers sign graf dermopathy graf disease grand mal granular cast granular casts granulocytic hyperplasia granulocytic hypoplasia granulomatous cholangitis granulovacuolar degeneration grasp reflex graves dermopathy graves disease gray platelet gray platelets grayish enamel green teeth green urine grey eyebrow grey eyelash grey eyelashes grey platelet grey platelets greyish enamel grip myotonia groin abscess groin pain groove nail groove tongue grooved nails grooved tongue gross hematuria growth abnormality growth deficiency growth delay growth failure growth issue growth retardation gum disease gum enlargement gum hypertrophy gum recession gustatory aura gustatory auras gustatory lacrimation gustatory sweating gut duplication gut malrotation haematological abnormality haematological neoplasm haemoglobin bart haemoglobin barts haemoglobin c haemoglobin h haemolytic anaemia haemorrhagic disorder haemorrhagic disorders hair abnormality hair hypopigmentation hair loss hair xenobiotic hairline peak hairline point hairy elbow hairy forehead hallucal duplication hallucal symphalangism hallucinatory aura hallucinatory auras hallux rigidus hallux valgus hallux varus hamartomatous polyp hamartomatous polyposis hamartomatous polyps hammer toe hamstring contracture hamstring contractures hand anomalies hand anomaly hand apraxia hand clench hand clenching hand deformities hand deformity hand dimple hand dimples hand ectrodactyly hand monodactyly hand oligodactyly hand pain hand paresthesia hand polydactyly hand tingle hand tingling hand tremor handgrip myotonia handlebar clavicle hang skin hanging skin happy aspect happy demeanor happy demeanour harlequin phenomenon harris line harris lines hashimoto thyroiditis hay fever hb bart hb barts hb haemoglobin hb hemoglobin hbc haemoglobin hbc hemoglobin hbh haemoglobin hbh hemoglobin hbs haemoglobin hbs hemoglobin head abnormality head jerking head lag head titubation head tremor hear sound hearing abnormality hearing defect hearing impairment hearing loss hearing sounds heart attack heart block heart defect heart failure heart murmur heart murmurs heart palpitation heart palpitations heart race heart racing heart tumor heart tumour heat intolerance heavy albuminuria heavy eyebrow heavy eyebrows heavy proteinuria heavy snoring heffner tumor heffner tumour heinz bodies heinz body helical atelectasis heliotrope erythema heliotrope rash helix abnormal hematologic disease hematological abnormality hematological neoplasm hemianopic blurring hemiclonic seizure hemiclonic seizures hemifacial atrophy hemifacial enlargement hemifacial hypertrophy hemifacial hypoplasia hemifacial microsomia hemifacial seizure hemifacial seizures hemifacial spasm hemifacial spasms hemiglossal hyperplasia hemiglossal hypertrophy hemoglobin bart hemoglobin barts hemoglobin c hemoglobin h hemolytic anaemia hemolytic anemia hemorrhagic diathesis hemorrhagic stroke hepatic abscess hepatic adenoma hepatic agenesis hepatic amyloidosis hepatic calcification hepatic cirrhosis hepatic cyst hepatic cysts hepatic ductopenia hepatic encephalopathy hepatic failure hepatic fibrosis hepatic granulomatosis hepatic hemangioma hepatic infarction hepatic mastocytosis hepatic necrosis hepatic steatosis hepatocellular adenoma hepatocellular carcinoma hepatocellular loss hepatocellular necrosis hepatojugular reflux hepatopulmonary fusion hereditary elliptocytosis hereditary pyropoikilocytosis herniated disc herniated disk heroin addiction heroin dependence herpes encephalitis herpetiform vesicle herpetiform vesicles heterochromia irides heterochromia iridis heterochromia iris heteronymous hemianopia heteronymous hemianopsia heterotopic ossification hiatal hernia hiatus hernia hidden ear hidradenitis suppurativa high albumin high cholesterol high esr high forehead high hypermetropia high hyperopia high myopia high palate high scapula high stepping high tsh highly sensitive hindfoot equinus hip arthralgia hip contracture hip contractures hip dislocation hip dysplasia hip osteoarthritis hip pain hip stiffness hip subluxation hippocampal atrophy hippocampal dysgenesis hippocampal microinfarct hippocampal sclerosis hirano bodies hirano body hirschsprung disease hirschsprung megacolon hirsute forehead histiocytoid cardiomyopathy hitchhiker thumb hoarse cry hoarse voice hodgkin disease hodgkin lymphoma hoffmann sign hollow cheek hollow cheeks holosystolic murmur homonymous hemianopia homonymous hemianopsia honeycomb cyst honeycomb cysts honeycomb lung hood eyelid hooded eyelid hook nose hooked clavicle hooked nose hordeolum externum hordeolum internum horizontal acetabulae horizontal eyebrow horizontal nystagmus horizontal rib horizontal ribs horizontal sacrum horner syndrome horseshoe kidney horseshoe kidneys horseshoe lung hot flash hot flashes human tail humeral bowing humeral exostoses humeral exostosis humeral fracture humeral hypoplasia humeral pseudarthrosis humeral sclerosis humeral shortening humeroradial synostosis humeroscapular synostosis humeroulnar synostosis humerus fracture humerus varus humoral immunodeficiency hunch back hunched back husky voice hutchinson incisor hyaline bodies hyaline body hyaline cast hyaline casts hyaline membrane hyaline membranes hydatidiform mole hydroa vacciniforme hydrocele testis hydropic placenta hydrops fetalis hydroxyphenylpyruvic aciduria hyperactive behavior hyperactive behaviour hyperchloremic acidosis hyperconvex fingernail hyperconvex fingernails hyperconvex nail hyperconvex toenail hyperechogenic kidney hyperechogenic kidneys hyperechogenic liver hyperechogenic pancreas hyperelastic skin hyperemesis gravidarum hyperextensible digit hyperextensible digits hyperextensible finger hyperextensible fingers hyperextensible joint hyperextensible joints hyperextensible skin hyperextensible thumb hypergonadotrophic hypogonadism hypergonadotropic amenorrhea hypergonadotropic hypogonadism hyperinsulinaemic hypoglycaemia hyperinsulinemia hypoglycemia hyperinsulinemic hypoglycemia hyperkeratosis follicularis hyperkeratosis pilaris hyperkeratotic papule hyperkinetic movement hyperkinetic movements hyperkinetic seizure hyperkinetic seizures hypermature neutrophil hypermature neutrophils hypermelanotic macule hypermetric saccade hypermetric saccades hypernasal speech hypernasal voice hypernatremic dehydration hyperopic astigmatism hyperosmolar dehydration hyperpepsinogenemia i hyperpigmented fundi hyperpigmented fundus hyperpigmented genitalia hyperpigmented lesion hyperpigmented macule hyperpigmented macules hyperpigmented nevi hyperpigmented nevus hyperpigmented nodule hyperpigmented papule hyperpigmented scrotum hyperpigmented spot hyperpigmented spots hyperpigmented streak hyperpigmented streaks hyperplastic antitragus hyperplastic endometrium hyperplastic tragus hyperreflexia proximally hyperreninemic hyperaldosteronism hypersensitivity pneumonitis hypersideremic anaemia hypersideremic anemia hypertensive crisis hypertensive retinopathy hypertonic dehydration hypertonic seizure hypertonic seizures hypertrichosis cubiti hypertrichosis universalis hypertrophic antitragus hypertrophic cardiomyopathy hypertrophic clitoris hypertrophic gingivitis hypertrophic hemangioma hypertrophic ichthyosis hypertrophic muscle hypertrophic muscles hypertrophic tragus hypnagogic hallucination hypnagogic hallucinations hypnic headache hypnopompic hallucination hypnopompic hallucinations hypocalcemic seizure hypocalcemic seizures hypocalcemic tetany hypochromic anaemia hypochromic anemia hypoechogenic liver hypoelastic skin hypoglycaemic coma hypoglycemic coma hypoglycemic encephalopathy hypoglycemic episode hypoglycemic episodes hypoglycemic seizure hypoglycemic seizures hypogonadotrophic hypogonadism hypogonadotropic hypogonadism hypokalemic alkalosis hypoketotic hypoglycemia hypokinetic seizure hypokinetic seizures hypomature enamel hypomelanotic macule hypomelanotic macules hypometric saccade hypometric saccades hypomimic face hyponasal speech hypophosphatemic rickets hypopigmented eyebrow hypopigmented genitalia hypopigmented macule hypopigmented skin hypopigmented streak hypopigmented streaks hypoplastic acetabula hypoplastic acetabulae hypoplastic acetabulum hypoplastic anaemia hypoplastic anemia hypoplastic antihelix hypoplastic antitragus hypoplastic areola hypoplastic areolae hypoplastic biceps hypoplastic bladder hypoplastic brainstem hypoplastic calcaneus hypoplastic cerebellum hypoplastic clavicle hypoplastic clavicles hypoplastic clitoris hypoplastic cochlea hypoplastic colon hypoplastic digit hypoplastic digits hypoplastic ear hypoplastic earlobe hypoplastic earlobes hypoplastic ears hypoplastic epiglottis hypoplastic feet hypoplastic fibula hypoplastic finger hypoplastic fingernail hypoplastic fingers hypoplastic foot hypoplastic gallbladder hypoplastic hallux hypoplastic hand hypoplastic hands hypoplastic heart hypoplastic helices hypoplastic helix hypoplastic hippocampus hypoplastic humerus hypoplastic ilia hypoplastic ilium hypoplastic intestine hypoplastic intestines hypoplastic iris hypoplastic ischia hypoplastic ischii hypoplastic ischium hypoplastic kidney hypoplastic kidneys hypoplastic labia hypoplastic labium hypoplastic larynx hypoplastic lobule hypoplastic lobules hypoplastic lung hypoplastic lungs hypoplastic mandible hypoplastic metacarpal hypoplastic metacarpals hypoplastic metatarsal hypoplastic metatarsals hypoplastic myelodysplasia hypoplastic nail hypoplastic nails hypoplastic nares hypoplastic naris hypoplastic nipple hypoplastic nipples hypoplastic nose hypoplastic nostril hypoplastic nostrils hypoplastic ovary hypoplastic palate hypoplastic pancreas hypoplastic patella hypoplastic patellae hypoplastic pelvis hypoplastic phalanges hypoplastic phalanx hypoplastic philtrum hypoplastic pinna hypoplastic prostate hypoplastic pubis hypoplastic radii hypoplastic radius hypoplastic rib hypoplastic ribs hypoplastic sacrum hypoplastic scapula hypoplastic scapulae hypoplastic scrotum hypoplastic spleen hypoplastic sternum hypoplastic teeth hypoplastic testes hypoplastic testis hypoplastic thumb hypoplastic thumbnail hypoplastic thumbs hypoplastic thyroid hypoplastic tibia hypoplastic toe hypoplastic toenail hypoplastic toenails hypoplastic toes hypoplastic tongue hypoplastic tonsil hypoplastic tonsils hypoplastic tragus hypoplastic ulna hypoplastic uterus hypoplastic uvula hypoplastic vagina hypoproteinemic edema hypoproteinemic oedema hypothalamic adhesion hypothalamic atrophy hypothalamic dysgenesis hypothalamic gliosis hypothalamic hamartoma hypothalamic hypothyroidism hypothenar hypoplasia hypotonia early hypotonic facies hypotonic seizure hypotonic seizures hypotrophic antitragus hypotrophic cheekbone hypotrophic eyebrow hypotrophic eyelid hypotrophic forehead hypotrophic mandible hypotrophic maxilla hypotrophic midface hypotrophic nose hypotrophic pharynx hypotrophic tooth hypotrophic tragus hypovolemic shock ichthyosis follicularis ichthyosis lammellaris ichthyotic skin idiopathic anaphylaxis idiopathic thrombocytopenia iga deficiency iga hypergammaglobulinemia iga nephropathy igd deficiency igd hypergammaglobulinemia ige deficiency igg deficiency igm deficiency ileal adenocarcinoma ileal atresia ileal ulcer ileocecal ulcer ileoileal intussusception iliac abnormalities iliac abnormality iliac horn iliac horns illusory aura illusory auras im hematoma im myxoma imbalanced walk immotile cilia immotile cilium immotile sperm immune deficiency immune dysregulation immune thrombocytopenia immunoglobulin abnormality immunoglobulin deficiency immunologic hypersensitivity immunological abnormality impact cerumen impact teeth impact tooth impacted cerumen impacted teeth impacted tooth impaired continence impaired convergence impaired gait impaired gluconeogenesis impaired mastication impaired proprioception impaired saccade impaired saccades impaired spermatogenesis impaired topognosis impaired vision imperforate anus imperforate hymen inadequate sweating inappropriate behavior inappropriate behaviour inappropriate cry inappropriate crying inappropriate laughter incisional hernia incisor macrodontia incline forehead inclined forehead incomitant strabismus incompetent cervix incomplete achromatopsia incomplete cheiloschisis incomprehensible speech increase aldosterone increase appetite increase bilirubin increase bmi increase bp increase bun increase chylomicron increase cpk increase creatinine increase dlco increase ferritin increase fracture increase gfr increase haemoglobin increase hb increase hct increase hematocrit increase hemoglobin increase hemolysis increase inr increase iop increase kco increase lacrimation increase libido increase mch increase mchc increase mcv increase overbite increase phlegm increase reflex increase reticulocyte increase ripa increase sweating increase tear increase testosterone increase transaminase increase triglyceride increase whr increased aldosterone increased appetite increased bilirubin increased bmi increased bp increased bun increased chylomicrons increased cpk increased creatinine increased dlco increased ferritin increased fractures increased gfr increased haemoglobin increased hb increased hct increased hematocrit increased hemoglobin increased hemolysis increased inr increased iop increased kco increased lacrimation increased libido increased mch increased mchc increased mcv increased overbite increased phlegm increased reflexes increased reticulocytes increased ripa increased sweating increased tears increased testosterone increased transaminases increased triglycerides increased whr indent helix indented helix indistinct philtrum indurate nodule indurate skin indurated nodule indurated skin ineffective erythropoiesis ineffective planning inelastic skin infantile encephalopathy infantile glaucoma infantile hydrocele infantile hypercalcemia infantile hypotonia infantile spasm infantile spasms infect joint infected joint infectious encephalitis infective endocarditis inflame gum inflamed gums inflammatory arteriopathy inflammatory myopathy inflammed ovary infraorbital crease infraorbital creases infraorbital fold infraorbital pigmentation infratentorial atrophy infundibular cyst ingrown eyelash ingrown eyelashes ingrown nail inguinal abscess inguinal freckling inguinal hernia insect allergy insertional polydactyly inspiratory crackle inspiratory crackles inspiratory stridor insulin insensitivity insulin resistance intellectual deterioration intellectual disability intellectual impairment intention tremor intercalary polydactyly intercostal retraction intercostal retractions intercrural pterygium interdigital loop interdigital loops interface hepatitis interhemispheric cyst interhypothalamic adhesion intermediate uveitis intermenstrual bleeding intermittent claudication intermittent diarrhea intermittent diarrhoea intermittent fever intermittent hyperventilation intermittent hypothermia intermittent icterus intermittent jaundice intermittent overbreathing intermittent thrombocytopenia internal bleeding internal haemorrhage internal hemorrhage internal ophthalmoplegia internuclear ophthalmoplegia interpedicular narrowing intersex genitalia interstitial emphysema interstitial nephritis interstitial pneumonitis intertemporal narrowing intertemporal widening intestinal atresia intestinal bleeding intestinal blockage intestinal carcinoid intestinal duplication intestinal edema intestinal fistula intestinal haemorrhage intestinal hemangioma intestinal hemorrhage intestinal hypoperistalsis intestinal hypoplasia intestinal inflammation intestinal ischemia intestinal lymphangiectasia intestinal lymphedema intestinal malabsorption intestinal malrotation intestinal obstruction intestinal oedema intestinal perforation intestinal polyp intestinal polyposis intestinal polyps intestinal pseudoobstruction intimal fibrosis intracerebral calcification intracerebral calcifications intracerebral haemorrhage intracerebral hemorrhage intracranial aneurysm intracranial calcification intracranial calcifications intracranial haemorrhage intracranial hemorrhage intracranial hypertension intracranial hypotension intracranial meningioma intractable diarrhea intractable diarrhoea intrahepatic cholestasis intralobar nephroblastomatosis intralobar sequestration intralobular line intralobular lines intramuscular haematoma intramuscular haemorrhage intramuscular hematoma intramuscular hematomas intramuscular hemorrhage intramuscular myxoma intraocular melanoma intrapartum fever intrapulmonary haemorrhage intrapulmonary hemorrhage intrapulmonary sequestration intrapulmonary shunt intrapulmonary shunting intrarenal abscess intrarenal reflux intraretinal exudate intraretinal fluid intraretinal haemorrhage intraretinal hemorrhage intrascapular pain intrasutural bone intrasutural bones intratesticular abscess intrathoracic hemangioma intrauterine retardation intraventricular haemorrhage intraventricular hemorrhage intrusion symptom invaginated nipple invaginated nipples invert eyelid inverted eyelid inverted nipple inverted nipples involuntary movement involuntary movements involutional entropion iridocorneal synechia iridolenticular adhesion iridolenticular adhesions iris atrophy iris coloboma iris cyst iris degeneration iris flocculi iris hamartoma iris hamartomas iris hypoperfusion iris hypopigmentation iris hypoplasia iris melanoma iris neovascularization iris nevus irregular astigmatism irregular dentition irregular endplate irregular endplates irregular epiphyses irregular epiphysis irregular heartbeat irregular hyperpigmentation irregular menses irregular menstruation irregular metacarpal irregular metacarpals irregular metaphyses irregular olecranon irregular patella irregular patellae irregular period irregular periods irregular phalanges irregular phalanx irregular pupil irregular respiration irregular teeth ischaemic stroke ischemic stroke isometric tremor itchy eye itchy eyes itchy feet itchy foot itchy palm itchy skin ivory epiphyses ivory epiphysis j wave jamais vu jaw ankylosis jaw claudication jaw contracture jaw hyperreflexia jaw hyporeflexia jaw neoplasm jaw pain jaw swell jaw swelling jejunal adenocarcinoma jejunal atresia jejunal diverticula jejunal diverticulum jejunoileal diverticula jejunoileal diverticulum jejunoileal ulceration join teeth joined teeth joint contracture joint contractures joint disease joint dislocation joint dislocations joint haemorrhage joint hemorrhage joint hyperextensibility joint hyperflexibility joint hypermobility joint inflammation joint instability joint laxity joint pain joint pains joint stiffness joint subluxation joint swell joint swelling junctional split juvenile cataract juvenile nephronophthisis juvenile ra juxtafoveal telangiectasia juxtaphrenic peak kalnienk vision keratin cyst keratitis sicca keratoconjunctivitis sicca keratosis nigricans keratosis pilaris ketotic hypoglycemia keyhole iris kidney angiomyolipoma kidney cancer kidney cyst kidney damage kidney degeneration kidney disease kidney fibrosis kidney inflammation kidney malformation kidney pain kidney stone kidney stones kinetic tremor kininogen deficiency kink brainstem kink hair kinked brainstem kinked hair knapp streak knapp streaks knee clonus knee contracture knee contractures knee dislocation knee dislocations knee hyperextension knee osteoarthritis knee pain knee stiffness knock knee knock knees knuckle dimple knuckle pad koenen tumor koenen tumour kommerell diverticulum l5 sacralization labial abscess labial adhesion labial agglutination labial angioectasias labial cyanosis labial hemangioma labial hypertrophy labial hypoplasia labial lentigo labial pseudohypertrophy labial telangiectasia labiomental fasciculation labiomental fasciculations labor breathing laboratory abnormality labored breathing labyrinthine aplasia lack initiative lacks initiative lacrimation abnormality lactase deficiency lactation incapacity lactescent serum lactic acidemia lactic acidosis lactose intolerance lacunar stroke ladder nail lafora bodies lafora body lambdoidal craniosynostosis lamellar cataract language delay language delayed language disorder language impairment large breast large calvaria large carpal large carpals large cheek large cheeks large cranium large ear large earlobe large ears large elbow large epiphyses large epiphysis large eye large eyeball large eyeballs large eyes large face large facies large feet large fontanel large fontanelle large fontanelles large fontanels large foot large forehead large halluces large hallux large hand large hands large head large helix large incisor large jaw large kidney large kidneys large knee large mandible large maxilla large midface large mouth large nares large naris large nose large pelvis large pinna large pinnae large placenta large platelet large platelets large premaxilla large skull large tailbone large testicle large testicles large testis large thyroid large tongue large tooth large tragus laryngeal abnormalities laryngeal abnormality laryngeal anomalies laryngeal anomaly laryngeal atresia laryngeal calcification laryngeal calcifications laryngeal cancer laryngeal carcinoma laryngeal cleft laryngeal cyst laryngeal dystonia laryngeal edema laryngeal hemangioma laryngeal hypoplasia laryngeal obstruction laryngeal oedema laryngeal papilloma laryngeal papillomas laryngeal papillomatosis laryngeal paralysis laryngeal stenosis laryngeal stidor laryngeal stridor laryngeal web laryngeal webs laryngotracheal cleft laryngotracheal stenosis late chronotype late insomnia latent hypermetropia latent hyperopia latent myopia latex allergy lax joint lax joints lax skin lazy eye leave hemiplegia leave isomerism leave shift left hemiplegia left isomerism left shift leg dystonia leg edema leg hyperreflexia leg oedema leg pain leg paralysis leg weakness legal blindness lemon sign lens agenesis lens coloboma lens disease lens dislocation lens issue lens luxation lens opacities lens opacity lens subluxation lenticular astigmatism leprechaun facies leptomeningeal enhancement leucine crystalluria leukocyte cylindruria leung cusp lewy bodies lewy body lichen pilaris lid lag lid laxity lid twitch ligamentous laxity light hypersensitivity limb abnormality limb anomaly limb apraxia limb ataxia limb contracture limb contractures limb duplication limb dysmetria limb dystonia limb fasciculation limb fasciculations limb hypertonia limb incoordination limb myoclonus limb pain limb shorten limb shortening limb tremor limb undergrowth limb weakness limbal dermoid limbal edema limbal neovascularization limbal oedema limbic malformation linear atelectasis linear hyperpigmentation lingual abnormality lingual angioectasias lingual atrophy lingual dystonia lingual fasciculation lingual fasciculations lingual fibrillation lingual fibrillations lingual furrow lingual hamartoma lingual hyperplasia lingual hypertrophy lingual hypokinesia lingual hypoplasia lingual inflammation lingual lobule lingual lobules lingual nodule lingual nodules lingual prolapse lingual prominence lingual protrusion lingual retraction lingual telangiectasia lingual thyroid lingual twitching lingual wasting lingue plicata lip abnormality lip cyanosis lip discoloration lip fissure lip freckle lip hyperpigmentation lip lentigo lip pit lip telangiectases lip telangiectasia lip tremor lip tumor lip tumour lipemia retinalis lipoid pneumonia lipomatous tumor lipomatous tumour lisch nodule lisch nodules little fontanelle little mandible livedo racemosa livedo reticularis livedoid dermatitis liver abnormality liver abscess liver agenesis liver calcification liver calcifications liver cancer liver cirrhosis liver cyst liver cysts liver disease liver dysfunction liver failure liver fibrosis liver hemangioma liver inflammation liver spot liver spots liver steatosis liver tumor liver tumour lobar holoprosencephaly lobeless ear lobeless ears lobular glomerulopathy lobulate tongue lobulated tongue localise hirsutism localise neuroblastoma localise osteoporosis localise periodontitis localised hirsutism localised neuroblastoma localised osteoporosis localised periodontitis localize hirsutism localize neuroblastoma localize osteoporosis localize periodontitis localized hirsutism localized neuroblastoma localized osteoporosis localized periodontitis locomotor delay long chin long clavicle long clavicles long coccyx long collarbone long ear long ears long eyebrow long eyebrows long eyelash long eyelashes long face long facies long feet long fibula long finger long fingers long foot long halluces long hallux long metacarpal long metacarpals long neck long nose long palm long penis long philtrum long tailbone long thorax long thumb long toe long toes long ulna long uvula longitudinal ridging loose skin looser zone looser zones lop ear lose smell lose taste losing word losing words lost smell lost taste loud snoring loudness intolerance low albumin low alp low esr low hematocrit low intelligence low t4 low weight lower consciousness lowered consciousness lowset ear lowset ears lumbar hemivertebrae lumbar hyperlordosis lumbar hypertrichosis lumbar kyphoscoliosis lumbar kyphosis lumbar lordosis lumbar platyspondyly lumbar scoliosis lumbosacral hemangioma lumbosacral hirsutism lumbosacral meningocele lung abscess lung adenocarcinoma lung cancer lung cyst lung disease lung edema lung fibroma lung hypoplasia lung infiltrates lung oedema lung tumor lung tumour lunotriquetral synostosis lunula absent lunulae absent lupus anticoagulant lupus nephritis luse bodies luse body lusorian artery lymphatic disease lymphatic obstruction lymphocytoma cutis lymphoid cholangitis lymphoid leukaemia lymphoid leukemia lymphoproliferative disorder lymphoproliferative disorders macrocytic anaemia macrocytic anemia macronodular cirrhosis macrosaccadic oscillation macrosaccadic oscillations macroscopic hematuria macrovesicular steatosis macula abnormality macular abnormality macular agenesis macular amyloidosis macular atrophy macular coloboma macular crystal macular crystals macular degeneration macular dot macular dots macular drusen macular dystrophy macular edema macular exudate macular exudates macular exudation macular fleck macular flecks macular haemorrhage macular hemorrhage macular hole macular hyperpigmentation macular hypopigmentation macular hypoplasia macular oedema macular pucker macular purpura macular scar macular scarring macular schisis macular telangiectasia macular thickening maculopapular exanthema madelung deformity maintenance insomnia malaligned teeth malar anomaly malar excess malar flattening malar hyperplasia malar hypertrophy malar hypoplasia malar prominence malar rash male anorgasmia male hypogonadism male infertility male pseudohermaphroditism malformed auricle malformed auricles malformed ear malformed ears malformed ossicle malformed ossicles malformed pinna malformed pinnae malformed teeth malignant hyperthermia malignant melanoma malignant mesothelioma malignant schwannoma malignant synovioma mallet finger malpositioned teeth mandible prognathism mandibular aplasia mandibular cleft mandibular deficiency mandibular excess mandibular hyperostosis mandibular hyperplasia mandibular hypoplasia mandibular hyporeflexia mandibular macrognathia mandibular micrognathia mandibular osteomyelitis mandibular pain mandibular prognathia mandibular prognathism mandibular retrognathia mandibular retrusion mandibulofacial dysostosis marfanoid habitus mark hypotrichosis marked hypotrichosis masklike facies mastoid agenesis maternal diabetes maternal hyperglycemia maternal hyperphenylalaninemia maternal hypertension maternal oligohydramnios maternal seizure maternal seizures maternal thrombophilia maxillary deficiency maxillary excess maxillary hyperplasia maxillary hypoplasia maxillary macrognathia maxillary micrognathia maxillary prognathia maxillary prominence maxillary retrognathia maxillary retrusion maxillary torus maxillozygomatic hypoplasia meat allergy meatal stenosis meatus stenosis mechanical entropion mechanical ileus meckel diverticulum meconium ileus meconium peritonitis meconium xenobiotic medial degeneration mediastinal lymphadenopathy mediastinal mass mediastinal teratoma medication crystalluria medullary nephrocalcinosis megakaryocyte dysplasia megaloblastic anaemia megaloblastic anemia melanocytic naevus melanocytic nevi melanocytic nevus melanosis oculi melanosis oculus membranoproliferative glomerulonephritis membranous anomaly membranous cataract membranous glomerulonephritis membranous nephropathy membranous tracheobronchomalacia membranous vitreous memory impairment memory loss memory problem memory problems menetrier disease meningeal calcification menopause praecox menstrual abnormalities menstrual abnormality menstrual irregularities menstrual irregularity menstrual spotting mental clouding mental deficiency mental deterioration mental disorientation mental fatigue mental fog mental impairment mental retardation mental slowness mesangial abnormality mesangial hypercellularity mesangial proliferation mesangial sclerosis mesangiocapillary glomerulonephritis mesenteric cyst mesoaxial polydactyly mesomelic dwarfism metabolic acidosis metabolic alkalosis metabolic ketoacidosis metabolism abnormality metacarpal hypoplasia metacarpal osteolysis metacarpal pseudoepiphyses metacarpal synostosis metacarpals osteolysis metacarpophalangeal synostosis metallic taste metaphyseal chondrodysplasia metaphyseal cup metaphyseal cupping metaphyseal dapple metaphyseal dappling metaphyseal dysostosis metaphyseal dysplasia metaphyseal enchondromatosis metaphyseal flaring metaphyseal fraying metaphyseal irregularities metaphyseal irregularity metaphyseal rarefaction metaphyseal sclerosis metaphyseal splay metaphyseal splaying metaphyseal spur metaphyseal spurs metaphyseal striation metaphyseal striations metaphyseal widening metaphyses flare metaphyses flared metastatic angiosarcoma metatarsal fracture metatarsal osteolysis metatarsal synostosis metatarsus adductovarsus metatarsus adductus metatarsus valgus metatarsus varus methamphetamine addiction methamphetamine dependence methylcobalamin deficiency methylmalonic acidemia methylmalonic aciduria methylphenidate addiction methylphenidate dependence metopic craniosynostosis metopic depression metopic synostosis mevalonate aciduria michel deformity microcytic anaemia microcytic anemia micromelic dwarfism micronodular cirrhosis microsaccadic pursuit microscopic hematuria microscopic nephrocalcinosis microvesicular steatosis microvillus inclusion microvillus inclusions midclavicular aplasia midclavicular hypoplasia middiastolic murmur midface deficiency midface hyperplasia midface hypoplasia midface retrusion midfacial excess midfacial prominence midgut malrotation midnasal atresia midnasal stenosis midphalangeal hypoplasia midshaft hypospadias midsystolic murmur midthoracic hemivertebrae migraine headache migraine headaches migratory arthritis migratory polyarthritis mild albuminuria mild fever mild hypermetropia mild hyperopia mild hypothyroidism mild microcephaly mild myopia mild proteinuria miliary osteoma milk allergy milk intolerance milk spot millium cyst mimic spasm mimic spasms mineralocorticoid excess mineralocorticoid insufficiency mini ear mini stroke minicore myopathy minifascicle formation mirror movement mirror movements misalign eye misaligned eyes miss bicuspid miss canine miss eyeball miss eyebrow miss eyelash miss eyelid miss heartbeat miss incisor miss kidney miss molar miss nose miss nostril miss premaxilla miss premolar miss rib miss sinus miss teeth miss toe miss tongue miss uvula missed heartbeat misshapen teeth misshapened teeth missing bicuspid missing canine missing eyeball missing eyebrow missing eyebrows missing eyelashes missing eyelids missing incisors missing kidney missing molar missing nose missing nostrils missing premaxilla missing premolar missing ribs missing sinuses missing teeth missing toes missing tongue missing uvula mitochondrial abnormalities mitochondrial abnormality mitochondrial depletion mitochondrial dysfunction mitochondrial encephalopathy mitochondrial hypertrophy mitochondrial myopathy mitochondrial swelling mitral atresia mitral incompetence mitral insufficiency mitral regurgitation mitral stenosis mitten deformity mittendorf dot mixed astigmatism mixed cirrhosis mixed polyneuropathy mizuo phenomenon mnemonic aura mnemonic auras moderate albuminuria moderate hypermetropia moderate hyperopia moderate myopia moderate proteinuria molluscoid pseudotumor molluscoid pseudotumors molluscum contagiosum mondini malformation mongolian spot mongoloid slant mono nostril monoclonal hypergammaglobulinemia monocular strabismus mononeuritis multiplex monotonic speech mood alteration mood alterations mood change mood changes mood lability mood swing mood swings moon face moon facies morbilliform rash morbus basedow morbus crohn morbus kienboeck morbus koehler morbus scheuermann morgagni hernia motor aphasia motor delay motor deterioration motor impersistence motor polyneuropathy motor regression motor retardation motor seizure motor tic motor tics motormental retardation mottle pigmentation mottled pigmentation mouches volantes mouth neoplasm mouth sore mouth tumor mouth tumour mouth ulcer mouth watering movement disorder moyamoya phenomenon mozart ear mrsa infection mucinous histiocytosis mucinous neoplasm mucocutaneous candidiasis mucoid diarrhea mucosal telangiectasiae mucous diarrhea mucous diarrhoea mulberry molar multicystic kidney multicystic kidneys multifocal meningiomata multifocal seizure multifocal seizures multilobulated spleen multinodular goiter multinodular goitre multinucleated podocytes multiple birthmark multiple birthmarks multiple diastema multiple diastemata multiple enchondromatosis multiple exostoses multiple exostosis multiple fracture multiple fractures multiple lentigines multiple lentigo multiple lipoma multiple lipomas multiple meningiomata multiple mononeuropathy multiple myeloma multiple neuritis multiple neurofibroma multiple neurofibromas multiple pterygia multiple pterygium multiple pupil multiple pupils multiple trichilemmomas multiple trichilemmomata multisutural craniosynostosis muscle ache muscle atrophy muscle cramp muscle cramps muscle degeneration muscle eosinophilia muscle fasciculation muscle fatigue muscle fibrillation muscle flaccidity muscle haemorrhage muscle hemorrhage muscle hyperirritability muscle hypertonia muscle hypertrophy muscle hypoplasia muscle hypotonia muscle hypotrophy muscle inflammation muscle lipidosis muscle mounding muscle pain muscle rigidity muscle spasm muscle spasms muscle spasticity muscle stiffness muscle twitch muscle waste muscle wasting muscle weakness muscular abnormality muscular atrophy muscular dystrophy muscular edema muscular hypertrophy muscular hypotonia muscular oedema muscular spasticity muscular weakness musculotendinous retraction musty odor musty odour myasthenic weakness myelin outfoldings myelin tomacula myelodysplastic syndrome myeloid leukaemia myeloid leukemia myeloproliferative disorder myocardial bridging myocardial calcification myocardial fibrosis myocardial infarction myocardial necrosis myocardial steatosis myoclonic absence myoclonic absences myoclonic jerk myoclonic jerks myoclonic seizure myoclonic spasm myoclonic spasms myoclonic tremor myoclonus seizure myoclonus seizures myofiber disarray myofibrillar change myofibrillar changes myofibrillar myopathy myoglobin cast myoglobin casts myokymia orbicularis myopathic change myopathic changes myopathic electromyogram myopathic face myopathic facies myopic astigmatism myxoid liposarcoma naevus anaemicus naevus sebaceous nail disease nail dyschromia nail dysplasia nail dystrophy nail hypoplasia nail overcurvature nail pit nail pits nail pitting nail psoriasis nail pterygium nail ridging nail tumor nail tumour narrow chest narrow face narrow facies narrow finger narrow fingers narrow foot narrow forehead narrow hand narrow hands narrow jaw narrow mandible narrow maxilla narrow mouth narrow nail narrow nares narrow naris narrow nose narrow nostril narrow nostrils narrow palate narrow palm narrow pelvis narrow penis narrow philtrum narrow shoulder narrow shoulders narrow thorax narrow toe narrow uvula nasal abnormality nasal allergies nasal allergy nasal anomaly nasal blockage nasal chondritis nasal congestion nasal deformity nasal discharge nasal dryness nasal elongation nasal flare nasal flaring nasal haemorrhage nasal hemorrhage nasal hyperplasia nasal hypertrophy nasal hypoplasia nasal inflammation nasal malformation nasal neoplasm nasal obstruction nasal polyp nasal polyposis nasal polyps nasal regurgitation nasal speech nasal tumor nasal tumour nasal ulcer nasal underdevelopment nasal voice nasofrontal encephalocele nasopharyngeal neoplasm nasopharyngeal teratoma natal teeth natal tooth near esotropia near exotropia near sight near sighted near sightedness neck arthritis neck hypertonia neck pain neck pterygia neck pterygium neck stiffness neck web neck webbing necrotizing encephalopathy necrotizing enterocolitis necrotizing ileitis necrotizing myopathy negative affectivity negative chorea nemaline bodies nemaline body nemaline rod nemaline rods neocortical dysplasia neonatal asphyxia neonatal hyperbilirubinemia neonatal hypoglycemia neonatal hypoparathyroidism neonatal hypoproteinemia neonatal hypotonia neonatal jaundice neonatal omphalitis neonatal pneumothorax neonatal seizure neonatal sepsis neonatal teeth nephrogenic rest nephrotic syndrome nerve tumor nerve tumour neurenteric cyst neuritic plaque neuritic plaques neuroblastic tumor neuroblastic tumour neurocardiogenic syncope neurocytic rosette neurodegenerative disease neurodevelopmental abnormality neurodevelopmental delay neurodevelopmental regression neuroectodermal neoplasm neuroendocrine neoplasia neuroendocrine neoplasm neuroepithelial neoplasm neurofibrillary tangle neurofibrillary tangles neurogenic bladder neurogenic claudication neurogenic strabismus neurohypophysis agenesis neurohypophysis dysplasia neurohypophysis hypoplasia neurologic abnormalities neurologic abnormality neurologic deterioration neurological abnormality neuromuscular dysphagia neuronal heterotopia neuronal lipopigments neuronal loss neuropathic arthropathy neurophysiologic abnormalities neurophysiologic abnormality neutral hyperaminoaciduria nevocellular nevi nevocellular nevus nevus anemicus nevus comedonicus nevus flammeus nevus roseus nevus sebaceous nevus sebaceus nevus simplex nevus spilus nicotine addiction nicotine dependence night blindness night gasp night gasping night sweat night sweats night terror nipple hypoplasia no appetite no eyeball nocturnal enuresis nocturnal hyperhidrosis nocturnal hypopnea nocturnal hypoventilation nocturnal lagophthalmos nocturnal seizure nocturnal seizures nodular goiter nodular goitre nodular melanoma nodular mesangiosclerosis noise sensitivity noisy breathe noisy breathing nominal aphasia noncancerous mole noncirrhotic nodulation noncommunicating hydrocephalus noncompaction cardiomyopathy nongranulomatous uveitis nonimmune hydrops nonketotic hyperglycinemia nonketotic hypoglycemia nonmotile sperm nonproductive cough nonprogressive encephalopathy nonsyndromal hydrocephalus normochromic anaemia normochromic anemia normocytic anaemia normocytic anemia nose bleed nose bleeding nose cancer nose chondritis nostril anteverted nostril coloboma nostrils anteverted notch eyelid notch helix notch nail notch pupil notch thighbone notch tragus notch ulna notched eyelid notched helix notched nail notched pupil notched thighbone notched tragus notched ulna nrem parasomnia nuchal cord nuchal rigidity nuclear cataract numerous mole numerous moles numerous nevi numerous nevus nummular dermatitis nummular eczema nut allergy o odontoideum oblique astigmatism obliterate fontanelle obliterated fontanelles obliterative bronchiolitis obstructive azoospermia obstructive shock obtundation status occasional neurofibroma occasional neurofibromas occipital encephalocele occipital meningocele occipital meningoencephalocele occipital myelomeningocele occipital neuralgia occipital plagiocephaly occlusion anomaly occult hematuria occupational disability ocular absence ocular albinism ocular coloboma ocular colobomas ocular depression ocular dyssynergia ocular flutter ocular hypertelorism ocular hypertension ocular hypotelorism ocular hypotony ocular inflammation ocular itch ocular melanocytosis ocular melanosis ocular pain ocular proptosis ocular pruritus oculodermal melanocytosis oculogyric crisis oculomotor abnormalities oculomotor abnormality oculomotor apraxia oculomotor neuropathy oculomotor synkinesis oculosympathetic palsy odontogenic neoplasm odontogenic tumor odontogenic tumour odontoid hypoplasia oesophagus ulcer oesophagus ulceration ogival palate olfactory aura olfactory auras olfactory esthesioneuroblastoma olfactory hallucination olivary degeneration olivopontocerebellar atrophy olivopontocerebellar degeneration olivopontocerebellar hypoplasia oncocytic cardiomyopathy oncological abnormality one nostril open bite open comedo open mouth open operculum open suture open sutures ophthalmoplegia externa opioid addiction opioid dependence oppenheim reflex oppenheim sign opportunistic infection optic ataxia optic atrophy optic glioma optic neuritis optic neuropathy oral aversion oral bleeding oral blistering oral cleft oral clefting oral erythroplakia oral erythroplasia oral haemorrhage oral hemorrhage oral leucoplakia oral leukokeratosis oral leukoplakia oral leukoplasia oral melanoacanthoma oral synechia oral ulcer orange tonsil orange tonsils orange urine orbicularis myokymia orbital cleft orbital craniosynostosis orbital cyst orbital cysts orbital encephalocele orbital rhabdomyosarcoma orbital schwannoma organic aciduria organize pneumonia organizing pneumonia organoid nevus orofacial dyskinesia orofacial dyskinesias oromandibular dystonia oromotor apraxia oropharyngeal dysphagia orotic aciduria orthodromic avrt orthokeratotic hyperkeratosis orthostatic hypotension orthostatic syncope orthostatic tachycardia os odontoideum osborne wave osborne waves osmotic diarrhea ossicular malformation ossify fibroma ossifying fibroma osteocartilaginous exostoses osteocartilaginous exostosis osteochondritis dissecans osteochondrosis dissecans osteogenic sarcoma osteoid osteoma osteoma cutis osteopathia striata osteoporotic humerus osteoporotic metatarsal osteoporotic tarsal osteoporotic tarsals otitis externa otitis media otitis medium oval face oval facies oval macrocytosis oval pupil ovarian cancer ovarian carcinoma ovarian cyst ovarian disease ovarian fibroma ovarian gonadoblastoma ovarian neoplasia ovarian neoplasm ovarian teratoma ovarian thecoma ovarian tumor ovarian tumour overactive bladder overactive thyroid overfolded ear overfolded ears overfolded helices overfolded helix overlap finger overlap toe overlapping fingers overlapping toe overlapping toes overly sensitive override aorta override scrotum override toe overriding aorta overriding scrotum overriding toes ovine arch ovoid vertebra ovoid vertebrae oxalate nephrolithiasis oxidative stress p mitrale p pulmonale paediatric glaucoma pain insensitivity painful menstruation painful swallowing painful tongue palatal angioectasia palatal anomaly palatal edema palatal hole palatal myoclonus palatal oedema palatal perforation palatal telangiectasia palatal tori palatal torus palate abnormality palate edema palate exostoses palate exostosis palate fistula palate neoplasm palate oedema palate telangiectases palate telangiectasia palate teleangiectases pale eyebrow pale eyelash pale eyelashes pale pigmentation pallidal degeneration palmar edema palmar fingernail palmar hyperhidrosis palmar hyperkeratosis palmar hyperlinearity palmar neurofibroma palmar neurofibromas palmar oedema palmar pit palmar pits palmar pruritus palmar telangiectasia palmar wart palmar warts palmomental reflex palmoplantar blistering palmoplantar erythema palmoplantar hyperhidrosis palmoplantar hyperkeratosis palmoplantar hypohidrosis palmoplantar keratoderma palmoplantar keratoses palmoplantar keratosis palmoplantar psoriasis palmoplantar pustule palmoplantar pustules palmoplantar pustulosis palpable purpura palpebral edema palpebral oedema palpebral thickening palpebronasal fold panacinar emphysema pancreas abscess pancreas divisum pancreatic abscess pancreatic adenocarcinoma pancreatic aplasia pancreatic calcification pancreatic calcifications pancreatic cancer pancreatic cyst pancreatic cysts pancreatic disease pancreatic dysplasia pancreatic fibrosis pancreatic fistula pancreatic hyperplasia pancreatic hypoplasia pancreatic inflammation pancreatic insufficiency pancreatic insulinoma pancreatic lipomatosis pancreatic lymphangiectasis pancreatic pseudocyst pancreatic steatosis pancreatic tumor pancreatic tumour panic attack papillomatous papule pappenheimer bodies pappenheimer body papulovesicular eruption paracentral scotoma paradoxical breathing paradoxical embolism paradoxical myotonia paradoxical respiration parafoveal fixation parafoveal telangiectasia paralyse diaphragm paralysed diaphragm paralytic ectropion paralytic ileus paralytic lagophthalmos paralytic strabismus paralyze diaphragm paralyzed diaphragm paramesangial deposit paramesangial deposits paranasal fullness paraseptal emphysema parasite allergy paraspinal hemangioma paraspinal neurofibroma paraspinal neurofibromas parathyroid absence parathyroid adenoma parathyroid adenomas parathyroid agenesis parathyroid aplasia parathyroid cancer parathyroid carcinoma parathyroid disease parathyroid dysfunction parathyroid dysgenesis parathyroid hyperplasia parathyroid hypoplasia parathyroid issue parathyroid neoplasia paratracheal lymphadenopathy parenchymal consolidation parietal bossing parietal encephalocele parietal foramen parietal foramina parietal meningocele parkinsonian disease parkinsonian tremor parotid oncocytoma paroxysmal af paroxysmal ataxia paroxysmal choreoathetosis paroxysmal drowsiness paroxysmal dyskinesia paroxysmal dyspnea paroxysmal dyspnoea paroxysmal dystonia paroxysmal laughter paroxysmal lethargy paroxysmal sneezing paroxysmal tachycardia paroxysmal vertigo partial albinism partial anodontia partial anosmia partial hyposmia partial seizure partial seizures partial syndactyly parungual fibroma parungual fibromas pass out passing out patchy alopecia patchy baldness patchy depigmentation patchy hyperpigmentation patchy hypopigmentation patchy osteosclerosis patellar abnormality patellar aplasia patellar clonus patellar dislocation patellar hypoplasia patellar overgrowth patellar subluxation patent urachus pathologic fracture pathologic fractures patulous urethra pavor nocturnus pe calcaneovarus pe cavus pe equinovarus pe equinus pe planus pe valgus peau d'orange pectoralis amyotrophy pectoralis hypoplasia pectus carinatum pectus deformities pectus deformity pectus excavatum pedal edema pedal oedema pediatric glaucoma pee issue pee issues peel skin peeling skin peg lateral peg laterals peg tooth pelvic asymmetry pelvic diverticulum pelvic exostoses pelvic exostosis pelvic kidney pelvic lipomatosis pelvic mass pendular nystagmus penile candidiasis penile duplication penile freckle penile freckling penile hypospadias penile melanosis penile thrush penis aplasia penis tumor penis tumour penoscrotal hypospadias penoscrotal transposition peptic ulcer percussion myotonia perianal abscess perianal erythema perianal fistula perianal rash periapical cyst periapical granuloma periapical lesion periapical radiolucencies periapical radiolucency periarticular calcification periauricular earpits periauricular fistula periauricular fistulas periauricular pit periauricular pits periauricular sinus peribronchial cuffing peribronchial thickening pericallosal lipoma pericardial constriction pericardial effusion pericardial effusions pericardial lymphangiectasia pericardial mesothelioma pericentral scotoma perifollicular erythema perifollicular fibroma perifollicular fibrosis perifollicular hyperkeratosis perifollicular inflammation periglomerular fibrosis perilobar nephroblastomatosis perineal fistula perineal hemangioma perineal hypospadias perinephric abscess perineural cyst periodic fever periodic paralysis periodic respiration periodontal disease perioral dermatitis perioral eczema perioral erythema perioral hyperkeratosis perioral hyperpigmentation perioral spasm periorbital cellulitis periorbital edema periorbital fullness periorbital hyperpigmentation periorbital melanosis periorbital oedema periorbital puffiness periorbital purpura periorbital rhytids periorbital swell periorbital swelling periorbital wrinkle periorbital wrinkles periorbital wrinkling periosteal reaction peripapillary atrophy peripapillary exudate peripapillary exudation peripheral amyelination peripheral cyanosis peripheral demyelination peripheral dysmyelination peripheral edema peripheral fixation peripheral hypermyelination peripheral hypomyelination peripheral hypotonia peripheral neuritis peripheral neuroepithelioma peripheral neuropathy peripheral neutropenia peripheral oedema peripheral schwannoma peripheral thrombosis periportal emperipolesis periportal fibrosis perirectal abscess perirenal hematoma perisylvian polymicrogyria peritoneal abscess peritoneal effusion peritoneal mesothelioma periungual erythema periungual fibroma periungual teleangiectasia perivascular fibrosis perivascular pseudorosette perivascular space perivascular spaces periventricular cyst periventricular cysts periventricular heterotopia periventricular leukomalacia peroneal atrophy perseverative behavior perseverative behaviour persistent cloaca persistent fever persistent urachus persistent viremia personality change personality changes personality disorder pes calcaneovarus pes cavus pes equinovarus pes equinus pes planus pes valgus peter anomaly peters anomaly petit mal petrified ear phalangeal dislocation phalangeal hypoplasia phalangeal sclerosis phalen maneuver phalen manoeuvre phantom odor phantom odour phantom smell phantom taste pharyngeal edema pharyngeal exudate pharyngeal fluid pharyngeal neoplasm pharyngeal oedema phenylpyruvic acidemia phonic tic phonic tics photic retinopathy photomyoclonic seizure photomyoclonic seizures photosensitive seizure photosensitive skin phthisis bulbi physical aggression physical urticaria pig bronchus pigeon chest pigment gallstone pigment gallstones pigment gum pigment naevi pigment nevus pigmentary change pigmentary changes pigmentary retinopathy pigmentation anomaly pigmented gums pigmented naevi pigmented nevi pilar cyst pili canaliculi pili canaliculus pili torti pill roll pill rolling pilocytic astrocytoma pilonidal abscess pilonidal cyst pilonidal dimple pilonidal fistula pilonidal sinus pinch nerve pinch nose pinched nerve pinched nose pineal cyst pineocytomatous rosette pink eye pink urine pit nail pitted nails pituitary adenoma pituitary calcification pituitary carcinoma pituitary disease pituitary dwarfism pituitary gonadotropinoma pituitary hypothyroidism pituitary prolactinoma pituitary somatotropinoma pituitary thyrotropinoma placental abruption placental enlargement placental hamartoma placental infarction placental issue placental thromboembolism plantar edema plantar hyperkeratoses plantar hyperkeratosis plantar oedema plantar pit plantar pits plantar telangiectasia plantar teleangiectasia plantar wart plantar warts plasma lactescence platelet abnormalities platelet abnormality platelet anisocytosis platelet antibody platelike atelectasis pleomorphic cholangitis pleomorphic xanthoastrocytoma pleural cobblestoning pleural cyst pleural effusion pleural empyema pleural incrassation pleural lymphangiectasia pleural mass pleural mesothelioma pleural plaque pleural pseudotumor pleural rub pleural thickening pleuropulmonary blastoma plexiform neurofibroma plica palpebronasalis plicate tongue plicated tongue plump lip plump lips podocyte cap podocyte detachment podocyte hyperplasia podocyte hypertrophy podocyte infolding podocyte multinucleation point chin point ear point helix point incisor point tooth point ulna pointed chin pointed ear pointed helix pointed incisor pointed tooth pointed ulna pointy chin polar cataract polyalveolar lobe polyarticular arthritis polyarticular arthropathy polyarticular chondrocalcinosis polycystic kidney polycystic kidneys polycystic ovaries polycystic ovary polygonal calices polyposis nasi pontine hypoplasia pontocerebellar atrophy poor appetite poor concentration poor coordination poor feeding poor growth poor memory poor speech poor suck poor sucking poor swallowing poor vision popliteal pterygium porencephalic cyst portal fibrosis portal hypertension portal inflammation positional plagiocephaly postauricular acrochordon postauricular earpits postauricular fistula postauricular pit postaxial hexadactyly postaxial oligodactyly postaxial polydactyly posterior blepharitis posterior embryotoxon posterior encephalocele posterior lenticonus posterior leukoencephalopathy posterior plagiocephaly posterior staphyloma posterior synechiae posterior uveitis posterior wedging posteriorly rotate posteriorly rotated postexertional fatigue postexertional malaise postmenopausal bleed postmenopausal bleeding postnatal macrocephaly postnatal microcephaly postprandial fullness postprandial hyperglycemia postprandial hyperlactemia postprandial hypoglycemia postterm pregnancy postural hypotension postural instability postural tachycardia postural tremor potato nose potter facies preauricular acrochordon preauricular cyst preauricular earpits preauricular fistula preauricular fistulas preauricular pit preauricular pits preauricular sinus preauricular tag preauricular tags preaxial polydactyly precocious atherosclerosis precocious puberty precordial pain pregnancy exposure preimplantation lethality premacular fibrosis premacular haemorrhage premacular hemorrhage premature adrenarche premature arteriosclerosis premature arthritis premature atherosclerosis premature birth premature delivery premature ejaculation premature gray premature graying premature grey premature greying premature menopause premature osteoarthritis premature pubarche premature thelarche premaxillary excess premaxillary retrusion premaxillary underdevelopment prepartum haemorrhage prepartum hemorrhage prepenile scrotum preretinal haemorrhage preretinal heme preretinal hemorrhage presacral ganglioneuroma presacral teratoma presenile cataract presenile cataracts pressure sore pressure ulcer presystolic gallop preterm delivery pretesticular azoospermia pretibial blistering pretibial dimple pretibial myxedema pretragal duplication pretragal ectopia primary amenorrhea primary hyperaldosteronism primary hypercortisolism primary hyperparathyroidism primary hypogonadism primary hypothyroidism primary microcephaly primitive reflex primitive reflexes problem speak problems speaking productive cough profuse sweat profuse sweating progressive alopecia progressive ataxia progressive cataract progressive choreoathetosis progressive dementia progressive encephalopathy progressive forgetfulness progressive hyperpigmentation progressive hypotrichosis progressive leukoencephalopathy progressive macrocephaly progressive microcephaly progressive neurodegeneration progressive ophthalmoplegia progressive polyneuropathy progressive ptosis progressive spasticity progressive ventriculomegaly progressive vitiligo projectile vomit projectile vomiting prolactin deficiency prolactin excess prolapse bladder prolapsed bladder prolong mepc prolong mepp prolong pt prolong ptt prolonged mepc prolonged mepp prolonged pt prolonged ptt prolonged seizure prominent antihelix prominent antitragus prominent brow prominent calcaneus prominent chin prominent clitoris prominent coccyx prominent columella prominent ear prominent ears prominent elbow prominent eye prominent eyebrow prominent eyebrows prominent eyelash prominent eyelashes prominent eyes prominent forehead prominent glabella prominent globe prominent globes prominent jaw prominent joint prominent joints prominent lip prominent lips prominent mandible prominent maxilla prominent navel prominent nipple prominent nipples prominent nose prominent occiput prominent philtrum prominent sternum prominent swayback prominent tailbone prominent tongue prominent tragus prominent umbilicus prominent vein prominent veins prominent xiphisternum pronounce cheekbone pronounce forehead pronounce nose pronounce philtrum pronounced cheekbone pronounced forehead pronounced nose pronounced philtrum propionic acidemia proportionate dwarfism prostate cancer prostate mass prostate neoplasm prostatic cancer protein avoidance protract diarrhea protract diarrhoea protracted diarrhea protracted diarrhoea protrude coccyx protrude ear protrude eye protrude forehead protrude occiput protrude tailbone protrude tongue protruding coccyx protruding ear protruding ears protruding eyes protruding forehead protruding occiput protruding tailbone protruding tongue protrusio acetabulae protrusio acetabuli protrusio bulbi protuberant abdomen proximal amyotrophy proximal scleroderma proximal symphalangism proximal tubulopathy prune belly pruritus vulva pruritus vulvae pseudobulbar palsy pseudobulbar paralysis pseudobulbar sign pseudobulbar signs pseudobulbar symptom pseudobulbar symptoms pseudobulbar syndrome psoriasiform dermatitis psoriasiform lesion psychiatric disorder psychiatric disorders psychiatric disturbance psychiatric disturbances psychic aura psychomotor degeneration psychomotor delay psychomotor deterioration psychomotor impairment psychomotor regression psychomotor retardation psychomotor slow psychomotor slowing psychotic episode psychotic episodes psychotic mentation pta depression pta elevation pterygium colli pterygium cubitale pubertal delay puffy cheek puffy cheeks puffy eye puffy eyelid puffy eyelids puffy eyes puffy face puffy facies puffy lid puffy lids pugilistic facies pulmonary amyloidosis pulmonary aspiration pulmonary atelectasis pulmonary atresia pulmonary bleb pulmonary bulla pulmonary bullae pulmonary cavern pulmonary cavity pulmonary chondroma pulmonary cyst pulmonary edema pulmonary embolism pulmonary emphysema pulmonary eosinophilia pulmonary fibrosis pulmonary granulomatosis pulmonary haemorrhage pulmonary hemangioma pulmonary hemangiomas pulmonary hemorrhage pulmonary histoplasmosis pulmonary hypoplasia pulmonary incompetence pulmonary infection pulmonary infections pulmonary infiltrates pulmonary insufficiency pulmonary lymphangiectasia pulmonary lymphangiectasis pulmonary lymphangiomyomatosis pulmonary lymphoma pulmonary mass pulmonary mycetoma pulmonary myomatosis pulmonary necrosis pulmonary nodule pulmonary obstruction pulmonary oedema pulmonary oligemia pulmonary opacity pulmonary paraglioma pulmonary pneumatocele pulmonary pneumatocoele pulmonary pseudocavity pulmonary sequestration pulmonary stenosis pulmonary tb pulmonary tuberculosis pulmonic infiltration pulmonic stenosis pulp calcification pulp calcifications pulp denticle pulp denticles pulp obliteration pulp stone pulp stones pulsatile tinnitus pulverulent cataract punctal stenosis punctate cataract punctate keratitis pupillary abnormalities pupillary abnormality pupillary constriction purple urine purplish stria purplish striae purse lip pursed lips purulent rhinitis pustular lesion pustular rash pyloric stenosis pyoderma gangrenosum pyramidal cataract pyramidal sign pyramidal signs quadriceps aplasia quadriceps weakness quelprud nodule quincke edema quincke oedema quotidian fever raccoon eye raccoon eyes race heart race thought rachitic rosary racing heart racing thoughts radermecker complex radermecker complexes radial aplasia radial bowing radial dislocation radial dysplasia radial hypoplasia radial subluxation radiocapitellar dislocation radiohumeral dislocation radioulnar dislocation radioulnar synostosis rag cuticle ragged cuticle raise iop raised iop rapid breathing raspberry tongue raynaud disease raynaud phenomenon rbc keratocytosis reactive hypoglycemia reading disability recede chin recede forehead recede gum recede mandible receding chin receding forehead receding gums receding mandible receptive aphasia rectal abscess rectal atresia rectal bleeding rectal fistula rectal pain rectal perforation rectal polyp rectal polyposis rectal polyps rectal prolapse rectal prolapsed rectal tumor rectal tumour rectoperineal fistula rectourethral fistula rectovaginal fistula rectovestibular fistula recur nosebleed recur pancreatitis recurrent bronchiolitis recurrent bronchitis recurrent cold recurrent colds recurrent cystitis recurrent diarrhea recurrent diarrhoea recurrent encephalopathy recurrent epistaxes recurrent epistaxis recurrent fever recurrent fracture recurrent fractures recurrent gastroenteritis recurrent herpes recurrent hiccough recurrent hiccup recurrent hypoglycaemia recurrent hypoglycemia recurrent infection recurrent infections recurrent meningitis recurrent myoglobinuria recurrent pancreatitis recurrent pharyngitis recurrent phlebitis recurrent pneumonia recurrent pyelonephritis recurrent shingle recurrent shingles recurrent singultus recurrent sinusitis recurrent thromboembolism recurrent thrombophlebitis recurrent thrombosis recurrent tonsillitis recurrent uri recurrent utis recurring nosebleed recurring pancreatitis red desaturation red eye red eyes red face red hair red teeth red urine reduce bun reduce ch50 reduce electroretinogram reduce erg reduce fev1 reduce fvc reduce hba reduce hct reduce hematocrit reduce salivation reduce tlc reduced bun reduced ch50 reduced electroretinogram reduced erg reduced fev1 reduced fvc reduced hba reduced hct reduced hematocrit reduced salivation reduced tlc redundant skin reflex seizure reflex syncope reflex tear reflex tearing refractory anaemia refractory anemia relative macrocephaly renal abscess renal adysplasia renal agenesis renal amyloidosis renal angiomyolipoma renal anomalies renal anomaly renal aplasia renal atrophy renal calculi renal calculus renal carcinoma renal cyst renal cysts renal diverticulum renal duplication renal dysplasia renal ectopia renal enlargement renal failure renal fibrosis renal hamartoma renal hypophosphatemia renal hypoplasia renal insufficiency renal malformation renal malrotation renal necrosis renal neoplasia renal neoplasm renal oncocytoma renal ptosis renal sarcoma renal steatosis renal stone renal stones renal tcc renal tumor renal tumors renal tumour renal tumours renotubular dysgenesis renovascular hypertension repeat pneumothoraces repeat pneumothorax repeat speech repeated pneumothoraces repeated pneumothorax repeated speech repetitive movement repetitive movements respiratory abnormality respiratory acidosis respiratory alkalosis respiratory arrest respiratory depression respiratory difficulties respiratory difficulty respiratory distress respiratory failure respiratory impairment respiratory infection respiratory infections respiratory insufficiency respiratory paralysis respiratory problem rest dyspnea rest tremor resting tremor restless leg restless legs restrict behavior restrict behaviour restricted behavior restricted behaviour restrictive behavior restrictive behaviour restrictive cardiomyopathy restrictive ophthalmoplegia retain tooth retained tooth retard development retard ejaculation retard ossification retarded development retarded ejaculation retarded growth retarded ossification reticular hyperpigmentation reticulate hyperpigmentation retina degeneration retina issue retina tumor retina tumour retinal arteritis retinal atrophy retinal bleeding retinal calcification retinal coloboma retinal crystal retinal crystals retinal degeneration retinal detachment retinal disease retinal dot retinal dots retinal dysgenesis retinal dysplasia retinal dystrophy retinal exudate retinal exudates retinal fleck retinal flecks retinal fold retinal folds retinal haemorrhage retinal haemorrhages retinal hamartoma retinal hemangioblastoma retinal hemorrhage retinal hemorrhages retinal hole retinal holes retinal hypoplasia retinal infarction retinal microaneurysm retinal neoplasm retinal neovascularisation retinal neovascularization retinal nonattachment retinal perforation retinal striation retinal tear retinal telangiectasia retinal thinning retinal vasculitis retinitis pigmentosa retractile testicle retractile testis retrobulbar neuritis retrocerebellar cyst retrograde amnesia retrograde ejaculation retroperitoneal chemodectomas retroperitoneal fibrosis retropharyngeal hemangioma retrorectal teratoma retrusive midface rheumatoid arthritis rhizomelic dwarfism rhizomelic shortening rib abnormalities rib abnormality rib anomalies rib anomaly rib cup rib cupping rib exostoses rib exostosis rib flaring rib fusion rib gap rib hypoplasia riboflavin deficiency rictus grin ridge fingernail ridge nail ridged fingernail ridged fingernails ridged nail ridged nails rieger anomaly right hemiplegia right isomerism rigid abdomen rigid dysarthria rigid spine rim vacuole rimmed vacuoles ring fiber ring fibers ring fibre ring fibres ring scotoma risk take risk taking risus sardonicus robin mandible robin sequence rockerbottom feet rockerbottom foot rod monochromacy rod monochromatism root dwarfism root gigantism rootless teeth rop 4b rop plus rop prethreshold rop threshold rope sign rosenthal fiber rosenthal fibers rosenthal fibre rosenthal fibres rot teeth rotary nystagmus rotatory nystagmus rotting teeth rouleau formation rouleaux formation round atelectasis round back round columella round ear round epiphysis round face round facies round neck rounded atelectasis rounded columella rounded epiphyses rounded neck rounded shoulder rounded shoulders rpe irregularity rpe mottling rubeosis iridis rubral tremor ruddy face rudimentary fibula rudimentary phalanges rudimentary phalanx rudimentary tongue rudimentary uterus rudimentary vagina runny nose rupture spleen rupture tendon ruptured spleen ruptured tendon saccadic intrusion saccadic oscillation saccadic oscillations sacral agenesis sacral dimple sacral dysgenesis sacral hypertrichosis sacral kidney sacral lipoma sacral meningocele sacrococcygeal agenesis sacrococcygeal fistula sacrococcygeal teratoma sacroiliac arthritis saddle nose sag uterus sagging uterus sagittal craniosynostosis salaam convulsion salaam convulsions salaam seizure salaam seizures salmon patch salmonella osteomyelitis salt crave salt craving salt waste salt wasting sandal gap satyr ear sausage finger sausage fingers sausage toe sausage toes sawtooth acanthosis sawtoothed acanthosis scale skin scaling skin scalp defect scalp fold scalp folds scalp furrow scalp furrows scalp hypersensitivity scalp hypotrichosis scalp pain scalp tenderness scaly skin scan speech scanning speech scant eyelash scant eyelashes scanty eyelash scanty eyelashes scaphoid abdomen scapula alata scapula exostosis scapulae exostoses scapular aplasia scapular exostoses scapular exostosis scapular hypoplasia scapular weakness scapular winging scapulohumeral synostosis scapuloperoneal amyotrophy scapuloperoneal atrophy scapuloperoneal myopathy scapuloperoneal weakness scar tissue scheuermann disease scheuermann kyphosis schneckenbecken dysplasia scimitar anomaly scimitar syndrome scintillate scotoma scintillating scotoma scissor gait scissor walk scissors bite scissors gait scleral icterus scleral rupture scleral schwannoma scleral staphyloma scleral thickening sclerocystic ovaries sclerocystic ovary sclerosing cholangitis sclerotic metaphyses sclerotic scapula sclerotic scapulae sclerotic ulna scrotal cleft scrotal hyperpigmentation scrotal hypoplasia scrotal hypospadias scrotal pain scrotal tongue scrotum tumor scrotum tumour seafood allergy seasonal allergy sebaceous adenoma sebaceous adenomas sebaceous carcinoma sebaceous cyst sebaceous hyperplasia sebaceous mole sebaceous naevus sebaceous nevus seborrheic dermatitis seborrheic eczema seborrheic keratosis seborrheic verruca seborrhoeic blepharitis secondary amenorrhea secondary esotropia secondary exotropia secondary hyperaldosteronism secondary hypercortisolism secondary hyperparathyroidism secondary hypothyroidism secondary microcephaly secretory diarrhea secretory diarrhoea seesaw nystagmus segmental glomerulosclerosis self hugging self injury self mutilation semantic dementia semicircular tooth semilobar holoprosencephaly semilunar tooth senile druse senile gait senile plaque senile plaques senile wart sensorimotor neuropathy sensorineural deafness sensory ataxia sensory aura sensory esotropia sensory exotropia sensory hallucination sensory impairment sensory neuropathy separation insecurity septal defect septal defects septate vagina septic arthritis septic emboli septic embolism septic embolus serpentine fibula serpiginous eruption serrate polyposis serrated polyposis severe albuminuria severe deafness severe farsightedness severe giardiasis severe hydrocephalus severe hydrops severe infection severe myopia severe periodontitis severe photosensitivity severe platyspondyly severe pyorrhea severe toxoplasmosis sex addiction sex reversal shagreen patch shakey voice shallow acetabula shallow acetabulae shallow acetabulum shallow breathing shallow orbit shallow orbits shallow philtrum shark tooth shawl scrotum shawl sign shell ear shell teeth shield chest short arm short arms short bowel short chin short clavicle short clavicles short collarbone short columella short diaphyses short diaphysis short digit short ear short ears short eyelash short eyelashes short eyelid short face short facies short feet short femur short femurs short fibula short fibulae short finger short foot short forearm short forearms short halluces short hallux short hand short hands short humeri short humerus short leg short legs short limb short limbs short metacarpal short metacarpals short metatarsal short metatarsals short nail short nails short neck short nose short palate short palm short palms short penis short phalanges short phalanx short philtrum short radii short radius short rib short ribs short scapula short scapulae short shinbone short skankbone short sleep short stature short sternum short thighbone short thorax short thumb short thumbs short tibia short tibiae short toe short toes short ulna short ulnae short uvula shorten forearm shorten limb shorten metacarpal shorten metatarsal shorten nose shorten phalanx shortened forearm shortened limbs shortened metacarpals shortened metatarsals shortened nose shortened phalanges shoulder dimple shoulder dimples shoulder dislocation shoulder dystocia shoulder impingement shoulder pain shoulder subluxation shoulder weakness shovel tooth shuffle gait shuffle walk shuffled walk shuffling gait sickled erythrocyte sickled erythrocytes sideroblastic anaemia sideroblastic anemia silent atrium silent hypoxemia silhouette sign simian crease simian creases simian line simple ear simple philtrum single atrium single kidney single nare single naris single nostril single trichilemmoma single ventricle sink eye sinoatrial block sinus bradycardia sinus disease sinus infection sinus inflammation sinus tach sinus tachy sinus tachycardia situational syncope situs inversus situs oppositus situs transversus skeletal abnormalities skeletal abnormality skeletal anomalies skeletal anomaly skeletal dysplasia skeletal myopathy skeletal tumor skeletal tumour skew foot skin abnormality skin abscess skin atrophy skin blister skin blisters skin bulla skin bullae skin calcification skin cancer skin cyst skin degeneration skin detachment skin dimple skin dimples skin erosion skin fissure skin fragility skin hamartoma skin hyperelasticity skin hyperextensibility skin hyperpigmentation skin hypopigmentation skin infection skin infections skin inflammation skin itching skin laxity skin maceration skin necrosis skin nodule skin paleness skin papule skin papules skin photosensitivity skin pit skin pits skin plaque skin pseudolymphoma skin pustule skin pustules skin rash skin sloughing skin tag skin tags skin tumor skin tumors skin tumour skin tumours skin ulcer skin vesicle skin wound skin writing skip heartbeat skipped heartbeat skull asymmetry skull bossing skull defect sleep apnea sleep apnoea sleep disturbance sleep disturbances sleep dysfunction sleep myoclonus sleep paralysis sleep seizure sleep seizures sleep terror sleep terrors sleep walking slender build slender feet slender finger slender fingers slender foot slender humerus slender metacarpal slender metacarpals slender nose slender radius slender rib slender ribs slender toe slender ulna slip backbone slipped backbone slop forehead slop shoulder sloping forehead sloping shoulders slow breathing slow heartbeat slow heartbeats slow movement slow movements slow saccade slow saccades slow thinking slow thought slowed thinking slowed thoughts slur speech slurred speech small antitragus small brainstem small calvarium small carpal small carpals small cerebellum small cerebrum small cheekbone small chest small chin small clitoris small cranium small ear small earlobe small earlobes small ears small epiphyses small epiphysis small eyelid small face small facies small feet small finger small fingernail small fontanelle small foot small forehead small genitalia small hallux small hand small hands small head small heart small hippocampus small jaw small kidney small kidneys small kneecap small lens small lung small mandible small maxilla small midface small mouth small nail small nails small nipple small nipples small nose small nostril small nostrils small patella small patellae small pelvis small penis small pharynx small philtrum small pinna small pinnae small placenta small platelet small platelets small premaxilla small sacrum small scaphoid small scapula small scapulae small scrotum small skull small stature small teeth small testes small testis small thorax small thumb small thumbnail small thumbs small thymus small toe small tongue small tooth small tragus small trapezium small triceps small uterus small vertebra small vertebrae smell defect smooth philtrum smooth tongue snail ear snake tongue snore loudly snore symptom snores loudly snoring symptoms snout reflex soft calvaria soft skin soft skullcap soft teeth soft voice solar keratosis solar retinitis solar retinopathy solar urticaria somatosensory agnosia somatosensory aura somatosensory auras somatotropin deficiency somatotropin excess sore throat sound sensitivity sparse eyebrow sparse eyebrows sparse eyelash sparse eyelashes sparse hair spasmodic croup spasmodic dysphonia spasmodic torticollis spasmus nutans spastic ataxia spastic diparesis spastic diplegia spastic dysarthria spastic gait spastic hemiparesis spastic hemiplegia spastic paraparesis spastic paraplegia spastic quadriparesis spastic quadriplegia spastic tetraparesis spastic tetraplegia spastic walk spatulate rib spatulate ribs spatulate thumb spatulate thumbs specific anosmia speckle iris speckled iris speech apraxia speech delay speech difficulties speech difficulty speech disorder speech impairment speech impediment sphincter disturbance sphincter disturbances spider finger spider fingers spider hemangioma spider vein spider veins spina bifida spinal ataxia spinal deformities spinal deformity spinal dimple spinal dysplasia spinal dysraphism spinal fusion spinal hemangioblastoma spinal hypomyelination spinal instability spinal meningioma spinal myoclonus spinal neurofibroma spinal neurofibromas spinal rigidity spinal stenosis spinal tumor spinal tumors spinal tumour spinal tumours spinocerebellar atrophy spinocerebellar degeneration spirometric restriction splay epiphysis splay metaphyses splay toe splayed epiphyses splayed finger splayed fingers splayed metaphyses splayed toes spleen hemangioma splenic abscess splenic cyst splenic hemangioma splenic lesion splenic rupture splenogonadal fusion splenopancreatic fusion split foot split hand split nail split rib split ribs split spine split thighbone split tongue split uvula spock ear spondyloepimetaphyseal dysplasia spondyloepiphyseal dysplasia spondylometaphyseal dysplasia spongiform cardiomyopathy spontaneous abortion spontaneous fracture spontaneous fractures spontaneous hematoma spontaneous hematomas spontaneous pneumothorax spotty hyperpigmentation spotty hypopigmentation sprengel anomaly sprengel deformity sputum eosinophilia squamous papilloma square face square facies square pelvis squint eye squint eyes staccato cry staghorn calculus stahl ear stand instability standing instability stapedial abnormalities stapedial abnormality stapes ankylosis stapes fixation star eye star gaze starch intolerance staring eyes staring gaze starvation ketoacidosis stasis dermatitis static ophthalmoparesis status asthmaticus status cribrosum status epilepticus steatocystoma multiplex stellate iris steppage gait stercoraceous vomit stercoraceous vomiting stercoral ulcer stereotype behavior stereotype behaviour stereotyped behavior stereotyped behaviors stereotyped behaviour stereotyped behaviours stereotypic behavior stereotypic behaviors stereotypic behaviour stereotypic behaviours sterile abscess sterile arthritis sterile pyuria sternal anomalies sternal anomaly sternal cleft sternal pit sternal protrusion sternocleidomastoid amyotrophy stiff ankle stiff elbow stiff finger stiff hip stiff joint stiff joints stiff knee stiff neck stiff shoulder stiff shoulders stiff skin stiff toe stiff tongue stiff wrist stimulant addiction stimulant dependence stipple epiphysis stipple pigmentation stippled epiphyses stippled pigmentation stomach cancer stomach churn stomach churning stomach diverticulum stomach hernia stomach inflammation stomach pain stomach tumor stomach tumour stomach ulcer stool hold stool holding stool soil stool soiling stool xenobiotic stooped posture stork bite straight clavicle straight clavicles straight collarbone straight eyebrow straight eyebrows strawberry birthmark strawberry mark strawberry tongue streak ovary stretch mark stretch marks stretchable skin stria atrophicae stria distensae striae atrophicae striae distensae striate metaphysis striated metaphysis strokelike episode strokelike episodes struvite nephrolithiasis stubby finger stubby fingers stubby toe stubby toes stuffy nose subaortic stenosis subarachnoid haemorrhage subarachnoid hemorrhage subcapsular cataract subcapsular cataracts subcapsular opacities subcapsular opacity subchorionic thrombohematoma subclinical hypothyroidism subconjunctival haemorrhage subconjunctival hemorrhage subcoronal hypospadias subcortical dementia subcortical heterotopia subcutaneous calcification subcutaneous haemorrhage subcutaneous hemorrhage subcutaneous lipoma subcutaneous neurofibroma subcutaneous neurofibromas subcutaneous nodule subcutaneous nodules subcutaneous spheroid subcutaneous spheroids subdural haematoma subdural haemorrhage subdural hematoma subdural hemorrhage subependymal cyst subependymal cysts subependymal nodule subependymal nodules subepidermal blistering subglottic hemangioma subglottic laryngitis subglottic stenosis subhyaloid haemorrhage subhyaloid heme subhyaloid hemorrhage sublingual cyst sublingual ptyalocele submacular haemorrhage submacular hemorrhage submandibular lymphadenopathy submucous clefting subperiosteal erosion subperiosteal erosions subpleural honeycombing subpleural scarring subretinal deposit subretinal deposits subretinal exudate subretinal fluid subretinal haemorrhage subretinal heme subretinal hemorrhage subungual fibroma subungual fibromas subungual hyperkeratosis suck reflex suck weakness sucking weakness sudanophilic lesion sudanophilic leukodystrophy sudden death sudomotor dysfunction suicidal ideation sun allergy sun sensitivity sunken cheek sunken cheeks sunken eye sunken eyes sunsetting eye superficial thrombophlebitis supernumary dentition supernumary fontanelle supernumary teeth supernumerary cusp supernumerary finger supernumerary kidney supernumerary nares supernumerary naris supernumerary nipple supernumerary nipples supernumerary nostril supernumerary nostrils supernumerary rib supernumerary ribs supernumerary spleen supernumerary spleens supernumerary teeth supernumerary testes supernumerary testis supernumerary thumb supernumerary tooth supernumerary vertebra supernumerary vertebrae supplemental dentition supplemental teeth suppurative cholangitis supraauricular fistula supraauricular pit supraauricular sinus supraauricular sinuses supraglottic hemangioma supramitral ring supranuclear ophthalmoplegia supraorbital hyperostosis supratentorial atrophy supratentorial neoplasm supraumbilical raphe supraventricular arrhythmia supraventricular tachyarrhythmia supraventricular tachycardia sutural cataract swallow difficulty swallowing difficulties swallowing difficulty sweat dysfunction sweat profusely sweating dysfunction sweating profusely sweet crave sweet craving swell finger swell lip swell throat swollen finger swollen fingers swollen lip swollen throat sydney crease symmetric polyarthritis symptomatic seizure symptomatic seizures synechia vulva synechia vulvae synovial hypertrophy synovial sarcoma systemic autoinflammation systemic hypertension t lymphocytopenia tactile hallucination tactile hallucinations takotsubo cardiomyopathy talar aplasia talipes calcaneovalgus talipes calcaneovarus talipes equinovalgus talipes equinovarus talipes valgus talipes varus tall chin tall forehead tall stature talocalcaneal synostosis talon cusp talon cusps talus aplasia taper finger taper fingertip taper humerus taper metacarpal taper toe taper tooth tapered finger tapered fingers tapered fingertips tapered humerus tapered metacarpals tapered toe tapered tooth tapering fingers tapering toe tapering toes tardive dyskinesia tarlov cyst tarsal fusion tarsal fusions tarsal osteolysis tarsal osteovalgus tarsal sclerosis tarsal stipple tarsal stippling tarsal synostosis tarsometatarsal synostosis taste hallucination taste hallucinations teeth grind teeth grinding telogen effluvium temperature instability temporal bossing temporal hypotrichosis temporal narrowness temporomandibular arthritis tendon pain tendon rupture tendon thicken tendon thickening tendon xanthoma tendon xanthomas tendon xanthomatosis tent mouth tent philtrum tented mouth tented philtrum terminal insomnia terminal symphalangism terminal tremor tertiary hyperparathyroidism tertiary hypothyroidism testicular abscess testicular atrophy testicular azoospermia testicular cancer testicular degeneration testicular dysgenesis testicular fibrosis testicular gonadoblastoma testicular hydrocele testicular hypoplasia testicular ischemia testicular lipomatosis testicular mass testicular mesothelioma testicular microlithiasis testicular neoplasia testicular neoplasm testicular pain testicular seminoma testicular teratoma testicular torsion testicular tumor testicular tumour tether cord tethered cord text blindness thalamic calcification thalamic dysgenesis thalamic edema thalamic haemorrhage thalamic hemorrhage thalamic oedema thenar abnormality thenar atrophy thenar hypoplasia therapeutic abortion thick calvaria thick calvarium thick eyebrow thick eyebrows thick eyelash thick eyelashes thick eyelid thick eyelids thick fibula thick fibulae thick hair thick helix thick lip thick lips thick nail thick neck thick pachygyria thick sclera thick skin thicken calvaria thicken calvarium thicken cranium thicken eyelid thicken helix thicken nail thicken rib thicken skin thickened calvaria thickened calvarium thickened cranium thickened ear thickened ears thickened eyelid thickened helices thickened nails thickened ribs thickened skin thigh hypertrophy thin build thin calvarium thin clavicle thin clavicles thin collarbone thin cornea thin cortex thin cortices thin eyebrow thin eyebrows thin eyelash thin eyelashes thin face thin facies thin fibula thin finger thin fingernail thin fingers thin hair thin lip thin lips thin nail thin nails thin nares thin naris thin nose thin nostril thin nostrils thin philtrum thin rib thin ribs thin skin thin toenail thin toenails thin uvula thin vermillion thinned hair third crus thoracic dysplasia thoracic hemivertebrae thoracic hypertrichosis thoracic hypoplasia thoracic kyphoscoliosis thoracic kyphosis thoracic pain thoracic platyspondyly thoracic scoliosis thoracoabdominal eventration thoracoabdominal schisis thoracolumbar gibbus thoracolumbar kyphoscoliosis thoracolumbar kyphosis thoracolumbar scoliosis throat discomfort throat hemangioma throat pain throat swell throat swelling thromboembolic disease thromboembolic event thromboembolic events thromboembolic stroke throw up throwing up thumb aplasia thumb brachydactyly thumb deformity thumb hypoplasia thumb polydactyly thunderclap headache thymic hyperplasia thymic hypoplasia thymus hyperplasia thymus hypoplasia thyroglossal cyst thyroid abnormality thyroid adenoma thyroid agenesis thyroid carcinoma thyroid crisis thyroid disease thyroid dysgenesis thyroid dysplasia thyroid goiter thyroid goitre thyroid hemiagenesis thyroid hyperplasia thyroid hypoplasia thyroid lymphangiectasia thyroid lymphangiectasis thyroid nodule thyrotropin deficiency tibial bowing tibial fracture tibial pseudarthrosis tibial pseudoarthrosis tibial spur tibial torsion tibialis atrophy tibiofibular diastasis tic disorder tic douloureux tight skin tilt mandible tilt maxilla tilt mouth tilted mandible tilted maxilla tilted mouth timo cyst tire easily tired easily tissue ischemia toe clinodactyly toe contracture toe contractures toe curvature toe dactylitis toe pain toe stiffness toe syndactyly toe walk toe walking toenail dysplasia toenail onycholysis tongue abnormality tongue atrophy tongue duplicate tongue duplicated tongue duplication tongue dystonia tongue edema tongue fasciculation tongue fasciculations tongue hypertrophy tongue lipoma tongue nodule tongue nodules tongue oedema tongue pain tongue protrusion tongue stiffness tongue telangiectasia tongue thrusting tongue tie tongue tied tongue tremor tongue twitching tonic pupil tonic seizure tonsillar hypertrophy tonsillar hypoplasia tooth abnormalities tooth abnormality tooth abscess tooth agenesis tooth ankylosis tooth cavities tooth cavity tooth decay tooth hypoplasia tooth hypotrophy tooth malposition torn meniscus torn retina torsion dystonia tortuous lymphatics torus palatinus total alopecia total anodontia total anophthalmia total anosmia total colorblindness total hyposmia total ophthalmoplegia trabecular bladder tracheal atresia tracheal bleeding tracheal bronchus tracheal calcification tracheal calcifications tracheal disease tracheal diverticulosis tracheal diverticulum tracheal hemorrhage tracheal neoplasm tracheal papilloma tracheal stenosis tracheobronchial anomalies tracheobronchial anomaly tracheobronchial leiomyomatosis tracheoesophageal fistula traction bronchiectasis traction bronchiolectasis transient aminoaciduria transient erythroblastopenia transient hyperlipidemia transient hyperphenylalaninemia transient hypophosphatemia transient nephrosis transient neutropenia translucent skin triangular epiphyses triangular epiphysis triangular face triangular facies triangular humerus triangular mouth triangular tibia triangular tongue triatrial heart triceps aplasia triceps areflexia triceps hyperreflexia triceps hypoplasia triceps hyporeflexia triceps weakness trichilemmal cyst trichorrhexis nodosa tricuspid atresia tricuspid insufficiency tricuspid regurgitation tricuspid stenosis trident abnormality trident deformity trident hand trifascicular block trigeminal anaesthesia trigeminal anesthesia trigeminal neuralgia trigger finger triphalangeal hallux triphalangeal thumb triphalangeal thumbs triple rhythm trophic change trophic changes trophoblastic tumor trophoblastic tumour trouble breathe trouble breathing trouble sleep trouble sleeping true anophthalmia true denticle true denticles true hermaphroditism truncal ataxia truncal dystonia truncal hypotonia truncal obesity truncal titubation truncus arteriosus trunk ataxia tsh excess tshr defect tube feeding tuberous xanthoma tubular atrophy tubular cast tubular casts tubular fingernail tubular fingernails tubular proteinuria tubulointerstitial abnormality tubulointerstitial fibrosis tubulointerstitial nephritis tubulointerstitial nephropathy tubulointerstitial scarring tufted angioma tufted hair tufted hairs tufted hemangioma tunnel vision turbid urine twin tooth twinning tooth tympanic calcification typical absence ulcerative colitis ulnar bowing ulnar claw ulnar drift ulnar hypoplasia ulnohumeral dislocation umbilical hernia umbilical hernias umbilicated nodule unbalanced face uncombable hair unconjugated hyperbilirubinemia under breathe under breathing underactive thyroid underdeveloped antitragus underdeveloped biceps underdeveloped bladder underdeveloped brainstem underdeveloped breast underdeveloped breasts underdeveloped brow underdeveloped brows underdeveloped cerebellum underdeveloped cerebrum underdeveloped clavicle underdeveloped clavicles underdeveloped clit underdeveloped cochlea underdeveloped colon underdeveloped diaphragm underdeveloped ear underdeveloped ears underdeveloped fingernail underdeveloped gonad underdeveloped heart underdeveloped helices underdeveloped helix underdeveloped hippocampus underdeveloped instestine underdeveloped iris underdeveloped kidney underdeveloped kidneys underdeveloped kneecap underdeveloped labia underdeveloped labium underdeveloped lung underdeveloped muscle underdeveloped muscles underdeveloped ovary underdeveloped pancreas underdeveloped penis underdeveloped prostate underdeveloped retina underdeveloped scrotum underdeveloped spleen underdeveloped thumbnail underdeveloped toenail underdeveloped toenails underdeveloped tooth underdeveloped tragus underdeveloped triceps underdeveloped ulna underdeveloped uterus underdeveloped vagina underdeveloped vertebra underdeveloped vertebrae underfolded helix undermineralized calvarium undermodeled humerus undescended ovary undescended testes undescended testis undetectable electroretinogram undetectable erg undetectable vep undivided thalami undivided thalamus undulate clavicle undulate clavicles undulate rib undulate ribs unerupted dentition unerupted tooth uneven ear uneven ears uneven face uneven mandible uneven maxilla uneven mouth unexplained fever unexplained fevers ungual fibroma unhappy demeanor unhappy demeanour unicornuate uterus unicoronal craniosynostosis unicoronal synostosis unilambdoid synostosis unilateral brachydactyly unilateral cheiloschisis unilateral cryptorchidism unilateral deafness unilateral microphthalmos unilateral nanophthalmos unilateral oligodactyly unilateral palatoschisis unilateral polymicrogyria unilateral ptosis unilateral strabismus uninodular goiter uninodular goitre universal alopecia unlayered lissencephaly unossified sacrum unsteady gait unsteady walk unsymmetrical face unusual dermatoglyphic unusual dermatoglyphics unusual facies unusual infection unusual movement upbeat nystagmus upgaze palsy upgaze paresis uplifted earlobe uplifted earlobes upset stomach upslanting nail upslanting toenail upturned earlobe upturned earlobes upturned mouth upturned nares upturned naris upturned nose upturned nostril upturned nostrils upturned toenail urachal cyst urachus fistula urate tophi urate tophus ureter duplex ureter fissus ureter hypoplasia ureter issue ureter polyp ureteral agenesis ureteral anomalies ureteral anomaly ureteral atresia ureteral dilatation ureteral duplication ureteral dysgenesis ureteral hypoplasia ureteral obstruction ureteral polyp ureteral reflux ureteral stenosis ureteral triplication ureteric reflux ureterovesical stenosis urethra issue urethral atresia urethral diverticulum urethral fistula urethral obstruction urethral stenosis urethral stricture urethral valve urethrorectal fistula urethrovaginal fistula urethrovaginal fistulae urinary cast urinary casts urinary hesitancy urinary incontinence urinary retention urinary urgency urine issue urine issues urine xenobiotic urocanic aciduria urogenital abnormalities urogenital abnormality urogenital anomalies urogenital anomaly urogenital fistula urticarial plaque uterine abnormalities uterine abnormality uterine cancer uterine cervicitis uterine fibroid uterine leiomyoma uterine leiomyosarcoma uterine malformation uterine malformations uterine neoplasia uterine neoplasm uterine prolapse uterine rupture uterine synechiae uterine tumor uterine tumour uterus absent uterus bicornis uterus didelphys uveal ectropion uveal melanoma uvula aplasia uvula bifida vacuolated lymphocyte vacuolated lymphocytes vacuum extraction vagal paraganglioma vaginal adenosis vaginal atresia vaginal dryness vaginal fistula vaginal hematocele vaginal hernia vaginal hydrocele vaginal lymphocele vaginal malformation vaginal neoplasia vaginal neoplasm vaginal pruritus vaginal pyocele vaginal stricture vaginal tumor vaginal tumour vaginal varicocele valley fever valvular abnormality vanish testis vanishing testis varicose eczema varicose vein varicose veins vas previa vasa previa vascular abnormalities vascular abnormality vascular calcification vascular dilatation vascular hamartoma vascular neoplasm vascular ring vascular spasm vascular tortuosity vasovagal syncope vegetative aura vegetative state velopharyngeal dysfunction velopharyngeal incompetence velopharyngeal insufficiency velvety skin venom allergy venous abnormality venous eczema venous insufficiency venous malformation venous malformations venous occlusion venous stenosis venous thrombosis ventouse delivery ventral fingernail ventral hernia ventricular aneurysm ventricular arrhythmia ventricular arrhythmias ventricular couplet ventricular dilatation ventricular diverticulum ventricular ectopics ventricular ectopy ventricular extrasystole ventricular extrasystoles ventricular fibrillation ventricular flutter ventricular gallop ventricular hypertrophy ventricular inversion ventricular preexcitation ventricular tachycardia ventriculoseptal defect vep abnormalities vep abnormality verbal dyspraxia verbal tic verbal tics vermian agenesis vermian atrophy vermiculata atrophoderma verruca plana verruciform xanthoma verrucous papule versive seizure versive seizures vertebral anomalies vertebral anomaly vertebral cleft vertebral clefting vertebral clefts vertebral collapse vertebral compression vertebral fusion vertebral hyperostosis vertebral hypoplasia vertebral wedging vertebrobasilar dolichoectasia vertical clivus vertical nystagmus vesicoureteral reflux vesicoureteric reflux vesicovaginal fistula vesicular eruption vestibular abnormality vestibular areflexia vestibular ataxia vestibular aura vestibular dysfunction vestibular fistula vestibular hypofunction vestibular neurilemmoma vestibular neurinoma vestibular neurolemmoma vestibular nystagmus vestibular schwannoma vibratory urticaria villous atrophy villous degeneration violaceous plaque violent behavior violent behaviour viral croup viral encephalitis viral hepatitis visceral angiomatosis visceral aura visceral hemangioma vision issue vision loss visual agnosia visual aura visual auras visual hallucination visual hallucinations visual impairment visual loss vitreomacular adhesion vitreomacular traction vitreoretinal abnormality vitreoretinal degeneration vitreous condensation vitreous condensations vitreous debris vitreous detachment vitreous floater vitreous floaters vitreous haemorrhage vitreous haze vitreous hemorrhage vitreous opacities vitreous opacity vitreous snowball vitreous snowballs vitreous strand vitreous strands vitreous veil vitreous veils vivid hallucination vivid hallucinations vocal tic vocal tics vocal tremor voice abnormality voice change volar fingernail vomitting blood voracious appetite vortex keratopathy vulcan ear vulvar abscess vulvar adenocarcinoma vulvar hemangioma vulvar melanoma vulvar neoplasm vulvar pain vvor impairment waddle gait waddle walk waddling gait waddling walk waldenstrom macroglobulinemia walk disability walking disability wander eye wandering eye wandering eyes waste syndrome wasting syndrome water retention watery eye watery eyes watery mouth watery stool wavy clavicle wavy clavicles wavy collarbone wavy rib wavy ribs waxy cast waxy casts weak arm weak chin weak cry weak diaphragm weak grip weak jaw weak pulse weak voice web elbow web neck web penis webbed elbow webbed finger webbed fingers webbed neck webbed penis webbed toe webbed toes wedge vertebra wedged vertebrae weight falter weight faltering weight gain weight loss wenckebach block wernicke aphasia west syndrome wet cough wet lung whistle appearance whistling appearance white eyebrow white eyelash white eyelashes white forelock white hair white papule white patch whooping cough wide chin wide cranium wide face wide facies wide fibula wide finger wide fingernail wide fingernails wide fingers wide fontanelle wide fontanelles wide foot wide forehead wide humerus wide jaw wide mandible wide metacarpal wide metacarpals wide metaphyses wide mouth wide nares wide naris wide neck wide nose wide nostril wide palm wide penis wide phalanges wide phalanx wide philtrum wide radius wide rib wide ribs wide skull wide thorax wide toe wide ulna wide ureter wide uvula widen metaphyses widen phalanx widened metaphyses widened phalanges wilms tumor wilms tumour wilson sign wing scapula winged scapulae winged scapulas wizened face woolly hair wooly hair word blindness wormian bone wormian bones wrinkle skin wrinkled skin wrist contracture wrist drop wrist fracture wrist ganglion wrist pain wrist stiffness wrist swell wrist swelling wry neck xanthelasma palpebrarum xanthine nephrolithiasis xanthine stone xanthine stones xanthogranulomatous pyelonephritis yellow conjunctiva yellow nail yellow nails yellow nodule yellow papule yellow sclera yellow skin zebra bodies zebra body zonular cataract zygomatic flattening zygomatic hypertrophy 'steppage ' gait 'waddling ' gait 1 - methylhistidinuria 11 thoracic vertebra 11 thoracic vertebrae 2 vessel cord 2nd toe symphalangism 3 - methylglutaconicaciduria 3 - methylglutaricaciduria 3 - methylhistidinuria 3rd toe clinodactyly 4th finger camptodactyly 4th toe clinodactyly 5th finger camptodactyly abdominal aortic aneurysm abdominal aortic calcification abdominal aortic dissection abdominal aseptic abscess abdominal ectopia cordis abdominal muscular hypoplasia abdominal reflex absent abdominal situs ambiguus abdominal situs inversus abdominal wall defect abducens nerve palsy abducens nerve paralysis abducens nerve paresis aberrant melanosome maturation aberrant neuronal branching aberrant thyroid gland ablepharon of eyelid abnormal abdomen morphology abnormal acetabulum morphology abnormal acetylcarnitine profile abnormal adiponectin level abnormal albumin level abnormal aldolase level abnormal alpha granule abnormal alpha granules abnormal alveolar volume abnormal amniotic fluid abnormal amygdala morphology abnormal angiostatin level abnormal ankle bone abnormal ankle bones abnormal anus position abnormal aorta morphology abnormal aortic morphology abnormal aortic physiology abnormal apolipoprotein level abnormal areolar morphology abnormal arm span abnormal arterial physiology abnormal aryepiglottic fold abnormal aryepiglottic folds abnormal astrocyte morphology abnormal atrial arrangement abnormal atrioventricular conduction abnormal atrioventricular connection abnormal atrioventricular connexion abnormal auditory reflex abnormal b cell abnormal b cells abnormal base excess abnormal basophil count abnormal basophil morphology abnormal belly button abnormal biotinidase level abnormal blood clot abnormal blood clotting abnormal bone maturation abnormal bone ossification abnormal bone structure abnormal bowel sound abnormal bowel sounds abnormal brain imaging abnormal brainstem morphology abnormal breast morphology abnormal breast physiology abnormal breath sound abnormal bronchus morphology abnormal bronchus physiology abnormal bun concentration abnormal calf muscle abnormal calf muscles abnormal capillary morphology abnormal capillary physiology abnormal cardiac cath abnormal cardiac catheterization abnormal cardiac index abnormal cardiac mri abnormal cardiac output abnormal cardiac test abnormal cardiomyocyte morphology abnormal carpal bone abnormal carpal bones abnormal cartilage collagen abnormal cartilage matrix abnormal cartilage morphology abnormal cell morphology abnormal cell proliferation abnormal cellular phenotype abnormal cellular physiology abnormal cementum morphology abnormal cerebellum morphology abnormal cerebral morphology abnormal cerumen color abnormal cerumen colour abnormal cerumen pigmentation abnormal cervical curvature abnormal cervical myelogram abnormal cervical spine abnormal cholesterol homeostasis abnormal chondrocyte morphology abnormal chorion morphology abnormal chorioretinal morphology abnormal choroid morphology abnormal chromosome morphology abnormal chylomicron concentration abnormal ciliary motility abnormal circulate aldosterone abnormal circulating aldosterone abnormal circulating renin abnormal clavicle morphology abnormal cns myelination abnormal coccyx morphology abnormal cochlea morphology abnormal collecting system abnormal color vision abnormal colour vision abnormal conjunctiva morphology abnormal consumption behavior abnormal consumption behaviour abnormal contrast sensitivity abnormal copper level abnormal copper levels abnormal cornea morphology abnormal corpus callosum abnormal cortical gyration abnormal craniofacial posture abnormal cranium morphology abnormal csf finding abnormal csf findings abnormal cytokine signal abnormal cytokine signaling abnormal cytokine signalling abnormal dense granule abnormal dense granules abnormal dental eruption abnormal dental position abnormal dentin morphology abnormal diaphysis morphology abnormal diffusing capacity abnormal digit morphology abnormal drinking behavior abnormal drinking behaviour abnormal drug response abnormal duodenum morphology abnormal ear morphology abnormal ear physiology abnormal eat behavior abnormal eat behaviour abnormal eating behavior abnormal eating behaviour abnormal electromyography find abnormal electromyography finding abnormal embryonic development abnormal enchondral ossification abnormal endocardium morphology abnormal endocrine morphology abnormal endocrine physiology abnormal energy expenditure abnormal eosinophil count abnormal eosinophil morphology abnormal epidermal morphology abnormal epiglottis morphology abnormal epiphyseal ossification abnormal erythrocyte morphology abnormal erythrocyte physiology abnormal erythrocyte volume abnormal esophagus morphology abnormal esophagus physiology abnormal estrogen level abnormal exercise test abnormal external genitalia abnormal exteroceptive sensation abnormal extraocular movement abnormal extraocular movements abnormal eye morphology abnormal eye motility abnormal eye movement abnormal eye movements abnormal eye physiology abnormal eye pressure abnormal eye structure abnormal eyebrow morphology abnormal eyelash morphology abnormal eyelid morphology abnormal eyelid movement abnormal eyelid physiology abnormal facial expression abnormal facial shape abnormal faecal osmolality abnormal faecal ph abnormal faeces composition abnormal fecal osmolality abnormal fecal ph abnormal feces composition abnormal feet structure abnormal female meiosis abnormal femoral torsion abnormal fingernail development abnormal fingernail morphology abnormal fingertip morphology abnormal foot morphology abnormal foot muscle abnormal foot muscles abnormal foot structure abnormal foveal morphology abnormal fundus morphology abnormal g6pd level abnormal gallbladder morphology abnormal gallbladder physiology abnormal gallbladder structure abnormal gastrointestinal motility abnormal genital pigmentation abnormal gi motility abnormal glucagon level abnormal glucose homeostasis abnormal glucose tolerance abnormal glycosphingolipid metabolism abnormal gprt level abnormal granulocyte count abnormal granulocyte morphology abnormal haemoglobin concentration abnormal hair morphology abnormal hair pattern abnormal hair quantity abnormal hair whorl abnormal hair whorls abnormal hand morphology abnormal hand muscle abnormal hand muscles abnormal haptoglobin level abnormal hb concentration abnormal hdl2a concentration abnormal hdl2b concentration abnormal hdl3a concentration abnormal hdl3b concentration abnormal hdl3c concentration abnormal head movement abnormal head movements abnormal heart morphology abnormal heart mri abnormal heart rate abnormal heart sound abnormal heel bone abnormal hemidiaphragm morphology abnormal hemoglobin concentration abnormal hepatic echogenicity abnormal hepatic physiology abnormal hepcidin level abnormal hippocampus morphology abnormal humeral ossification abnormal humerus morphology abnormal hyaline collagen abnormal hypopharynx morphology abnormal hypothalamus morphology abnormal hypothalamus physiology abnormal ileum morphology abnormal ilium morphology abnormal immunoglobulin concentration abnormal immunoglobulin level abnormal incisor morphology abnormal incisura morphology abnormal inflammatory response abnormal insulin level abnormal intermamillary distance abnormal internal genitalia abnormal intestine morphology abnormal intramembranous ossification abnormal intraocular pressure abnormal intrauterine movement abnormal intrauterine movements abnormal iris pigmentation abnormal iris vasculature abnormal isohemagglutinin level abnormal jaw morphology abnormal jejunum morphology abnormal joint morphology abnormal kidney artery abnormal kidney function abnormal kidney location abnormal kidney morphology abnormal labia morphology abnormal labium morphology abnormal larynx morphology abnormal larynx physiology abnormal ldlc concentration abnormal leukocyte count abnormal leukocyte migration abnormal leukocyte morphology abnormal leukocyte physiology abnormal limb muscle abnormal limb muscles abnormal lip morphology abnormal lip pigmentation abnormal liver enzyme abnormal liver enzymes abnormal liver function abnormal liver lobulation abnormal liver morphology abnormal liver physiology abnormal liver sonography abnormal lung development abnormal lung lobation abnormal lung morphology abnormal lymphocyte apoptosis abnormal lymphocyte count abnormal lymphocyte counts abnormal lymphocyte morphology abnormal lymphocyte physiology abnormal lymphocyte proliferation abnormal lysosomal morphology abnormal macrophage count abnormal macrophage morphology abnormal macular morphology abnormal magnesium concentration abnormal magnesium metabolism abnormal male genitals abnormal manganese concentration abnormal megakaryocyte morphology abnormal meningeal morphology abnormal meniscus morphology abnormal metacarpal morphology abnormal metaphyseal trabeculation abnormal metatarsal morphology abnormal metatarsal ossification abnormal metencephalon morphology abnormal mg concentration abnormal microglia morphology abnormal midbrain morphology abnormal mitochondrial morphology abnormal mitochondrial number abnormal mitochondrial shape abnormal mitochondrion morphology abnormal molar morphology abnormal monocyte count abnormal monocyte morphology abnormal monocyte number abnormal mucociliary clearance abnormal mucociliary transport abnormal multifocal electroretinogram abnormal muscle morphology abnormal muscle physiology abnormal muscle tone abnormal myocardium morphology abnormal nail growth abnormal nasal base abnormal nasal morphology abnormal nasopharynx morphology abnormal neck curve abnormal nephron morphology abnormal nerve conduction abnormal neurilemmocyte morphology abnormal neuron branching abnormal neuron morphology abnormal neuron shape abnormal neuronal branching abnormal neuronal migration abnormal neuronal morphology abnormal neutrophil count abnormal nipple morphology abnormal nk cell abnormal nk cells abnormal nose morphology abnormal nucleoside level abnormal nucleoside levels abnormal ocular alignment abnormal ocular movement abnormal ocular movements abnormal odontoid peg abnormal odontoid process abnormal oesophagus morphology abnormal oestrogen level abnormal oligodendroglia morphology abnormal oocyte morphology abnormal oral morphology abnormal oral physiology abnormal osteoclast count abnormal ovarian morphology abnormal ovarian physiology abnormal p wave abnormal palate morphology abnormal palmar dermatoglyphic abnormal palmar dermatoglyphics abnormal pancreas location abnormal pancreas morphology abnormal pancreas size abnormal patella morphology abnormal pattern electroretinogram abnormal pec muscle abnormal pec muscles abnormal penis morphology abnormal pericardium morphology abnormal perifollicular morphology abnormal periodontium morphology abnormal periosteum morphology abnormal peripheral myelination abnormal pharynx morphology abnormal pharynx physiology abnormal pia mater abnormal pineal morphology abnormal pineal volume abnormal placenta morphology abnormal placental size abnormal plantar dermatoglyphic abnormal plantar dermatoglyphics abnormal plasma aldosterone abnormal plasma ferritin abnormal plasma renin abnormal plasmablast proportion abnormal platelet aggregation abnormal platelet count abnormal platelet function abnormal platelet granule abnormal platelet granules abnormal platelet morphology abnormal platelet shape abnormal platelet volume abnormal pleura morphology abnormal podocyte morphology abnormal pons morphology abnormal postural reaction abnormal postural reflex abnormal pr interval abnormal pr segment abnormal premolar morphology abnormal preputium morphology abnormal proerythroblast morphology abnormal prolactin level abnormal prostate morphology abnormal protein glycosylation abnormal prothrombin time abnormal pulmonary circulation abnormal pulmonary lymphatics abnormal pulse pressure abnormal pupil morphology abnormal pupil shape abnormal pupillary function abnormal pupillary morphology abnormal putamen morphology abnormal pyramidal sign abnormal qrs axis abnormal qrs complex abnormal qrs voltage abnormal qt interval abnormal rbc count abnormal rectum morphology abnormal rem sleep abnormal renal echogenicity abnormal renal function abnormal renal morphology abnormal renal physiology abnormal renal resorption abnormal residual volume abnormal respiratory pattern abnormal respiratory patterns abnormal reticulocyte morphology abnormal retinal morphology abnormal retinal pigmentation abnormal retropulsion test abnormal rib ossification abnormal s wave abnormal saccharine test abnormal sacral segmentation abnormal sacrum morphology abnormal sarcomere morphology abnormal scalp morphology abnormal scapula morphology abnormal sclera morphology abnormal scrotal rugation abnormal scrotum position abnormal serum dhea abnormal serum estradiol abnormal serum estriol abnormal serum estrone abnormal serum ferritin abnormal serum folate abnormal sex determination abnormal shoulder morphology abnormal shoulder physiology abnormal skeletal development abnormal skin appendage abnormal skin color abnormal skin colour abnormal skin morphology abnormal skin pigmentation abnormal skin structure abnormal skull morphology abnormal smooth pursuit abnormal smooth pursuits abnormal social behavior abnormal social behaviour abnormal social interaction abnormal social interactions abnormal somatotropin level abnormal space incisor abnormal spaced incisors abnormal speech discrimination abnormal speech prosody abnormal sperm development abnormal sperm morphology abnormal sperm motility abnormal spinal segmentation abnormal spirometry test abnormal spleen location abnormal spleen morphology abnormal spleen physiology abnormal sputum morphology abnormal st segment abnormal sternal ossification abnormal sternum morphology abnormal stomach location abnormal stomach morphology abnormal stool composition abnormal subpleural morphology abnormal sudomotor regulation abnormal superficial reflex abnormal sweat electrolyte abnormal sweat electrolytes abnormal sweat homeostasis abnormal synaptic transmission abnormal systemic bp abnormal t cell abnormal t cells abnormal talus morphology abnormal tarsal ossification abnormal teeth space abnormal teeth spacing abnormal telomere morphology abnormal temper tantrum abnormal temper tantrums abnormal tendon morphology abnormal testis morphology abnormal testosterone level abnormal thalamic size abnormal thigh muscle abnormal thigh muscles abnormal thorax morphology abnormal thrombocyte morphology abnormal thryoid location abnormal thumb morphology abnormal thumb placement abnormal thymus position abnormal thyroid function abnormal thyroid morphology abnormal thyrotropin level abnormal tissue mass abnormal toenail development abnormal toenail morphology abnormal tongue morphology abnormal tongue physiology abnormal tooth count abnormal tooth enamel abnormal trachea morphology abnormal tracheal morphology abnormal tracheobronchial morphology abnormal transferrin saturation abnormal treadmill test abnormal tsh level abnormal tubulointerstitial morphology abnormal u wave abnormal umbilicus morphology abnormal ureter morphology abnormal ureter physiology abnormal urinary color abnormal urinary colour abnormal urinary odor abnormal urinary odour abnormal urine color abnormal urine colour abnormal urine cytology abnormal urine osmolality abnormal urine output abnormal urine ph abnormal urine smell abnormal uterus bleeding abnormal uterus morphology abnormal uvea morphology abnormal uvula morphology abnormal vagina morphology abnormal vascular morphology abnormal vascular physiology abnormal venous morphology abnormal ventricular axis abnormal ventricular filling abnormal ventriculoarterial connection abnormal ventriculoarterial connexion abnormal vertebral bodies abnormal vertebral body abnormal vertebral column abnormal vertebral morphology abnormal vertebral ossification abnormal vestibuloocular reflex abnormal visual accommodation abnormal visual electrophysiology abnormal visual fixation abnormal visual pursuit abnormal wrist bone abnormal wrist bones abnormal zinc metabolism abnormalities of sweating abnormality iris morphology abnormality of adenoid abnormality of adenoids abnormality of balance abnormality of basophil abnormality of basophils abnormality of bicuspid abnormality of calvarium abnormality of canine abnormality of coagulation abnormality of cochlea abnormality of cognition abnormality of coordination abnormality of cranium abnormality of dentin abnormality of dentine abnormality of digit abnormality of earlobe abnormality of eosinophil abnormality of eosinophils abnormality of equilibrium abnormality of erythrocyte abnormality of erythrocytes abnormality of fibrinolysis abnormality of finger abnormality of fontanelle abnormality of fontanelles abnormality of ganglion abnormality of glute abnormality of glutes abnormality of glycolysis abnormality of granulocyte abnormality of granulocytes abnormality of habitus abnormality of histiocyte abnormality of histiocytes abnormality of hypopharynx abnormality of keratinization abnormality of leukocyte abnormality of leukocytes abnormality of limb abnormality of limbs abnormality of macrophage abnormality of macrophages abnormality of mastocyte abnormality of mastocytes abnormality of molar abnormality of movement abnormality of neutrophil abnormality of neutrophils abnormality of olfaction abnormality of pigmentation abnormality of platysma abnormality of premolar abnormality of proprioception abnormality of prothrombin abnormality of refraction abnormality of reticulocyte abnormality of reticulocytes abnormality of rpe abnormality of salivation abnormality of sight abnormality of sseps abnormality of sweat abnormality of toe abnormality of vision abnormality of vomer abnormally close eye abnormally close eyes abnormally fold helix abnormally folded helix abnormally heavy period abnormally heavy periods abnormally large globe abnormally large tongue abnormally ossified vertebrae abnormally ossify vertebra abnormally place eyebrow abnormally placed eyebrows abnormally shape erythrocyte abnormally shape eye abnormally shape kidney abnormally shape lung abnormally shape pancreas abnormally shape skeletal abnormally shape skull abnormally shape teeth abnormally shape vertebra abnormally shaped ear abnormally shaped ears abnormally shaped erythrocytes abnormally shaped eye abnormally shaped heart abnormally shaped kidney abnormally shaped lung abnormally shaped muscle abnormally shaped pancreas abnormally shaped skeletal abnormally shaped skull abnormally shaped teeth abnormally shaped vertebrae abnormally small cranium abnormally small eyeball abnormally small eyelid abnormally small head abnormally small skull abnormally small tongue abnormally straight spine abolish vibration sense abolished vibration sense absence of bicuspid absence of canine absence of eyeball absence of eyeballs absence of eyebrow absence of incisor absence of incisors absence of mandible absence of molar absence of premolar absence of tongue absence status epilepticus absent 1st metatarsal absent 5th metacarpal absent 5th metatarsal absent 5th metatarsals absent abdominal musculature absent abdominal reflex absent achilles reflex absent ankle bone absent ankle pulse absent ankle reflex absent ankle reflexes absent aortic valve absent atrioventricular node absent auditory canal absent auditory canals absent axillary hair absent b cell absent b cells absent big toe absent calf bone absent carpal bone absent carpal bones absent cellular immunity absent central incisor absent central incisors absent cerebral falx absent cervical vertebra absent coronary sinus absent corpus callosum absent cremaster reflex absent cremasteric reflex absent deferent duct absent distal phalanges absent distal phalanx absent ductus deferens absent ear canal absent ear lobe absent ear lobes absent ethmoidal sinus absent ethmoidal sinuses absent eustachian tube absent external genitalia absent extraocular muscle absent extraocular muscles absent facial hair absent femoral head absent fifth fingernail absent fifth metatarsal absent fifth toenail absent first metacarpal absent first metatarsal absent forearm bone absent forearm bones absent foveal reflex absent frontal sinus absent frontal sinuses absent glenoid fossa absent gonadal tissue absent hallux epiphysis absent hippocampal commissure absent index finger absent inner ear absent inner eyelash absent inner eyelashes absent innermost bone absent innermost bones absent internal genitalia absent interphalangeal crease absent interphalangeal creases absent isohemagglutinin level absent keratohyalin granule absent keratohyalin granules absent knee epiphyses absent knee epiphysis absent lacrimal fluid absent lacrimal fluids absent lacrimal opening absent lacrimal openings absent lacrimal puncta absent lacrimal punctum absent leave hemidiaphragm absent left hemidiaphragm absent leukocyte alp absent little finger absent low eyelash absent low vagina absent lower eyelashes absent lower vagina absent lung artery absent lung vessel absent lung vessels absent lymphatic vessel absent lymphatic vessels absent metacarpal epiphyses absent metacarpal epiphysis absent metatarsal bone absent middle finger absent middle phalanges absent middle phalanx absent nasal bridge absent nasal cartilage absent nasal septum absent neutrophil lactoferrin absent nk cell absent nk cells absent ocular muscle absent ocular muscles absent optic nerve absent optic tract absent p wave absent palatine uvula absent palm line absent palm lines absent palmar crease absent paranasal sinus absent paranasal sinuses absent patellar reflex absent patellar reflexes absent permanent teeth absent phalangeal crease absent pinkie finger absent pinky finger absent pituitary gland absent proximal phalanges absent proximal phalanx absent pubic bone absent pubic bones absent pubic hair absent pulmonary artery absent pulmonary valve absent pyramidal tract absent ring finger absent scaphoid bone absent sebaceous gland absent sebaceous glands absent second fingernail absent semicircular canal absent septum pellucidum absent shoulder blade absent shoulder muscle absent skin pigmentation absent smooth pursuit absent soft palate absent speech development absent sperm flagella absent sperm flagellum absent spinal cord absent stapes head absent stensen duct absent sternal mineralization absent sternal ossification absent sweat gland absent sweat glands absent tear duct absent tear gland absent tear secretion absent tendon reflex absent tendon reflexes absent thoracic vertebra absent thymic shadow absent trapezium bone absent trapezoid bone absent upper eyelash absent upper eyelashes absent upper vagina absent urethral opening absent urinary urothione absent urine output absent va deferens absent vaginal lip absent vaginal lips absent vas deferens absent vestibular function absent vestribular nerve absent wrist bone absolute eccentric fixation accelerate linear growth accelerate skeletal maturation accelerated linear growth accelerated skeletal maturation accentuate thoracic kyphosis accentuated thoracic kyphosis accessory cardiac bronchus accessory carpal bone accessory carpal bones accessory cranial suture accessory fallopian tube accessory oral frenulum accessory oral frenum accessory renal artery acellular urinary cast acellular urinary casts achilles tendon calcification achilles tendon contracture achilles tendon contractures achromatic retinal patch achromatic retinal patches acid base imbalance acid phosphatase elevate acid phosphatase elevated acid reflux disease acral lentiginous melanoma acro - osteolysis acroosteolysis of feet acroosteolysis of foot acth receptor defect activate tshr defect activating tshr defect acute abdominal pain acute aspiration pneumonia acute biphenotypic leukaemia acute blood cancer acute coronary syndrome acute cutaneous wound acute demyelinate polyneuropathy acute demyelinating polyneuropathy acute esophageal necrosis acute fatty liver acute hepatic failure acute hepatic steatosis acute infectious pneumonia acute kidney failure acute kidney injury acute liver failure acute liver inflammation acute lymphatic leukaemia acute lymphatic leukemia acute lymphoblastic leukaemia acute lymphoblastic leukemia acute lymphocytic leukaemia acute lymphocytic leukemia acute lymphoid leukaemia acute lymphoid leukemia acute megakaryocytic leukaemia acute megakaryocytic leukemia acute monoblastic leukaemia acute monoblastic leukemia acute monocytic leukaemia acute monocytic leukemia acute myeloblastic leukaemia acute myeloblastic leukemia acute myelocytic leukaemia acute myelocytic leukemia acute myelogenous leukaemia acute myelogenous leukemia acute myeloid leukaemia acute myeloid leukemia acute myelomonocytic leukaemia acute myelomonocytic leukemia acute necrotizing encephalopathy acute otitis media acute otitis medium acute pancreatic inflammation acute phase response acute promyelocytic leukaemia acute promyelocytic leukemia acute renal failure acute respiratory acidosis acute severe asthma acute tubular necrosis acute tubulointerstitial nephritis addison 's disease adductor longus contracture adductor longus contractures adenomatous colonic polyposis adhesion of eyelid adhesion of eyelids adipose tissue loss adrenal gland agenesis adrenal gland carinoma adrenal gland disease adrenal gland dysgenesis adrenal gland dysplasia adrenal gland hypoplasia adrenal medullary hypoplasia adrenocorticotropic hormone deficiency adrenocorticotropic hormone excess adrenocorticotropin receptor defect advanced bone age advanced carpal ossification advanced dental eruption advanced tarsal ossification advanced tooth eruption adverse drug reaction adverse drug response adversive status epilepticus affective epileptic aura age facial appearance age leonine appearance aged facial appearance aged leonine appearance agenesis of bicuspid agenesis of canine agenesis of diaphragm agenesis of eyebrow agenesis of eyebrows agenesis of eyelash agenesis of eyelashes agenesis of eyelid agenesis of eyelids agenesis of incisor agenesis of molar agenesis of premolar agenesis of putamen agenesis of uvula agyrophilic inclusion bodies agyrophilic inclusion body air crescent sign airborn particle hypersensitivity alanine aminotransferase increase alanine aminotransferase increased alar cartilage hypoplasia alarm clock headache albinism , ocular aldehyde oxidase deficiency alien limb phenomenon alkaline phosphatase abnormal allergy to bacteria allergy to dairy allergy to drug allergy to drugs allergy to egg allergy to eggs allergy to feather allergy to feathers allergy to fungi allergy to gluten allergy to insect allergy to insects allergy to parasite allergy to parasites allergy to seafood allergy to venom allodynia of scalp almond shape eye almond shaped eyes alopecia , complete alopecia of scalp alpha - eeg alpha fetoprotein abnormal alternate cross eye alternating cross eyes alveolar bone loss alveolar capillary dysplasia alveolar cell carcinoma alveolar process hypoplasia alveolar ridge cleft alveolar ridge excess alveolar ridge overgrowth alveolar septal thickening ambiguous atrioventricular connection ambiguous atrioventricular connexion ambiguous external genitalia amniotic constriction band amniotic constriction ring amyotrophic lateral sclerosis anal canal adenocarcinoma anal canal neoplasm anal canal tumor anal canal tumour anal intraepithelial neoplasia anal margin melanoma anal margin neoplasm anal mucosal leukoplakia anaplastic thyroid carcinoma anemia , dyserythropoietic aneurysmal bone cyst angel 's kiss angioblastoma of nakagawa angiokeratoma corporis diffusum angle closure glaucoma angulate forearm bone angulated forearm bones anhidrotic ectodermal dysplasia animal dander allergy animal protein allergy ankle flexion contracture ankle joint effusion ankyloblepharon filiforme adnatum annular cutaneous lesion anomalous carpal bone anomalous carpal bones anomalous liver lobulation anomalous tracheal cartilage anomaly of face anomaly of lip anomaly of scalp anonychia of fingernail anonychia of fingernails anonychia of toenail anonychia of toenails anophthalmia , clinical antenatal intracerebral haemorrhage antenatal intracerebral hemorrhage anterior basal encephalocele anterior cervical hypertrichosis anterior chamber anomalies anterior chamber anomaly anterior chamber cell anterior chamber cells anterior chamber cyst anterior chamber flare anterior chamber malformation anterior chamber rbc anterior chamber rbcs anterior chamber synechiae anterior cortical cataract anterior mediastinal mass anterior open bite anterior pituitary agenesis anterior pituitary dysgenesis anterior pituitary hypoplasia anterior polar cataract anterior pyramidal cataract anterior rib cup anterior rib cupping anterior sacral meningocele anterior segment dysgenesis anterior subcapsular cataract anterior tibial bowing anterior vertebral fusion anteriorly concave vertebra anteriorly concave vertebrae anteriorly displace anus anteriorly displace genitalia anteriorly displaced anus anteriorly displaced genitalia anteriorly place anus anteriorly placed anus anteriorly splay rib anteriorly splayed ribs anterograde memory impairment anteroposteriorly shorten larynx anteroposteriorly shortened larynx anti - caspr2 anti carpviii antibody anticentromere antibody positivity antigliadin antibody positivity antilactoferrin antibody positivity antimitochondrial antibody positivity antimongoloid eye slant antineutrophil antibody positivity antinuclear antibody positive antinuclear antibody positivity antiphospholipid antibody positivity antithrombin iii deficiency aortic annular calcification aortic annulus calcification aortic arch aneurysm aortic arch calcification aortic arch dilatation aortic arch hypoplasia aortic arch obstruction aortic atherosclerotic lesion aortic cusp calcification aortic medial fibrosis aortic root aneurysm aortic root dilatation aortic sinus aneurysm aortic valve atresia aortic valve calcification aortic valve prolapse aortic valve regurgitation aortic valve stenosis aortopulmonary collateral arteries aortopulmonary collateral artery aphasic status epilepticus apical hypertrophic cardiomyopathy apical pleural thickening apical pulmonary opacity aplasia cutis congenita aplasia of eyebrow aplasia of eyebrows aplasia of eyelash aplasia of eyelashes aplasia of toe aplasia sinus frontalis aplastic carpal bone aplastic nasopharyngeal adenoid aplastic nasopharyngeal adenoids aplastic olfactory bulb aplastic optic nerve aplastic pubic bone aplastic pubic bones appendiceal mucinous neoplasm apraxia of speech archibald 's sign arcuate artery endotheliosis areflexia of biceps areflexia of brachioradialis areflexia of triceps argyrophilic inclusion bodies argyrophilic inclusion body arrhythmia , supraventricular arrhythmias , supraventricular arterial fibromuscular dysplasia arterial intimal fibrosis arthralgia / arthritis arthrogryposis , congenital arthrogryposis multiplex congenita ascend aorta dilation ascend aorta hypoplasia ascend aortic aneurysm ascend aortic dilation ascend aortic dissection ascending aorta dilation ascending aorta hypoplasia ascending aortic aneurysm ascending aortic dilation ascending aortic dissection aseptic bone necrosis aseptic epiphyseal necrosis aspartate aminotransferase increase aspartate aminotransferase increased asymmetric cry face asymmetric crying face asymmetric leg shorten asymmetric leg shortening asymmetric limb hypertrophy asymmetric limb shorten asymmetric limb shortening asymmetric peripheral demyelination asymmetric philtral column asymmetric philtral columns asymmetric philtral ridge asymmetric philtral ridges asymmetric pupil size asymmetric pupil sizes asymmetric radial dysplasia asymmetric septal hypertrophy asymmetric short stature asymmetrical buttock crease asymmetrical gluteal crease asymmetrical gluteal sulcus asymmetry of cranium asymmetry of face asymmetry of head asymmetry of nostril asymmetry of nostrils asymmetry of skull ataxia , sensory ataxia of gait atherosclerotic cardiovascular disease athetoid cerebral palsy atretic auditory canal atretic auditory canals atretic lacrimal puncta atretic lacrimal punctum atretic occipital cephalocele atretic va deferens atretic vas deferens atria septal defect atrial ectopic beat atrial ectopic beats atrial premature complex atrial reentry tachycardia atrial septal aneurysm atrial septal defect atrial septal dilatation atrial septal hypertrophy atrial septum defect atrial situs ambiguous atrial situs ambiguus atrial situs inversus atrichia of eyelash atrichia of eyelashes atrioventricular canal defect atrioventricular nodal disease atrioventricular nodal tachycardia atrioventricular reentrant tachycardia atrioventricular septal defect atrium septal defect atrophic corpus callosum atrophic muscularis propria atrophic pituitary gland atrophied masseter muscle atrophy masseter muscle atrophy of fat attention deficit disorder atypical absence seizure atypical absence seizures atypical nail growth atypical perifissural nodule auditory canal abnormality auditory canal atresia autism spectrum disorder autism spectrum disorders autoamputation of digit autoamputation of digits autoamputation of foot autoimmune antibody positivity autoimmune haemolytic anaemia autoimmune hemolytic anaemia autoimmune hemolytic anemia automatic atrial tachycardia autonomic bladder dysfunction autonomic epileptic aura autonomic erectile dysfunction autonomic status epilepticus autonomic visceral myopathy av nodal tachycardia avulsion fracture humerus avulsion fracture tibia avulsion fractured humerus avulsion fractured tibia axial muscle atrophy axial muscle stiffness axial muscle weakness axillary epidermoid cyst axonal peripheral neuropathy axonal sensory neuropathy b cell deficiency b cell lymphoma b cell lymphopenia bacteria in urine bacterial cell cast bacterial cell casts baker 's cyst ballooning hepatocyte degeneration barber chair phenomenon barrett 's esophagus barrett 's oesophagus bartholin gland carcinoma basal cell carcinoma basal cell carcinomas basal cell epithelioma basal cell nevus basal cell papilloma basal ganglia calcification basal ganglia calcifications basal ganglia cysts basal ganglia disease basal ganglia dysgenesis basal ganglia edema basal ganglia gliosis basal ganglia necrosis basal ganglia oedema basal ganglion calcification basal ganglion cyst basal ganglion disease basal ganglion dysgenesis basal ganglion edema basal ganglion gliosis basal ganglion necrosis basal ganglion oedema basic constant esotropia basic constant exotropia basilar artery calcification bead septum sign bead vitreous appearance beaded septum sign beaded vitreous appearance beak vertebral body beaked vertebral bodies bear with teeth beau 's line beau 's lines beevor 's sign bell 's palsy belly stick out belly sticks out bence jones proteinuria benign eye tumor benign eye tumour benign migratory glossitis benign muscle neoplasm benign prostatic hyperplasia benign prostatic hypertrophy benign uterine leiomyoma benign uterine leiomyomas beta - alaninuria beta - eeg beta wave electroencephalography biconcave flatten vertebra biconcave flattened vertebrae biconcave vertebral bodies biconcave vertebral body biconvex vertebral bodies biconvex vertebral body bicuspid aortic valve bicuspid pulmonary valve bidirectional ventricular ectopy bidirectional ventricular tachycardia bifid first metacarpal bifid nasal bridge bifid nasal tip bifid palatine uvula bifid terminal phalanges bifid terminal phalanx bifid thoracic vertebra bifid thoracic vertebrae bifid xiphoid process big foramen magnum big low jaw big lower jaw big sella turcica big upper jaw bilateral absent ovaries bilateral absent ovary bilateral acoustic neuroma bilateral acoustic neuromas bilateral breast hypoplasia bilateral choanal atresia bilateral cleft lip bilateral cleft palate bilateral conductive deafness bilateral congenital cataract bilateral congenital cataracts bilateral congenital mydriasis bilateral convulsive seizure bilateral convulsive seizures bilateral coronal craniosynostosis bilateral coxa valga bilateral crossbite malocclusion bilateral cystic dysplasia bilateral digitalize thumb bilateral digitalized thumb bilateral ductus arteriosus bilateral ductus botalli bilateral elbow dislocation bilateral elbow dislocations bilateral facial palsy bilateral facial paralysis bilateral facial weakness bilateral fetal pyelectasia bilateral fetal pyelectasis bilateral foetal pyelectasia bilateral foetal pyelectasis bilateral generalise polymicrogyria bilateral generalised polymicrogyria bilateral generalize polymicrogyria bilateral generalized polymicrogyria bilateral intracerebral calcification bilateral intracerebral calcifications bilateral intracranial calcification bilateral intracranial calcifications bilateral kidney degeneration bilateral lambdoid craniosynostosis bilateral lung agenesis bilateral nerve deafness bilateral perisylvian polymicrogyria bilateral postaxial polydactyly bilateral pulmonary agenesis bilateral radial aplasia bilateral renal agenesis bilateral renal atrophy bilateral renal dysplasia bilateral renal hypoplasia bilateral sensorineural deafness bilateral talipes equinovarus bilateral trilobed lung bilateral trilobed lungs bilateral triphalangeal thumb bilateral triphalangeal thumbs bilateral ulnar hypoplasia bilateral vestibular schwannoma bilateral wrist contracture bile duct cancer bile duct hyperplasia bile duct inflammation bile duct paucity bile duct proliferation biliary duct atresia biliary epithelial hyperplasia biliary tract abnormality biliary tract disease biliary tract neoplasm biliary tract obstruction bilobed right lung binge and purge biphenotypic acute leukaemia biphenotypic acute leukemia bipolar affective disorder birdshot choroidal lesion birdshot choroidal lesions bitemporal forceps mark bitemporal forceps marks bitemporal skull narrowing bitot 's spot bitot 's spots biventricular noncompaction cardiomyopathy black pigment gallstone black pigment gallstones bladder outlet obstruction bleed from mouth bleeding from mouth bleeding in brain blind spot enlargment blister of mouth blistering , generalise blistering , generalised blistering , generalize blistering , generalized blisters of mouth block eustachian tube block retinal artery block tear duct blockage of nose blocked eustachian tube blocked retinal artery blocked tear duct blood circulation disorder blood coagulation disorder blood in stool blood in urine blood platelet disease blood protein disease blood vessel spasm blood vessel tumor blood vessel tumour bloodstream infectious agent bloody bowel movement bloody mucoid diarrhea bloody mucoid diarrhoea blue cone monochromacy blue cone monochromatism bluish around mouth body temperature change body temperature changes body temperature instability bone ankle joint bone carpal bone bone cell cancer bone cervical vertebra bone clavicle bone bone cuboid bone bone distal phalanx bone elbow joint bone facial bone bone fuse sacrum bone fused sacrum bone hindlimb bone bone interphalangeal joint bone leave clavicle bone left clavicle bone lumbar vertebra bone manual digit bone marrow disease bone marrow failure bone marrow hypercellularity bone marrow hypocellularity bone marrow hypoplasia bone metacarpophalangeal joint bone metacarpus skeleton bone right clavicle bone shoulder bone bone shoulder joint bone sternoclavicular joint bone tarsal bone bone thoracic vertebra bony paranasal boss bony paranasal bossing borderline personality disorder born with teeth bouchard 's node bow - leggedness bow calf bone bow forearm bone bow long bone bow low limb bowed calf bone bowed forearm bones bowed long bones bowed lower limbs brachial plexus neuropathy brachy - turricephaly brachydactyly type d brachymesophalangy of feet brachymesophalangy of foot bracket metacarpal epiphyses bracket metacarpal epiphysis brain copper accumulation brain imaging abnormality brain iron deposition brain stem compression branchial cleft cyst branchial cleft fistula branchial cleft sinus breakdown of bone breast bone aplasia breathlessness at rest breus ' mole bridge palm line bridge palmar crease bridge sella turcica bridged palm line bridged palmar crease bridged sella turcica brisk jaw jerk brisk knee jerk brittle scalp hair broad 1st metacarpal broad 1st metatarsal broad 2nd toe broad 3rd toe broad 4th toe broad 5th toe broad alveolar margin broad alveolar margins broad alveolar ridge broad alveolar ridges broad base gait broad based gait broad big toe broad carpal bone broad carpal bones broad cranial suture broad cranial sutures broad cranium shape broad distal hallux broad distal phalanges broad distal phalanx broad femoral head broad femoral metaphyses broad femoral neck broad first metatarsal broad forearm bone broad forearm bones broad great toe broad great toes broad hallux phalanx broad hamate bone broad head shape broad humeral diaphysis broad humeral epiphyses broad humeral epiphysis broad lateral eyebrow broad little toe broad long bone broad long bones broad low face broad lower face broad medial eyebrow broad metacarpal epiphyses broad metacarpal epiphysis broad nasal base broad nasal bridge broad nasal dorsum broad nasal ridge broad nasal root broad nasal septum broad nasal tip broad palpebral fissure broad pinkie toe broad pinky toe broad radial diaphysis broad radial metaphysis broad radioulnar joint broad radioulnar joints broad skull shape broad terminal phalanges broad terminal phalanx broad tibial metaphyses broad ulnar metaphysis broad upturned nose broad xiphoid process broaden nasal bridge broadened nasal bridge broca 's aphasia broken hand bone broken hand bones bronchial artery dilatation bronchial artery enlargement bronchial artery hypertrophy bronchial breath sound bronchial cartilage hypoplasia bronchial wall thickening bronchitis , recurrent brown pigment gallstone brown pigment gallstones buccal aphthous ulcer buccal aphthous ulcers bucket handle fracture bulbar muscle weakness bulbar urethral stricture bulbous nasal tip bullet vertebral body bundle branch block butterfly facial telangiectasia butterfly vertebral arch c. difficile enteritis ca kidney stone ca oxalate nephrolithiasis ca oxalate urolithiasis ca phosphate nephrolithiasis ca phosphate urolithiasis ca2+ kidney stone ca2+ oxalate nephrolithiasis ca2+ oxalate urolithiasis ca2+ phosphate nephrolitiasis ca2+ phosphate urolithiasis calcaneal epiphyseal stipple calcaneal epiphyseal stippling calcific band keratopathy calcification of cartilage calcification of muscle calcification of muscles calcification of rib calcification of ribs calcified choroid plexus calcified ovarian cyst calcify choroid plexus calcium carbonate crystalluria calcium kidney stone calcium oxalate crystalluria calcium oxalate nephrolithiasis calcium oxalate urolithiasis calcium phosphate crystalluria calcium phosphate nephrolithiasis calcium phosphate urolithiasis calf muscle hypertrophy calf muscle hypoplasia calf muscle pain calf muscle pseudohypertrophy calvarial skull defect camptodactyly of feet camptodactyly of finger camptodactyly of foot camptodactyly of hand camptodactyly of hands camptodactyly of toe candida overgrowth syndrome cant low jaw cant upper jaw canted lower jaw canted upper jaw cardiac conduction abnormalities cardiac conduction abnormality cardiac conduction defect cardiac conduction defects cardiac rhythm disturbance cardiac rhythm disturbances cardiac valve calcification cardiomyocyte inclusion bodies cardiomyocyte inclusion body cardiomyocyte mitochondrial proliferation cardiomyopathy , dilate cardiomyopathy , dilated cardiomyopathy , hypertrophic cariosity of teeth carnitine level abnormal carnitine levels abnormal carotid artery aneurysm carotid artery calcification carotid artery dilatation carotid artery dissection carotid artery occlusion carotid artery stenosis carotid artery tortuosity carotid body tumor carotid body tumors carotid body tumour carotid body tumours carotid cavernous fistula carotid sinus syncope carpal bone anomalies carpal bone anomaly carpal bone aplasia carpal bone fracture carpal bone fusion carpal bone hypoplasia carpal bone malsegmentation carpal bone osteolysis carpal delay ossification carpal delayed ossification carpal tunnel syndrome carpet tack sign cartilaginous nasal ossification caseate pulmonary granulomatosis caseating pulmonary granulomatosis cataract , congenital cataract , progressive cataracta pulverulenta centralis catecholamine level abnormal catecholamine levels abnormal caudal interpedicular narrowing cavitating pulmonary mass cavitating pulmonary nodule cavity within brain cavum septum pellucidum celiac artery aneurysm celiac artery compression celiac artery dissection celiac axis syndrome cellular immune defect cellular urinary cast cellular urinary casts cellulitis of eyelid cellulitis of eyelids central adrenal insufficiency central blind spot central cleft palate central corneal dystrophy central diabetes insipidus central diaphragmatic hernia central hand polydactyly central incisor gap central nail canal central nasal defect central nasal groove central pulverulent cataract central retinal exudate central retinitis pigmentosa central serous chorioretinopathy central sleep apnea central sleep apnoea central vertebral hypoplasia centralise sarcomeric nucleus centralised sarcomeric nuclei centralize sarcomeric nucleus centralized sarcomeric nuclei centrilobular groundglass opacification centrilobular groundglass opacity cerebellar cortex degeneration cerebellar cortical atrophy cerebellar hemisphere hypoplasia cerebellar vermal hypoplasia cerebellar vermis aplasia cerebellar vermis atrophy cerebellar vermis hypoplasia cerebral amyloid angiopathy cerebral arteriovenous malformation cerebral artery aneurysm cerebral artery atherosclerosis cerebral artery calcification cerebral artery stenosis cerebral av malformation cerebral berry aneurysm cerebral cavernous malformation cerebral colloid bodies cerebral colloid body cerebral cortex atrophy cerebral cortical atrophy cerebral cortical hemiatrophy cerebral cortical neurodegeneration cerebral cystic malformation cerebral folate deficiency cerebral gyral anomalies cerebral gyral anomaly cerebral hyaline bodies cerebral hyaline body cerebral inclusion bodies cerebral inclusion body cerebral saccular aneurysm cerebral vascular event cerebral vascular events cerebral vein thrombosis cerebral venous angioma cerebral venous thrombosis cerebral ventricular adhesion cerebral ventricular adhesions cerebral ventricular dilatation cerebral visual impairment cerebrospinal fluid pleocytosis cerebrospinal fluid rhinorrhoea cervical aortic arch cervical cord compression cervical ectopia cordis cervical intraepithelial neoplasia cervical segmentation defect cervical spina bifida cervical spine abnormalities cervical spine abnormality cervical spine fusion cervical spine hypermobility cervical spine instability cervical vertebra agenesis cervical vertebra hypoplasia cervical vertebrae agenesis cervical vertebrae hypoplasia cervical vertebral abnormalities cervical vertebral abnormality cervical vertebral agenesis cervical vertebral anomalies cervical vertebral anomaly cervical vertebral dysplasia cervical vertebral fusion chaotic atrial tachycardia chiari i malformation chin skin dimple cholestatic liver disease chondritis of pinna choreoathetosis , episodic choreoathetosis , intermittent choroid plexus calcification choroid plexus carcinoma choroid plexus cyst choroid plexus hypertrophy choroid plexus papilloma choroidal vascular hyperpermeability christmas tree cataract chronic active hepatitis chronic atrial fibrillation chronic atrophic gastritis chronic axonal neuropathy chronic blood cancer chronic calcifying pancreatitis chronic consumption coagulopathy chronic csf lymphocytosis chronic cutaneous wound chronic ear infection chronic extreme exhaustion chronic heart failure chronic hemolytic anaemia chronic hemolytic anemia chronic hepatic encephalopathy chronic hepatic failure chronic idiopathic urticaria chronic intestinal candidiasis chronic irritative conjunctivitis chronic kidney disease chronic lactic acidosis chronic liver failure chronic liver inflammation chronic lung disease chronic lung infection chronic lung infections chronic lymphatic leukaemia chronic lymphatic leukemia chronic lymphocytic leukaemia chronic lymphocytic leukemia chronic lymphocytic meningitis chronic lymphocytic thyroiditis chronic metabolic acidosis chronic mucocutaneous candidiasis chronic myelocytic leukaemia chronic myelocytic leukemia chronic myelogenous leukaemia chronic myelogenous leukemia chronic myeloid leukaemia chronic myeloid leukemia chronic myelomonocytic leukaemia chronic myelomonocytic leukemia chronic noninfectious lymphadenopathy chronic oral candidiasis chronic oral thrush chronic otitis media chronic otitis medium chronic pancreas inflammation chronic pulmonary obstruction chronic renal failure chronic respiratory acidosis chronic sensorineural polyneuropathy chronic sinopulmonary infection chronic sinus disease chronic spontaneous urticaria chronic tinea infection chronic tubulointerstitial nephritis chylolymphatic mesenteric cyst cigarette paper scar cigarette paper scarring ciliary body coloboma ciliary body melanoma ciliary zonule abnormality cilioretinal artery occlusion circulate immune complex circulating immune complexes class i obesity class ii obesity class iii obesity claw hand deformities claw hand deformity clay color stool clay colored stools clay colour stool clay coloured stools cleft ala nasi cleft anterior maxilla cleft bony palate cleft hard palate cleft lower eyelid cleft lower jaw cleft lower lip cleft maxillary alveolus cleft muscular palate cleft nasal ala cleft nasal alae cleft nasal bridge cleft nasal tip cleft of chin cleft of palate cleft of scrotum cleft of uvula cleft primary palate cleft secondary palate cleft soft palate cleft upper eyelid cleft upper lip cleft vertebral arch cleft vertebral arches clinodactyly of feet clinodactyly of foot clinodactyly of hallux closely spaced eye closely spaced eyes clostridium difficile colitis clostridium difficile enteritis cloverleaf cranium shape cloverleaf skull shape clubbing of feet clubbing of finger clubbing of fingers clubbing of foot clubbing of toe clubbing of toes clumsy tandem walking cns foam cell cns foam cells coarctation of aorta coarse facial appearance coarse facial feature coarse facial features coarse hair texture coarse humeral trabecula coarse humeral trabeculae coarse metaphyseal trabecularization coarsen hepatic echotexture coarsened hepatic echotexture coeliac artery aneurysm coeliac artery compression coeliac axis syndrome coffee ground emesis coffee ground vomit coffee ground vomitus coffee grounds emesis coffee grounds vomiting cogan eyelid twitch cogan lid twitch cognition induce seizure cognition induced seizure cognitive epileptic aura coil sperm flagellum coiled sperm flagella cold skin temperature collateral biliary circulation collateral biliary vein collateral biliary veins collier 's sign coloboma of choroid coloboma of iris colonic arteriovenous malformation color vision defect color vision defects colour vision defect colour vision defects columella , broad columella , low columella , short columella , wide coma , hypoglycemic comet tail sign commissural labial pit commissural labial pits commissural lip pit common arterial trunk common atrioventricular canal common brachiocephalic trunk compact spinal bone compensate hemolytic anaemia compensate hemolytic anemia compensated hemolytic anaemia compensated hemolytic anemia compensatory chin depression compensatory chin elevation compensatory head posture complete breech presentation complete dental agenesis complete heart block complete tracheal ring complete tracheal rings completely miss eyeball completely missing eyeball complex febrile convulsion complex febrile seizure complex febrile seizures complex fever fit complex focal seizure complex focal seizures complex organic aciduria complex partial seizure complex partial seizures complex renal cyst compression fracture vertebra compression fractured vertebra compulsive skin picking concave nasal bridge concave nasal dorsum concave nasal ridge concentric hypertrophic cardiomyopathy concrete spinal bone conductive hearing impairment conductive hearing loss cone dysfunction syndrome cone rod dystrophy cone shape tooth cone shaped tooth congenital adrenal hyperplasia congenital adrenal hypoplasia congenital alopecia totalis congenital alveolar dysplasia congenital atrioventricular dissociation congenital bilateral ptosis congenital bone fracture congenital bone fractures congenital bronchial atresia congenital cerebellar hypoplasia congenital cervical hypertrichosis congenital conductive deafness congenital corneal dystrophy congenital craniofacial dysostosis congenital dermal melanocytosis congenital diaphragmatic hernia congenital dyserythropoietic anaemia congenital dyserythropoietic anemia congenital earlobe sinus congenital earlobe sinuses congenital exfoliative erythroderma congenital facial diplegia congenital finger contracture congenital finger contractures congenital foot contracture congenital foot contractures congenital generalise hypertrichosis congenital generalise lipodystrophy congenital generalised hypertrichosis congenital generalised lipodystrophy congenital generalize hypertrichosis congenital generalize lipodystrophy congenital generalized hypertrichosis congenital generalized lipodystrophy congenital haemolytic anaemia congenital haemolytic anemia congenital heart defect congenital heart defects congenital hemolytic anaemia congenital hemolytic anemia congenital hepatic fibrosis congenital hip anomaly congenital hip dislocation congenital hip dislocations congenital hip dysplasia congenital horizontal nystagmus congenital horner syndrome congenital hypoplastic anaemia congenital hypoplastic anemia congenital ichthyosiform erythroderma congenital intracerebral calcification congenital joint contracture congenital joint contractures congenital knee dislocation congenital lactic acidosis congenital lamellar ichthyosis congenital large cranium congenital large head congenital large skull congenital laryngeal stridor congenital liver fibrosis congenital lobar emphysema congenital lobar overinflation congenital malformed nail congenital malformed nails congenital melanosis bulbi congenital mesoblastic nephroma congenital mitral stenosis congenital muscular dystrophy congenital muscular torticollis congenital nephrotic syndrome congenital neurosensory deafness congenital night blindness congenital palmoplantar hyperkeratosis congenital palmoplantar keratoderma congenital palmoplantar keratodermia congenital palmoplantar keratosis congenital panfollicular nevus congenital partial leucoderma congenital perceptive deafness congenital peripheral neuropathy congenital pyloric atresia congenital retinal fold congenital retinal septum congenital sensorineural deafness congenital small head congenital small skull congenital stapes ankylosis congenital talipes calcaneovalgus congenital ventricular aneurysm congenital vertical talus congestion of nose congestive heart failure congruous heteronymous hemianopia congruous homonymous hemianopia conical deciduous incisor conical mandibular incisor conical maxillary incisor conical phalangeal epiphyses conical phalangeal epiphysis conical primary incisor conjunctival cicatricial conjunctivitis conjunctival vascular congestion conjunctivitis , recurrent connective tissue nevi connective tissue nevus conoid mandibular incisor conoid maxillary incisor conoid primary incisor conotruncal heart defect conotruncal heart defects conspicious happy aspect conspicuously happy disposition constrict iliac wing constrict radial neck constrict retinal arteriole constrict visual field constricted iliac wing constricted iliac wings constricted radial neck constricted retinal arterioles constricted visual field constricted visual fields constrictive median neuropathy continuous diaphragm sign continuous heart murmur contracture of elbow contracture of knee contracture of thumb contractures of elbows contractures of knees convergence excess esotropia convex nasal bridge convex nasal dorsum convex nasal ridge convulsive status epilepticus cool skin temperature coolness to palpation cor triatriatum dexter cor triatriatum dextrum cor triatrium sinister corneal endothelial guttata corneal keratic precipitate corneal keratic precipitates corneal stromal edema corneal stromal oedema corneal stromal opacity coronal cleft vertebra coronal cleft vertebrae coronal suture craniosynostosis coronal suture synostosis coronal vertebral cleft coronal vertebral clefts coronary arterial dilatation coronary arteriovenous fistula coronary artery aneurysm coronary artery atherosclerosis coronary artery calcification coronary artery dilatation coronary artery dissection coronary artery ectasia coronary artery fistula coronary artery spasm coronary artery stenosis coronary artery vasospasm coronary cameral fistula coronary ostial atresia coronary sinus dilatation coronary sinus diverticulum coronary sinus enlargement corpus callosum abnormality corpus callosum agenesis corpus callosum atrophy corpus callosum hypoplasia corpus cavernosum sclerosis cortical adrenal neoplasia cortical gyral simplification cortical peritubular capillaritis cortical pulverulent cataract cortical visual impairment corticomedullary renal cyst corticomedullary renal cysts corticospinal tract atrophy corticospinal tract dysfunction corticospinal tract hypoplasia corticospinal tract pallor costal cartilage calcification costochondral joint sclerosis costochondral juctions abnormal costochondral junction pain cotton wool plaque cotton wool plaques cough up blood coughing up blood cow milk allergy coxa valga deformity cranial nerve abnormality cranial nerve compression cranial nerve disease cranial nerve involvement cranial nerve palsies cranial nerve palsy cranial nerve paralysis cranial nerve paresis cranial suture ridge cranial suture ridges cranial suture synostosis cranial vault asymmetry craniosynostosis , sagittal cranium bifidum occultum cranium stop grow cranium stopped growing crazy paving pattern creatine metabolism abnormal creatinine level abnormal creatinine levels abnormal crohn 's disease crook front teeth crook low jaw crook nasal dorsum crook nasal ridge crook nasal septum crook nasal tip crook upper jaw crooked front teeth crooked lower jaw crooked nasal dorsum crooked nasal ridge crooked nasal septum crooked nasal tip crooked upper jaw cross - eyed crowd carpal bone crowd maxillary incisor crowd upper incisor crowd wrist bone crowded carpal bones crowded maxillary incisors crowded upper incisors crowded wrist bones crumple long bone crumpled long bones crust erythematous dermatitis crusting erythematous dermatitis cryoprecipitable immune complex cryoprecipitable immune complexes cryptogenic organise pneumonia cryptogenic organising pneumonia cryptogenic organize pneumonia cryptogenic organizing pneumonia cryptorchidism , bilateral cryptorchidism , unilateral crystalline corneal dystrophy csf lymphocytic pleiocytosis csf polymorphonuclear pleocytosis ct halo sign cuboid vertebral bodies cuboid vertebral body cup radial metaphyses cup ulnar metaphysis cupped radial metaphyses cupped ulnar metaphysis curvature of digit curvature of finger curvature of spine curvature of thumb curve 1st metacarpal curve 1st metatarsal curve hallux phalanx curve hand bone curve thumb bone curve thumb phalanx curve toe bone curve toe phalanx curved 1st metacarpal curved 1st metatarsal curved hallux phalanx curved hand bones curved thumb bone curved thumb phalanx curved toe bone curved toe phalanx curvilinear pericallosal lipoma curvilinear profile ultrastructurally curvilinear profiles ultrastructurally curvilinear subcortical heterotopia cushing 's symphalangism cutaneous finger syndactyly cutaneous lichen amyloidosis cutaneous macular amyloidosis cutaneous nodular amyloidosis cutaneous sclerotic plaque cutis verticis gyrata cyst on spleen cystic artery pseudoaneurysm cystic kidney disease cystic liver disease cystic lung disease cystic lung lesion cystic macular degeneration cystic medial necrosis cystic renal dysplasia cystic retinal degeneration cystoid macular degeneration cystoid macular edema cystoid macular oedema cytokine signal defect cytokine signaling defect cytokine signalling defect damage optic nerve damaged optic nerve dapple metaphyseal sclerosis dappled metaphyseal sclerosis darier 's sign dark yellow urine de morsier syndrome deafness , unilateral deciduous teeth retention declarative memory loss decrease achilles reflex decrease adiponectin level decrease adipose tissue decrease aldosterone production decrease antithrombin iii decrease apolipoprotein level decrease arm strength decrease basophil count decrease blink reflex decrease blood lysine decrease blood phenylalanine decrease body height decrease body weight decrease bowel sound decrease calvarial ossification decrease cardiac index decrease cardiac output decrease circulate progesterone decrease circulating igd decrease circulating ige decrease cmap amplitude decrease corneal diameter decrease corneal reflex decrease corneal sensation decrease corneal sensitivity decrease corneal thickness decrease cortisol production decrease csf glucose decrease csf protein decrease diastolic bp decrease diffusing capacity decrease distal sensation decrease drug efficacy decrease elbow extension decrease elbow mobility decrease electroretinogram amplitude decrease electroretinogram response decrease enamel calcification decrease enamel mineralisation decrease eosinophil count decrease erg amplitude decrease facial expression decrease fat tissue decrease female libido decrease fetal movement decrease fibular diameter decrease finger mobility decrease finger movement decrease foetal movement decrease fundus pigmentation decrease genital pigmentation decrease glucagon level decrease glucose tolerance decrease haemoglobin concentration decrease hair growth decrease hb concentration decrease hdl cholesterol decrease hdl2a concentration decrease hdl2b concentration decrease hdl3a concentration decrease hdl3b concentration decrease hdl3c concentration decrease head circumference decrease hemoglobin concentration decrease hepatic echogenicity decrease hepcidin level decrease hip abduction decrease igg level decrease igm level decrease immune function decrease immunoglobulin a decrease immunoglobulin g decrease immunoglobulin level decrease incisura length decrease interpupillary distance decrease intracranial pressure decrease joint mobility decrease ldlc concentration decrease liver function decrease lung function decrease lymphocyte apoptosis decrease male libido decrease mitochondrial number decrease motor ncv decrease nasal breadth decrease nasal size decrease nasal width decrease orbital separation decrease osteoclast count decrease pain sensation decrease palatal width decrease palmar crease decrease patellar reflex decrease pinprick sensation decrease plasma amh decrease plasma carnitine decrease plasma ferritin decrease plasma fibronectin decrease plasma methionine decrease plasma tsh decrease prealbumin level decrease prothrombin time decrease pulmonary function decrease purine level decrease qrs voltage decrease rbc count decrease reflex response decrease rib number decrease salivary flow decrease scrotal rugation decrease serum aldosterone decrease serum c3 decrease serum c9 decrease serum ceruloplasmin decrease serum ceruloplasmina decrease serum creatinine decrease serum estradiol decrease serum estriol decrease serum estrone decrease serum ferritin decrease serum igg decrease serum immunoglobulin decrease serum iron decrease serum leptin decrease serum methionine decrease serum progesterone decrease serum pth decrease serum zinc decrease sexual hair decrease skull ossification decrease smell sensation decrease spontaneous movement decrease subcutaneous fat decrease sweat gland decrease sweat pore decrease systolic bp decrease taste sensation decrease tear drainage decrease tear secretion decrease tendon reflex decrease testicular size decrease thenar eminence decrease thymic hormone decrease thyrotropin level decrease tooth count decrease tooth mass decrease transferrin saturation decrease urinary chloride decrease urinary k decrease urinary potassium decrease urinary sulfate decrease urinary sulphate decrease urinary urate decrease urine magnesium decrease urine output decrease urine urobilinogen decrease vibration sense decrease visual acuity decrease vital capacity decreased achilles reflex decreased adiponectin level decreased adipose tissue decreased aldosterone production decreased alveolar volume decreased antithrombin iii decreased apolipoprotein level decreased arm strength decreased basophil count decreased biotinidase level decreased blink reflex decreased blood lysine decreased blood phenylalanine decreased body height decreased body weight decreased bowel sounds decreased calvarial ossification decreased cardiac index decreased cardiac output decreased central vision decreased cervical height decreased cervical length decreased circulating igd decreased circulating ige decreased circulating progesterone decreased cmap amplitude decreased corneal diameter decreased corneal reflex decreased corneal sensation decreased corneal sensitivity decreased corneal thickness decreased cortisol production decreased csf glucose decreased csf protein decreased diastolic bp decreased diffusing capacity decreased distal sensation decreased drug efficacy decreased elbow extension decreased elbow mobility decreased electroretinogram amplitude decreased electroretinogram response decreased enamel calcification decreased enamel mineralisation decreased eosinophil count decreased erg amplitude decreased facial expression decreased facial expressions decreased faecal ph decreased fat tissue decreased fecal ph decreased female libido decreased femoral torsion decreased fetal activity decreased fetal movement decreased fetal movements decreased fibular diameter decreased finger mobility decreased finger movement decreased foetal activity decreased foetal movement decreased foetal movements decreased fundus pigmentation decreased genital pigmentation decreased glucagon level decreased glucose tolerance decreased haemoglobin concentration decreased hair growth decreased hb concentration decreased hdl cholesterol decreased hdl2a concentration decreased hdl2b concentration decreased hdl3a concentration decreased hdl3b concentration decreased hdl3c concentration decreased head circumference decreased hemoglobin concentration decreased hepatic echogenicity decreased hepcidin level decreased hip abduction decreased igg level decreased igm level decreased immune function decreased immunoglobulin a decreased immunoglobulin g decreased immunoglobulin level decreased incisura length decreased inflammatory response decreased interpupillary distance decreased intracranial pressure decreased joint mobility decreased ldlc concentration decreased liver function decreased lung function decreased lymphocyte apoptosis decreased male libido decreased mitochondrial number decreased motor ncv decreased muscle mass decreased muscle movement decreased nasal breadth decreased nasal size decreased nasal width decreased orbital separation decreased osteoclast count decreased pain sensation decreased palatal width decreased palmar creases decreased patellar reflex decreased patellar reflexes decreased pineal volume decreased pinprick sensation decreased plasma amh decreased plasma carnitine decreased plasma ferritin decreased plasma fibronectin decreased plasma methionine decreased plasma tsh decreased prealbumin level decreased prothrombin time decreased pulmonary function decreased purine level decreased purine levels decreased qrs voltage decreased rbc count decreased reflex response decreased rib number decreased salivary flow decreased scrotal rugation decreased sensory ncv decreased serum aldosterone decreased serum c3 decreased serum c9 decreased serum ceruloplasmin decreased serum ceruloplasmina decreased serum creatinine decreased serum estradiol decreased serum estriol decreased serum estrone decreased serum ferritin decreased serum igg decreased serum immunoglobulin decreased serum iron decreased serum leptin decreased serum methionine decreased serum progesterone decreased serum pth decreased serum zinc decreased sexual hair decreased skull ossification decreased smell sensation decreased spontaneous movement decreased spontaneous movements decreased subcutaneous fat decreased sweat glands decreased sweat pores decreased systolic bp decreased taste sensation decreased tear drainage decreased tear secretion decreased tendon reflexes decreased testicular size decreased thalamic volume decreased thenar eminence decreased thymic hormone decreased thyrotropin level decreased tooth count decreased tooth mass decreased transferrin saturation decreased urinary chloride decreased urinary k decreased urinary potassium decreased urinary sulfate decreased urinary sulphate decreased urinary urate decreased urine magnesium decreased urine output decreased urine urobilinogen decreased vibration sense decreased vibratory sense decreased visual acuity decreased vital capacity deep anterior chamber deep episcleral hyperaemia deep episcleral hyperemia deep laugh line deep laugh lines deep nasolabial crease deep nasolabial fold deep nasolabial groove deep palm line deep palmar crease deep palmar creases deep plantar crease deep plantar creases deep set eye deep smile line deep smile lines deep vein thrombosis deep venous thrombosis deeply set eye defect of scalp defect of vomer defective cellular immunity defective enamel matrix defective humoral immunity defective lung lobation defective lymphocyte apoptosis defective platelet aggregation defective tooth enamel deficiency of glabella deficient nasal tip deficient platelet aggregation deficient skull ossification deform ankle bone deform forearm bone deform humeral head deform rib cage deform sella turcica deform tarsal bone deformational anterior plagiocephaly deformational frontal plagiocephaly deformational posterior plagiocephaly deformed ankle bones deformed forearm bones deformed humeral heads deformed rib cage deformed sella turcica deformed tarsal bones deformity of face deformity of lip deformity of teeth degeneration of cerebellum degeneration of cerebrum degenerative disc disease degenerative enteric myopathy degenerative enteric neuropathy degenerative intervertebral disc degenerative intervertebral disk degenerative joint disease degenerative liver disease deja vu aura delay bone age delay bone maturation delay calcaneal ossification delay carpal ossification delay cns myelination delay cognitive development delay dental development delay dental eruption delay developmental milestone delay epiphyseal maturation delay epiphyseal ossification delay fontanel closure delay fontanelle closure delay fracture heal delay gastric empty delay intellectual development delay language development delay motor development delay motor milestone delay motor skill delay onset bleed delay patella ossification delay patellar ossification delay peripheral myelination delay permanent dentition delay psychomotor development delay pubertal development delay pubertal growth delay skeletal development delay skeletal maturation delay social development delay speech acquisition delay speech development delay talus ossification delay tarsal ossification delay teeth eruption delay thromboplastin generation delay tooth eruption delay vertebral ossification delayed bone age delayed bone maturation delayed calcaneal ossification delayed carpal ossification delayed cns myelination delayed cognitive development delayed dental development delayed dental eruption delayed developmental milestones delayed epiphyseal maturation delayed epiphyseal ossification delayed fontanel closure delayed fontanelle closure delayed fracture healing delayed gastric emptying delayed intellectual development delayed language development delayed motor development delayed motor milestones delayed motor skills delayed onset bleeding delayed patellae ossification delayed patellar ossification delayed peripheral myelination delayed permanent dentition delayed psychomotor development delayed pubertal development delayed pubertal growth delayed skeletal development delayed skeletal maturation delayed social development delayed speech acquisition delayed speech development delayed talus ossification delayed tarsal ossification delayed teeth eruption delayed thromboplastin generation delayed tooth eruption delayed vertebral ossification deltoid muscle hypoplasia dementia , progressive demyelinate motor neuropathy demyelinate peripheral neuropathy demyelinate sensory neuropathy demyelinating motor neuropathy demyelinating peripheral neuropathy demyelinating sensory neuropathy den in dente dens in dente dense deposit disease dense metaphyseal band dense metaphyseal bands dense metaphyseal line dense metaphyseal lines dense skull cap dense spinal bone dental enamel hypoplasia dental enamel pit dental enamel pits dental enamel pitting dental root anomaly dental root hypoplasia dental root hypotrophy deplete blood volume depleted blood volume depress nasal ala depress nasal bridge depress nasal dorsum depress nasal ridge depress nasal root depress nasal tip depress zygomatic bone depressed malar region depressed nasal alae depressed nasal bridge depressed nasal dorsum depressed nasal ridge depressed nasal root depressed nasal tip depressed supraorbital margin depressed supraorbital margins depressed supraorbital ridge depressed tendon reflex depressed tendon reflexes depressed zygomatic bone dermatitis , atopic dermatoglyphic ridge abnormal dermatoglyphic ridges abnormal descemet membrane fold descemet membrane folds descend aorta hypoplasia descend aortic dissection descending aorta hypoplasia descending aortic dissection desquamative interstitial pneumonitis detachment of fingernail detachment of fingernails detachment of nail detachment of toenail detachment of toenails detrusor sphincter dyssynergia developmental pulmonary anomaly developmental venous anomaly deviate index finger deviate middle finger deviate nasal septum deviate nasal tip deviated index finger deviated middle finger deviated nasal septum deviated nasal tip deviation of finger deviation of mandible deviation of toe deviation of toes dextroposition of aorta diagonal earlobe crease diaphyseal cortical sclerosis diarrhea , recurrent diastema between incisor diastema between incisors diastolic heart murmur different color eye different colored eyes different colour eye different coloured eyes difficult to breathe difficulties in coordination difficulty articulate speech difficulty articulating speech difficulty climb stair difficulty climbing stairs difficulty descend stair difficulty descending stairs difficulty fall asleep difficulty falling asleep difficulty find word difficulty finding words difficulty in coordination difficulty in stand difficulty in standing difficulty in walk difficulty in walking difficulty open mouth difficulty opening mouth difficulty walk backward difficulty walking backward difficulty with flow diffuse alveolar damage diffuse alveolar haemorrhage diffuse alveolar hemorrhage diffuse axonal swelling diffuse brain atrophy diffuse cerebellar atrophy diffuse cerebral atrophy diffuse cerebral calcification diffuse cerebral sclerosis diffuse hepatic steatosis diffuse lupus nephritis diffuse mesangial sclerosis diffuse muscle atrophy diffuse muscle waste diffuse muscle wasting diffuse nuclear cataract diffuse palmoplantar hyperkeratosis diffuse palmoplantar keratoderma diffuse peripheral demyelination diffuse skin atrophy diffuse spongiform leukoencephalopathy diffusely thicken skin diffusely thickened skin digestive system disease digital constriction ring digital flexor tenosynovitis digital pitting scar digitalization of thumb digitalization of thumbs dihydropyrimidine dehydrogenase deficiency dilate cerebral ventricle dilate choroidal vessel dilate cochlear aqueduct dilate fourth ventricle dilate right atrium dilate semicircular canal dilate vestibular aqueduct dilated cerebral ventricle dilated cerebral ventricles dilated choroidal vessels dilated cochlear aqueduct dilated fourth ventricle dilated right atrium dilated semicircular canal dilated third ventricle dilated vestibular aqueduct diminish diaphragmatic motion diminish mental health diminished diaphragmatic motion diminished mental health diminished physical functioning diminished physical health diminished vibratory sense direct coombs positive disciform macular scar discoid lupus erythematosus discoid lupus rash discolor front teeth discolored front teeth discolored lateral incisor discolored lateral incisors discolour front teeth discoloured front teeth discoloured lateral incisor discoloured lateral incisors disconjugate eye movement disconjugate eye movements discordant atrioventricular connection discordant atrioventricular connexion discrete calcific stipple discrete calcific stippling discrete intestinal polyp discrete intestinal polyps disharmonious carpal bone disharmonious wrist bone dislocate arm joint dislocate femoral head dislocate leg joint dislocate radial head dislocate radioulnar joint dislocated arm joints dislocated femoral heads dislocated leg joints dislocated radial head dislocated radial heads dislocated radioulnar joints dislocation of hip dislocation of patella dislocation of toe dislocation of toes disorder of face displace little finger displace pinkie finger displace pinky finger displace tracheal bronchus displaced index finger displaced little finger displaced pinkie finger displaced pinky finger displaced tracheal bronchus disproportionate short stature disproportionate tall stature disproportionately large feet disproportionately large foot disproportionately large hand disproportionately large hands disproportionately large head disproportionately large nose disproportionately long fibula disproportionately long ulna disproportionately long ulnae disproportionately small hand disproportionately small hands disseminate cutaneous wart disseminate intravascular coagulation disseminate molluscum contagiosum disseminate viral infection disseminated cryptosporidium infection disseminated cutaneous warts disseminated intravascular coagulation disseminated molluscum contagiosum disseminated viral infection dissociate horizontal deviation dissociated horizontal deviation dissociated sensory loss dissociated vertical deviation distal acinar emphysema distal femoral bowing distal foot symphalangism distal ileal atresia distal joint laxity distal limb weakness distal motor neuropathy distal muscle atrophy distal muscle degeneration distal muscle waste distal muscle wasting distal muscle weakness distal muscular atrophy distal muscular weakness distal phalangeal hypoplasia distal sensation loss distal sensory impairment distal sensory loss distal tapering femur distal tibial bowing distal ulnar hypoplasia distal urethral duplication distally place thumb distally placed thumb distally taper finger distally tapering fingers distort craniofacial posture distorted craniofacial posture distortion of face disturbance of consciousness disturbances of consciousness diverticulosis of trachea dorsal column degeneration dorsal rib defect dorsocervical fat pad double - joint double - jointed double aortic arch double collect system double collecting system double depressor palsy double elevator palsy double first metacarpal double first metacarpals double joint thumb double jointed thumb double lacrimal puncta double renal artery double upper lip downslanted palpebral fissure downslanted palpebral fissures downslanting palpebral fissure downslanting palpebral fissures downturned oral commisures droop low lip droop nasal tip droop upper eyelid droop upper lip drooping lower lip drooping nasal tip drooping upper eyelid drooping upper lip droopy eyelid skin drug induce anaphylaxis drug induced anaphylaxis drumstick terminal phalanges drumstick terminal phalanx dry eye syndrome dry mouth syndrome ductus arteriosus aneurysm dull facial expression dull foveal reflex dumbbell shape metaphyses dumbbell shape metaphysis dumbbell shaped metaphyses dumbbell shaped metaphysis duodenal arteriovenous malformation duodenal gastric metaplasia duodenal villous atrophy duplex collect system duplex collecting system duplicate calf bone duplicate collecting system duplicate first metatarsal duplicate lacrimal punctum duplicate odontoid process duplicate pancreatic duct duplicate sella turcica duplicate toe bone duplicated calf bone duplicated collecting system duplicated first metatarsals duplicated lacrimal punctum duplicated odontoid process duplicated pancreatic duct duplicated sella turcica duplicated toe bone duplication of eyebrow duplication of tongue dural tail sign dust mite allergy dysembryoplastic neuroepithelial tumor dysharmonic bone age dysharmonic skeletal maturation dyskinetic cerebral palsy dysmetric eye movement dysmetric eye movements dysmetric eye saccade dysmetric eye saccades dysmetric horizontal saccade dysmetric horizontal saccades dysmetric vertical saccade dysmetric vertical saccades dysmorphic facial feature dysmorphic facial features dysmorphic frontal region dysplastic adrenal gland dysplastic adrenal glands dysplastic aortic valve dysplastic corpus callosum dysplastic femoral head dysplastic iliac wing dysplastic iliac wings dysplastic pulmonary valve dysplastic tricuspid valve dyspnea at rest dyspnoea at rest dystonia musculorum deformans dystopic o odontoideum dystopic os odontoideum dystrophic thicken nail dystrophic thickened nails dystrophic toenail change dystrophic toenail changes dystrophic tooth enamel e coli infection e coli infections ear cartilage calcification earlobe , absent early bone maturation early cutaneous photosensitivity early dental caries early dental eruption early inspiratory crackle early inspiratory crackles early sleep onset early tooth loss easily breakable hair ebstein 's anomaly ebstein 's malformation eccentric visual fixation eccrine syringofibroadenomatous hyperplasia echogenic fetal bowel echogenic foetal bowel echogenic intracardiac focus ectopic adrenal gland ectopic atrial tachycardia ectopic bone formation ectopic lacrimal punctum ectopic pancreatic tissue ectopic posterior pituitary ectopic respiratory mucosa ectopic supraventricular rhythm ectopic supraventricular rhythms ectopic thymus tissue ectopic thyroid gland edematous chorionic villi edematous chorionic villus ekg j wave ekg j waves elbow flexion contracture elbow flexion contractures elbow flexion deformity elbow limited extension elevate alkaline phosphatase elevate antinuclear antibody elevate apoaii level elevate apob level elevate apoc3 level elevate blast count elevate blood homocystine elevate blood lysine elevate circulate succinate elevate circulate threonine elevate circulating blast elevate circulating erythropoietin elevate creatine kinase elevate csf fumarate elevate csf protein elevate diastolic bp elevate fsh level elevate glycated haemoglobin elevate glycated hemoglobin elevate glycosylated haemoglobin elevate glycosylated hemoglobin elevate haemoglobin a1c elevate haptoglobin level elevate heart rate elevate hemoglobin a1c elevate hepatic transaminase elevate hepcidin level elevate immunoglobulin e elevate immunoglobulin level elevate insulin level elevate intestinal alp elevate intracellular cystine elevate intraocular pressure elevate leukocyte alp elevate leukocyte cystine elevate lh level elevate liver enzyme elevate luteinizing hormone elevate nasal bridge elevate placental alp elevate plasma aldosterone elevate plasma citrulline elevate plasma pyrophosphate elevate plasma renin elevate propionylcarnitine level elevate prostaglandin e2 elevate residual volume elevate sedimentation rate elevate serum alt elevate serum ast elevate serum cholesterol elevate serum copper elevate serum cpk elevate serum creatinine elevate serum deoxycorticosterone elevate serum ferritin elevate serum ggt elevate serum gonadotropin elevate serum iga elevate serum igd elevate serum ige elevate serum igf1 elevate serum pth elevate serum transaminase elevate sweat chloride elevate sweat cl elevate systolic bp elevate total cholesterol elevate transferrin level elevate transferrin saturation elevate urinary catecholamine elevate urinary cytidine elevate urinary dopamine elevate urinary dpd elevate urinary epinephrine elevate urinary hydroxyproline elevate urinary norepinephrine elevate urinary uromodulin elevate urine glycolate elevate urine mevalonate elevate urine pyrophosphate elevated aldolase level elevated alkaline phosphatase elevated antinuclear antibody elevated apoaii level elevated apob level elevated apoc3 level elevated blast count elevated blood homocystine elevated blood lysine elevated circulating blasts elevated circulating erythropoietin elevated circulating succinate elevated circulating threonine elevated creatine kinase elevated csf fumarate elevated csf protein elevated diastolic bp elevated faecal osmolality elevated faecal ph elevated faecal sodium elevated fecal osmolality elevated fecal ph elevated fecal sodium elevated fsh level elevated glycated haemoglobin elevated glycated hemoglobin elevated glycosylated haemoglobin elevated glycosylated hemoglobin elevated haemoglobin a1c elevated haptoglobin level elevated heart rate elevated hemoglobin a1c elevated hepatic transaminase elevated hepcidin level elevated immunoglobulin e elevated immunoglobulin levels elevated insulin level elevated intestinal alp elevated intracellular cystine elevated intraocular pressure elevated leukocyte alp elevated leukocyte cystine elevated lh level elevated liver enzymes elevated luteinizing hormone elevated nasal bridge elevated placental alp elevated plasma aldosterone elevated plasma citrulline elevated plasma pyrophosphate elevated plasma renin elevated propionylcarnitine level elevated prostaglandin e2 elevated residual volume elevated sedimentation rate elevated serum alt elevated serum ast elevated serum cholesterol elevated serum copper elevated serum cpk elevated serum creatinine elevated serum deoxycorticosterone elevated serum ferritin elevated serum ggt elevated serum gonadotropins elevated serum iga elevated serum igd elevated serum ige elevated serum igf1 elevated serum pth elevated serum transaminases elevated sweat chloride elevated sweat cl elevated systolic bp elevated total cholesterol elevated transferrin level elevated transferrin saturation elevated urinary catecholamines elevated urinary cytidine elevated urinary dopamine elevated urinary dpd elevated urinary epinephrine elevated urinary hydroxyproline elevated urinary norepinephrine elevated urinary uromodulin elevated urine glycolate elevated urine mevalonate elevated urine pyrophosphate elongate femoral neck elongate sella turcica elongated femoral neck elongated sella turcica elongation of face embolism and thrombosis embryonal renal neoplasm emg : myopathy empty delta sign empty follicle syndrome empty ovarian follicle enamel , underdevelop enamel , underdeveloped endocardial cushion defect endocrine system disease endogenous lipoid pneumonia endolymphatic sac tumor endolymphatic sac tumour enlarge adrenal gland enlarge alveolar ridge enlarge basal cistern enlarge cisterna magna enlarge cochlear aqueduct enlarge coronary sinus enlarge eustachian valve enlarge first metatarsal enlarge foramen magnum enlarge fossa interpeduncularis enlarge fourth ventricle enlarge interhemispheric fissure enlarge interpeduncular cistern enlarge interphalangeal joint enlarge labium majora enlarge labium minora enlarge lacrimal gland enlarge longitudinal fissure enlarge male breast enlarge metacarpal epiphysis enlarge metacarpophalangeal joint enlarge parathyroid gland enlarge phalangeal epiphysis enlarge pituitary gland enlarge polycystic kidney enlarge polycystic ovary enlarge posterior fossa enlarge sella turcica enlarge semicircular canal enlarge subarachnoid space enlarge sylvian cistern enlarge sylvian fissure enlarge tear gland enlarge thumb epiphysis enlarge vaginal lip enlarge ventricular system enlarge vestibular aqueduct enlarged adrenal glands enlarged alveolar ridge enlarged basal cistern enlarged cerebral ventricle enlarged cerebral ventricles enlarged cisterna magna enlarged cochlear aqueduct enlarged coronary sinus enlarged costochondral junction enlarged costochondral junctions enlarged eustachian valve enlarged first metatarsal enlarged foramen magnum enlarged fossa interpeduncularis enlarged fourth ventricle enlarged hinge joint enlarged hinge joints enlarged humeral metaphyses enlarged interhemispheric fissure enlarged interpeduncular cistern enlarged interphalangeal joints enlarged labia majora enlarged labia minora enlarged lacrimal glands enlarged lateral fissure enlarged lateral sulcus enlarged lateral ventricle enlarged lateral ventricles enlarged longitudinal fissure enlarged male breast enlarged metacarpal epiphyses enlarged metacarpophalangeal joints enlarged parathyroid glands enlarged peripheral nerve enlarged peripheral nerves enlarged phalangeal epiphyses enlarged pituitary gland enlarged polycystic kidneys enlarged polycystic ovaries enlarged posterior fossa enlarged sella turcica enlarged semicircular canal enlarged subarachnoid space enlarged sylvian cistern enlarged sylvian fissure enlarged tear gland enlarged thalamic volume enlarged thumb epiphysis enlarged vaginal lips enlarged ventricular system enlarged vertebral pedicle enlarged vertebral pedicles enlarged vestibular aqueduct enlargement of mandible enlargment of tonsil enlargment of tonsils enteric neuronal degeneration enteroviral dermatomyositis syndrome eosinophilic bladder infiltration eosinophilic dermal infiltration eosinophilic gallbladder infiltration eosinophilic gastrointestinal disease eosinophilic gastrointestinal disorder eosinophilic gastrointestinal disorders eosinophilic liver infiltration eosinophilic pulmonary infiltration ephelis of lip epidermal inclusion cyst epilepsia partialis continua epilepsia partialis continuum epileptiform eeg discharge epileptiform eeg discharges epiphyseal ossification delay epiphyseal punctate calcification epiphyseal punctate calcifications episodic abdominal pain episodic ammonia intoxication episodic difficulty breathe episodic difficulty breathing episodic flaccid weakness episodic generalise hypotonia episodic generalised hypotonia episodic generalize hypotonia episodic generalized hypotonia episodic hemolytic anaemia episodic hemolytic anemia episodic infantile hypoglycemia episodic metabolic acidosis episodic paroxysmal anxiety episodic peripheral neuropathy episodic respiratory distress episodic slow breathing episodic supraventricular tachycardia episodic under breathe episodic under breathing epithelial corneal erosion epithelial corneal erosions erlenmeyer flask femora erlenmeyer flask femur eruption , advance eruption , advanced eruption , delay eruption , delayed erythema chronicum migrans erythema of eyelid erythrocyte inclusion bodies erythrocyte inclusion body esophageal epidermoid metaplasia esophageal food impaction esophageal squamous papilloma euthyroid multinodular goiter euthyroid multinodular goitre evert low eyelid evert low lip evert upper lip everted lower eyelids everted lower lip everted upper lip ewing 's sarcoma exaggerated lumbar lordosis exaggerated startle response exaggerated thoracic kyphosis excess neck skin excess nuchal skin excessive daytime sleepiness excessive daytime somnolence excessive face hair excessive femoral anteversion excessive hair growth excessive nuchal skin excessive orbital separation excessive purine production excessive wrinkle skin excessive wrinkled skin exercise induce anaphylaxis exercise induced anaphylaxis exocrine pancreatic insufficiency exogenous lipoid pneumonia expand humeral metaphyses expanded humeral metaphyses experiential epileptic aura expiratory air trap expiratory air trapping exposure during pregnancy expressive language delay extensor plantar reflex extensor plantar reflexes extensor plantar response extensor plantar responses external ear malformation external ear malformations external genital hypoplasia externally rotate hip externally rotated hips extinction of electroretinogram extra concha fold extra cranial suture extra eyelid skin extra hair swirl extra hair swirls extra hair whorl extra heart beat extra index finger extra little finger extra middle finger extra oral frenulum extra oral frenum extra pinkie finger extra pinky finger extra ring finger extra wrist bone extra wrist bones extracapillary glomerular hypercellularity extrafoveal choroidal neovascularization extrahepatic portal hypertension extraocular muscle palsy extraocular muscle paralysis extrapyramidal muscular rigidity extrapyramidal tract sign extrapyramidal tract signs extreme axis deviation extreme generalise oedema extreme generalised oedema extreme generalize edema extreme generalized edema extremely elevate cpk extremely elevated cpk exudative pleural effusion exudative retinal detachment eye fix downward eye movement abnormalities eye movement abnormality eye movement issue eye muscle paralysis eye size difference eyeball bulge out eyeballs bulging out eyelash fell out eyelashes fell out eyelid fold in eyelid fold out eyelid folded in eyelid folded out eyelid myoclonia seizure eyelid stay open eyelid stick together eyelid turn in eyelid turn out eyelid turned in eyelid turned out eyelids stay open eyelids stuck together eyes fixed downward facet joint arthrosis facial capillary hemangioma facial fat atrophy facial fat hyperplasia facial fat hypertrophy facial fat wasting facial midline hemangioma facial muscle hypertrophy facial muscle issue facial muscle weakness facial nerve palsy facial nerve paralysis facial shape compression facial shape deformation facial telangiectatic vessel facial telangiectatic vessels factor v deficiency factor vii deficiency factor viii deficiency factor x deficiency factor xi deficiency factor xii deficiency fail liver development failed liver development failure to thrive fair hair color fair hair colour falciform retinal fold fallopian tube carcinoma fallopian tube cyst fallopian tube duplication fallopian tube torsion false pulp stone false pulp stones fasciculation , labiomental fasciculations , labiomental fast heart rate fat cell hypertrophy fat in faeces fat in feces fatty acid abnormal fatty acids abnormal feather retinal heme feathered retinal heme febrile status epilepticus female fetal virilization female foetal virilization female orgasmic disorder female sexual dysfunction femoral acetabular impingement femoral arterial calcification fetal akinesia sequence fetal cystic hygroma fever induced seizure fever induced seizures fiber type grouping fibre type grouping fibroadenosis - breast fibroadenosis of breast fibrocystic lung disease fibrotic muscularis propria fibrous cardiac diverticulum fibrous tissue neoplasm fibular metaphyseal irregularity fibularis muscle weakness fifth finger brachydactyly fifth finger camptodactyly fifth finger clinodactyly fifth finger symphalangism fifth metacarpal hypoplasia fine hair shaft fine hair texture fine motor disability fine motor impairment finger flexor weakness finger joint hyperextensibility finger joint hypermobility finger pad telangiectases fingerprint profile ultrastructurally fingerprint profiles ultrastructurally first metacarpal hypoplasia first metacarpal hypoplastic first metacarpals hypoplastic first metatarsal hypoplasia first metatarsal hypoplastic first metatarsals hypoplastic fishnet retinal pigmentation fishy body odor fishy body odour fistula in ano fitzgerald factor deficiency fix elbow flexion fix facial expression fix head retroflexion fixed elbow flexion fixed facial expression fixed head retroflexion flaky paint dermatosis flare elbow metaphyses flare iliac wing flare nasal ala flare radial metaphysis flared elbow metaphyses flared femoral metaphysis flared humeral metaphysis flared iliac wing flared iliac wings flared nasal alae flared radial metaphysis flat acetabular roof flat acetabular roofs flat facial profile flat facial shape flat glenoid fossa flat head syndrome flat line eeg flat nasal ala flat nasal alae flat nasal bridge flat nasal dorsum flat nasal root flat nasal tip flat nasolabial fold flat posterior cranium flat posterior fossa flat posterior head flat sella turcica flat supraorbital margin flat supraorbital margins flat supraorbital ridge flat vertebral bodies flat vertebral body flatten acetabular roof flatten femoral epiphysis flatten femoral head flatten humeral epiphysis flatten humeral head flatten knee epiphysis flatten metacarpal head flatten metatarsal head flatten nasal bridge flatten nasal tip flatten radial epiphysis flatten radial head flatten rete peg flatten rete ridge flatten vertebral body flattened acetabular roof flattened femoral epiphysis flattened femoral head flattened femoral heads flattened humeral epiphyses flattened humeral heads flattened knee epiphyses flattened metacarpal heads flattened metatarsal heads flattened nasal bridge flattened nasal tip flattened radial epiphyses flattened radial head flattened rete pegs flattened rete ridges flattened vertebral bodies flattening of cranium flattening of head flattening of skull flaxen hair color flaxen hair colour fleischer 's ring fleshy upturned lobule fleshy upturned lobules fluctuation in consciousness fluctuations in consciousness fluid around heart fluid around lung fluid around lungs fluid behind eardrum foamy myocardial transformation focal active colitis focal affective seizure focal atonic seizure focal auditory seizure focal automatism seizure focal autonomic seizure focal autonomic seizures focal aware seizure focal aware seizures focal clonic seizure focal clonic seizures focal cognitive seizure focal cortical dysplasia focal dyscognitive seizure focal eeg abnormality focal emotional seizure focal gustatory seizure focal hemiclonic seizure focal hyperextensible skin focal hyperkinetic seizure focal hypokinetic seizure focal lipid cardiomyopathy focal lupus nephritis focal motor seizure focal motor seizures focal myoclonic seizure focal myoclonic seizures focal olfactory seizure focal onset seizure focal segmental glomerulosclerosis focal sensory seizure focal sensory seizures focal somatosensory seizure focal subretinal deposit focal subretinal deposits focal tonic seizure focal tonic seizures focal vestibular seizure focal visual seizure foetal akinesia sequence foetal cystic hygroma foetor ex ore fold lung syndrome folded lung syndrome follicular infundibulum tumor follicular infundibulum tumour follicular keratotic plug follicular thyroid carcinoma foot bone infection foot dorsiflexor weakness foot extensor weakness foramen magnum stenosis forearm reduction defect forearm reduction defects forward face earlobe forward facing earlobe fourth heart sound foveal reflex absent fracture carpal bone fracture clavicle bone fracture cuboid bone fracture distal phalanx fracture elbow joint fracture facial bone fracture forearm bone fracture fuse sacrum fracture hindlimb bone fracture interphalangeal joint fracture leave clavicle fracture low leg fracture lumbar vertebra fracture manual digit fracture metacarpophalangeal joint fracture metacarpus skeleton fracture right clavicle fracture shoulder bone fracture sternoclavicular joint fracture tarsal bone fracture thoracic vertebra fractured carpal bone fractured cervical vertebra fractured clavicle bone fractured cuboid bone fractured distal phalanx fractured elbow joint fractured facial bone fractured foot bone fractured forearm bones fractured fused sacrum fractured hand bone fractured hand bones fractured hindlimb bone fractured interphalangeal joint fractured left clavicle fractured lower leg fractured lumbar vertebra fractured manual digit fractured metacarpophalangeal joint fractured metacarpus skeleton fractured right clavicle fractured shoulder bone fractured sternoclavicular joint fractured tarsal bone fractured thoracic vertebra frank breech presentation frayed humeral metaphyses freezing of gait frequent bacterial infection frequent bacterial infections frequent break bone frequent broken bones frequent candida infection frequent candida infections frequent ear infection frequent ear infections frequent opportunistic infection frequent opportunistic infections frequent otitis media frequent otitis medium frequent pyogenic infection frequent pyogenic infections frequent respiratory infection frequent respiratory infections frequent temper tantrum frequent temper tantrums friedreich 's disease froment thumb sign frontal cortex degeneration frontal cortical atrophy frontal cutaneous lipoma frontal lobe dementia frontal lobe hypoplasia frontal open bite frontal release reflex frontal release reflexes frontal release sign frontal release signs frontal suture depression frontal venous angioma frontalis muscle weakness frontoparietal cortical dysplasia frontotemporal cerebral atrophy full low lip full lower lip full upper lip fullness of columella fullness of eyelid fullness of eyelids fully accomodative esotropia fulminant hepatic failure fulminant infectious mononucleosis functional intestinal obstruction functional motor deficit functional motor problem functional motor problems functional respiratory abnormality fundic gland polyp fundic gland polyposis fundic gland polyps funny look face funny looking face furcate cord insertion fuse ankle bone fuse carpal bone fuse finger bone fuse forearm bone fuse labium majora fuse labium minora fuse lumbar vertebra fuse middle finger fuse thoracic vertebra fuse thumb bone fuse thumb phalanx fuse toe bone fuse wrist bone fused ankle bones fused carpal bones fused cervical vertebra fused cervical vertebrae fused finger bones fused forearm bones fused hand bone fused hand bones fused inner lip fused inner lips fused labia majora fused labia minora fused lumbar vertebrae fused middle finger fused thoracic vertebrae fused thumb bones fused thumb phalanges fused toe bones fused wrist bones fusiform cerebral aneurysm fusion involve digit fusion involving digits fusion of gum fusion of gums fusion of joint fusion of joints fusion of metatarsal fusion of metatarsals fusion of teeth fusion of thamali gall bladder perforation gap between teeth gap jaw appearance gap mouth appearance gaped jawed appearance gaped mouthed appearance gaps between teeth gastric arteriovenous malformation gastric duplication cyst gastric fluid xenobiotic gastroesophageal reflux disease gastrointestinal arteriovenous malformation gastrointestinal hamartomatous polyp gastrointestinal hamartomatous polyps gastrointestinal stroma tumor gastrointestinal stroma tumour gastrointestinal stromal tumor gastrointestinal stromal tumors gastrointestinal stromal tumour gastrointestinal stromal tumours gastrointestinal tract defect gastrointestinal tract defects gastrointestinal tract neoplasia gastrointestinal tract neoplasm gastrointestinal tract tumor gastrointestinal tract tumour gelasin of chin gemination of tooth generalise amyloid deposition generalise arterial calcification generalise arterial tortuosity generalise atonic seizure generalise bone demineralization generalise brain atrophy generalise brain degeneration generalise bronze hyperpigmentation generalise clonic seizure generalise dental spacing generalise epileptic myoclonus generalise gum disease generalise hypertonic seizure generalise joint laxity generalise keratosis follicularis generalise morning stiffness generalise muscle weakness generalise muscular hypotonia generalise myoclonic seizure generalise neonatal hypotonia generalise nonspecific aminoaciduria generalise onset seizure generalise papillary lesion generalise periodontal disease generalise seborrheic dermatitis generalise seborrheic eczema generalise tissue oedema generalise tonic seizure generalise twisted artery generalised amyloid deposition generalised arterial calcification generalised arterial tortuosity generalised atonic seizure generalised bone demineralization generalised brain atrophy generalised brain degeneration generalised bronze hyperpigmentation generalised cerebral atrophy generalised clonic seizure generalised clonic seizures generalised dental spacing generalised epileptic myoclonus generalised gum disease generalised hypertonic seizure generalised joint laxity generalised keratosis follicularis generalised morning stiffness generalised muscle atrophy generalised muscle degeneration generalised muscle hypertrophy generalised muscle waste generalised muscle wasting generalised muscle weakness generalised muscular hypotonia generalised myoclonic seizure generalised myoclonic seizures generalised neonatal hypotonia generalised nonspecific aminoaciduria generalised onset seizure generalised papillary lesions generalised periodontal disease generalised seborrheic dermatitis generalised seborrheic eczema generalised tissue oedema generalised tonic seizure generalised tonic seizures generalised twisted arteries generalize amyloid deposition generalize arterial calcification generalize arterial tortuosity generalize atonic seizure generalize bone demineralization generalize brain atrophy generalize brain degeneration generalize bronze hyperpigmentation generalize cerebral atrophy generalize clonic seizure generalize dental spacing generalize epileptic myoclonus generalize gum disease generalize hypertonic seizure generalize joint laxity generalize keratosis follicularis generalize morning stiffness generalize muscle atrophy generalize muscle degeneration generalize muscle hypertrophy generalize muscle waste generalize muscle weakness generalize muscular hypotonia generalize myoclonic seizure generalize neonatal hypotonia generalize nonspecific aminoaciduria generalize onset seizure generalize papillary lesion generalize periodontal disease generalize seborrheic dermatitis generalize seborrheic eczema generalize tissue edema generalize tonic seizure generalize twisted artery generalized amyloid deposition generalized arterial calcification generalized arterial tortuosity generalized atonic seizure generalized bone demineralization generalized brain atrophy generalized brain degeneration generalized bronze hyperpigmentation generalized cerebral atrophy generalized clonic seizure generalized clonic seizures generalized dental spacing generalized epileptic myoclonus generalized gum disease generalized hypertonic seizure generalized joint laxity generalized keratosis follicularis generalized morning stiffness generalized muscle atrophy generalized muscle degeneration generalized muscle hypertrophy generalized muscle wasting generalized muscle weakness generalized muscular hypotonia generalized myoclonic seizure generalized myoclonic seizures generalized neonatal hypotonia generalized nonspecific aminoaciduria generalized onset seizure generalized papillary lesions generalized periodontal disease generalized seborrheic dermatitis generalized seborrheic eczema generalized tissue edema generalized tonic seizure generalized tonic seizures generalized twisted arteries genital functional abnormality genital tract atresia genitalia , ephelides genitourinary tract anomalies genitourinary tract anomaly genitourinary tract malformation genitourinary tract neoplasia genitourinary tract neoplasm genitourinary tract tumor genitourinary tract tumors genitourinary tract tumour genitourinary tract tumours germ cell neoplasia germinal matrix haemorrhage germinal matrix hemorrhage gi arteriovenous malformation gi stroma tumor gi stroma tumour gi tract tumor gi tract tumour giant cell hepatitis giant conjunctival papilla giant conjunctival papillae giant eustachian valve giant hypertrophic gastritis giant neutrophil granule giant neutrophil granules giant pigment mole giant pigment nevus giant pigmented mole giant pigmented nevus ginger hair color ginger hair colour gingival fibrous nodule gingival fibrous nodules gingival melanin pigmentation glabellar capillary hemangioma glandular cell neoplasm glenoid fossa hypoplasia global brain atrophy global cerebellar dysplasia global developmental delay global mesangial sclerosis global proximal tubulopathy global systolic dysfunction globus pallidus calcification glomerular c3 deposition glomerular capillary collapse glomerular capillary congestion glomerular capillary microaneurysm glomerular crescent formation glomerular endocapillary hypercellularity glomerular extracapillary fibrin glomerular extracapillary hypercellularity glomerular fibrin thrombus glomerular fibrinoid necrosis glomerular hyaline pseudothrombus glomerular karyhorrhectic debris glomerular lipoprotein thrombus glomerular subendothelial widening glomerular subepithelial deposit glomerular subepithelial deposits glomerular synechial adhesion glomerulocystic kidney disease glomus jugular tumor glomus jugular tumour glomus jugulare tumor glomus jugulare tumors glomus jugulare tumour glomus jugulare tumours glomus tympanicum paraganglioma glomus vagale paraganglioma glomus vagale tumor glomus vagale tumour glossitis areata exfoliativa glucose in urine glucose tolerance decrease glucose tolerance decreased glucosephosphate isomerase deficiency glutathione synthetase deficiency gonadoblastoma , female gonadoblastoma , male gottron 's papule gottron 's papules gracile long bone gracile long bones grade i vur grade ii vur grade iii vur grade iv vur grade v vur grand mal seizure grand mal seizures granular corneal dystrophy granular macular appearance granulomatous coronary arteritis gray matter heterotopia gray matter heterotopias gray tooth shade green - blind green - weak green color teeth green colored teeth green colour teeth green coloured teeth green tooth shade grey matter heterotopia grey matter heterotopias grey tooth shade gross motor delay gross motor impairment ground glass opacities ground glass opacity growth arrest line growth arrest lines growth hormone deficiency growth hormone excess growth resumption line growth resumption lines haematopoietic maturation arrest haemoglobin in urine hageman factor deficiency hair - pulling hair follicle neoplasm hairy elbow syndrome hallucination of sound hallucinations of sound hamartoma of tongue hamartomatous stomach polyp hamartomatous stomach polyps hammock mitral valve hand bone sclerosis hand mirror movement hand mirror movements hand muscle atrophy hand muscle degeneration hand muscle wasting hand muscle weakness harden artery wall hardened artery wall has loud snoring hashimoto 's thyroiditis have loud snore have loud snoring head - banging head stop grow head stopped growing heart conduction disorder heart rhythm disorder heart rhythm disorders heart septal defect heart shape uterus heart shaped uterus heart stop beat heart stops beating heavy supraorbital ridge heavy supraorbital ridges heberden 's node heinz body anaemia heinz body anemia helicobacter pylori infection helicobacter pylorus infection helix , crimp helix , crimped hematopoietic maturation arrest hemi - vertebra hemi - vertebrae hemiplegia / hemiparesis hemiretinal vein occlusion hemoglobin in urine hemolytic uremic syndrome hemorrhagic ovarian cyst hepatic anomalous lobulation hepatic arteriovenous malformation hepatic bridging fibrosis hepatic foam cell hepatic foam cells hepatic lobular inflammation hepatic periportal necrosis hepatic portal inflammation hepatic pulmonary fusion hepatic vascular malformation hepatic vascular malformations hepatic vein thrombosis hepatic venous thrombosis hereditary gingival fibromatosis herniated abdominal wall herniated intervertebral nuclei herniated intervertebral nucleus herpes simplex encephalitis herpetiform corneal ulcer herpetiform corneal ulceration herpetiform corneal ulcers heteropic thyroid gland hidrotic ectodermal dysplasia high anterior hairline high arch eyebrow high arch palate high arched eyebrows high arched palate high axial triradius high bili total high blood glucose high blood pressure high blood sugar high eye pressure high ferritin level high frontal hairline high iliac wing high iliac wings high immunoglobulin e high intestinal obstruction high intracellular na high liver enzyme high liver enzymes high lymphocyte count high narrow palate high nasal bridge high pitch voice high pitched voice high plasma glutamine high posterior hairline high pulse pressure high serum calcidiol high serum calcifediol high serum calcitriol high set ear high set ears high shoulder blade high urine bacteria high vault palate high vaulted palate highly arch eyebrow highly arched eyebrow highly elevate cpk highly elevated cpk hip adductor weakness hip flexion contracture hip flexion contractures hip flexor weakness hip girdle amyotrophy hip girdle weakness hip joint hypermobility hip joint pain histiocytosis , mucinous histrionic personality disorder hobby horse gait hodgkin 's lymphoma holmes ' tremor homer wright rosette honeycomb palmoplantar hyperkeratosis honeycomb retinal degeneration hood low eyelid hood upper eyelid hooded lower eyelid hooded upper eyelid hooding of eyelid hooding of eyelids horizontal acetabular roof horizontal acetabular roofs horizontal eyelid laxity horizontal incomitant strabismus horizontal jerk nystagmus horizontal menton crease horizontal opticokinetic nystagmus horizontal pendular nystagmus horner 's syndrome humeral cortical irregularity humeral cortical thickening humeral cortical thinning humeral diaphyseal lysis humeral lytic defect humeral lytic defects humeral metaphyseal irregularity humeral oval transradiancy humeral radial synostosis humeral sclerotic foci humeral sclerotic focus humeral ulnar synostosis hyperactive achilles reflex hyperactive ankle reflex hyperactive bowel sound hyperactive bowel sounds hyperactive patellar reflex hyperammonemia , acute hyperammonemia , asymptomatic hyperautofluorescent macular lesion hyperautofluorescent retinal lesion hyperbeta - alaninemia hyperbilirubinemia , neonatal hyperchloremic metabolic acidosis hyperchromic macrocytic anaemia hyperchromic macrocytic anemia hyperconvex thumb nail hyperconvex thumb nails hyperdense pulmonary mass hyperelastic chest skin hyperelastic face skin hyperextensibility at elbow hyperextensibility at wrist hyperextensibility at wrists hyperextensible hand joint hyperextensible hand joints hyperhidrosis , episodic hyperkalemic metabolic acidosis hyperkalemic periodic paralysis hyperkeratosis , generalise hyperkeratosis , generalised hyperkeratosis , generalize hyperkeratosis , generalized hyperkeratosis , gingival hyperkeratosis lenticularis perstans hyperkeratosis with erythema hyperkinetic status epilepticus hypermetric downward saccade hypermetric downward saccades hypermetric horizontal saccade hypermetric horizontal saccades hyperossification of skull hyperostosis cranialis interna hyperostosis frontalis interna hyperostosis of skull hyperpigmentation of eyelid hyperpigmentation of eyelids hyperpigmented skin patch hyperpigmented skin patches hyperplasia of cheek hyperplasia of cheekbone hyperplasia of cheeks hyperplasia of columella hyperplasia of forehead hyperplasia of glabella hyperplasia of incisor hyperplasia of midface hyperplasia of nose hyperplasia of tooth hyperplasia of uvula hyperplastic antihelix stem hyperplastic callus formation hyperplastic colonic polyposis hyperplastic femoral trochanter hyperplastic femoral trochanters hyperplastic helix crus hyperplastic labia majora hyperplastic labium majora hyperplastic vertebral pedicle hyperplastic vertebral pedicles hyperpnea , episodic hyperreflexia in knee hyperreflexia in knees hyperthermia , episodic hypertrichotic hyperpigmented patch hypertrophic antihelix stem hypertrophic auricular cartilage hypertrophic helix crus hypertrophic labia minora hypertrophic labium minora hypertrophic nerve change hypertrophic nerve changes hypertrophic pancreatic islet hypertrophic pancreatic islets hypertrophic urinary bladder hypertrophied alveolar ridge hypertrophy alveolar ridge hypertrophy of cheek hypertrophy of cheeks hypertrophy of forehead hypertrophy of incisor hypertrophy of mandible hypertrophy of maxilla hypertrophy of midface hypertrophy of nose hypertrophy of tooth hypoactive bowel sound hypoactive bowel sounds hypoautofluorescent macular lesion hypoautofluorescent retinal lesion hypochloremic metabolic alkalosis hypochromic microcytic anaemia hypochromic microcytic anemia hypoechogenic renal cortex hypoglycaemia , recurrent hypoglycemia , hypoketotic hypoglycemia , recurrent hypogonadism , female hypohidrosis or hyperhidrosis hypohidrotic ectodermal dysplasia hypokalemic metabolic alkalosis hypokalemic periodic paresis hypomature dental enamel hypometric horizontal saccade hypometric horizontal saccades hypometric upward saccade hypometric upward saccades hypomineralization of enamel hypoossification of skull hypophalangy of toe hypophalangy of toes hypopigmentation of hair hypopigmented skin patch hypopigmented skin patches hypoplasia of cerebellum hypoplasia of cheekbone hypoplasia of columella hypoplasia of eyelid hypoplasia of face hypoplasia of forehead hypoplasia of glabella hypoplasia of mandible hypoplasia of midface hypoplasia of penis hypoplasia of teeth hypoplasic terminal phalanges hypoplasic terminal phalanx hypoplastic 1st metacarpal hypoplastic 2nd metacarpal hypoplastic 3rd metacarpal hypoplastic 5th metacarpal hypoplastic adrenal gland hypoplastic adrenal glands hypoplastic ala nasae hypoplastic ala nasi hypoplastic alae nasae hypoplastic alae nasi hypoplastic alar cartilage hypoplastic alar nasae hypoplastic alveolar bone hypoplastic anterior commissure hypoplastic aortic arch hypoplastic big toe hypoplastic big toes hypoplastic bone marrow hypoplastic brain stem hypoplastic calf muscle hypoplastic calf muscles hypoplastic carotid canal hypoplastic carpal bone hypoplastic carpal bones hypoplastic cerebellar vermis hypoplastic cervical vertebra hypoplastic cervical vertebrae hypoplastic coccygeal vertebra hypoplastic coccygeal vertebrae hypoplastic corpus callosum hypoplastic deciduous teeth hypoplastic dermoepidermal hemidesmosomes hypoplastic distal humeri hypoplastic distal humerus hypoplastic distal phalanges hypoplastic distal phalanx hypoplastic distal ulna hypoplastic facial bone hypoplastic facial bones hypoplastic femoral head hypoplastic femoral neck hypoplastic fifth fingernail hypoplastic fifth toenail hypoplastic first rib hypoplastic first ribs hypoplastic fourth metacarpal hypoplastic frontal bone hypoplastic frontal bones hypoplastic frontal lobe hypoplastic frontal lobes hypoplastic frontal sinus hypoplastic frontal sinuses hypoplastic glenoid fossa hypoplastic iliac ala hypoplastic iliac alae hypoplastic iliac bodies hypoplastic iliac body hypoplastic iliac wing hypoplastic iliac wings hypoplastic inferior ilia hypoplastic inferior ilium hypoplastic iris stoma hypoplastic iris stroma hypoplastic ischial bone hypoplastic ischial bones hypoplastic ischiopubic rami hypoplastic ischiopubic ramus hypoplastic labia majora hypoplastic labia minora hypoplastic labium majora hypoplastic labium minora hypoplastic lacrimal duct hypoplastic lacrimal gland hypoplastic lacrimal puncta hypoplastic leave atrium hypoplastic leave heart hypoplastic left atrium hypoplastic left heart hypoplastic male genitalia hypoplastic mandible condyle hypoplastic maxillary bone hypoplastic maxillary bones hypoplastic middle phalanges hypoplastic middle phalanx hypoplastic nasal ala hypoplastic nasal alae hypoplastic nasal bridge hypoplastic nasal septum hypoplastic nasal tip hypoplastic nasal wing hypoplastic nasal wings hypoplastic nasopharyngeal adenoid hypoplastic nasopharyngeal adenoids hypoplastic odontoid process hypoplastic olfactory bulb hypoplastic olfactory lobe hypoplastic olfactory lobes hypoplastic optic disc hypoplastic optic discs hypoplastic optic disk hypoplastic optic disks hypoplastic optic nerve hypoplastic optic nerves hypoplastic palmar crease hypoplastic palmar creases hypoplastic pectoral muscle hypoplastic pelvic bone hypoplastic pelvic bones hypoplastic pilosebaceous unit hypoplastic pilosebaceous units hypoplastic pubic bone hypoplastic pubic bones hypoplastic pubic rami hypoplastic pubic ramus hypoplastic pulmonary vein hypoplastic pulmonary veins hypoplastic radial head hypoplastic right atrium hypoplastic right heart hypoplastic sacral vertebra hypoplastic sacral vertebrae hypoplastic spinal process hypoplastic spinal processes hypoplastic superior helix hypoplastic supraorbital ridge hypoplastic supraorbital ridges hypoplastic sweat gland hypoplastic sweat glands hypoplastic terminal phalanges hypoplastic terminal phalanx hypoplastic thenar eminence hypoplastic thenar eminences hypoplastic thumb phalanges hypoplastic thumb phalanx hypoplastic tooth bud hypoplastic tooth buds hypoplastic tricuspid valve hypoplastic vertebral bodies hypoplastic vertebral body hypoplastic vertebral pedicle hyporeflexia of biceps hyporeflexia of triceps hypothalamic arteriovenous malformation hypothalamic gnrh deficiency hypothyroidism , congenital hypotonia , early hypotonia , generalise hypotonia , generalised hypotonia , generalize hypotonia , generalized hypotonia , neonatal hypotonia , severe hypotonia in infancy hypotrichosis , generalise hypotrichosis , generalised hypotrichosis , generalize hypotrichosis , generalized hypotrichosis of eyebrow hypotrichosis of eyelash hypotrichosis of eyelashes hypotrichosis on scalp hypotrophic alveolar ridge hypotrophic facial bone hypotrophic facial bones hypotrophic facial musculature hypotrophic facial skeleton hypotrophic frontal bone hypotrophic frontal bones hypotrophic frontal sinus hypotrophic low eyelid hypotrophic low jaw hypotrophic lower eyelid hypotrophic lower jaw hypotrophic malar bone hypotrophic mandibular condyle hypotrophic nasal bone hypotrophic nasal bridge hypotrophic nasal tip hypotrophic neck muscle hypotrophic paranasal sinus hypotrophic tooth germ hypotrophic upper eyelid hypotrophic zygomatic bone hypoventilation during sleep hypsarrhythmia by eeg ichthyosis , congenital idiopathic gingival hyperplasia idiopathic thrombocytopenic purpura idioventricular escape rhythm iliac arterial calcification iliac crest serration imbalanced haemoglobin synthesis imbalanced hb synthesis imbalanced hemoglobin synthesis immature tooth enamel immunoglobulin igg2 deficiency impaired clot retraction impaired cytokine signal impaired cytokine signaling impaired cytokine signalling impaired declarative memory impaired delay hypersensitivity impaired delayed hypersensitivity impaired distal proprioception impaired executive functioning impaired feeding ability impaired galactose metabolism impaired glucose tolerance impaired leukocyte adhesion impaired lung function impaired myocardial contractility impaired neutrophil chemotaxis impaired ocular abduction impaired ocular adduction impaired oxidative burst impaired pain sensation impaired platelet adhesion impaired platelet aggregation impaired procedural memory impaired pulmonary function impaired self monitoring impaired smooth pursuit impaired social interaction impaired social interactions impaired social reciprocity impaired speech development impaired tactile sensation impaired tandem gait impaired task monitoring impaired task shift impaired task shifting impaired taste sensation impaired temperature sensation impaired tendon reflex impaired tendon reflexes impaired thermal sensitivity impaired thrombocyte adhesion impaired thrombocytes adhesion impaired toileting ability impaired touch localisation impaired touch localization impaired touch sensation impaired transferring ability impaired urinary acidification impaired vestibular function impaired vibratory sensation impaired vibratory sense imperforate atrioventricular valve imperforate nasolacrimal duct imperforate nasolacrimal ducts imperforate tricuspid valve inability to exercise inability to move inability to speak inability to walk inactivate tshr defect inactivating tshr defect inappropriate adh secretion inappropriate sexual behavior inappropriate sexual behaviour inappropriate sinus tachycardia inappropriately normal tsh inclusion body fibromatosis incomplete breech presentation incomplete male pseudohermaphroditism incomplete septal cirrhosis increase adiponectin level increase adipose tissue increase aldosterone production increase alkaline phosphatase increase alveolar volume increase aortic stiffness increase arm span increase basophil count increase bitemporal dimension increase bitemporal width increase bleeding time increase blood alanine increase blood gastrin increase blood lactate increase blood pressure increase body height increase body weight increase bone density increase bone fragility increase bone resorption increase bowel sound increase calvarial thickness increase capillary permeability increase cardiac index increase cardiac output increase carry angle increase cellular radiosensitivity increase cerebral lipofuscin increase cholesterol ester increase cholesteryl ester increase chromosomal breakage increase circulate progesterone increase circulating isovalerate increase circulating lutropin increase circulating trypsinogen increase connective tissue increase corneal curvature increase corneal diameter increase corneal thickness increase cortisol production increase cotinine level increase creatine kinase increase creatine phosphokinase increase csf glucose increase csf lactate increase csf protein increase dermatoglyphic whorl increase diffusing capacity increase estradiol level increase fat tissue increase female libido increase femoral torsion increase fetal movement increase fibular diameter increase foetal movement increase follicular density increase gamma globulin increase genital pigmentation increase glucagon level increase haemoglobin a2 increase haemoglobin concentration increase haemoglobin f increase hair density increase hb concentration increase hba1c level increase hba2 haemoglobin increase hba2 hemoglobin increase hdl2a concentration increase hdl2b concentration increase hdl3a concentration increase hdl3b concentration increase hdl3c concentration increase head circumference increase heart rate increase heart size increase hemoglobin a2 increase hemoglobin concentration increase hemoglobin f increase hepatic echogenicity increase igd level increase igg level increase igm level increase im fat increase immunoglobulin level increase immunoreactive trypsinogen increase incisura length increase incisura width increase intercanthal distance increase interpupillary distance increase intervertebral space increase intraabdominal fat increase intracellular sodium increase intracranial pressure increase intramuscular fat increase intraocular pressure increase joint mobility increase ldl cholesterol increase ldlc concentration increase linear growth increase liver enzyme increase lumbar lordosis increase lymphocyte apoptosis increase male libido increase megakaryocyte count increase micromegakaryocyte count increase mitochondrial number increase muscle fatiguability increase nail curvature increase nasal breadth increase nasal height increase nasal length increase nasal size increase nasal width increase neutrophil mitochondrion increase neutrophil ribosome increase nipple number increase nuchal translucency increase oocyte death increase palatal height increase peripheral myelination increase pineal volume increase placental thickness increase plasma acth increase plasma amh increase plasma ca125 increase plasma cea increase plasma ferritin increase plasma renin increase plasma triglyceride increase platelet count increase prps1 activity increase purine level increase qrs voltage increase rbc count increase rbc mass increase reticulocyte count increase retinal vascularity increase ro production increase rouleau formation increase sarcoplasmic glycogen increase scrotal rugation increase serum alanine increase serum androstenedione increase serum calcitriol increase serum ck increase serum creatinine increase serum estradiol increase serum estriol increase serum estrone increase serum ft3 increase serum iga increase serum igd increase serum igf1 increase serum iron increase serum lactate increase serum leptin increase serum oestradiol increase serum pyruvate increase serum renin increase serum serotonin increase serum triglyceride increase serum zinc increase skin pigmentation increase skull ossification increase spleen size increase sputum production increase startle response increase stomach size increase tear production increase thigh size increase thyrotropin level increase tooth count increase total bilirubin increase total cholesterol increase urinary alanine increase urinary chloride increase urinary epinephrine increase urinary glycerol increase urinary hypoxanthine increase urinary k increase urinary mucus increase urinary ngal increase urinary orosomucoid increase urinary polyhexose increase urinary porphobilinogen increase urinary potassium increase urinary sedoheptulose increase urinary sialyloligosaccharides increase urinary sodium increase urinary sulfate increase urinary sulfite increase urinary sulphate increase urinary taurine increase urinary thiosulfate increase urinary urate increase urinary xanthine increase urine lactate increase urine output increase urine urobilinogen increase vertebral height increase wrist mobility increased adiponectin level increased adipose tissue increased aldosterone production increased alkaline phosphatase increased alveolar volume increased aortic stiffness increased arm span increased basophil count increased biotinidase level increased bitemporal dimension increased bitemporal width increased bleeding time increased blood alanine increased blood gastrin increased blood lactate increased blood pressure increased body height increased body weight increased bone density increased bone fragility increased bone resorption increased bowel sounds increased calvarial thickness increased capillary permeability increased cardiac index increased cardiac output increased carrying angle increased cellular radiosensitivity increased cerebral lipofuscin increased cervical length increased cholesterol esters increased cholesteryl esters increased chromosomal breakage increased circulating isovalerate increased circulating lutropin increased circulating progesterone increased circulating trypsinogen increased connective tissue increased corneal curvature increased corneal diameter increased corneal thickness increased cortisol production increased cotinine level increased creatine kinase increased creatine phosphokinase increased csf glucose increased csf lactate increased csf protein increased dermatoglyphic whorls increased diffusing capacity increased estradiol level increased faecal porphyrin increased fat tissue increased fecal porphyrin increased female libido increased femoral torsion increased fetal movement increased fibular diameter increased foetal movement increased follicular density increased fracture rate increased gamma globulin increased genital pigmentation increased glucagon level increased haemoglobin a2 increased haemoglobin concentration increased haemoglobin f increased hair density increased hb concentration increased hba1c levels increased hba2 haemoglobin increased hba2 hemoglobin increased hdl2a concentration increased hdl2b concentration increased hdl3a concentration increased hdl3b concentration increased hdl3c concentration increased head circumference increased heart rate increased heart size increased hemoglobin a2 increased hemoglobin concentration increased hemoglobin f increased hepatic echogenicity increased igd level increased igg level increased igm levels increased im fat increased immunoglobulin level increased immunoreactive trypsinogen increased incisura length increased incisura width increased inflammatory response increased intercanthal distance increased interpupillary distance increased intervertebral space increased intraabdominal fat increased intracellular sodium increased intracranial pressure increased intramuscular fat increased intraocular pressure increased joint mobility increased ldl cholesterol increased ldlc concentration increased linear growth increased liver enzymes increased lumbar lordosis increased lymphocyte apoptosis increased male libido increased megakaryocyte count increased micromegakaryocyte count increased mitochondrial number increased muscle fatiguability increased muscle tone increased nail curvature increased nasal breadth increased nasal height increased nasal length increased nasal size increased nasal width increased neutrophil mitochondria increased neutrophil ribosomes increased nipple number increased nuchal translucency increased oocyte death increased palatal height increased peripheral myelination increased pineal volume increased placental thickness increased plasma acth increased plasma amh increased plasma ca125 increased plasma cea increased plasma ferritin increased plasma renin increased plasma triglycerides increased platelet count increased prps1 activity increased purine level increased purine levels increased qrs voltage increased rbc count increased rbc mass increased reticulocyte count increased retinal vascularity increased ros production increased rouleaux formation increased sarcoplasmic glycogen increased scrotal rugation increased serum alanine increased serum androstenedione increased serum calcitriol increased serum ck increased serum creatinine increased serum estradiol increased serum estriol increased serum estrone increased serum ft3 increased serum iga increased serum igd increased serum igf1 increased serum iron increased serum lactate increased serum leptin increased serum oestradiol increased serum pyruvate increased serum renin increased serum serotonin increased serum triglycerides increased serum zinc increased skin pigmentation increased skull ossification increased spleen size increased sputum production increased startle response increased stomach size increased tear production increased thigh size increased thyrotropin level increased tooth count increased total bilirubin increased total cholesterol increased urinary alanine increased urinary chloride increased urinary epinephrine increased urinary glycerol increased urinary hypoxanthine increased urinary k increased urinary mucus increased urinary ngal increased urinary orosomucoid increased urinary polyhexose increased urinary porphobilinogen increased urinary potassium increased urinary sedoheptulose increased urinary sialyloligosaccharides increased urinary sodium increased urinary sulfate increased urinary sulfite increased urinary sulphate increased urinary taurine increased urinary thiosulfate increased urinary urate increased urinary xanthine increased urine lactate increased urine output increased urine urobilinogen increased vertebral height increased wrist mobility indentation of chin indeterminate ventricular axis induced vaginal delivery ineffective esophageal motility ineffective esophageal peristalsis infantile axial hypotonia infantile constant esotropia infantile constant exotropia infantile digital fibroma infantile digital fibromatosis infantile muscular hypotonia infantile respiratory distress infantile xanthomatous cardiomyopathy infection , recurrent infection associate neutropenia infection associated neutropenia infections , recurrent inferior chorioretinal coloboma inferior lens subluxation inferior mediastinal mass inferior oblique palsy inferior retinal coloboma inferior subluxate lens inferior subluxated lens inferior vermis hypoplasia inferiorly position umbilicus inferiorly positioned umbilicus inflammation of artery inflammation of eyelid inflammation of eyelids inflammation of iris inflammation of testicle inflammation of testicles inflammatory bowel disease inflammatory cap polyp inflammatory skin disease infrequent bowel movement infrequent bowel movements inner ear abnormality inner ear tumor inner ear tumour insect bite allergy insulin resistant diabetes intercostal muscle weakness interdigital finger polydactyly interictal eeg abnormality interictal epileptiform activity interictal vestibular dysfunction interlobular septal thickening intermittent abdominal pain intermittent atrial fibrillation intermittent cerebellar ataxia intermittent lactic acidemia intermittent microsaccadic pursuit intermittent microsaccadic pursuits intermittent migraine headache intermittent migraine headaches intermittent yellow skin internally rotate shoulder internally rotated shoulders interosseous muscular atrophy interosseus muscle atrophy interphalangeal joint erosion interphalangeal joint erosions interrupt aortic arch interrupted aortic arch interstitial cardiac fibrosis interstitial lung disease interstitial pulmonary disease intervertebral disc calcification intervertebral disc degeneration intervertebral disk calcification intervertebral space narrowing intolerance to frustration intolerance to protein intra sutural bone intra sutural bones intraalveolar nodular calcification intraalveolar nodular calcifications intraalveolar phospholipid accumulation intracerebral periventricular calcification intracerebral periventricular calcifications intracranial arterial calcification intracranial cystic lesion intracranial dermoid cyst intracranial epidermoid cyst intracranial fusiform aneurysm intracranial neurenteric cyst intracranial pressure elevation intrahepatic biliary atresia intrahepatic biliary dysgenesis intrahepatic duct deficiency intralobar nephrogenic rest intralobar nephrogenic rests intralobular interstitial thickening intralobular septal thickening intramyocardial fat infiltration intranuclear cardiomyocyte mitochondria intranuclear cardiomyocyte mitochondrion intrathoracic cystic hygroma intratubular bilirubin cast intratubular bilirubin casts intratubular dihydroxyadenuria crystal intratubular dihydroxyadenuria crystals intratubular erythrocyte cast intratubular haemoglobin cast intratubular haemoglobin casts intratubular hemoglobin cast intratubular hemoglobin casts intratubular hyaline cast intratubular hyaline casts intratubular leukocyte cast intratubular leukocyte casts intratubular myoglobin cast intratubular vancomycin cast intratubular vancomycin casts intrauterine growth failure intrauterine growth restriction intrauterine growth retardation intraventricular arachnoid cyst introversion of eyelash introversion of eyelashes invasive dermatophyte infection invasive fungal infection invasive parasitic infection invasive pulmonary aspergillosis involuntary facial contraction involuntary facial quivering involuntary jerking movement involuntary jerking movements involuntary muscle contraction involuntary muscle contractions involuntary writhing movement involuntary writhing movements inward turn thumb inward turned thumb iodine contrast allergy iris brushfield spot iris brushfield spots iris pigment dispersion iris stromal hypoplasia iris transillumination defect iron deficiency anaemia iron deficiency anemia irregular acetabular roof irregular carpal bone irregular carpal bones irregular chondrocostal junction irregular chondrocostal junctions irregular costochondral margin irregular costochondral margins irregular dental spacing irregular end plate irregular end plates irregular femoral epiphysis irregular finger bone irregular finger bones irregular heart beat irregular humeral epiphyses irregular humeral epiphysis irregular humeral metaphyses irregular iliac crest irregular myelin folding irregular myelin foldings irregular myelin loop irregular myelin loops irregular patellar contour irregular patellar margin irregular patellar margins irregular radial epiphyses irregular radial epiphysis irregular radial metaphysis irregular respiratory rhythm irregular sclerotic endplate irregular sclerotic endplates irregular tarsal bone irregular tarsal bones irregular tarsal center irregular tarsal centers irregular tarsal centre irregular tarsal centres irregular tarsal ossification irregular thumb epiphysis irregular ulnar metaphysis irregular vertebral endplate irregular vertebral endplates irregular vertebral plate irregular vertebral plates irregular wrist bone irregular wrist bones irregularly space teeth irregularly spaced teeth irreversible airflow obstruction irreversible pulmonary obstruction ischaemic bone necrosis ischemic bone necrosis isolate diastolic hypotension isolate systolic hypertension isolated cardiac lipidosis isolated diastolic hypotension isolated hypogonadotropic hypogonadism isolated systolic hypertension isosexual precocious puberty ivory spinal bone jacksonian status epilepticus jamais vu aura jaundice , neonatal jaw joint crepitus jaw joint noise jaw joint sound jaw joint sounds jejunal arteriovenous malformation jerk head movement jerking head movements jerky head movement jerky head movements jerky smooth pursuit joint ligamentous laxity junctional ectopic tachycardia juvenile aseptic necrosis juvenile colonic polyposis juvenile diabetes mellitus juvenile gastrointestinal polyposis juvenile gi polyposis juvenile idiopathic arthritis juvenile myelomonocytic leukaemia juvenile myelomonocytic leukemia juvenile nasopharyngeal angiofibroma juvenile rheumatoid arthritis juxtafoveal choroidal neovascularization kabuki syndrome eyelid kabuki syndrome eyelids kahler 's disease kaposi 's sarcoma keratocystic odontogenic tumor keratocystic odontogenic tumour ketoacidosis , episodic kidney ca waste kidney ca wasting kidney ca2+ waste kidney ca2+ wasting kidney calcium wasting kidney chloride waste kidney chloride wasting kidney cortical adenoma kidney function issue kidney sodium wasting kidney structure issue kienboeck 's disease kienböck 's disease kink brain stem kinked brain stem kinky hair texture knee flexion contracture knee flexion contractures knee flexion deformity knee joint hypermobility koenen 's tumor koenen 's tumour kojevnikov 's epilepsia kozhevnikov 's epilepsia l - transposition labia minora hypertrophy labial melanotic freckle labial melanotic macule lack in initiative lack of concentration lack of eyebrow lack of initiative lack of insight lack of motivation lack of speech lack of sweat lack of sweating lacking in initiative lacrimal duct aplasia lacrimal duct atresia lacrimal duct obstruction lacrimal duct stenosis lacrimal gland aplasia lacrimal gland hypoplasia lacrimal pump failure lacrimal puncta aplasia lacrimal punctal atresia lacrimal punctum stenosis lacunar retinal depigmentation ladder nail sign lambdoid suture craniosynostosis lambdoid suture synostosis lamellar pulverulent cataract language development deficit large ankle bone large ankle bones large anterior fontanel large anterior fontanelle large anterior fontanels large basal ganglia large basal ganglion large beak nose large beaked nose large bregma suture large bregma sutures large capitate bone large carpal bone large carpal bones large cisterna magna large corpus callosum large cranial suture large dolichocephalic skull large facial muscle large facial muscles large fleshy ear large fleshy ears large foramen magnum large frontal sinus large hamate bone large head circumference large humeral epiphyses large humeral epiphysis large hypophysial fossa large iliac wing large iliac wings large intestinal atresia large intestinal polyposis large intestine tumor large intestine tumour large joint dislocation large joint dislocations large low jaw large lower jaw large nasal tip large neck muscle large neck muscles large oral aperture large pelvis bone large pituitary fossa large posterior fontanel large posterior fontanelle large radial epiphyses large radial epiphysis large sella turcica large tarsal bone large tarsal bones large unciform bone large upper jaw large vessel vasculitis large wrist bone large wrist bones laryngeal cartilage malformation laryngotracheoesophageal cleft i late closing fontanelle late closing fontanelles late inspiratory crackle late inspiratory crackles late sleep onset late systolic murmur late tooth eruption lateral clavicle hook lateral facial cleft lateral femoral bowing lateral spinal meningocele lateral venous anomaly lateral ventricle dilatation laterally curve eyebrow laterally curved eyebrow laterally elongate eyebrow laterally elongated eyebrow laterally extend eyebrow laterally extended eyebrow laterally extended eyebrows laterally sparse eyebrow laterally sparse eyebrows lattice corneal dystrophy lattice retinal degeneration lax abdominal musculature leave anterior hemiblock leave atrial enlargement leave atrial isomerism leave axis deviation leave diaphragmatic hernia leave posterior hemiblock leave unicoronal synostosis leave unilambdoid synostosis leave ventricular abnormality leave ventricular dysfunction leave ventricular failure leave ventricular hypertrophy leave ventricular hypoplasia leave ventricular impairment leave ventricular noncompaction leber optic atrophy leber optic degeneration left anterior hemiblock left atrial enlargement left atrial isomerism left atrium hypoplasia left axis deviation left diaphragmatic hernia left posterior hemiblock left unicoronal synostosis left unilambdoid synostosis left ventricular abnormality left ventricular dysfunction left ventricular failure left ventricular hypertrophy left ventricular hypoplasia left ventricular impairment left ventricular noncompaction leg length discrepancy leg muscle stiffness lentigo maligna melanoma lesion of mouth less trochanter hypoplasia lesser trochanter hypoplasia lester 's sign lethal micromelic dwarfism lethal skeletal dysplasia leukocyte inclusion bodies leukocyte inclusion body leukocyte migration defect leukoencephalopathy , progressive lewy body disease leydig cell neoplasia lhermitte 's phenomenon lhermitte 's sign lichenoid skin lesion light color hair light colored hair light colour hair light coloured hair light eye color light eye colour light induce retinopathy light induced retinopathy limb girdle weakness limb joint contracture limb muscle weakness limited ankle dorsiflexion limited armpit hair limited body hair limited cervical flexion limited elbow extension limited elbow flexion limited elbow mobility limited elbow movement limited extraocular movement limited extraocular movements limited forearm extension limited head rotation limited hip abduction limited hip extension limited hip movement limited interphalangeal movement limited jaw mobility limited jaw movement limited jaw opening limited joint mobility limited joint motion limited knee extension limited knee flexion limited knee movement limited mandibular mobility limited mandibular opening limited mouth opening limited neck extension limited neck flexibility limited neck flexion limited neck mobility limited neck movement limited peripheral vision limited shoulder abduction limited shoulder flexion limited shoulder movement limited wrist extension limited wrist movement linear earlobe crease linear nevus sebaceous linear retina heme lingual erythema migrans lipodystrophy , generalise lipodystrophy , generalised lipodystrophy , generalize lipodystrophy , generalized lipoma of eyelid lipomas of eyelids lissencephaly type ii lissencephaly type iii little body hair little cranial suture little cranial sutures little foramen magnum little low jaw little lower jaw little underarm hair liver arteriovenous malformation liver cell adenoma liver copper accumulation liver vascular malformation liver vascular malformations lobe , uplift lobe , uplifted lobster claw hand local myoclonic seizure local myoclonic seizures local tonic seizure local tonic seizures localise atonic seizure localise clonic seizure localise dyscognitive seizure localise epidermolytic hyperkeratosis localise gum disease localise hyperkinetic seizure localise hypotonic seizure localise motor seizure localise myoclonic seizure localise periodontal disease localise pulmonary haemorrhage localise skin lesion localise tonic seizure localised atonic seizure localised clonic seizure localised dyscognitive seizure localised epidermolytic hyperkeratosis localised gum disease localised hyperkinetic seizure localised hypotonic seizure localised motor seizure localised motor seizures localised myoclonic seizure localised periodontal disease localised pulmonary haemorrhage localised skin lesion localised tonic seizure localize atonic seizure localize clonic seizure localize dyscognitive seizure localize epidermolytic hyperkeratosis localize gum disease localize hyperkinetic seizure localize hypotonic seizure localize motor seizure localize myoclonic seizure localize periodontal disease localize pulmonary hemorrhage localize skin lesion localize tonic seizure localized atonic seizure localized clonic seizure localized dyscognitive seizure localized epidermolytic hyperkeratosis localized gum disease localized hyperkinetic seizure localized hypotonic seizure localized motor seizure localized motor seizures localized myoclonic seizure localized periodontal disease localized pulmonary hemorrhage localized skin lesion localized tonic seizure long - sightedness long big toe long bone shortening long bone slender long bones slender long calf bone long cerebellar peduncle long cerebellar peduncles long dental root long femoral neck long finger bone long low eyelash long lower eyelashes long nasal bridge long palatine uvula long palpebral fissure long palpebral fissures long qt syndrome long rib cage long second metacarpal long slender finger long slender fingers long tract sign long tract signs long umbilical cord long upper eyelash long upper eyelashes long upper lip longitudinal vaginal septum longitudinally groove fingernail longitudinally grooved fingernails loose - jointedness loose anagen hair loose redundant skin loss of appetite loss of consciousness loss of eyebrow loss of eyebrows loss of eyelash loss of eyelashes loss of eyesight loss of smell loss of speech loss of teeth loss of vision loss of voice loss of weight loss of word loss of words low alkaline phosphatase low anterior hairline low apgar score low back pain low birth weight low blood albumin low blood phenylalanine low blood pressure low blood sugar low body weight low calcium seizure low calcium seizures low chest circumference low csf albumin low exercise endurance low extremity akinesia low extremity fracture low extremity hypokinesia low extremity weakness low eyelid coloboma low eyelid edema low eyelid laxity low eyelid oedema low eyelid retraction low ferritin level low fibrinogen activity low fibrinogen level low frontal hairline low frustration tolerance low hang columella low hanging columella low intestinal alp low intraocular pressure low jaw deficiency low jaw excess low jaw hyperplasia low jaw hypoplasia low jaw pain low jaw retrognathia low jaw retrusion low labial cleft low leg amyotrophy low leg swell low lid coloboma low limb amyotrophy low limb asymmetry low limb atrophy low limb deformity low limb degeneration low limb dysmetria low limb fracture low limb hyperreflexia low limb hypertonia low limb pain low limb peromelia low limb phocomelia low limb spasticity low limb undergrowth low limb weakness low lip pit low lymphocyte number low muscle tone low nasal bridge low nasal root low neutrophil count low parathyroid hormone low placental alp low plasma citrulline low platelet count low posterior hairline low pulse pressure low self esteem low serum calcidiol low serum calcifediol low serum calcitriol low serum iron low set ear low set ears low set umbilicus low sperm count low thoracic kyphosis low voltage eeg lower back pain lower extremity akinesia lower extremity fracture lower extremity hypokinesia lower extremity weakness lower eyelid coloboma lower eyelid edema lower eyelid laxity lower eyelid oedema lower eyelid retraction lower jaw deficiency lower jaw excess lower jaw hyperplasia lower jaw hypoplasia lower jaw pain lower jaw retrognathia lower jaw retrusion lower labial cleft lower leg amyotrophy lower leg swelling lower lid coloboma lower limb amyotrophy lower limb asymmetry lower limb atrophy lower limb deformities lower limb degeneration lower limb dysmetria lower limb fracture lower limb hyperreflexia lower limb hypertonia lower limb pain lower limb peromelia lower limb phocomelia lower limb spasticity lower limb undergrowth lower limb weakness lower lip pit lower thoracic kyphosis lumbar gibbus deformity lumbar interpedicular narrowing lumbar spinal stenosis lung carcinoid tumor lung carcinoid tumour lung fungus ball lung segmentation defect lung segmentation defects lymph node abscess lymph node hyperplasia lymph node hypoplasia lymphatic vessel neoplasm lymphatic vessel tumor lymphatic vessel tumour lymphocytic interstitial pneumonia lymphocytic interstitial pneumonitis lymphoid interstitial pneumonia lymphoid interstitial pneumonitis lymphoid nodular hyperplasia macrocephalic sperm head macrocephaly , postnatal macrocephaly , progressive macrocephaly , relative macrocephaly at birth macrocytic dyserythropoietic anaemia macrocytic dyserythropoietic anemia macrocytic hemolytic disease macrodactyly of finger macrodactyly of hand macrodactyly of hands macrodactyly of toe macronodular adrenal hyperplasia macroorchidism , postpubertal macrosomia , neonatal macrovesicular hepatic steatosis macular hyperpigmented dermopathy macular pigmentary change macular pigmentary changes madelung wrist deformity majocchi 's granuloma malabsorption of cyanocobalamin malaligned carpal bone malaligned philtral column malaligned philtral columns malaligned philtral ridge malaligned philtral ridges male pattern baldness male precocious puberty male sexual dysfunction malformation of auricle malformation of face malformation of lip malformation of teeth malformed external ear malformed external ears malformed lacrimal duct malformed tear duct malformed tear ducts malignant eosinophil proliferation malocclusion of teeth malposition of incisor malposition of incisors malposition of teeth malrotation of colon mammary gland aplasia mandibular condyle aplasia mandibular condyle hypoplasia marble bone disease marcus gunn pupil marfanoid body habitus marginal cord insertion marginal corneal dystrophy mark muscular hypertrophy mark vision impairment marked growth retardation marked muscular hypertrophy marked vision impairment masseter muscle atrophy masseter muscular weakness maternal autoimmune disease maternal health problem maternal teratogenic exposure meat allergen allergy medial arterial calcification medially deviate hallux medially deviated halluces median cleft lip median cleft palate median nail dystrophy median supernumary tooth mediastinal cystic lymphangioma medullar adrenal neoplasia medullary cavity obliteration medullary cystic disease medullary peritubular capillaritis medullary thyroid cancer medullary thyroid carcinoma mega cisterna magna megakaryocyte nucleus hyperlobulation megakaryocyte nucleus hypolobulation megaloblastic bone marrow megaloblastic erythroid hyperplasia meibomian gland disease meibomian gland dysfunction meibomian gland lipogranuloma membranous choanal atresia membranous lupus nephritis membranous vitreous appearance membranous vitreous phenotype mental - retardation mesangial amyloid deposition mesangial cell loss mesangial fibril deposition mesangial fibrillary deposit mesangial fibrillary deposits mesangial hyaline deposition mesangial immunotactoid deposit mesangial immunotactoid deposits mesangial matrix expansion mesangial microfibril deposition mesenteric artery aneurysm mesenteric venous thrombosis mesial temporal sclerosis mesoaxial foot polydactyly mesoaxial hand polydactyly mesomelic arm shortening mesomelic leg shorten mesomelic leg shortening mesomelic limb shorten mesomelic limb shortening mesomelic short stature metacarpal periosteal thicken metacarpal periosteal thickening metacarpophalangeal joint contracture metacarpophalangeal joint hyperextensibility metachromatic leukodystrophy variant metaphyseal corner fracture metatarsal periosteal thicken metatarsal periosteal thickening methionine synthase deficiency metopic suture craniosynostosis microangiopathic hemolytic anaemia microangiopathic hemolytic anemia microcephalic sperm head microcephaly , acquire microcephaly , acquired microcephaly , postnatal microcephaly , progressive microphthalmia , bilateral microtropia with identity microtropia without identity microvesicular hepatic steatosis middle ear abnormalities middle ear abnormality middle ear infection middle ear malformation middle ear tumor middle ear tumour middle mediastinal mass midface , flat midface capillary hemangioma midfacial capillary hemangioma midfrontal capillary hemangioma midline brain calcification midline brain calcifications midline brainstem cleft midline cleft lip midline cleft palate midline cns lipoma midline cns lipomas midline facial cleft midline nasal defect midline nasal groove midline supernumary tooth midline supraumbilical raphe migraine with aura migraine without aura migrate focal seizure migrate partial seizure migrating focal seizure migrating partial seizure migrational brain disorder migratory erythematous plaque mild fetal hydronephrosis mild fetal ventriculomegaly mild foetal hydronephrosis mild foetal ventriculomegaly mild growth deficiency mild hearing impairment mild mental retardation mild short stature mild vision loss mild visual loss mildly elevate cpk mildly elevated cpk minimal change disease minimal change glomerulonephritis minimal change nephropathy minimal subcutaneous fat minor feet anomalies minor foot anomaly mirror hand movement mirror hand movements mirror image polydactyly misalignment of incisor misalignment of incisors misalignment of teeth miss a tooth miss adult molar miss adult teeth miss all teeth miss big toe miss central incisor miss cervical vertebra miss ethmoid sinus miss eye muscle miss eye tooth miss facial bone miss fifth toenail miss front tooth miss frontal sinus miss lateral incisor miss low incisor miss low jaw miss low premolar miss mandibular premolar miss maxillary premolar miss middle phalanx miss nasal bone miss nasal bridge miss nasal cartilage miss one kidney miss paranasal sinus miss parotid duct miss permanent molar miss portal vein miss pulmonary artery miss scalp hair miss scaphoid bone miss septum pellucidum miss some teeth miss stensen duct miss tooth root miss upper bicuspid miss upper incisor miss upper premolar miss wrist bone missed heart beat missing a tooth missing adult molar missing adult teeth missing all teeth missing big toe missing central incisors missing cervical vertebrae missing ethmoid sinuses missing eye muscles missing eye tooth missing facial bones missing fifth toenail missing front tooth missing frontal sinus missing lateral incisor missing lower incisor missing lower jaw missing lower premolar missing mandibular premolar missing maxillary premolar missing middle phalanges missing nasal bone missing nasal bridge missing nasal cartilage missing one kidney missing paranasal sinuses missing parotid duct missing permanent molar missing portal vein missing pulmonary artery missing scalp hair missing scaphoid bone missing septum pellucidum missing some teeth missing stensen duct missing tooth root missing upper bicuspid missing upper incisor missing upper premolar missing wrist bone mitochondrial pcc defect mitral annular calcification mitral valve arcade mitral valve atresia mitral valve calcification mitral valve insufficiency mitral valve prolapse mitral valve regurgitation mitral valve stenosis mixed gonadal dysgenesis mixed hearing impairment mixed hearing loss moderate generalise osteoporosis moderate generalised osteoporosis moderate generalize osteoporosis moderate generalized osteoporosis moderate hearing impairment moderate mental deficiency moderate mental retardation moderate neural deafness moderate short stature moderate vision loss moderate visual impairment moderate visual loss moderately short stature molar incisor malformation molar tooth sign molarization of bicuspid molarization of premolar molybdenum cofactor deficiency mongolian blue spot monocular horizontal nystagmus monomorphic ventricular tachycardia monomorphic vesicular eruption monostotic fibrous dysplasia morgagni diaphragmatic hernia morning glory anomaly morning myoclonic jerk morning myoclonic jerks mosaic corneal dystrophy motheaten muscle fiber motheaten muscle fibers motheaten muscle fibre motheaten muscle fibres motor axonal neuropathy motor conduction block motor developmental delay motor neuron atrophy motor neuron degeneration mottle skin color mottle skin colour mottle tooth enamel mottled skin coloring mottled skin colouring mottled tooth enamel mucinous colorectal carcinoma mucinous gastric carcinoma multicystic dysplastic kidney multicystic kidney dysplasia multicystic renal dysplasia multifocal atrial tachycardia multifocal breast cancer multifocal breast carcinoma multifocal eeg abnormality multifocal epileptiform discharge multifocal epileptiform discharges multifocal onset seizure multifocal onset seizures multifocal splenic abscess multifocal subretinal deposit multifocal subretinal deposits multilocular splenic abscess multiple accessory spleen multiple accessory spleens multiple bilateral chrpe multiple bilateral pneumothoraces multiple biliary hamartoma multiple biliary hamartomas multiple bladder diverticula multiple bladder diverticulum multiple buried teeth multiple bury teeth multiple chromosomal break multiple chromosomal breaks multiple congenital contracture multiple congenital contractures multiple cutaneous leiomyoma multiple cutaneous leiomyomas multiple cutaneous malignancies multiple cutaneous malignancy multiple digital exostoses multiple digital exostosis multiple duodenal polyp multiple duodenal polyps multiple epiphyseal dysplasia multiple fatty lump multiple fatty lumps multiple gastric polyp multiple gastric polyps multiple glomerular cyst multiple glomerular cysts multiple impacted teeth multiple intestinal neurofibromatosis multiple intestinal polyp multiple intestinal polyps multiple joint contracture multiple joint contractures multiple joint dislocation multiple joint dislocations multiple kidney cyst multiple kidney cysts multiple lineage myelodysplasia multiple lung cyst multiple lung cysts multiple mtdna deletion multiple mtdna deletions multiple mucosal neuroma multiple mucosal neuromas multiple oral frenula multiple palm line multiple palm lines multiple palmar crease multiple palmar creases multiple pancreatic cyst multiple pancreatic cysts multiple pigment nevus multiple pigmented nevi multiple plantar crease multiple plantar creases multiple prenatal fracture multiple prenatal fractures multiple pulmonary cyst multiple pulmonary cysts multiple pulmonary infection multiple pulmonary infections multiple rectal polyp multiple rectal polyps multiple renal cyst multiple renal cysts multiple respiratory infection multiple respiratory infections multiple retain teeth multiple retained teeth multiple rib fracture multiple rib fractures multiple shoulder dislocation multiple skeletal anomalies multiple skeletal anomaly multiple small spleen multiple small spleens multiple spontaneous fracture multiple spontaneous fractures multiple suture craniosynostosis multiple unerupted teeth multiple vertebral anomalies multiple vertebral anomaly muscle fiber atrophy muscle fiber degeneration muscle fiber hypertrophy muscle fiber necrosis muscle fiber splitting muscle fibre atrophy muscle fibre degeneration muscle fibre hypertrophy muscle fibre necrosis muscle fibre splitting muscle tissue disease muscular cardiac diverticulum muscular subaortic stenosis muscularis propria malformation myelodysplasia with sideroblastosis myeloid maturation arrest myerson 's sign myocardial eosinophilic infiltration myocardial fiber disarray myocardial fibre disarray myocardial granulomatous infiltrates myocardial lymphocytic infiltration myocardial sarcomere disarray myocardial sarcomeric disarray myoclonic absence seizure myoclonic atonic seizure myoclonic atonic seizures myoclonic status epilepticus myoclonus of limb myoclonus of limbs myocyte cellular hypertrophy myoglobinuria , episodic myoglobinuria , recurrent myopathic facial appearance myxoid subcutaneous tumor myxoid subcutaneous tumors myxoid subcutaneous tumour myxoid subcutaneous tumours naevus fuscoceruleus ophthalmomaxillaris nail - biting nail bed haemorrhage nail bed hemorrhage nail bed telangiectases nail bed telangiectasia nailfold capillary tortuosity nappy hair texture naris , broad naris , enlarge naris , enlarged naris , narrow narrow angle glaucoma narrow auditory canal narrow auditory canals narrow bitemporal diameter narrow bitemporal width narrow cranium shape narrow ear canal narrow eyelid opening narrow femoral neck narrow femoral necks narrow foramen magnum narrow foramen obturatorium narrow head shape narrow iliac wing narrow iliac wings narrow incisura width narrow interpedicular space narrow interpediculate distance narrow interpediculate distances narrow intervertebral space narrow intervertebral spaces narrow low face narrow low jaw narrow lower face narrow lower jaw narrow nasal base narrow nasal bridge narrow nasal dorsum narrow nasal ridge narrow nasal root narrow nasal septum narrow nasal tip narrow palatine uvula narrow palpebral fissure narrow palpebral fissures narrow pelvis bone narrow retinal arteriole narrow retinal arterioles narrow sacroiliac notch narrow sacrosciatic notch narrow sciatic notch narrow sciatic notches narrow skull shape narrow spinal canal narrowed sacrosciatic notch narrowing of aorta narrowing of windpipe nasal bone hypoplasia nasal bridge broad nasal cartilage hypoplasia nasal mucosa telangiectasia nasal septum perforation nasogastric tube feeding nasolacrimal duct atresia nasolacrimal duct obstruction nasolacrimal duct stenosis nasolacrimal sac granuloma nasolacrimal sac lymphoma nasolacrimal sac obstruction nasolacrimal sac papilloma nausea and vomiting neck flexion contracture neck flexion weakness neck flexor weakness neck muscle hypertrophy neck muscle hypoplasia neck muscle issue neck muscle weakness necrolytic migratory erythema necrotizing pulmonary granulomatosis neonatal alloimmune thrombocytopenia neonatal breathing dysregulation neonatal epileptic spasm neonatal epiphyseal stipple neonatal epiphyseal stippling neonatal hemolytic anaemia neonatal hemolytic anemia neonatal inspiratory stridor neonatal intestinal obstruction neonatal respiratory distress neonatal unconjugated hyperbilirubinemia neoplasm by histology nephritis , tubulointerstitial nephrogenic diabetes insipidus nephrotic range proteinuria nerve conduction abnormalities nerve conduction abnormality nervous system cancer nervous tissue neoplasm neural tube defect neurogenic muscle atrophy neurogenic muscular atrophy neurogenic scapuloperoneal syndrome neurohypophyseal diabetes insipidus neurological speech impairment neuronal migration disorder neutrophil antibody positive neutrophil inclusion bodies neutrophil inclusion body neutrophil migratory defect neutrophil nuclear cleft neutrophil nuclear clefts neutrophilic urticarial dermatosis nevus flammeus nucha nevus flammeus nuchae nevus fuscoceruleus ophthalmomaxillaris nevus of ota newborn gammaglobulin deficiency newborn respiratory distress niddm diabetes mellitus night - blindness nikolsky 's sign no adult dentition no permanent dentition no secondary dentition no social interaction no speech development nocturnal slow breathing nocturnal under breathe nocturnal under breathing nodular corneal dystrophy nodular inflammatory vasculitis non - ambulatory nonarteriosclerotic cerebral calcification nonbullous congenital ichthyosis noncancerous fatty lump nonconvulsive status epilepticus nonepidermolytic palmoplantar hyperkeratosis nonepidermolytic palmoplantar keratoderma nonimmune hydrops fetalis noninflammatory retina disease nonmedullary thyroid carcinoma nonopposable triphalangeal thumb nonossified fifth metatarsal nonprogressive cerebellar ataxia nonprogressive intellectual disability nonprogressive mental retardation nonprogressive muscular atrophy nonprogressive visual loss nonspecific chronic villitis nonspecific interstitial pneumonia nonspecific interstitial pneumonitis nonspherocytic hemolytic anaemia nonspherocytic hemolytic anemia normal interictal eeg normal pressure hydrocephalus normochromic microcytic anaemia normochromic microcytic anemia normocytic hypoplastic anaemia normocytic hypoplastic anemia notch low eyelid notch nasal ala notch nasal tip notch p wave notch thumb bone notch upper eyelid notched hand bone notched hand bones notched lower eyelid notched nasal alae notched nasal tip notched p wave notched thumb bone notched upper eyelid nuclear pulverulent cataract nuclear punctate cataract numerous pigment freckle numerous pigmented freckles nystagmus , congenital nystagmus , horizontal nystagmus , pendular obesity grade 1 obesity grade 2 obesity grade 3 obliterative portal venopathy obsessive compulsive behavior obsessive compulsive behaviour obsessive compulsive disorder obstruct carotid artery obstructed carotid artery obstruction of nose obstructive lung disease obstructive sleep apnea obstructive sleep apnoea occipital cortical atrophy occlusive arterial disease occlusive vascular disease occult macular dystrophy occult spinal dysraphism ocular motor apraxia ocular movement abnormalities ocular movement abnormality oculoclonic status epilepticus oculomotor nerve palsy olfactory bulb aplasia olfactory lobe absence olfactory lobe agenesis oligodactyly of feet oligodactyly of foot one underdevelop breast one underdeveloped breast onion bulb formation onion bulb formations onychogryposis of fingernail onychogryposis of toenail onychogryposis of toenails onycholysis of fingernail onycholysis of fingernails onycholysis of toenail onycholysis of toenails open angle glaucoma open cranial suture open cranial sutures open mouth appearance open skin sore open tuba eustachii ophthalmic artery anomaly ophthalmic artery occlusion opportunistic bacterial infection opportunistic fungal infection opportunistic viral infection opposable triphalangeal thumb oppositional defiant disorder optic disc coloboma optic disc drusen optic disc hypoplasia optic disc pallor optic disk coloboma optic disk pallor optic nerve abnormalities optic nerve abnormality optic nerve aplasia optic nerve atrophy optic nerve coloboma optic nerve compression optic nerve dysplasia optic nerve glioma optic nerve hypoplasia optic nerve issue optic nerve misrouting optic pathway misrouting optically empty vitreous oral cavity bleeding oral cavity haemorrhage oral cavity hemorrhage oral cavity telangiectasia oral cavity teleangiectasia oral fibrous band oral fibrous bands oral hairy leukoplakia oral idiopathic keratosis oral idiopathic leukoplakia oral lichenoid lesion oral melanotic macule oral motor hypotonia oral mucosa blister oral mucosa blisters oral mucosa nodule oral mucosal blister oral mucosal blisters oral mucosal ulceration oral pharyngeal dysphagia oral racial pigmentation oral white patch oral white plaque orange color tonsil orange colored tonsils orange colour tonsil orange coloured tonsils orange discolor tonsil orange discolored tonsils orange discolour tonsil orange discoloured tonsils oropharyngeal squamous papilloma orotic acid crystalluria orthotopic o odontoideum orthotopic os odontoideum osgood schlatter disease osseous finger syndactyly ossification of pinna ossification of pinnae osteoarthritis of hip osteolysis of patella osteolysis of patellae osteolysis of scaphoids osteolysis of tali osteolysis of talus osteoporosis of vertebra osteoporosis of vertebrae osteoporotic forearm bone osteoporotic forearm bones osteosclerosis of bone osteosclerosis of bones osteosclerosis of rib osteosclerosis of ribs outer ear abnormality outer ear tumor outer ear tumour outward turn elbow outward turn lip outward turned elbows outward turned lips oval facial shape oval vertebral bodies oval vertebral body ovarian cystic abnormality ovarian dermoid cyst ovarian epithelial cancer ovarian mucinous tumor ovarian mucinous tumour ovarian papillary adenocarcinoma ovarian serous cystadenoma overactive bladder syndrome overactive knee reflex overcrowding of teeth overgrowth of skullcap overhang nasal tip overhanging nasal tip overlap maxillary incisor overlapped maxillary incisors overmodelled hand bone overmodelled hand bones override aortic valve override atrioventricular valve overriding aortic valve overriding atrioventricular valve overtubulated long bone overtubulated long bones ovoid thoracolumbar vertebra ovoid thoracolumbar vertebrae ovoid vertebral bodies ovoid vertebral body p wave inversion pain in extremities pain in extremity pain in stomach pain in testicle pain in testicles painful subcutaneous lipoma painful subcutaneous lipomas paired helical filament paired helical filaments palatal spider vein palatal spider veins pale optic disc pale optic discs pale optic disk palm tree sign palmar grasp reflex palmoplantar cutis gyrata palmoplantar cutis laxa palmoplantar scale skin palmoplantar scaling skin pancreatic endocrine tumor pancreatic endocrine tumour pancreatic fatty infiltration pancreatic fatty replacement pancreatic lipomatous pseudohypertrophy pancreatitis , acute papillary thyroid carcinoma parachute mitral valve paramedian cleft palate paramedian facial cleft paramedian labial pit paramedian labial pits paramedian lip pit paranasal sinus hypoplasia paranasal sinus neoplasm paraplegia / paraparesis paraspinal muscle hypertrophy paratracheal air cyst paravenous chorioretinal atrophy parietal cortical atrophy paroxysmal atrial fibrillation paroxysmal atrial tachycardia paroxysmal nocturnal haemoglobinuria paroxysmal nocturnal hemoglobinuria paroxysmal rectal pain paroxysmal supraventricular tachycardia paroxysmal tonic upgaze paroxysmal ventricular tachycardia partial atonic seizure partial auditory seizure partial clonic seizure partial cognitive seizure partial double eyebrow partial dyscognitive seizure partial emotional seizure partial gustatory seizure partial hip dislocation partial hyperkinetic seizure partial hypokinetic seizure partial hypotonic seizure partial iga deficiency partial knuckle dislocation partial laryngeal atresia partial motor seizure partial motor seizures partial myoclonic seizure partial myoclonic seizures partial olfactory seizure partial sacral agenesis partial sensory seizure partial shoulder dislocation partial somatosensory seizure partial tonic seizure partial tonic seizures partial vaginal septum partial vestibular seizure partial visual seizure partially accomodative esotropia partially dislocate lens partially dislocated lens partially duplicate kidney partially duplicate ureter partially duplicated kidney partially duplicated ureter patchy darken skin patchy darkened skin patchy lighten skin patchy lightened skin patchy palmoplantar hyperkeratosis patchy palmoplantar keratoderma patent ductus arteriosus patent foramen ovale patent ostium secundum patent tuba eustachii pca - tr pectoralis major hypoplasia pectoralis minor aplasia pectus carinatum superiorly pectus excavatum inferiorly peg shape incisor peg shape teeth peg shape tooth peg shaped incisors peg shaped teeth peg shaped tooth pelvic arteriovenous malformation pelvic bone asymmetry pelvic bone exostoses pelvic bone exostosis pelvic floor myalgia pelvic girdle amyotrophy pelvic girdle weakness pelvic organ prolapse pelviureteric junction obstruction pendulous urethral stricture penetrate aortic ulcer penetrate foot ulcer penetrating aortic ulcer penetrating foot ulcers periapical bone loss periapical tooth abscess periarticular subcutaneous nodule periarticular subcutaneous nodules periauricular skin pit periauricular skin pits periauricular skin tag peribronchovascular interstitial thickening pericentral retinitis pigmentosa perifissural pulmonary nodule periglomerular fibrotic thickening perihilar glomerular hyalinosis perihilar segmental glomerulosclerosis perilobar nephrogenic rest perilobar nephrogenic rests perinephric fluid collection perinuclear cardiomyocyte vacuolization periocular capillary hemangioma periodic hyperkalemic paralysis periodic hypokalemic paresis perioral radial furrowing periorbital dermoid cyst peripapillary chorioretinal atrophy peripheral arterial calcification peripheral arterial stenosis peripheral arteriovenous fistula peripheral artery calcification peripheral artery disease peripheral axonal atrophy peripheral axonal degeneration peripheral axonal neuropathy peripheral blood clot peripheral corneal opacity peripheral cystoid degeneration peripheral lung neovascularity peripheral motor neuropathy peripheral nerve compression peripheral nerve damage peripheral nerve disease peripheral pulmonary stenosis peripheral pulmonic stenosis peripheral retinal atrophy peripheral retinal avascularization peripheral retinal degeneration peripheral retinal detachment peripheral retinal neovascularization peripheral sensory neuropathy peripheral vascular disease peripheral vitreoretinal degeneration peripheral vitreous opacities peripheral vitreous opacity perivascular cardiac fibrosis periventricular laminar heterotopia periventricular neuronal heterotopia periventricular nodular heterotopia periventricular ribbonlike heterotopia permanent atrial fibrillation peroneal muscle atrophy peroneal muscle weakness persistant truncus arteriosus persistence of fingerpads persistence of hbf persistent anterior fontanelle persistent arterial duct persistent cmv viremia persistent deciduous dentition persistent ductus arteriosus persistent ebv viremia persistent fetal circulation persistent fetal vasculature persistent foetal circulation persistent foetal vasculature persistent foramen ovale persistent head lag persistent hyaloid artery persistent lactic acidosis persistent primary dentition persistent primary teeth persistent pupillary membrane persistent stapedial artery persistent wide fontanel pervasive developmental disorder petit mal seizure petit mal seizures pharyngitis , recurrent phenylalanine hydroxylase deficiency pheochromocytoma , adrenal pheochromocytoma , extraadrenal pheochromocytomas , adrenal philtrum , deep philtrum , narrow philtrum , smooth philtrum , tent philtrum , tented phosphaturic mesenchymal tumor phosphohexose isomerase deficiency phospholipid antibody positivity photosensitive myoclonic seizure photosensitive skin rash photosensitive skin rashes pick inclusion bodies pick inclusion body pierre robin sequence piezogenic pedal papule piezogenic pedal papules pigment macular degeneration pigmentary retinal deposit pigmentary retinal deposits pigmentary skin change pigmentary skin changes pigmentation of eyelid pigmentation of eyelids pigmented macular degeneration pilosity of elbow pinch nasal bridge pinch nasal tip pinched nasal bridge pinched nasal tip pineal gland calcification pineal parenchymal tumor pineal parenchymal tumour pituitary gland atrophy pituitary gland cyst pituitary gonadotropin deficiency placental mesenchymal dysplasia placental thickness increase placental thickness increased placoid macular lesion plant product allergy plantar flexion contracture plantar flexion contractures plasma cortisol low platelet aggregation defect platelet antibody positive platyspondyly , extreme pleuritic chest pain plump lower lip plump upper lip pneumocystis jirovecii pneumonia pneumonia , recurrent podocyte cytoskeletal condensation podocyte microvillous transformation podocyte myelin figure podocyte myelin figures podocyte myelin inclusion podocyte myelin inclusions point front tooth point frontal hairline point hand bone point humeral metaphysis point mandibular incisor point maxillary incisor point mention region point primary incisor point proximal metacarpal point ulnar metaphysis pointed front tooth pointed frontal hairline pointed hand bones pointed humeral metaphysis pointed mandibular incisor pointed mandibular incisors pointed maxillary incisor pointed mention region pointed primary incisor pointed proximal metacarpals pointed ulnar metaphysis polycystic kidney disease polycystic kidney dysplasia polycystic liver disease polycystic ovary disease polydactyly , postaxial polydactyly , preaxial polydactyly of feet polydactyly of foot polygonal renal calices polymorphic ventricular tachycardia polymorphic vesicular eruption polymorphous light eruption polyostotic fibrous dysplasia polypoidal choroidal vasculopathy polys of nose polysyndactyly of hallux pontine ischaemic lacunes pontine ischemic lacunes pontine tegmental cap poor attention span poor bladder function poor exercise tolerance poor eye contact poor fingernail formation poor head control poor language development poor motor coordination poor nail formation poor night vision poor prothrombin consumption poor school performance poor social interaction poor social interactions poor speech acquisition poor speech development poor speech discrimination poor temperature regulation poor toenail formation poor visual acuity poor weight gain poor wind heal poor wound healing poorly define concha poorly defined conchae poorly develop lung poorly developed lungs poorly fold helix poorly folded helices poorly form metencephalon poorly formed metencephalon poorly functioning vein poorly functioning veins poorly mineralize skull poorly mineralized skull poorly ossified calvaria poorly ossified calvarium poorly ossified skull poorly ossified vertebrae poorly ossify calvaria poorly ossify calvarium poorly ossify skull poorly ossify vertebra popliteal synovial cyst portal vein thrombosis portosystemic collateral vein portosystemic collateral veins positional anterior plagiocephaly positional foot deformity positional frontal plagiocephaly positive babinski sign positive fecl3 test positive gower sign positive gowers sign positive pathergy test positive phalen test positive romberg sign postauricular fibroepithelial polyp postauricular skin tag postaxial foot polydactyly postaxial hand polydactyly postcapillary pulmonary hypertension postductal aortic coarctation posterior auricular pit posterior auricular sinus posterior capsular cataract posterior choanal atresia posterior cortical cataract posterior fossa anomaly posterior fossa cyst posterior helix pit posterior mediastinal mass posterior pharyngeal cleft posterior pituitary agenesis posterior pituitary dysgenesis posterior pituitary dysplasia posterior pituitary hypoplasia posterior polar cataract posterior retinal neovascularisation posterior retinal neovascularization posterior rib cup posterior rib cupping posterior rib fusion posterior rib gap posterior subcapsular cataract posterior subcapsular cataracts posterior urethral valve posterior urethral valves posterior vertebral hypoplasia posterior vitreous detachment posteriorly angulate ear posteriorly angulated ears posteriorly dislocate ulna posteriorly dislocated ulna posteriorly place anus posteriorly place tongue posteriorly placed anus posteriorly placed tongue posteriorly rotate auricle posteriorly rotate ear posteriorly rotated auricles posteriorly rotated ears posteriorly slop forehead posteriorly sloping forehead posterolateral diaphragmatic hernia postnatal cystic hygroma postnatal growth deceleration postnatal growth deficiency postnatal growth failure postnatal growth retardation posttraumatic stress symptom pr interval depression pr interval elevation pr segment depression pr segment elevation pre - eclampsia preauricular fibroepithelial polyp preauricular hair displacement preauricular skin furrow preauricular skin furrows preauricular skin groove preauricular skin sulcus preauricular skin tag preauricular skin tags preaxial foot polydactyly preaxial hallucal polydactyly preaxial hand polydactyly precapillary pulmonary hypertension precocious costochondral ossification precociously senile appearance predisposition to infection predisposition to infections preimplantation embryonic lethality prelingual sensorineural deafness premature age appearance premature aged appearance premature atrial contraction premature atrial contractions premature breast development premature chromatid separation premature dental eruption premature epimetaphyseal fusion premature fontanel closure premature hair gray premature hair graying premature hair grey premature hair greying premature ovarian failure premature ovarian insufficiency premature skin wrinkling premature sternal synostosis premature supraventricular beat premature supraventricular beats premature suture closure premature teeth loss premature tooth eruption premature tooth loss premature ventricular beat premature ventricular contraction premature ventricular contractions prematurely age appearance prematurely age face prematurely aged appearance prematurely aged face premaxillary bone deficiency premaxillary bone excess premaxillary bone retrusion prenatal growth deficiency prenatal growth failure prenatal growth retardation prenatal maternal abnormality prenatal movement abnormality presence of xenobiotic preterm intraventricular haemorrhage preterm intraventricular hemorrhage pretibial epidermolysis bullosa primary adrenal insufficiency primary adrenocortical failure primary atrial arrhythmia primary biliary cirrhosis primary caesarian section primary cns lymphoma primary congenital glaucoma primary gastric lymphoma primary generalise seizure primary generalised seizure primary generalize seizure primary generalized seizure primary gonadal insufficiency primary obstructive megaureter primary ovarian insufficiency primary peritoneal carcinoma primary pulmonary hypertension primary testicular failure primary vesicoureteral reflux primitive neuroectodermal tumor primitive neuroectodermal tumour problem pay attention problem paying attention procedural memory deficit procedural memory loss profound hear impairment profound hearing impairment profound mental retardation profound static encephalopathy progeroid facial appearance progressive brain disease progressive capillary hemangioma progressive cerebellar ataxia progressive clavicular acroosteolysis progressive cochlear degeneration progressive cognitive decline progressive conductive deafness progressive cone degeneration progressive cone dystrophy progressive congenital scoliosis progressive external ophthalmoplegia progressive extrapyramidal rigidity progressive flexion contracture progressive flexion contractures progressive forearm bowing progressive forearm curvature progressive gait ataxia progressive hearing impairment progressive hearing loss progressive inspiratory stridor progressive joint destruction progressive language deterioration progressive leg bowing progressive massive fibrosis progressive mental deterioration progressive mental retardation progressive muscle weakness progressive muscular weakness progressive neurodegenerative disorder progressive neurologic deterioration progressive night blindness progressive pe cavus progressive peripheral neuropathy progressive pes cavus progressive psychomotor deterioration progressive renal failure progressive renal insufficiency progressive respiratory failure progressive reticulate hyperpigmentation progressive spastic paraparesis progressive spastic paraplegia progressive spastic quadriparesis progressive spastic quadriplegia progressive systemic scleroderma progressive truncal ataxia progressive vision loss progressive visual impairment progressive visual loss prolapse of tongue prolong bleeding time prolong clotting time prolong prothrombin time prolonged bleeding time prolonged clotting time prolonged neonatal jaundice prolonged pr interval prolonged prothrombin time prolonged qrs complex prolonged qt interval prolonged qtc interval prolonged reptilase time prominence of cheekbone prominent belly button prominent costochondral junction prominent deltoid tuberosities prominent deltoid tuberosity prominent digit pad prominent ear helix prominent ear lobe prominent ear lobes prominent ear lobule prominent ear lobules prominent eye fold prominent eye folds prominent finger pad prominent finger pads prominent fingertip pad prominent fingertip pads prominent float rib prominent floating ribs prominent frontal ridge prominent frontal sinus prominent frontal sinuses prominent frontal suture prominent heel bone prominent hinge joint prominent hinge joints prominent interdigital fold prominent interdigital folds prominent interphalangeal joint prominent interphalangeal joints prominent laugh line prominent laugh lines prominent life line prominent low jaw prominent low lip prominent lower jaw prominent lower lip prominent lumbar lordosis prominent malar region prominent metopic ridge prominent metopic suture prominent midpalatal ridge prominent nasal bridge prominent nasal root prominent nasal septum prominent nasal tip prominent nasolabial fold prominent nasolabial groove prominent palatine fold prominent palatine folds prominent palatine ridge prominent palatine ridges prominent perineal raphe prominent posterior cranium prominent posterior head prominent posterior skull prominent protrude tailbone prominent protruding coccyx prominent protruding tailbone prominent scalp vein prominent scalp veins prominent schwalbe line prominent schwalbe lines prominent scrotal raphe prominent sella turcica prominent smile line prominent smile lines prominent superficial vasculature prominent superficial vein prominent superficial veins prominent supraorbital margin prominent supraorbital margins prominent supraorbital ridge prominent supraorbital ridges prominent tongue groove prominent tongue grooves prominent u wave prominent upper incisor prominent upper incisors prominent upper jaw prominent upper lip prominent xiphoid process pronounce nasal tip pronounced nasal tip proportionate short stature proportionate small stature proportionate tall stature protein c deficiency protein in urine protein s deficiency protrude low lip protrude nasal bridge protrude supraorbital ridge protrude upper incisor protrude upper lip protruding lower lip protruding nasal bridge protruding supraorbital ridge protruding upper incisors protruding upper lip proximal aortic coarctation proximal esophageal atresia proximal femoral epiphysiolysis proximal fibular overgrowth proximal foot symphalangism proximal limb weakness proximal muscle atrophy proximal muscle waste proximal muscle wasting proximal muscle weakness proximal phalanges osteolysis proximal phalanx osteolysis proximal radial shortening proximal renal tubulopathy proximal tibial hypoplasia proximal tibial hypopolasia proximal tubular acidosis proximal tubular defect proximal tubule dysfunction proximally place hallux proximally place lunate proximally place thumb proximally placed halluces proximally placed lunate proximally placed thumbs pruritis on abdomen pruritis on breast pruritis on hand pruritus on foot pseudo - anodontia pseudo - chilblain pseudo - fracture pseudo - fractures pseudoarthrosis of clavicle pseudobulbar behavioral symptom pseudobulbar behavioral symptoms pseudobulbar behavioural symptom pseudobulbar behavioural symptoms psychic epileptic aura psychomotor development deficiency psychomotor development failure psychomotor developmental delay pterygium of nail pterygium of nails puffiness around eye pugilistic facial appearance pulmonary air embolism pulmonary alveolar proteinosis pulmonary arterial atherosclerosis pulmonary arterial hypertension pulmonary arteriovenous fistula pulmonary arteriovenous fistulas pulmonary arteriovenous malformation pulmonary artery aneurysm pulmonary artery atresia pulmonary artery dilatation pulmonary artery hypertension pulmonary artery hypoplasia pulmonary artery sling pulmonary artery stenosis pulmonary artery vasoconstriction pulmonary av malformation pulmonary capillary angioectasia pulmonary capillary hemangiomatosis pulmonary carcinoid tumor pulmonary carcinoid tumour pulmonary eosinophilic infiltrate pulmonary eosinophilic infiltration pulmonary fat embolism pulmonary hypertensive crisis pulmonary imaging sign pulmonary interstitial thickening pulmonary parenchymal band pulmonary situs ambiguus pulmonary situs inversus pulmonary valve atresia pulmonary valve defect pulmonary valve defects pulmonary valve stenosis pulmonary venolobar syndrome pulmonary venoocclusive disease pulmonary venous hypertension pulmonary venous occlusion pulmonary venous stenosis pulmonic valve myxoma pulmonic valve stenosis pulp canal obliteration pulverulent nuclear cataract punctate corneal dystrophy punctate corneal opacities punctate corneal opacity punctate lenticular opacities punctate lenticular opacity punctate palmar hyperkeratosis punctate palmoplantar hyperkeratosis punctate tarsal calcification punctate vertebral calcification punctate vertebral calcifications puolmonary valve insufficiency pure gonadal dysgenesis pyoderma fistulans significa pyramidal tract disease pyramidal tract dysfunction pyramidal tract sign pyramidal tract signs pyriform aperture stenosis quadriceps muscle atrophy quadriceps muscle weakness quadricuspid aortic valve quadriplegia , episodic quadruple gallop rhythm question mark ear question mark ears radial artery aplasia radial club hand radial head dislocation radial head subluxation radial longitudinal deficiency radial metaphyseal irregularity radial ray abnormality radial ray anomaly radial ray deformity radial ray hypoplasia radially deviate finger radially deviate phalanx radially deviate wrist radially deviated fingers radially deviated phalanges radially deviated wrists railroad track ear railroad track ears railroad track sign raise immunoglobulin level raise intraocular pressure raise liver enzyme raised immunoglobulin levels raised intraocular pressure raised liver enzymes rapid heart beat rapid neurologic deterioration raynaud 's phenomenon reactive airway disease recede low jaw receding lower jaw receptive language delay recess nasal dorsum recess nasal ridge recessed nasal dorsum recessed nasal ridge rectal arteriovenous malformation rectilinear profile ultrastructurally rectilinear profiles ultrastructurally rectus superior atrophy recur pancreas inflammation recurrent abdominal hernia recurrent abscess formation recurrent aphthous stomatitis recurrent aphthous ulcer recurrent aphthous ulcers recurrent aspergillus infection recurrent aspergillus infections recurrent aspiration pneumonia recurrent bacterial infection recurrent bacterial infections recurrent bacterial meningitis recurrent bacterial uri recurrent bladder infection recurrent bladder infections recurrent bronchopulmonary infection recurrent bronchopulmonary infections recurrent candida infection recurrent candida infections recurrent canker sore recurrent canker sores recurrent cerebral haemorrhage recurrent cerebral hemorrhage recurrent chest infection recurrent chest infections recurrent corneal erosion recurrent corneal erosions recurrent corneal ulceration recurrent corneal ulcerations recurrent cough spasm recurrent coughing spasms recurrent ear infection recurrent ear infections recurrent enteroviral infection recurrent enteroviral infections recurrent external ophthalmoplegia recurrent fungal infection recurrent fungal infections recurrent gastrointestinal infection recurrent gastrointestinal infections recurrent genital herpes recurrent hand flap recurrent hand flapping recurrent hemorrhagic stroke recurrent herpes labialis recurrent hypoglycemic episode recurrent hypoglycemic episodes recurrent implantation failure recurrent infantile hypoglycemia recurrent interdigital mycosis recurrent interdigital tinea recurrent intrapulmonary haemorrhage recurrent intrapulmonary hemorrhage recurrent joint dislocation recurrent joint dislocations recurrent klebsiella infection recurrent klebsiella infections recurrent low potassium recurrent mandibular subluxation recurrent mandibular subluxations recurrent meningococcal disease recurrent mycobacterial infection recurrent mycobacterial infections recurrent neisseria infection recurrent neisseria infections recurrent neisserial infection recurrent neisserial infections recurrent opportunistic infection recurrent opportunistic infections recurrent oral aphthae recurrent oral herpes recurrent otitis media recurrent otitis medium recurrent parasitic infection recurrent parasitic infections recurrent paroxysmal headache recurrent patellar dislocation recurrent plantar mycosis recurrent protozoan infection recurrent protozoan infections recurrent pulmonary haemorrhage recurrent pulmonary hemorrhage recurrent pulmonary infection recurrent pulmonary infections recurrent pyogenic infection recurrent pyogenic infections recurrent rectal bleeding recurrent respiratory infection recurrent respiratory infections recurrent shoulder dislocation recurrent sinopulmonary infection recurrent sinopulmonary infections recurrent sinus disease recurrent skin infection recurrent skin infections recurrent sore throat recurrent spontaneous abortion recurrent staphylococcal infection recurrent staphylococcal infections recurrent streptococcal infection recurrent streptococcal infections recurrent subcortical infarct recurrent subcortical infarcts recurrent thromboembolic disease recurrent venous thrombosis recurrent viral infection recurrent viral infections recurrent viral pneumonia recurrent vulvovaginal candidiasis recurring pancreas inflammation red - blind red - weak red brown urine red cell acanthocytosis red cell aplasia red cell stomatocytosis red hair color red hair colour reduce amygdala volume reduce antithrombin antigen reduce arm span reduce corneal reflex reduce corneal sensation reduce creatinine clearance reduce creatinine level reduce csf lactate reduce delayed hypersensitivity reduce drug efficacy reduce ejection fraction reduce erythrocyte volume reduce faecal osmolality reduce fecal osmolality reduce fetal movement reduce foetal movement reduce haemoglobin a reduce haptoglobin level reduce head circumference reduce hemoglobin a reduce iga level reduce igg level reduce igg2 level reduce igm level reduce immunoglobulin level reduce iris pigmentation reduce isohemagglutinin level reduce kininogen activity reduce leukocyte alp reduce mental health reduce prothrombin activity reduce prothrombin antigen reduce prothrombin consumption reduce residual volume reduce serum copper reduce serum ferritin reduce sperm motility reduce spine movement reduce subcutaneous fat reduce systolic function reduce tendon reflex reduce transferrin level reduce urinary osmolality reduce visual accommodation reduce visual acuity reduce vital capacity reduced aldolase level reduced amygdala volume reduced antithrombin antigen reduced arm span reduced catalase level reduced cholinesterase level reduced corneal reflex reduced corneal sensation reduced creatinine clearance reduced creatinine levels reduced csf lactate reduced delayed hypersensitivity reduced drug efficacy reduced ejection fraction reduced erythrocyte volume reduced faecal osmolality reduced fecal osmolality reduced fetal movement reduced fetal movements reduced foetal movement reduced foetal movements reduced haemoglobin a reduced haptoglobin level reduced head circumference reduced hemoglobin a reduced iga levels reduced igg levels reduced igg2 levels reduced igm levels reduced immunoglobulin levels reduced iris pigmentation reduced isohemagglutinin level reduced kininogen activity reduced leukocyte alp reduced mental health reduced prothrombin activity reduced prothrombin antigen reduced prothrombin consumption reduced residual volume reduced serum copper reduced serum ferritin reduced sperm motility reduced spine movement reduced subcutaneous fat reduced systolic function reduced tendon reflexes reduced transferrin level reduced urinary osmolality reduced visual accommodation reduced visual acuity reduced vital capacity reducted hppd activity reduction of oligodendroglia redundant eyelid skin redundant neck skin redundant nuchal skin redundant skin fold redundant skin folds reflex anoxic seizure reflex anoxic seizures reflex asystolic syncope refractory drug response refractory macrocytic anaemia refractory macrocytic anemia refractory sideroblastic anaemia refractory sideroblastic anemia refractory status epilepticus relative mandibular prognathism relative short stature relatively large head relatively short spine renal acidification defect renal artery aneurysm renal artery atherosclerosis renal artery duplication renal artery stenosis renal bicarbonate wasting renal c3 deposition renal ca waste renal ca wasting renal ca2+ wasting renal calcium wasting renal cell carcinoma renal chloride wasting renal cl wasting renal cortical adenoma renal cortical atrophy renal cortical cyst renal cortical cysts renal cortical hyperechogenicity renal cortical hypoechogeneity renal cortical microcysts renal cortical necrosis renal corticomedullary cyst renal corticomedullary cysts renal cystic dysplasia renal fanconi syndrome renal functional abnormality renal glomerular fibrosis renal interstitial amyloid renal interstitial amyloidosis renal interstitial deposit renal interstitial deposits renal interstitial edema renal interstitial fibrosis renal interstitial granuloma renal interstitial granulomas renal interstitial granulomata renal interstitial haemorrhage renal interstitial hemorrhage renal interstitial hemosiderin renal interstitial inflammation renal interstitial oedema renal intratubular cast renal intratubular casts renal intratubular crystal renal intratubular crystals renal k waste renal k wasting renal lymphocytic tubulitis renal magnesium wasting renal medullary hyperechogenicity renal na waste renal na wasting renal na+ wasting renal neutrophilic tubulitis renal papillary necrosis renal parenchymal abcess renal parenchymal necrosis renal pelvic carcinoma renal pelvic diverticulum renal phosphate wasting renal potassium wasting renal salt waste renal salt wasting renal sodium wasting renal tubular acidosis renal tubular atrophy renal tubular cyst renal tubular defect renal tubular disease renal tubular dysfunction renal tubular dysgenesis renal tubular necrosis renal tubule cyst renal urothelial carcinoma repeat bladder infection repeat implantation failure repeated bladder infections repeated implantation failure repetitive compulsive behavior repetitive compulsive behaviour respiratory function loss respiratory muscle weakness respiratory system tumor respiratory system tumour respiratory tract infection restless legs syndrome restrict chest movement restrict elbow extension restrict elbow motion restrict hip extension restrict neck movement restricted chest movement restricted elbow extension restricted elbow motion restricted hip extension restricted neck movement restrictive external ophthalmoplegia restrictive lung disease restrictive respiratory disease restrictive respiratory insufficiency restrictive respiratory syndrome restrictive ventilatory defect retain baby teeth retain deciduous teeth retain primary teeth retained baby teeth retained deciduous teeth retained primary teeth retard bone age retard motor development retarded bone age retarded mental development retarded motor development retarded psychomotor development rete ridge flattening reticular pigmentary degeneration reticular pigmentation pattern reticular retinal dystrophy reticulate skin pigmentation reticulated skin pigmentation retinal arterial abnormality retinal arterial macroaneurysms retinal arterial occlusion retinal arterial tortuosity retinal arteriolar constriction retinal arteriolar narrowing retinal arteriolar occlusion retinal arteriolar tortuosity retinal artery occlusion retinal artery tortuousity retinal astrocytic hamartoma retinal capillary hemangioma retinal cavernous angioma retinal cavernous haemangioma retinal cavernous hemangioma retinal peau d'orange retinal pigment clump retinal pigment clumping retinal pigmentary anomaly retinal pigmentary clumping retinal pigmentary degeneration retinal racemose haemangioma retinal racemose hemangioma retinal vascular malformation retinal vascular proliferation retinal vascular tortuosity retinal vein occlusion retinitis pigmentosa inversa retinopathy of prematurity retrobulbar optic neuritis retrograde memory impairment retruded nasal bridge retruded nasal dorsum retruded nasal ridge reverse halo sign reversed halo sign reversible airflow obstruction reversible kidney failure reversible pulmonary obstruction reversible renal failure rhabdomyolysis , acute rhabdomyolysis with exercise rhegmatogenous retinal detachment rheumatoid factor positive rhizomelic arm shortening rhizomelic leg shorten rhizomelic leg shortening rhizomelic limb shorten rhizomelic limb shortening rhizomelic short limb rhizomelic short limbs rhizomelic short stature rhomboid shape cranium rhomboid shape head rhomboid shape skull rhomboid shaped cranium rhomboid shaped head rhomboid shaped skull rib segmentation abnormalities rib segmentation abnormality ribbonlike corneal degeneration ridge cranial suture ridged cranial sutures right aortic arch right atrial dilatation right atrial enlargement right atrial isomerism right atrial thrombus right axis deviation right diaphragmatic hernia right unicoronal synostosis right unilambdoid synostosis right ventricular abnormality right ventricular cardiomyopathy right ventricular dilatation right ventricular failure right ventricular hypertrophy right ventricular impairment ring in ear ring iris heterochromia ringing in ears rocker bottom feet rocker bottom foot rod cone dystrophy rop stage 1 rop stage 2 rop stage 3 rop stage 4 rop stage 4a rop stage 5 rop stage 5a rop stage 5b rop zone 1 rop zone ii rop zone iii rotator cuff tear rough bone trabeculation rough hair texture round facial appearance round facial shape round humeral epiphyses round humeral epiphysis round low back round radial epiphyses round radial epiphysis round retinal heme rounded lower back rudimentary 2nd metacarpal rudimentary fallopian tube rudimentary fallopian tubes rupture of tendon rupture of tendons saccadic pursuit movement saccadic pursuit movements saccadic slow pursuit saccadic smooth pursuit saccular conjunctival aneurysm saccular conjunctival aneurysms saccular conjunctival dilatation saccular conjunctival dilatations sacral segmentation defect sacrococcygeal pilonidal abnormality sacroiliac joint synovitis saddle nose deformity sagittal suture synostosis salivary gland disease salivary gland neoplasia salivary gland neoplasm salivary gland oncocytoma salmonella bone infection salt - wasting sandy hair color sandy hair colour scalp hair loss scanty adipose tissue scanty lower eyelash scanty lower eyelashes scapular muscle atrophy scapular muscle hypertrophy scapulohumeral muscular dystrophy schmorl 's node schmorl 's nodes schwann cell tumor schwann cell tumour scleroderma lung disease scleroderma of lung sclerosis of humerus sclerosis of skull sclerotic costochondral joint sclerotic costochondral joints sclerotic cranial suture sclerotic cranial sutures sclerotic forearm bone sclerotic forearm bones sclerotic humeral metaphysis sclerotic radial epiphyses sclerotic radial epiphysis sclerotic skull base sclerotic vertebral body sclerotic vertebral endplate sclerotic vertebral endplates scoliosis , thoracolumbar scrotum surround penis scrotum surrounds penis sebaceous gland carcinoma second finger clinodactyly second toe symphalangism secondary adrenal insufficiency secondary alveolar ridge secondary alveolar ridges secondary caesarian section secondary vesicoureteral reflux secretory adrenal adenoma secretory adrenocortical adenoma secretory iga deficiency sectoral retinitis pigmentosa segmental atonic seizure segmental clonic seizure segmental hyperkinetic seizure segmental hypotonic seizure segmental motor seizure segmental myoclonic seizure segmental myoclonic seizures segmental peripheral demyelination segmental tonic seizure selective tooth agenesis self - biting self - harm self - mutilation self - neglect sense of doom sensitivity to noise sensitivity to sunlight sensorimotor peripheral neuropathy sensorineural hearing impairment sensorineural hearing loss sensory ataxic neuropathy sensory axonal neuropathy septic pulmonary emboli septic pulmonary embolism septic pulmonary embolus septum primum defect serous ovarian cyst serous pericardial effusion serous retinal detachment serpiginous cutaneous lesion serrate intestinal polyp serrated intestinal polyps sertoli cell neoplasia sertoli cell neoplasm serum antimitochrondrial antibodies serum antimitochrondrial antibody serum antinuclear antibody serum protein abnormality severe adenovirus infection severe b lymphocytopenia severe combine immunodeficiency severe combined immunodeficiency severe cytomegalovirus infection severe ebv infection severe falter weight severe faltering weight severe generalise osteoporosis severe generalised osteoporosis severe generalize osteoporosis severe generalized osteoporosis severe gum disease severe hearing impairment severe hearing loss severe hydrops fetalis severe lactic acidosis severe limb shorten severe limb shortening severe mental retardation severe muscular hypotonia severe near sightedness severe norovirus infection severe parainfluenza infection severe periodontal disease severe psychomotor retardation severe recurrent varicella severe sensorineural deafness severe short stature severe sun sensitivity severe temper tantrum severe temper tantrums severe viral infection severe vision loss severe visual impairment severe visual loss severe weight faltering severely close sighted severely impaired vision severely near sight severely near sighted shallow acetabular fossa shallow acetabular fossae shallow anterior chamber shallow eye socket shallow eye sockets shallow nasolabial fold shallow orbital ridge shallow orbital ridges shallow palm line shallow palmar crease shallow palmar creases shallow supraorbital ridge shark tooth incisor sherman 's disease short 1st metacarpal short 2nd finger short 2nd metacarpal short 2nd toe short 3rd finger short 3rd metacarpal short 3rd toe short 4th finger short 4th metacarpal short 4th metacarpals short 4th toe short 5th finger short 5th metacarpal short 5th toe short attention span short big toe short calf bone short corpus callosum short dental root short dental roots short distal phalanges short distal phalanx short femoral neck short femoral necks short fifth finger short fifth fingers short fifth metacarpal short fifth metacarpals short fifth metatarsal short fifth toe short finger bone short finger bones short first metacarpal short first metacarpals short first metatarsal short foot phalanges short foot phalanx short forearm bone short forearm bones short fourth metacarpal short fourth metacarpals short fourth metatarsal short fourth metatarsals short fourth metatarsus short fourth toe short hard palate short iliac bone short iliac bones short index finger short index fingers short intermamillary distance short limb dwarfism short lingual frenulum short lingual frenum short little finger short little toe short long bone short low eyelash short low eyelid short low limb short lower eyelashes short lower eyelid short lower limbs short mandibular condyle short mandibular condyles short mandibular rami short mandibular ramus short metacarpal bone short metacarpal bones short metatarsal bone short metatarsal bones short middle finger short middle phalanges short middle phalanx short nasal bridge short nasal septum short palatine uvula short palpebral fissure short palpebral fissures short pelvis bone short pelvis bones short pinkie finger short pinkie toe short pinky finger short pinky toe short point phalanx short pointed phalanges short proximal phalanges short proximal phalanx short ring finger short sacroiliac notch short second metatarsal short second toe short sperm flagella short sperm flagellum short telomere length short third metacarpal short third metacarpals short third metatarsal short third toe short thumb bone short thumb phalanges short thumb phalanx short toe bone short toe bones short tongue frenulum short tongue frenum short tooth root short tooth roots short tubular bone short tubular bones short umbilical cord short upper arm short upper arms short upper eyelash short upper eyelashes short upper eyelid short upper lip shorten gestation time shorten pr interval shorten qt interval shorten sacroiliac notch shorten sleep cycle shortened gestation time shortened pr interval shortened qt interval shortened sacroiliac notches shortened sleep cycle shortening of metacarpal shortening of metacarpals shortening of radius shortness of breath shoulder bone exostoes shoulder flexion contracture shoulder girdle atrophy shoulder girdle weakness shoulder muscle aplasia shoulder muscle degeneration shoulder muscle hypoplasia sick sinus syndrome signet ring sign silent pituitary adenoma simple febrile convulsion simple febrile seizure simple febrile seizures simple fever fit simple kidney cyst simple partial seizure simple partial seizures simple renal cyst simplified gyral pattern simplify gyral pattern simulated distance exotropia single brain ventricle single central eye single central incisor single damage nerve single damaged nerve single flexion crease single isolate chrpe single isolated chrpe single lineage myelodysplasia single median incisor single palmar crease single palmar creases single umbilical artery sinoatrial node disease sinusitis , chronic sinusitis , recurrent situs inversus totalis situs inversus visceralis situs inversus viscerum six lumbar vertebra six lumbar vertebrae sixth nerve palsy skeletal maturation retardation skeletal muscle atrophy skeletal muscle calcinosis skeletal muscle fibrosis skeletal muscle hypertrophy skeletal muscle steatosis skew - foot ski jump nail ski jump nose skin - picking skin adnexal neoplasm skin adnexal tumor skin adnexal tumour skin appendage neoplasm skin vascular malformation skipped heart beat skull stop grow skull stopped growing slack jaw appearance slack jawed appearance sleep onset insomnia sleepy facial expression slender forearm bone slender forearm bones slender humeral diaphysis slender long bone slender long bones slop humeral metaphysis slop radial epiphysis slop radial metaphysis slop ulnar metaphysis sloping humeral metaphysis sloping radial epiphyses sloping radial metaphysis sloping ulnar metaphysis slow eye movement slow eye movements slow grow hair slow growing hair slow horizontal saccade slow slur speech slow visual tracking slowed horizontal saccades slowed slurred speech slowness of movement slowness of movements slowness of thought small 3rd metacarpal small 3rd metacarpals small adrenal cortex small adrenal gland small adrenal glands small adrenal medulla small alveolar ridge small anterior fontanel small anterior fontanelle small baby teeth small basal ganglia small basal ganglion small bowel agenesis small bowel diverticula small bowel diverticulum small bregma suture small bregma sutures small carpal bone small carpal bones small cerebellar cortex small cerebral cortex small cervical vertebra small cervical vertebrae small corpus callosum small cranial suture small cranial sutures small deciduous teeth small facial bone small facial bones small facial muscle small facial muscles small facial skeleton small femoral head small femoral heads small fifth toenail small first rib small foramen magnum small forehead fontanel small frontal sinus small frontal sinuses small head circumference small heel bone small humeral epiphyses small humeral epiphysis small hypophyseal fossa small hypothenar eminence small iliac bodies small iliac body small iliac bone small iliac bones small iliac wing small iliac wings small intestinal bleeding small intestinal dysmotility small intestinal haemorrhage small intestinal hemorrhage small intestinal perforation small intestinal polyp small intestinal polyposis small intestinal stenosis small intestine carcinoid small intestine tumor small intestine tumour small labia majora small labium majora small low eyelid small low jaw small lower eyelid small lower jaw small lymph node small lymph nodes small malar bone small mandibular condyle small milk teeth small nasal ala small nasal alae small nasal bone small nasal bridge small nasal septum small nasal tip small neck muscle small odontoid peg small odontoid process small oral aperture small palpebral fissure small palpebral fissures small paranasal sinus small parathyroid gland small parathyroid glands small pec muscle small pituitary fossa small pituitary gland small platelet size small platelets size small point chin small pointed chin small posterior fossa small primary teeth small radial epiphyses small radial epiphysis small radial head small retruded chin small sacroiliac notch small sacrosciatic notch small sacrosciatic notches small sella turcica small semicircular canal small shallow orbit small shallow orbits small shoulder blade small soft spot small thenar eminence small thumb epiphysis small thyroid gland small toe bone small toe bones small tooth bud small tooth germ small trapezoid bone small twelfth rib small upper eyelid small upper jaw small vertebral bodies small vertebral body small vessel vasculitis small wrist bone small wrist bones small zygomatic bone smoker 's boil smoker 's boils smooth lingual surface smooth swollen tongue snowflake retinal degeneration snowflake vitreoretinal degeneration socially inappropriate behavior socially inappropriate behaviour soft tissue neoplasm soft tissue sarcoma soft tissue sarcomas soft tooth enamel solid pulmonary nodule solitary bladder diverticulum solitary renal cyst solitary scalp defect solitary splenic abscess somatic sensory dysfunction somnolent facial expression sparse axillary hair sparse body hair sparse bone trabecula sparse bone trabeculae sparse facial hair sparse lateral eyebrow sparse lateral eyebrows sparse lower eyelash sparse lower eyelashes sparse medial eyebrow sparse pubic hair sparse scalp hair sparse upper eyelash sparse upper eyelashes spastic hemiparetic gait spastic paraparetic gait spasticity , progressive spatulate terminal phalanges spatulate terminal phalanx specific antibody deficiency specific learn disability specific learning disability speckle corneal dystrophy speckle lentiginous nevus speckled corneal dystrophy speckled lentiginous nevus speech articulation difficulties speech articulation difficulty sperm head anomaly sperm neck anomaly sperm tail anomaly spermatic cord torsion spermatogenesis maturation arrest spina bifida cystica spina bifida occulta spinal arachnoid cyst spinal arteriovenous malformation spinal canal stenosis spinal cord compression spinal cord disease spinal cord lesion spinal cord pathology spinal cord tumor spinal cord tumour spinal epidural abscess spinal meningeal diverticulum spinal muscle degeneration spinal muscle waste spinal muscle wasting spinal muscular atrophy spinal neurenteric cyst spinocerebellar tract degeneration splanchnic vein thrombosis split - foot split - hand spock 's ear spondyloepiphyseal dysplasia tarda spontaneous collapse lung spontaneous collapsed lung spontaneous esophageal perforation spontaneous esophageal rupture spontaneous filter bleb spontaneous filtering bleb spontaneous hemolytic crises spontaneous hemolytic crisis spontaneous joint haemorrhage spontaneous joint hemorrhage spontaneous neonatal pneumothorax spontaneous pain sensation spontaneous platelet aggregation spontaneous tooth fracture spoon shape thumb spoon shaped thumbs sporadic excessive sweating spotty decrease pigmentation spotty decreased pigmentation spotty increase pigmentation spotty increased pigmentation spur humeral metaphysis spur radial metaphysis spur ulnar metaphysis spurred humeral metaphysis spurred radial metaphysis spurred ulnar metaphysis spurring of femur spurring of tibia spurring of tibiae squamous cell cancer squamous cell carcinoma squamous skin carcinoma square facial shape square humeral metaphysis square iliac bone square iliac bones square off pelvis square pelvis bone squared iliac bones squared off pelvis st segment depression st segment elevation staghorn renal stone static congenital hemeralopia steep acetabular roof steep corneal curvature stereotypical body rock stereotypical body rocking stereotypical hand wring stereotypical hand wringing stereotypical motor behavior stereotypical motor behaviors stereotypical motor behaviour stereotypical motor behaviours sternal punctate calcification sternal punctate calcifications stiff hinge joint stiff hinge joints stiff interphalangeal joint stiff interphalangeal joints stipple chondral calcification stippled chondral calcification storage in hepatocytes straddle atrioventricular valve straddling atrioventricular valve straw color hair straw colored hair straw colour hair straw coloured hair streaky metaphyseal sclerosis stress urinary incontinence stretchable chest skin stretchable face skin stria cutis distensae striae cutis distensae striatal t2 hyperintensity structural foot deformity structural kidney abnormalities structural kidney abnormality structural renal anomalies structural renal anomaly struvite kidney stone struvite kidney stones struvite urinary crystal struvite urinary crystals stye of eyelid subcapsular lenticular cataract subcapsular lenticular cataracts subchorionic septal cyst subcortical band heterotopia subcortical cerebral atrophy subependymal neuronal heterotopia subepithelial corneal opacities subepithelial corneal opacity subfoveal choroidal neovascularization subluxation of patella submucosal cleft palate submucous cleft lip submucous cleft velum submucous labial cleft subperiosteal bone formation subperiosteal bone resorption subpleural curvilinear line subpleural interstitial thickening subsolid pulmonary nodule substantia nigra gliosis subtle status epilepticus subungual hyperkeratotic fragment subungual hyperkeratotic fragments subvalvular aortic stenosis sudden cardiac arrest sudden cardiac death sudden episodic apnea sudomotor sympathetic dysfunction sulfite oxidase deficiency sun set eye sun setting eyes superficial corneal opacities superficial corneal opacity superficial episcleral hypaeremia superficial episcleral hyperemia superficial spreading melanoma superior cerebellar dysplasia superior lens subluxation superior mediastinal mass superior oblique palsy superior pectus carinatum superior rectus atrophy superior rib anomalies superior rib anomaly superior subluxate lens superior subluxated lens superiorly displace ear superiorly displaced ears superiorly position umbilicus superiorly positioned umbilicus supernumary cranial suture supernumary hair swirl supernumary hair swirls supernumary hair whorl supernumerary carpal bone supernumerary carpal bones supernumerary maxillary incisor supernumerary metacarpal bone supernumerary metacarpal bones supernumerary oral frenulum supernumerary oral frenum supernumerary pulmonary fissure supernumerary tracheal bronchus supranuclear downgaze palsy supranuclear gaze palsy supranuclear gaze paralysis supranuclear upgaze palsy suprascapular nerve entrapment suprasellar arachnoid cyst supravalvular aortic stenosis supravalvular mitral ring sural nerve atrophy surfer 's eye susceptibility to chickenpox susceptibility to herpesvirus susceptibility to infection sweat gland disease sweating , decrease sweating , decreased sweating , increase sweating , increased swell of brain swell of eyelid swell of finger swell of ureter swelling of brain swelling of eyelids swelling of fingers swelling of ureter swimmer 's ear swollen lymph node swollen lymph nodes symmetric peripheral demyelination symphalangism , distal syndactyly , cutaneous syndactyly of feet syndactyly of foot syndactyly of toe syndactyly of toes synostosis involve digit synostosis involving digits synostosis of joint synostosis of joints syphilitic primary incisor systemic artery abnormality systemic lupus erythematosus systolic heart murmur t cell lymphoma t2 hypointense brainstem t2 hypointense thalamus talipes cavus equinovarus talipes foot deformities talipes foot deformity tall shape cranium tall shape head tall shape skull tall shaped cranium tall shaped head tall shaped skull tall vertebral bodies tall vertebral body taper distal phalanx taper finger bone tapered distal phalanges tapered finger bone tapered sperm head tarsal bone fusion tarsal bone osteolysis tarsal bone synostosis tarsal delay ossification tarsal delayed ossification teeth , agenesis teeth , double teeth , malposition teeth without root teeth without roots tegumentary leishmaniasis susceptibility telangiectases of sol telangiectases of soles telangiectasia , conjunctival telangiectasia , facial teleangiectases of palm teleangiectases of palms teleangiectases of sol teleangiectases of soles temporal artery tortuosity temporal cortical atrophy temporal skin defect temporomandibular joint adhesion temporomandibular joint ankylosis temporomandibular joint crepitus temporomandibular joint fusion temporomandibular joint noise temporomandibular joint sound temporomandibular joint sounds tent upper lip tented upper lip tertiary adrenal insufficiency tessier facial cleft testicular regression syndrome tetra - amelia tetralogy of fallot tetraplegia / tetraparesis tetrology of fallot thalamic arteriovenous malformation thenar muscle atrophy thenar muscle hypoplasia thenar muscle weakness thick alveolar ridge thick alveolar ridges thick calvarial bone thick calvarial bones thick cerebellar peduncle thick cerebellar peduncles thick cerebral cortex thick corpus callosum thick craniofacial bone thick craniofacial bones thick growth plate thick growth plates thick low lip thick lower lip thick mandibular bone thick nasal ala thick nasal alae thick nasal septum thick paranasal tissue thick skull base thick skull bone thick skull bones thick upper lip thick vermilion border thicken achilles tendon thicken alveolar ridge thicken cranial vault thicken interventricular septum thicken nuchal skin thicken skull cap thickened achilles tendon thickened alveolar ridges thickened cranial vault thickened interventricular septum thickened nuchal skin thickened skull cap thigh muscle atrophy thin anteverted nares thin anteverted naris thin body habitus thin bony cortex thin corpus callosum thin cranial bone thin dental enamel thin ear helix thin hair shaft thin hair texture thin long bone thin long bones thin low eyelash thin low face thin low jaw thin low lip thin lower eyelashes thin lower face thin lower jaw thin lower lip thin metacarpal cortex thin metacarpal cortices thin metatarsal cortex thin metatarsal cortices thin nasal base thin nasal dorsum thin nasal ridge thin nasal septum thin nasal tip thin scalp hair thin skull bone thin tooth enamel thin upper lip thin upper lips thin vermilion border thin vermilion borders thin vestibular nerve thin zona pellucida third heart sound thoracic aorta calcification thoracic aortic aneurysm thoracic cystic lymphangioma thoracic ectopia cordis thoracic situs inversus thoracoabdominal ectopia cordis thoracoabdominal wall defect thoracocervical ectopia cordis thoracolumbar gibbus deformity thoracolumbar interpediculate narrowness thrombocytopenia , congenital thymic hormone decrease thymic hormone decreased thyroglossal duct cyst thyroid atypical adenoma thyroid follicular adenoma thyroid follicular hyperplasia thyroid gland inflammation thyroid hormone resistance thyroid macrofollicular adenoma thyroid microfollicular adenoma thyroid papillary adenoma thyroid papillary carcinoma tibial arterial calcification tibial metaphyseal irregularity tibialis muscle degeneration tibialis muscle weakness tiger tail banding tight achilles tendon tight lingual frenulum tightly close lip tightly closed lips tightness in chest tightness of chest tilt low jaw tilt upper jaw tilted lower jaw tilted upper jaw toe - walking toe extensor amyotrophy tonic status epilepticus tooth , semilunar tooth , supernumerary tooth enamel pit tooth enamel pits tooth mass excess tooth mass insufficiency tooth size discrepancy top1 antibody positivity torsade de pointes torsades de pointes torticollis , congenital tortuous carotid arteries tortuous carotid artery tortuous cerebral arteries tortuous cerebral artery tortuous lymphatic vessel tortuous lymphatic vessels tortuous retinal arteriole tortuous retinal arterioles tortuous retinal vessel tortuous retinal vessels tortuous vertebral arteries tortuous vertebral artery total colonic aganglionosis total intestinal aganglionosis total vision loss tower cranium shape tower skull shape toxaemia of pregnancy toxemia of pregnancy toxic drug response tracheal duplication cyst tracheal ectopic calcification tractional retinal detachment tragus , bifid tragus , duplicate tragus , duplicated tragus , prominent transient global amnesia transient hearing impairment transient ischaemic attack transient ischaemic attacks transient ischemic attack transient ischemic attacks transient myeloproliferative disorder transient myeloproliferative syndrome transient nephrotic syndrome transient psychotic episode transient psychotic episodes transient pulmonary infiltrates transitional palmar crease transmantle columnar heterotopia transthyretin cardiac amyloidosis transudative pleural effusion transverse earlobe crease transverse earlobe creases transverse facial cleft transverse maxillary deficiency transverse maxillary insufficiency transverse metaphyseal band transverse metaphyseal bands transverse palmar crease transverse vaginal membrane transverse vaginal septum treacher collins syndrome tremble eye lens trembling eye lens tremor , postural tremor at rest tremor in hand tremor of hand tremor of hands tremor of limb tremor of limbs tremors in hands triangle shape tongue triangle shaped tongue triangular cranium shape triangular facial shape triangular head shape triangular nasal tip triangular nuclear cataract triangular shape mouth triangular shaped mouth triangular skull shape triangular thumb phalanges triangular thumb phalanx tricuspid valve atresia tricuspid valve dysplasia tricuspid valve hypoplasia tricuspid valve prolapse tricuspid valve regurgitation trilobar cranium shape trilobar skull shape triphalangy of thumb trochlear nerve palsy trophic limb change trophic limb changes trouble remember word trouble remembering words true distance exotropia true ependymal rosette true pulp stone true pulp stones tsh deficient hypothyroidism ttr cardiac amyloidosis tubular luminal dilatation tubular metacarpal bone tubular metacarpal bones tubular microcystic change tubulointerstitial bacterial infiltration tubulointerstitial fungal infiltration tubulointerstitial microganismal infiltration tubulointerstitial mycobacterial infiltration tubulointerstitial renal fibrosis tubulointerstitial viral infiltration tubulonodular pericallosal lipoma twelfth rib hypoplasia twist blood vessel twisted blood vessels twisted cerebral arteries twisted cerebral artery twisted fallopian tube twitch around eye twitching around eyes two underdeveloped breast two underdeveloped breasts two vessel cord tympanic nerve tumor tympanic nerve tumors tympanic nerve tumour tympanic nerve tumours type 1 cryptotia type 1 diabetes type 1 lissencephaly type 2 cryptotia type 2 diabetes type 2 lissencephaly type 3 lissencephaly type a brachydactyly type a1 brachydactyly type a2 brachydactyly type a3 brachydactyly type a4 brachydactyly type a5 brachydactyly type b brachydactyly type c brachydactyly type d brachydactyly type e brachydactyly type i cryptotia type i diabetes type i lissencephaly type ii cryptotia type ii diabetes type ii lissencephaly type iii lissencephaly typical absence seizure typical absence seizures typical atrial flutter typical perifissural nodule u wave inversion uhl 's anomaly ulnar metaphyseal irregularity umbilical cord cyst umbilical cord haematoma umbilical cord hematoma umbilical cord issue umbilical cord knot umbilical vein varix unchanging facial expression uncontrolled eye movement uncontrolled eye movements uncoordinated eye movement uncoordinated limb movement underdeveloped adrenal gland underdeveloped adrenal glands underdeveloped aortic arch underdeveloped back bone underdeveloped back bones underdeveloped calf muscle underdeveloped calf muscles underdeveloped cervical vertebra underdeveloped cervical vertebrae underdeveloped dental root underdeveloped dental roots underdeveloped ear cartilage underdeveloped fallopian tube underdeveloped fifth fingernail underdeveloped fifth toenail underdeveloped first rib underdeveloped frontal lobe underdeveloped frontal sinus underdeveloped frontal sinuses underdeveloped heel bone underdeveloped inner lip underdeveloped inner lips underdeveloped iris stroma underdeveloped leave heart underdeveloped left heart underdeveloped lung artery underdeveloped lung vein underdeveloped lung veins underdeveloped lymphatic vessel underdeveloped lymphatic vessels underdeveloped male genitalia underdeveloped mandibular rami underdeveloped mandibular ramus underdeveloped nasal ala underdeveloped nasal alae underdeveloped nasolabial fold underdeveloped nasopharyngeal adenoid underdeveloped nasopharyngeal adenoids underdeveloped olfactory tract underdeveloped optic nerve underdeveloped optic nerves underdeveloped optic tract underdeveloped parathyroid gland underdeveloped parathyroid glands underdeveloped pec muscle underdeveloped pituitary gland underdeveloped pulmonary artery underdeveloped right heart underdeveloped shoulder muscle underdeveloped small intestine underdeveloped spinal process underdeveloped spinal processes underdeveloped superior helices underdeveloped superior helix underdeveloped supraorbital ridge underdeveloped supraorbital ridges underdeveloped sweat gland underdeveloped sweat glands underdeveloped tear duct underdeveloped tear gland underdeveloped teeth enamel underdeveloped tooth root underdeveloped tooth roots underdeveloped tricuspid valve underdeveloped twelfth rib underdeveloped vaginal lip underdeveloped vaginal lips underdeveloped ventral pons underdevelopment of cheekbone underdevelopment of eyelid underdevelopment of mandible underdevelopment of maxilla underdevelopment of midface underdevelopment of nose underdevelopment of pharynx underdevelopment of premaxilla underdevelopment of teeth underfolded superior helices underfolded superior helix undermodelled forearm bone undermodelled forearm bones undermodelled hand bone undermodelled hand bones underorbital skin crease underorbital skin creases undetectable pattern electroretinogram undeveloped small intestine unequal eye height unequal nostril shape unequal nostril size unequal pupil dilatation unequal pupil size unequal skull shape unerupted adult dentition unerupted adult teeth unerupted permanent dentition unerupted permanent teeth uneven craniofacial structure uneven craniofacial structures uneven head shape uneven low jaw uneven lower jaw uneven nostril shape uneven nostril size uneven skull shape uneven upper jaw unguarded tricuspid valve unicameral bone cyst unicuspid aortic valve unifocal splenic abscess unilateral breast hypoplasia unilateral chest hypoplasia unilateral cleft lip unilateral cleft palate unilateral clonic seizure unilateral clonic seizures unilateral coronal craniosynostosis unilateral facial palsy unilateral facial paralysis unilateral facial weakness unilateral kidney agenesis unilateral kidney wasting unilateral lambdoid craniosynostosis unilateral lung agenesis unilateral perisylvian polymicrogyria unilateral pulmonary agenesis unilateral radial aplasia unilateral renal agenesis unilateral renal atrophy unilateral renal dysplasia unilateral renal hypoplasia unilateral ulnar hypoplasia unilateral vestibular schwannoma unilateral wrist contracture unilocular splenic abscess unopened atrioventricular valve unopened tear duct unopened tricuspid valve unossified vertebral bodies unossified vertebral body unregulated immune response unroofed coronary sinus unusal lung shape unusual breathing pattern unusual breathing patterns unusual cns infection unusual facial appearance unusual fungal infection unusual gastrointestinal infection unusual gi infection unusual helminthic infection unusual mouth shape unusual parasitic infection unusual protozoan infection unusual skin infection unusually long eyelash unusually long eyelashes upper airway obstruction upper extremity akinesia upper extremity hypokinesia upper eyelid coloboma upper eyelid colobomas upper eyelid edema upper eyelid entropion upper eyelid laxity upper eyelid oedema upper eyelid retraction upper jaw deficiency upper jaw excess upper jaw retrusion upper limb amyotrophy upper limb asymmetry upper limb brachymesomelia upper limb dysmetria upper limb hypertonia upper limb pain upper limb peromelia upper limb phocomelia upper limb spasticity upper limb undergrowth upper lip pit upslanted palpebral fissure upslanted palpebral fissures upslanting palpebral fissure upslanting palpebral fissures upswept frontal hair upswept frontal hairline upturned nasal tip upturned nasal tips upturned oral commisures ureteropelvic junction obstruction ureteropelvic junction stenosis ureterovesical junction obstruction urethral opening absent urethral sphincter sclerosis urgency frequency syndrome uric acid crystalluria uric acid nephrolithiasis uric acid stone uric acid stones uric acid urolithiasis urinary bladder inflammation urinary electrolyte imbalance urinary erythrocyte cast urinary glycosaminoglycan excretion urinary lipid excretion urinary mulberry cell urinary mulberry cells urinary space collagenization urinary tract abnormalities urinary tract abnormality urinary tract anomalies urinary tract anomaly urinary tract atresia urinary tract infection urinary tract infections urinary tract neoplasia urinary tract neoplasm urinary xanthine stone urinary xanthine stones urine concentrating defect urine concentration defect urogenital sinus anomaly usual interstitial pneumonia uterine arteriovenous malformation uterine cervix inflammation v - sign va deferens atresia vaccine associate measles vaccine associated measles vacuolated blood lymphocyte vacuolated blood lymphocytes vagal nerve tumor vagal nerve tumors vagal nerve tumour vagal nerve tumours vaginal fish odor vaginal fish odour vaginal mucosal ulceration valgus foot deformity valgus hand deformity valvular aortic stenosis valvular heart disease vas deferens atresia vascular skin abnormality vault pontine tegmentum vaulted pontine tegmentum vein of servelle velamentous cord insertion velvety skin texture venous air embolism ventricular escape rhythm ventricular premature beat ventricular septal aneurysm ventricular septal defect ventricular septal defects ventricular septal dilatation ventricular septal hypertrophy ventricular septum abnormality verneuil 's disease vertebral arch abnormalities vertebral arch abnormality vertebral arch anomaly vertebral artery calcification vertebral artery hypoplasia vertebral artery tortuosity vertebral body compression vertebral body fusion vertebral body sclerosis vertebral compression fracture vertebral compression fractures vertebral coronal cleft vertebral coronal clefts vertebral endplate irregularity vertebral segmentation defect vertical eyelid laxity vertical facial deficiency vertical facial excess vertical facial insufficiency vertical forehead crease vertical forehead creases vertical forehead rhytids vertical forehead wrinkle vertical forehead wrinkles vertical gaze palsy vertical incomitant strabismus vertical menton crease vertical orbital dystopia vertical vaginal septum very poor growth very short digit very short digits vestibular function defect vestibular saccular degeneration violet lip discoloration visible nasal septum visual field constriction visual field defect visual field defects visual fixation instability visual gaze preference visual pathway misrouting vitamin a deficiency vitamin b1 deficiency vitamin b12 deficiency vitamin b2 deficiency vitamin b3 deficiency vitamin b5 deficiency vitamin b6 deficiency vitamin b8 deficiency vitamin b9 deficiency vitamin c deficiency vitamin d deficiency vitamin e deficiency vitelliform macular dystrophy vitelliform macular lesion vitelliform macular lesions vitreous amyloid deposit vitreous amyloid deposits vitreous inflammatory cell vitreous inflammatory cells vocal cord dysfunction vocal cord paralysis vocal cord paresis vocal cord polyp vomit faecal matter vomit fecal matter vomiting faecal matter vomiting fecal matter von graefe sign von meyenburg complex von meyenburg complexes vulval varicose vein vulvar intraepithelial neoplasia walk on tiptoe walking on tiptoes weak extraocular muscle weak extraocular muscles weak frontalis muscle weak shoulder muscle weak shoulder muscles weakness of face wedge fracture vertebra wedge fractured vertebra wedge shape cranium wedge shape head wedge shape skull wedge shaped cranium wedge shaped head wedge shaped skull whistle facial appearance whistling facial appearance white matter abnormalities white matter abnormality white matter agenesis white matter alteration white matter alterations white matter hyperintensity white pupillary reflex white scaling skin white scaly skin wide 2nd toe wide 3rd toe wide 4th toe wide alveolar margin wide alveolar margins wide anterior fontanel wide anterior fontanelle wide base gait wide base walk wide based gait wide based walk wide big toe wide bregma suture wide bregma sutures wide calf bone wide carpal bone wide carpal bones wide costochondral junction wide costochondral junctions wide cranial suture wide cranial sutures wide cranium shape wide digital bone wide digital bones wide femoral neck wide foramen magnum wide forearm bone wide forearm bones wide gum ridge wide gum ridges wide hamate bone wide hand bone wide hand bones wide head shape wide humeral diaphysis wide humeral epiphyses wide humeral epiphysis wide intermamillary distance wide lateral eyebrow wide long bone wide long bones wide nasal base wide nasal bridge wide nasal dorsum wide nasal ridge wide nasal septum wide palpebral fissure wide palpebral fissures wide pubic symphysis wide radial diaphysis wide radial metaphysis wide radioulnar joint wide radioulnar joints wide rib cage wide skull shape wide toe bone wide toe bones wide ulnar metaphysis wide unciform bone wide wrist bone wide wrist bones widely space eye widely space nipple widely space teeth widely space toe widely spaced eyes widely spaced nipples widely spaced teeth widely spaced toes widen alveolar ridge widen atrophic scar widen costochondral junction widen cranial suture widen distal phalanx widen femoral neck widen interpedicular distance widen interpupillary distance widen long bone widen metacarpal shaft widen metatarsal shaft widen nasal bridge widen posterior fossa widen sacrosciatic notch widen subarachnoid space widen vestibular aqueduct widened alveolar ridges widened atrophic scar widened costochondral junction widened cranial sutures widened distal phalanges widened femoral necks widened interpedicular distance widened interpupillary distance widened long bones widened metacarpal shaft widened metatarsal shaft widened nasal bridge widened posterior fossa widened sacrosciatic notch widened subarachnoid space widened subarachnoid spaces widened vestibular aqueduct widespread gum disease widow 's peak williams factor deficiency wilm 's tumor wilm 's tumour wing shoulder blade winged shoulder blade witch 's chin woolly scalp hair wooly scalp hair worsen neurological symptom worsening neurological symptoms wrist flexion contracture wrist flexion deformity writer 's cramp xanthelasma of eyelid xanthine dehydrogenase deficiency xanthoma of eyelid xanthoma palmare striatum xanthoma striatum palmare yellow skin plaque zebra stripe sign zygomatic bone excess zygotic cleavage failure 'cigarette paper scarring ' 'curvilinear profile ' ultrastructurally 'curvilinear profiles ' ultrastructurally 'onion bulb ' formation 'onion bulb ' formations 'sea blue ' histiocyte 'sea blue ' histiocytes 10 pair of rib 10 pairs of ribs 11 pair of rib 11 pairs of ribs 2 - aminoadipic aciduria 2 - ethylhydracylic aciduria 2 - hydroxyglutarate aciduria 2 - methylbutyryl glycinuria 2 vessel umbilical cord 3 - hydroxydicarboxylic aciduria 3 - hydroxyisovaleric aciduria 3 - methylglutaconic aciduria 3 - methylglutaric aciduria 4 - hydroxyphenylacetic aciduria 4 - hydroxyphenylpyruvic aciduria 4 - layer lissencephaly 4 - layered lissencephaly 5 - oxoprolinase deficiency 6 - layer lissencephaly 6 - layered lissencephaly abdominal wall muscle weakness aberrant right subclavian artery abnormal 2nd finger morphology abnormal 3rd finger morphology abnormal 4th finger morphology abnormal 5th finger morphology abnormal abducens nerve morphology abnormal absence of menstruation abnormal adipose tissue morphology abnormal adrenal gland position abnormal alpha granule content abnormal alpha granule distribution abnormal alveolar macrophage morphology abnormal amsler grid test abnormal ankle bone maturation abnormal anterior chamber morphology abnormal anterior segment morphology abnormal antimullerian hormone level abnormal antral follicle count abnormal aortic arch morphology abnormal aortic valve morphology abnormal aortic valve physiology abnormal appendicular skeleton morphology abnormal arachnoid mater morphology abnormal arcuate artery morphology abnormal arcuate vein morphology abnormal aryepiglottic fold morphology abnormal ascend aorta morphology abnormal ascending aorta morphology abnormal atrial septum morphology abnormal atrioventricular valve morphology abnormal atrioventricular valve physiology abnormal auditory evoke potential abnormal auditory evoked potentials abnormal axial muscle morphology abnormal axial skeleton morphology abnormal b cell count abnormal b cell morphology abnormal b cell proliferation abnormal big toe bone abnormal big toe bones abnormal biliary tract morphology abnormal biliary tract physiology abnormal blood calcium concentration abnormal blood calcium level abnormal blood calcium levels abnormal blood cation concentration abnormal blood chloride concentration abnormal blood cl concentration abnormal blood coagulation studies abnormal blood coagulation study abnormal blood creatinine level abnormal blood folate concentration abnormal blood gas level abnormal blood glucose concentration abnormal blood ion concentration abnormal blood k concentration abnormal blood na+ level abnormal blood na+ levels abnormal blood o2 level abnormal blood oxygen level abnormal blood oxygen levels abnormal blood phosphate concentration abnormal blood potassium concentration abnormal blood sodium concentration abnormal blood vessel morphology abnormal blood zinc concentration abnormal body mass index abnormal bowman capsule morphology abnormal bowman space morphology abnormal brain pet scan abnormal bronchial artery morphology abnormal bulbus cordis morphology abnormal c peptide level abnormal cadiomyocyte dystrophin stain abnormal cadiomyocyte dystrophin staining abnormal cardiac atrial physiology abnormal cardiac atrium morphology abnormal cardiac biomarker test abnormal cardiac exercise test abnormal cardiac septum morphology abnormal cardiac ventricle morphology abnormal cardiac ventricular function abnormal cardiomyocyte connexin43 stain abnormal cardiomyocyte connexin43 staining abnormal cardiomyocyte mitochondrial morphology abnormal cardiomyocyte plakoglobin stain abnormal cardiomyocyte plakoglobin staining abnormal cardiovascular system physiology abnormal carotid artery morphology abnormal caudate nucleus morphology abnormal celiac artery morphology abnormal central motor function abnormal central sensory function abnormal cerebellar cortex morphology abnormal cerebellar peduncle morphology abnormal cerebellar vermis morphology abnormal cerebral artery morphology abnormal cerebral cortex morphology abnormal cerebral vascular morphology abnormal cerebral vein morphology abnormal cerebral ventricle morphology abnormal cervical spine morphology abnormal choroid plexus morphology abnormal ciliary body morphology abnormal circulate acetylcarnitine concentration abnormal circulate alanine concentration abnormal circulate albumin concentration abnormal circulate amylase level abnormal circulate androgen level abnormal circulate androstenedione concentration abnormal circulate apolipoprotein concentration abnormal circulate arginine concentration abnormal circulate asparagine concentration abnormal circulate aspartate concentration abnormal circulate bilirubin concentration abnormal circulate biopterin concentration abnormal circulate ca concentration abnormal circulate ca2+ concentration abnormal circulate calcium concentration abnormal circulate carbohydrate concentration abnormal circulate carnitine concentration abnormal circulate carnosine concentration abnormal circulate ceruloplasmin concentration abnormal circulate cholesterol concentration abnormal circulate citrulline concentration abnormal circulate ck concentration abnormal circulate copper concentration abnormal circulate corticosterone level abnormal circulate cpk concentration abnormal circulate creatine concentration abnormal circulate creatinine concentration abnormal circulate creatinine level abnormal circulate cysteine concentration abnormal circulate dehydroepiandrosterone concentration abnormal circulate deoxycorticosterone level abnormal circulate eicosanoid concentration abnormal circulate estrogen level abnormal circulate ethanolamine concentration abnormal circulate ferritin concentration abnormal circulate gaba concentration abnormal circulate gastrin concentration abnormal circulate gastrin level abnormal circulate globulin level abnormal circulate glutamate concentration abnormal circulate glutamine concentration abnormal circulate glycerol level abnormal circulate glycine concentration abnormal circulate gonadocorticoid concentration abnormal circulate gonadotropin concentration abnormal circulate gonadotropin level abnormal circulate histidine concentration abnormal circulate homocysteine concentration abnormal circulate hormone concentration abnormal circulate hormone level abnormal circulate iga level abnormal circulate igd level abnormal circulate ige level abnormal circulate igg level abnormal circulate igm level abnormal circulate inhibin level abnormal circulate insulin level abnormal circulate isoleucine concentration abnormal circulate leucine concentration abnormal circulate lipid concentration abnormal circulate lysine concentration abnormal circulate metabolite concentration abnormal circulate methionine concentration abnormal circulate na concentration abnormal circulate neopterin concentration abnormal circulate nicotinurate concentration abnormal circulate nicotinurate level abnormal circulate nucleobase concentration abnormal circulate oestrogen level abnormal circulate ornithine concentration abnormal circulate osteocalcin level abnormal circulate phenylalanine concentration abnormal circulate phospholipid concentration abnormal circulate polysaccharide concentration abnormal circulate porphyrin concentration abnormal circulate prealbumin concentration abnormal circulate pregnenolone concentration abnormal circulate progesterone level abnormal circulate proline concentration abnormal circulate properdin level abnormal circulate prostaglandin circulation abnormal circulate protein concentration abnormal circulate protein level abnormal circulate purine concentration abnormal circulate purine level abnormal circulate pyrimidine concentration abnormal circulate sarcosine concentration abnormal circulate selenium concentration abnormal circulate serine concentration abnormal circulate t4 level abnormal circulate testosterone concentration abnormal circulate threonine concentration abnormal circulate thromboxane concentration abnormal circulate thyroglobulin level abnormal circulate thyrotropin concentration abnormal circulate thyroxine level abnormal circulate transferrin concentration abnormal circulate transferrin level abnormal circulate tryptophan concentration abnormal circulate tyrosine concentration abnormal circulate valine concentration abnormal circulating acetylcarnitine concentration abnormal circulating alanine concentration abnormal circulating albumin concentration abnormal circulating amylase level abnormal circulating androgen level abnormal circulating androstenedione concentration abnormal circulating apolipoprotein concentration abnormal circulating arginine concentration abnormal circulating asparagine concentration abnormal circulating aspartate concentration abnormal circulating bilirubin concentration abnormal circulating biopterin concentration abnormal circulating ca concentration abnormal circulating ca2+ concentration abnormal circulating calcium concentration abnormal circulating carbohydrate concentration abnormal circulating carnitine concentration abnormal circulating carnosine concentration abnormal circulating ceruloplasmin concentration abnormal circulating cholesterol concentration abnormal circulating citrulline concentration abnormal circulating ck concentration abnormal circulating copper concentration abnormal circulating corticosterone level abnormal circulating cpk concentration abnormal circulating creatine concentration abnormal circulating creatinine concentration abnormal circulating creatinine level abnormal circulating cysteine concentration abnormal circulating dehydroepiandrosterone concentration abnormal circulating deoxycorticosterone level abnormal circulating eicosanoid concentration abnormal circulating estrogen level abnormal circulating ethanolamine concentration abnormal circulating ferritin concentration abnormal circulating gaba concentration abnormal circulating gastrin concentration abnormal circulating gastrin level abnormal circulating globulin level abnormal circulating glutamate concentration abnormal circulating glutamine concentration abnormal circulating glycerol level abnormal circulating glycine concentration abnormal circulating gonadocorticoid concentration abnormal circulating gonadotropin concentration abnormal circulating gonadotropin level abnormal circulating histidine concentration abnormal circulating homocysteine concentration abnormal circulating hormone concentration abnormal circulating hormone level abnormal circulating iga level abnormal circulating igd level abnormal circulating ige level abnormal circulating igg level abnormal circulating igm level abnormal circulating inhibin level abnormal circulating insulin level abnormal circulating isoleucine concentration abnormal circulating leucine concentration abnormal circulating lipid concentration abnormal circulating lysine concentration abnormal circulating metabolite concentration abnormal circulating methionine concentration abnormal circulating na concentration abnormal circulating neopterin concentration abnormal circulating nicotinurate concentration abnormal circulating nicotinurate level abnormal circulating nucleobase concentration abnormal circulating oestrogen level abnormal circulating ornithine concentration abnormal circulating osteocalcin level abnormal circulating phenylalanine concentration abnormal circulating phospholipid concentration abnormal circulating polysaccharide concentration abnormal circulating porphyrin concentration abnormal circulating prealbumin concentration abnormal circulating pregnenolone concentration abnormal circulating progesterone level abnormal circulating proline concentration abnormal circulating properdin level abnormal circulating prostaglandin circulation abnormal circulating protein concentration abnormal circulating protein level abnormal circulating purine concentration abnormal circulating purine level abnormal circulating pyrimidine concentration abnormal circulating sarcosine concentration abnormal circulating selenium concentration abnormal circulating serine concentration abnormal circulating t4 level abnormal circulating testosterone concentration abnormal circulating threonine concentration abnormal circulating thromboxane concentration abnormal circulating thyroglobulin level abnormal circulating thyrotropin concentration abnormal circulating thyroxine level abnormal circulating transferrin concentration abnormal circulating transferrin level abnormal circulating tryptophan concentration abnormal circulating tyrosine concentration abnormal circulating valine concentration abnormal coeliac artery morphology abnormal compact bone morphology abnormal complement of teeth abnormal conjugate eye movement abnormal conus medullaris morphology abnormal conus terminalis morphology abnormal cord blood measurement abnormal corneal endothelium morphology abnormal corneal epithelium morphology abnormal coronary artery course abnormal coronary artery morphology abnormal coronary artery origin abnormal coronary artery physiology abnormal coronary sinus morphology abnormal corpus callosum morphology abnormal corpus striatum morphology abnormal cortical bone morphology abnormal cranial nerve morphology abnormal cranial nerve physiology abnormal craniofacial muscle tone abnormal cricoid cartilage morphology abnormal csf alanine concentration abnormal csf albumin concentration abnormal csf amyloid level abnormal csf arginine concentration abnormal csf aspartate concentration abnormal csf biopterin level abnormal csf carnosine concentration abnormal csf citrulline concentration abnormal csf dopamine level abnormal csf glucose level abnormal csf glutamate concentration abnormal csf glutamine concentration abnormal csf glycine concentration abnormal csf histidine concentration abnormal csf homocarnosine concentration abnormal csf isoleucine concentration abnormal csf lactate level abnormal csf leucine concentration abnormal csf lysine concentration abnormal csf metabolite concentration abnormal csf metabolite level abnormal csf methionine concentration abnormal csf neopterin level abnormal csf ornithine concentration abnormal csf phenylalanine concentration abnormal csf protein level abnormal csf serine concentration abnormal csf threonine concentration abnormal csf tryptophan concentration abnormal csf tyrosine concentration abnormal csf urate concentration abnormal csf valine concentration abnormal cystatin c level abnormal dendritic cell count abnormal dense granule content abnormal dense tubular system abnormal dental enamel morphology abnormal dental pulp morphology abnormal dental root morphology abnormal dentate nucleus morphology abnormal dermatoglyphic on foot abnormal dermatoglyphics on feet abnormal dermoepidermal hemidesmosome morphology abnormal dermoepidermal junction morphology abnormal descemet membrane morphology abnormal descend aorta morphology abnormal descending aorta morphology abnormal distribution of hair abnormal dn treg distribution abnormal dura mater morphology abnormal elasticity of skin abnormal erythrocyte enzyme level abnormal erythrocyte sedimentation rate abnormal exocrine pancreatic function abnormal extraocular muscle physiology abnormal facial artery morphology abnormal facial muscle tone abnormal facial vein morphology abnormal factor ix activity abnormal factor v activity abnormal factor viii activity abnormal fallopian tube morphology abnormal fecal test result abnormal female external genitalia abnormal femoral head morphology abnormal femoral neck morphology abnormal finger chase test abnormal finger flexion crease abnormal finger flexion creases abnormal finger phalanx morphology abnormal foot bone ossification abnormal foramen magnum morphology abnormal forearm bone morphology abnormal form of ear abnormal form of ears abnormal fourth ventricle morphology abnormal functional residual capacity abnormal fundus autofluorescence imaging abnormal fundus fluorescein angiography abnormal gastrointestinal transit time abnormal genital system morphology abnormal germ cell morphology abnormal gi transit time abnormal glial cell morphology abnormal globus pallidus morphology abnormal glomerular capillary morphology abnormal glomerular filtration rate abnormal glomerular mesangial cellularity abnormal glomerular mesangium morphology abnormal glossopharyngeal nerve morphology abnormal gmp pyrophosphorylase level abnormal granulocytopoietic cell morphology abnormal growth hormone level abnormal hair laboratory examination abnormal hand bone ossification abnormal hard palate morphology abnormal hdl cholesterol concentration abnormal hdl subfraction concentration abnormal heart rate variability abnormal heart valve morphology abnormal heart valve physiology abnormal hepatic glycogen storage abnormal hepatic iron concentration abnormal hip bone morphology abnormal hip joint morphology abnormal horizontal ocular pursuit abnormal hyoglossus muscle morphology abnormal iliac wing morphology abnormal immune system morphology abnormal index finger bone abnormal index finger bones abnormal indocyanine green angiography abnormal innermost thumb bone abnormal innermost toe bone abnormal interatrial septum morphology abnormal interlobular artery morphology abnormal interlobular vein morphology abnormal interventricular septum morphology abnormal intramembranous bone ossification abnormal intrarenal artery morphology abnormal intrarenal vein morphology abnormal involuntary eye movement abnormal involuntary eye movements abnormal ishihara plate test abnormal jugular vein morphology abnormal jugular venous pressure abnormal kinetic perimetry test abnormal labia majora morphology abnormal labia minora morphology abnormal labium majora morphology abnormal labium minora morphology abnormal lacrimal artery morphology abnormal lacrimal duct morphology abnormal lacrimal gland morphology abnormal lacrimal punctum morphology abnormal lacrimal sac morphology abnormal lactate dehydrogenase level abnormal langerhans cell morphology abnormal large intestine morphology abnormal large intestine physiology abnormal lateral ventricle morphology abnormal ldl cholesterol concentration abnormal leave atrium morphology abnormal leave hemidiaphragm morphology abnormal leave ventricle morphology abnormal leave ventricular function abnormal left atrium morphology abnormal left hemidiaphragm morphology abnormal left ventricle morphology abnormal left ventricular function abnormal level of paf abnormal level of phospholipid abnormal level of phospholipids abnormal lingual artery morphology abnormal lingual nerve morphology abnormal liver function test abnormal liver function tests abnormal liver iron concentration abnormal liver iron level abnormal liver parenchyma morphology abnormal lobe of ear abnormal localisation of kidney abnormal localisation of kidneys abnormal localization of kidney abnormal location of ear abnormal location of ears abnormal location of eyebrow abnormal location of eyebrows abnormal lumbar spine morphology abnormal lung auscultation find abnormal lung auscultation finding abnormal lung parenchyma morphology abnormal luteinizing hormone level abnormal lymph node histology abnormal lymphatic vessel morphology abnormal macroscopic urine appearance abnormal mandibular ramus morphology abnormal mandibular symphysis morphology abnormal mast cell morphology abnormal maternal serum screening abnormal maturation of breastbone abnormal mean corpuscular haemoglobin abnormal mean corpuscular volume abnormal metabolic cart test abnormal metaphyseal vascular invasion abnormal middle ear reflex abnormal middle ear reflexes abnormal mitochondria in muscle abnormal mitochondrion in muscle abnormal mitral valve morphology abnormal mitral valve physiology abnormal morphology of ulna abnormal motor evoke potential abnormal motor evoked potentials abnormal motor neuron morphology abnormal mouth floor morphology abnormal muscle fiber desmin abnormal muscle fiber dysferlin abnormal muscle fiber emerin abnormal muscle fiber morphology abnormal muscle fiber myotilin abnormal muscle fibre desmin abnormal muscle fibre dysferlin abnormal muscle fibre emerin abnormal muscle fibre morphology abnormal muscle fibre myotilin abnormal muscle glycogen content abnormal myeloid cell morphology abnormal myeloid leukocyte morphology abnormal nasal bridge morphology abnormal nasal mucosa morphology abnormal nasal mucus secretion abnormal nasolacrimal system morphology abnormal nasopharyngeal adenoid morphology abnormal nerve conduction study abnormal nerve conduction velocities abnormal nerve conduction velocity abnormal nervous system electrophysiology abnormal nervous system morphology abnormal nervous system physiology abnormal neural tube morphology abnormal neurilemmal cell morphology abnormal neutrophil cell number abnormal nk cell count abnormal number of incisor abnormal number of incisors abnormal number of lymphocyte abnormal number of lymphocytes abnormal number of teeth abnormal number of tubercle abnormal number of tubercles abnormal number of vertebra abnormal number of vertebrae abnormal numbers of lymphocytes abnormal oblique muscle physiology abnormal occipital bone morphology abnormal ocular adnexa morphology abnormal ocular adnexa physiology abnormal odontoid tissue morphology abnormal of nasal shape abnormal onset of bleed abnormal onset of bleeding abnormal optical coherence tomography abnormal oral cavity morphology abnormal oral frenulum morphology abnormal oral glucose tolerance abnormal oral mucosa morphology abnormal palmar dermal ridge abnormal palmar dermal ridges abnormal pancreatic duct morphology abnormal paranasal sinus morphology abnormal parietal bone morphology abnormal parotid gland morphology abnormal partial thromboplastin time abnormal pattern of respiration abnormal pectoral muscle morphology abnormal pelvis bone morphology abnormal pelvis bone ossification abnormal peripheral nerve transmission abnormal peritubular capillary morphology abnormal permanent tooth count abnormal phosphoribosylpyrophosphate synthetase level abnormal pineal melatonin secretion abnormal placental membrane morphology abnormal plasma cell count abnormal platelet granule secretion abnormal platelet lysosome secretion abnormal platelet phosphatidylserine exposure abnormal pns synaptic transmission abnormal posterior segment imaging abnormal preimplantation embryonic development abnormal print on foot abnormal prints on feet abnormal pulmonary artery morphology abnormal pulmonary artery physiology abnormal pulmonary fissure architecture abnormal pulmonary fissure count abnormal pulmonary fissure morphology abnormal pulmonary function test abnormal pulmonary interstitial morphology abnormal pulmonary situs morphology abnormal pulmonary valve morphology abnormal pulmonary valve physiology abnormal pulmonary vein morphology abnormal pulmonary vein physiology abnormal pupillary light reflex abnormal radial artery morphology abnormal rectus muscle physiology abnormal red nucleus morphology abnormal renal arteriole morphology abnormal renal artery morphology abnormal renal calyx morphology abnormal renal corpuscle morphology abnormal renal cortex morphology abnormal renal corticomedullary differentiation abnormal renal glomerulus morphology abnormal renal insterstitial morphology abnormal renal medulla morphology abnormal renal pelvis morphology abnormal renal tubule morphology abnormal renal vascular morphology abnormal reproductive system morphology abnormal respiratory epithelium morphology abnormal respiratory system morphology abnormal respiratory system physiology abnormal retinal artery morphology abnormal retinal vascular morphology abnormal rib cage morphology abnormal right atrium morphology abnormal right hemidiaphragm morphology abnormal right ventricle morphology abnormal right ventricular function abnormal saccadic eye movement abnormal saccadic eye movements abnormal sacroiliac joint morphology abnormal salivary cortisol level abnormal salivary gland morphology abnormal salivary metabolite concentration abnormal schwann cell morphology abnormal sebaceous gland morphology abnormal second heart sound abnormal sella turcica morphology abnormal sense of smell abnormal serum androstenolone level abnormal serum anion gap abnormal serum bicarbonate concentration abnormal serum cobalamin level abnormal serum dehydroepiandrosterone level abnormal serum hco3 concentration abnormal serum il level abnormal serum immunoglobulin concentration abnormal serum immunoglobulin level abnormal serum immunoglobulin levels abnormal serum interferon level abnormal serum interleukin level abnormal serum iron concentration abnormal serum methylfolate level abnormal serum selenium concentration abnormal serum testosterone level abnormal shape of brain abnormal shape of brainstem abnormal shape of cartilage abnormal shape of forebrain abnormal shape of gallbladder abnormal shape of hand abnormal shape of hindbrain abnormal shape of hypothalamus abnormal shape of joint abnormal shape of joints abnormal shape of midbrain abnormal shape of platelet abnormal shape of platelets abnormal shape of sperm abnormal shape of tendon abnormal shape of thalamus abnormal sharpey fiber morphology abnormal sharpey fibre morphology abnormal skeletal muscle morphology abnormal skinfold thickness measurement abnormal soft palate morphology abnormal specific antibody response abnormal sperm axoneme morphology abnormal sperm head morphology abnormal sperm neck morphology abnormal sperm tail morphology abnormal spinal meningeal morphology abnormal static perimetry test abnormal stool urobilinogen concentration abnormal subarachnoid space morphology abnormal subclavian artery morphology abnormal substantia nigra morphology abnormal superoxide dismutase level abnormal susceptibility to fracture abnormal susceptibility to fractures abnormal sweat gland morphology abnormal systemic arterial morphology abnormal systemic artery morphology abnormal systemic blood pressure abnormal t - wave abnormal t cell activation abnormal t cell count abnormal t cell morphology abnormal t cell proliferation abnormal t lymphocyte activation abnormal temporal bone morphology abnormal third ventricle morphology abnormal thoracic duct morphology abnormal thoracic spine morphology abnormal thyroid hormone level abnormal tissue metabolite concentration abnormal trabecular bone morphology abnormal trabecular meshwork morphology abnormal tracheal cartilaginous ring abnormal transferrin isoelectric focusing abnormal triceps skinfold thickness abnormal tricuspid valve morphology abnormal tricuspid valve physiology abnormal trigeminal nerve morphology abnormal type ii collagen abnormal umbilical stump bleeding abnormal upper limb muscle abnormal upper limb muscles abnormal urinary acylglycine profile abnormal urinary copper concentration abnormal urinary electrolyte concentration abnormal urinary isobutyrylglycine level abnormal urinary isobutyrylglycine levels abnormal urinary mineral level abnormal urinary nucleobase concentration abnormal urinary purine level abnormal urinary pyrimidine level abnormal urinary sulfate concentration abnormal urinary sulphate concentration abnormal urine carbohydrate level abnormal urine chloride concentration abnormal urine citrate concentration abnormal urine cl concentration abnormal urine hexanoylglycine concentration abnormal urine hormone level abnormal urine isobutyrylglycine concentration abnormal urine k concentration abnormal urine magnesium concentration abnormal urine metabolite level abnormal urine na concentration abnormal urine na+ level abnormal urine na+ levels abnormal urine phosphate concentration abnormal urine potassium concentration abnormal urine protein level abnormal urine sodium concentration abnormal urine urobilinogen level abnormal va deferens morphology abnormal vas deferens morphology abnormal vas vasorum morphology abnormal vasa vasorum morphology abnormal vein of face abnormal vena cava morphology abnormal vena cava physiology abnormal ventricular myocardium morphology abnormal ventricular septum morphology abnormal vertebral artery morphology abnormal vertebral pedicle morphology abnormal vestibular saccule morphology abnormal vision evoke potential abnormal vision evoked potentials abnormal visual evoke potential abnormal visual evoke response abnormal visual evoked potential abnormal visual evoked responses abnormal visual field test abnormal vitamin b12 level abnormal vitreous humor morphology abnormal vitreous humour morphology abnormal vldl cholesterol concentration abnormal vocal cord morphology abnormal westergren sedimentation rate abnormal whorl of hair abnormal z disc morphology abnormal zona pellucida morphology abnormalities of arcuate arteries abnormalities of the fingers abnormalities of the hallux abnormalities of the toes abnormalities of the wrists abnormality glomerular mesangium morphology abnormality of abdomen morphology abnormality of abdomen structure abnormality of abdominal situs abnormality of adipose tissue abnormality of adrenal morphology abnormality of adrenal physiology abnormality of alanine metabolism abnormality of alp level abnormality of alveolar margin abnormality of angular artery abnormality of apophyseal joint abnormality of arcuate artery abnormality of arginine metabolism abnormality of asparagine metabolism abnormality of auricular lobule abnormality of axial muscle abnormality of axial muscles abnormality of b cell abnormality of b cells abnormality of baby teeth abnormality of bicuspid morphology abnormality of binocular vision abnormality of bladder morphology abnormality of blood circulation abnormality of blood vessel abnormality of blood vessels abnormality of body height abnormality of body weight abnormality of bone trabeculation abnormality of brain morphology abnormality of brainstem morphology abnormality of branchial apparatus abnormality of branchial arch abnormality of buccal mucosa abnormality of buccinator muscle abnormality of cachectin secretion abnormality of cachexin secretion abnormality of calf musculature abnormality of calvarial morphology abnormality of cardiac conduction abnormality of cardiac morphology abnormality of cardiac ventricle abnormality of carnosine metabolism abnormality of carotid artery abnormality of cartilage morphology abnormality of cation homeostasis abnormality of cell physiology abnormality of cerebral artery abnormality of cerebral vein abnormality of cerebral veins abnormality of cerebrosidase metabolism abnormality of cervical musculature abnormality of cervical plexus abnormality of cervical vertebra abnormality of cheek mucosa abnormality of chemokine secretion abnormality of chloride homeostasis abnormality of cholesterol metabolism abnormality of chorioretinal pigmentation abnormality of chromosome condensation abnormality of chromosome segregation abnormality of chromosome stability abnormality of ciliary ganglion abnormality of circulate fibrinogen abnormality of circulating fibrinogen abnormality of cns electrophysiology abnormality of color vision abnormality of colour vision abnormality of complement system abnormality of connective tissue abnormality of corneal endothelium abnormality of corneal epithelium abnormality of corneal shape abnormality of corneal size abnormality of corneal stroma abnormality of corneal thickness abnormality of corpus cavernosum abnormality of cortical bone abnormality of cranial base abnormality of cranial ganglion abnormality of cranial nerve abnormality of cranial suture abnormality of cranial sutures abnormality of cranial vault abnormality of craniofacial shape abnormality of cranium shape abnormality of cranium size abnormality of creatine metabolism abnormality of cricoid cartilage abnormality of cytokine secretion abnormality of deciduous teeth abnormality of dental color abnormality of dental colour abnormality of dental enamel abnormality of dental eruption abnormality of dental morphology abnormality of dental shade abnormality of dental shape abnormality of dental structure abnormality of dentoalveolar ridge abnormality of dentoalveolar ridges abnormality of dermal melanosomes abnormality of dna repair abnormality of ear lobe abnormality of epidermal morphology abnormality of epiphysis morphology abnormality of esophagus physiology abnormality of esophagus structure abnormality of ethmoid bone abnormality of ethmoid sinus abnormality of eye movement abnormality of eye tooth abnormality of eyeball location abnormality of eyeball position abnormality of eyeball size abnormality of facial artery abnormality of facial bone abnormality of facial bones abnormality of facial fat abnormality of facial muscle abnormality of facial muscles abnormality of facial musculature abnormality of facial skeleton abnormality of facial vein abnormality of fat tissue abnormality of fatty tissue abnormality of femoral epiphysis abnormality of femur morphology abnormality of fibula morphology abnormality of fibular epiphyses abnormality of fibular epiphysis abnormality of fluid regulation abnormality of folate metabolism abnormality of forearm bone abnormality of forebrain morphology abnormality of foveal pigmentation abnormality of frontal sinus abnormality of fundus pigmentation abnormality of galactoside metabolism abnormality of gastrointestinal vasculature abnormality of genioglossus muscle abnormality of geniohyoid muscle abnormality of genital physiology abnormality of gi vasculature abnormality of globe location abnormality of globe position abnormality of globe size abnormality of glossopharyngeal nerve abnormality of glutamate metabolism abnormality of glycolipid metabolism abnormality of glycosaminoglycan metabolism abnormality of glycoside metabolism abnormality of glycosphingolipid metabolism abnormality of gnrh level abnormality of gum ridge abnormality of hair color abnormality of hair colour abnormality of hair consistency abnormality of hair density abnormality of hair growth abnormality of hair pigmentation abnormality of hair texture abnormality of hair volume abnormality of head shape abnormality of head size abnormality of heart atrium abnormality of hindbrain morphology abnormality of hippocampus morphology abnormality of histidine metabolism abnormality of humoral immunity abnormality of hyoglossus muscle abnormality of hyoid bone abnormality of hypothalamus morphology abnormality of icosanoid metabolism abnormality of il secretion abnormality of incisor morphology abnormality of index finger abnormality of infraorbital artery abnormality of interferon secretion abnormality of interleukin secretion abnormality of intracranial pressure abnormality of ion homeostasis abnormality of iron homeostasis abnormality of jaw muscle abnormality of jaw muscles abnormality of joint mobility abnormality of jugular vein abnormality of lacrimal artery abnormality of lacrimal sac abnormality of lateral ventricle abnormality of lens position abnormality of lens shape abnormality of limb bone abnormality of lingual artery abnormality of lingual frenum abnormality of lingual movement abnormality of lingual muscle abnormality of lingual nerve abnormality of lingual tonsil abnormality of liposaccharide metabolism abnormality of lobulus auricula abnormality of lobulus auriculae abnormality of low eyelash abnormality of low lip abnormality of low pharynx abnormality of lower eyelashes abnormality of lower lip abnormality of lower pharynx abnormality of lung artery abnormality of lung structure abnormality of lung vein abnormality of lung veins abnormality of lymphocyte number abnormality of lysine metabolism abnormality of lysosomal metabolism abnormality of macular pigmentation abnormality of macular vasculature abnormality of magnesium homeostasis abnormality of malar bone abnormality of malar bones abnormality of mandible symphysis abnormality of mandibular ramus abnormality of masseter muscle abnormality of mast cell abnormality of mast cells abnormality of masticatory muscle abnormality of mentalis muscle abnormality of mesentery morphology abnormality of metacarpal epiphyses abnormality of metacarpal epiphysis abnormality of metacarpophalangeal joint abnormality of metatarsal epiphysis abnormality of methionine metabolism abnormality of midbrain morphology abnormality of milk teeth abnormality of mitochondrial metabolism abnormality of molar morphology abnormality of mouth shape abnormality of mouth size abnormality of mucopolysaccharide metabolism abnormality of muscle fiber abnormality of muscle fibers abnormality of muscle fibre abnormality of muscle fibres abnormality of muscle morphology abnormality of muscle physiology abnormality of muscle size abnormality of musculoskeletal physiology abnormality of musculus uvula abnormality of musculus uvulae abnormality of myeloid leukocyte abnormality of myeloid leukocytes abnormality of mylohyoid muscle abnormality of nail color abnormality of nail colour abnormality of nasal hair abnormality of nasal musculature abnormality of nasalis muscle abnormality of nasopharyngeal adenoid abnormality of nasopharyngeal adenoids abnormality of nasopharyngeal tonsil abnormality of neuromuscular transmission abnormality of neuronal migration abnormality of neurotransmitter metabolism abnormality of neutrophil morphology abnormality of neutrophil physiology abnormality of nose hair abnormality of occipitofrontalis muscle abnormality of ocular abduction abnormality of odontoid tissue abnormality of oesophagus physiology abnormality of oesophagus structure abnormality of ophthalmic artery abnormality of oral frenula abnormality of oral frenum abnormality of oral mucosa abnormality of pain sensation abnormality of palatine uvula abnormality of palatoglossus muscle abnormality of palatopharyngeus muscle abnormality of pancreas morphology abnormality of pancreas physiology abnormality of parotid gland abnormality of periauricular region abnormality of peripheral nerve abnormality of peripheral nerves abnormality of pharyngeal musculature abnormality of pharyngeal tonsil abnormality of pharynx musculature abnormality of phenylalanine metabolism abnormality of phosphate homeostasis abnormality of pineal morphology abnormality of pineal physiology abnormality of placental membrane abnormality of placental membranes abnormality of polymorphonuclear neutrophil abnormality of polymorphonuclear neutrophils abnormality of potassium homeostasis abnormality of premolar morphology abnormality of primary teeth abnormality of procerus muscle abnormality of pulmonary circulation abnormality of pulmonary situs abnormality of radial diaphysis abnormality of radial epiphyses abnormality of radial epiphysis abnormality of radial metaphyses abnormality of radial ray abnormality of redox activity abnormality of renal excretion abnormality of renal physiology abnormality of renal resorption abnormality of respiratory circulation abnormality of retinal arteries abnormality of retinal artery abnormality of retinal pigmentation abnormality of risorius muscle abnormality of sharpey fiber abnormality of sharpey fibers abnormality of sharpey fibre abnormality of sharpey fibres abnormality of shoulder musculature abnormality of sinus frontalis abnormality of skeletal maturation abnormality of skeletal morphology abnormality of skin morphology abnormality of skin physiology abnormality of skin pigmentation abnormality of skull ossification abnormality of skull shape abnormality of skull size abnormality of sodium homeostasis abnormality of stapedial reflex abnormality of styloglossus muscle abnormality of superoxide metabolism abnormality of t cell abnormality of t cells abnormality of taste sensation abnormality of tear production abnormality of teeth space abnormality of teeth spacing abnormality of temperature regulation abnormality of temperature sensation abnormality of temporalis muscle abnormality of thalamus morphology abnormality of the abdomen abnormality of the acetabulum abnormality of the ankle abnormality of the ankles abnormality of the antihelix abnormality of the antitragus abnormality of the anus abnormality of the aorta abnormality of the arachnoidea abnormality of the arm abnormality of the astrocyte abnormality of the astrocytes abnormality of the auricle abnormality of the backbone abnormality of the bladder abnormality of the brain abnormality of the brainstem abnormality of the breast abnormality of the bronchi abnormality of the bronchus abnormality of the calcaneus abnormality of the calf abnormality of the calvaria abnormality of the cementum abnormality of the cerebellum abnormality of the cerebrum abnormality of the cheek abnormality of the cheekbone abnormality of the cheeks abnormality of the chest abnormality of the chin abnormality of the choanae abnormality of the choroid abnormality of the clavicle abnormality of the clit abnormality of the clitoris abnormality of the clivus abnormality of the coccyx abnormality of the columella abnormality of the cornea abnormality of the countenance abnormality of the csf abnormality of the dentition abnormality of the diaphragm abnormality of the diaphyses abnormality of the diaphysis abnormality of the diencephalon abnormality of the duodenum abnormality of the ear abnormality of the eardrum abnormality of the elbow abnormality of the elbows abnormality of the endocardium abnormality of the endometrium abnormality of the endomycoardium abnormality of the epididymis abnormality of the epiglottis abnormality of the epiphyses abnormality of the epiphysis abnormality of the eye abnormality of the eyebrow abnormality of the eyelash abnormality of the eyelashes abnormality of the eyelid abnormality of the eyelids abnormality of the face abnormality of the fascia abnormality of the feet abnormality of the femora abnormality of the femur abnormality of the finger abnormality of the fingernail abnormality of the fingernails abnormality of the fingertip abnormality of the fingertips abnormality of the foot abnormality of the forearm abnormality of the forebrain abnormality of the forehead abnormality of the fovea abnormality of the fundus abnormality of the gallbladder abnormality of the gingiva abnormality of the glabella abnormality of the globe abnormality of the gum abnormality of the gums abnormality of the hair abnormality of the hairline abnormality of the hallux abnormality of the hand abnormality of the head abnormality of the heart abnormality of the helix abnormality of the hemidiaphragms abnormality of the hindbrain abnormality of the hip abnormality of the hips abnormality of the humeri abnormality of the humerus abnormality of the hypothalamus abnormality of the ileum abnormality of the ilium abnormality of the incisor abnormality of the incus abnormality of the integument abnormality of the intestine abnormality of the iris abnormality of the ischium abnormality of the jejunum abnormality of the joint abnormality of the joints abnormality of the kidney abnormality of the knee abnormality of the knuckle abnormality of the labia abnormality of the labium abnormality of the larynx abnormality of the leg abnormality of the lens abnormality of the lip abnormality of the liver abnormality of the lung abnormality of the lungs abnormality of the macula abnormality of the malleus abnormality of the mandible abnormality of the mastoid abnormality of the maxilla abnormality of the mediastinum abnormality of the meninges abnormality of the menton abnormality of the mesencephalon abnormality of the mesentery abnormality of the metaphysis abnormality of the metencephalon abnormality of the microglia abnormality of the midbrain abnormality of the midface abnormality of the mitochondrion abnormality of the mouth abnormality of the musculature abnormality of the myencephalon abnormality of the myocardium abnormality of the nail abnormality of the nares abnormality of the naris abnormality of the nasopharynx abnormality of the neck abnormality of the neostriatum abnormality of the nephron abnormality of the neurohypophysis abnormality of the nipple abnormality of the nose abnormality of the nostril abnormality of the nostrils abnormality of the olecranon abnormality of the oligodendroglia abnormality of the ovaries abnormality of the ovary abnormality of the palate abnormality of the palm abnormality of the pancreas abnormality of the patella abnormality of the penis abnormality of the pericardium abnormality of the periodontium abnormality of the periosteum abnormality of the peritoneum abnormality of the phalanges abnormality of the phalanx abnormality of the pharynx abnormality of the philtrum abnormality of the physiognomy abnormality of the pinna abnormality of the placenta abnormality of the pleura abnormality of the pons abnormality of the premaxilla abnormality of the preputium abnormality of the prostate abnormality of the pubis abnormality of the pupil abnormality of the pylorus abnormality of the radius abnormality of the rectum abnormality of the retina abnormality of the rib abnormality of the ribs abnormality of the sacrum abnormality of the scalp abnormality of the scaphoid abnormality of the sclera abnormality of the scrotum abnormality of the shankbone abnormality of the shinbone abnormality of the shoulder abnormality of the sinew abnormality of the sinus abnormality of the sinuses abnormality of the skin abnormality of the skull abnormality of the skullcap abnormality of the spine abnormality of the spleen abnormality of the stapes abnormality of the sternum abnormality of the stomach abnormality of the striatum abnormality of the synovia abnormality of the teeth abnormality of the telencephalon abnormality of the testis abnormality of the thalamus abnormality of the thighbone abnormality of the thorax abnormality of the thumb abnormality of the thumbs abnormality of the thymus abnormality of the toe abnormality of the toenail abnormality of the toenails abnormality of the tongue abnormality of the tonsil abnormality of the tonsils abnormality of the trachea abnormality of the tragus abnormality of the trapezium abnormality of the ulna abnormality of the urachus abnormality of the ureter abnormality of the ureters abnormality of the urethra abnormality of the uterus abnormality of the uvea abnormality of the uvula abnormality of the vasculature abnormality of the velum abnormality of the vertebra abnormality of the vertebrae abnormality of the visage abnormality of the voice abnormality of the wrist abnormality of threonine metabolism abnormality of thumb epiphyses abnormality of thumb epiphysis abnormality of thumb phalanges abnormality of thumb phalanx abnormality of thyroid morphology abnormality of thyroid physiology abnormality of tibia morphology abnormality of tibial epiphyses abnormality of tibial epiphysis abnormality of tooth color abnormality of tooth colour abnormality of tooth eruption abnormality of tooth part abnormality of tooth pulp abnormality of tooth root abnormality of tooth shade abnormality of tooth structure abnormality of tryptophan metabolism abnormality of ulnar metaphysis abnormality of upper eyelash abnormality of upper eyelashes abnormality of upper lip abnormality of urine homeostasis abnormality of uvular muscle abnormality of vaginal lip abnormality of vaginal lips abnormality of valine metabolism abnormality of venous physiology abnormality of visual tracking abnormality of vitamin metabolism abnormality of vomer bone abnormality of zinc homeostasis abnormality of zygapophyseal joint abnormality of zygapophysial joint abnormally broad great toe abnormally broad great toes abnormally indent hip socket abnormally indented hip sockets abnormally low body temperature abnormally shape carpal bone abnormally shaped carpal bones abnormally shaped germ cell abnormally shaped reproductive cell abnormally shaped wrist bone abnormally shaped wrist bones abnormally small frontal sinus abnormally small parotid gland abnromal o2 blood concentration abort sudden cardiac death aborted sudden cardiac death abscess of the labia abscess of the labium absence of a tooth absence of acoustic reflex absence of adult molar absence of adult teeth absence of alpha granule absence of alpha granules absence of b cell absence of b cells absence of cd4+cd25+ tregs absence of corpus callosum absence of eye tooth absence of facial bone absence of facial bones absence of front tooth absence of frontal sinus absence of frontal sinuses absence of ganglioside gm3 absence of gnrh pulsatility absence of intrinsic factor absence of labia majora absence of labium majora absence of lateral incisor absence of low incisor absence of low jaw absence of low premolar absence of lower incisor absence of lower jaw absence of lower premolar absence of mandibular incisor absence of mandibular premolar absence of maxillary bicuspid absence of maxillary incisor absence of maxillary premolar absence of pain sensation absence of palpable testicules absence of paranasal sinus absence of paranasal sinuses absence of parotid duct absence of permanent molar absence of permanent teeth absence of pubertal development absence of sacrum ossification absence of scalp hair absence of sebaceous gland absence of sebaceous glands absence of secondary dentition absence of septum pellucidum absence of spontaneous respiration absence of stensen duct absence of subcutaneous fat absence of the colon absence of the maxilla absence of the premaxilla absence of the sacrum absence of tooth root absence of upper premolar absent - hypoplastic fibula absent - hypoplastic fibulae absent - hypoplastic ulna absent - hypoplastic ulnae absent / hypoplastic coccyx absent / hypoplastic metacarpal absent / hypoplastic metacarpals absent / hypoplastic metatarsal absent / hypoplastic metatarsals absent / hypoplastic nail absent / hypoplastic nails absent / hypoplastic patella absent / hypoplastic thumb absent / hypoplastic thumbs absent / hypoplastic tibia absent / hypoplastic toe absent / hypoplastic toes absent / rudimentary nipple absent / rudimentary nipples absent / small backbone absent / small biceps absent / small bladder absent / small brainstem absent / small breast absent / small breasts absent / small cerebellum absent / small cerebrum absent / small cochlea absent / small collarbone absent / small colon absent / small diaprhagm absent / small ear absent / small extremities absent / small extremity absent / small eye absent / small finger absent / small fingers absent / small fundus absent / small gallbladder absent / small iris absent / small kidney absent / small kneecap absent / small lens absent / small lung absent / small lungs absent / small nail absent / small nails absent / small nipple absent / small nipples absent / small ovary absent / small pancreas absent / small pelvis absent / small quadriceps absent / small radius absent / small retina absent / small rib absent / small ribs absent / small sacrum absent / small shankbone absent / small shinbone absent / small skeleton absent / small skin absent / small spine absent / small spleen absent / small sternum absent / small tailbone absent / small testes absent / small testis absent / small thighbone absent / small thumb absent / small thymus absent / small toe absent / small toenail absent / small toenails absent / small tragus absent / small triceps absent / small ulna absent / small uterus absent / small vagina absent / small vertebra absent / small vertebrae absent / underdevelop backbone absent / underdevelop biceps absent / underdevelop bladder absent / underdevelop brainstem absent / underdevelop breast absent / underdevelop cerebellum absent / underdevelop cerebrum absent / underdevelop cochlea absent / underdevelop collarbone absent / underdevelop colon absent / underdevelop diaprhagm absent / underdevelop ear absent / underdevelop extremity absent / underdevelop eye absent / underdevelop finger absent / underdevelop fovea absent / underdevelop gallbladder absent / underdevelop iris absent / underdevelop kidney absent / underdevelop kneecap absent / underdevelop lens absent / underdevelop lung absent / underdevelop macula absent / underdevelop nail absent / underdevelop nipple absent / underdevelop ovary absent / underdevelop pancreas absent / underdevelop pelvis absent / underdevelop quadriceps absent / underdevelop radius absent / underdevelop retina absent / underdevelop rib absent / underdevelop sacrum absent / underdevelop shankbone absent / underdevelop shinbone absent / underdevelop skeleton absent / underdevelop skin absent / underdevelop spine absent / underdevelop spleen absent / underdevelop sternum absent / underdevelop tailbone absent / underdevelop testis absent / underdevelop thighbone absent / underdevelop thumb absent / underdevelop thymus absent / underdevelop toe absent / underdevelop toenail absent / underdevelop tragus absent / underdevelop triceps absent / underdevelop uterus absent / underdevelop uvea absent / underdevelop vagina absent / underdevelop vertebra absent / underdeveloped backbone absent / underdeveloped biceps absent / underdeveloped bladder absent / underdeveloped brainstem absent / underdeveloped breasts absent / underdeveloped cerebellum absent / underdeveloped cerebrum absent / underdeveloped cochlea absent / underdeveloped collarbone absent / underdeveloped colon absent / underdeveloped diaprhagm absent / underdeveloped ear absent / underdeveloped extremities absent / underdeveloped eye absent / underdeveloped fingers absent / underdeveloped fovea absent / underdeveloped gallbladder absent / underdeveloped iris absent / underdeveloped kidney absent / underdeveloped kneecap absent / underdeveloped lens absent / underdeveloped lungs absent / underdeveloped macula absent / underdeveloped nails absent / underdeveloped nipples absent / underdeveloped ovary absent / underdeveloped pancreas absent / underdeveloped pelvis absent / underdeveloped quadriceps absent / underdeveloped radius absent / underdeveloped retina absent / underdeveloped ribs absent / underdeveloped sacrum absent / underdeveloped shankbone absent / underdeveloped shinbone absent / underdeveloped skeleton absent / underdeveloped skin absent / underdeveloped spine absent / underdeveloped spleen absent / underdeveloped sternum absent / underdeveloped tailbone absent / underdeveloped testes absent / underdeveloped thighbone absent / underdeveloped thumb absent / underdeveloped thymus absent / underdeveloped toe absent / underdeveloped toenails absent / underdeveloped tragus absent / underdeveloped triceps absent / underdeveloped uterus absent / underdeveloped uvea absent / underdeveloped vagina absent / underdeveloped vertebrae absent 2nd toe bone absent 2nd toe bones absent adolescent growth spurt absent aortic valve cusp absent aortic valve cusps absent big toe nail absent brainstem auditory response absent brainstem auditory responses absent bridge of nose absent carpal ossification center absent carpal ossification centre absent cartilage of nose absent circulate b cell absent circulating b cells absent cranial nerve viii absent crus of helix absent cupid 's bow absent deep tendon reflex absent deep tendon reflexes absent distal interphalangeal crease absent distal interphalangeal creases absent eccrine sweat gland absent eccrine sweat glands absent external auditory canal absent external auditory canals absent finger or toe absent fingers or toes absent humeral epiphyseal ossification absent index finger phalanges absent index finger phalanx absent inner dynein arm absent inner dynein arms absent innermost thumb bone absent innermost toe bone absent innermost toe bones absent internal auditory canal absent knee end part absent knee jerk reflex absent lacrimal gland puncta absent leukocyte alkaline phosphatase absent little toe bone absent little toe bones absent metacarpal ossification center absent metacarpal ossification centre absent middle ear bone absent middle ear bones absent middle ear ossicle absent middle ear ossicles absent middle ear reflex absent middle ear reflexes absent middle toe bone absent middle toe bones absent muscle dystrophin expression absent muscle fiber dysferlin absent muscle fiber emerin absent muscle fiber merosin absent muscle fibre dysferlin absent muscle fibre emerin absent muscle fibre merosin absent muscle since birth absent muscles since birth absent nail of hallux absent nasal septal cartilage absent natural killer cell absent natural killer cells absent neck of thighbone absent neutrophil specific granule absent neutrophil specific granules absent or hypoplastic metacarpal absent or hypoplastic metacarpals absent or hypoplastic metatarsal absent or hypoplastic patella absent or hypoplastic patellae absent or hypoplastic thumb absent or hypoplastic thumbs absent ossification of calvaria absent outer dynein arm absent outer dynein arms absent outermost digital bone absent outermost digital bones absent outermost hand bone absent palatine bone ossification absent pectoralis major muscle absent pigmentation of chest absent pinkie toe bone absent pinkie toe bones absent pinky toe bone absent pinky toe bones absent platelet dense bodies absent platelet dense body absent platelet dense granule absent platelet dense granules absent posterior alpha rhythm absent primary metaphyseal spongiosa absent proximal radial epiphyses absent proximal radial epiphysis absent pubertal growth spurt absent renal corticomedullary differentiation absent retinal pigment epithelium absent sense of taste absent specific antibody response absent sperm in semen absent upper lateral incisor absent upper lateral incisors absent vertebral body mineralization absolute lymphocyte count decrease accelerate ankle bone maturation accelerate carpal bone maturation accelerate wrist bone maturation accelerated ankle bone maturation accelerated carpal bone maturation accelerated wrist bone maturation accessory ectopic thyroid tissue accessory index finger phalanges accessory index finger phalanx acetylcholine receptor antibody positivity achalasia of the esophagus achalasia of the oesophagus acquire abnormal hair pattern acquired abnormal hair pattern acroosteolysis of distal phalanges acroosteolysis of distal phalanx acth - dependent hypercortisolemia acth - independent hypercortisolemia acth deficient adrenal insufficiency activate protein c resistance activated protein c resistance acute disseminate intravascular coagulation acute disseminated intravascular coagulation acute middle ear infection acute respiratory distress syndrome acute respiratory tract infection additional crus of antihelix adenocarcinoma of the colon adenocarcinoma of the intestine adenocarcinoma of the intestines adenoid small or absent adenoids small or absent adie 's tonic pupil adrenocorticotropin deficient adrenal insufficiency advanced carpal bone age advanced eruption of teeth advanced sclerotic lupus nephritis afro - textured hair against the rule astigmatism age - relate cataract age - related cataract ageneis of nasal septum agenesis of a tooth agenesis of central incisor agenesis of cerebellar vermis agenesis of corpus callosum agenesis of ethmoid sinus agenesis of ethmoid sinuses agenesis of facial bone agenesis of facial bones agenesis of lateral incisor agenesis of low eyelash agenesis of low incisor agenesis of lower eyelashes agenesis of lower incisor agenesis of mandibular incisor agenesis of mandibular premolar agenesis of maxillary bicuspid agenesis of maxillary incisor agenesis of maxillary premolar agenesis of nasal bridge agenesis of nasal cartilage agenesis of parotid duct agenesis of permanent dentition agenesis of permanent molar agenesis of permanent teeth agenesis of pineal gland agenesis of pulmonary vessel agenesis of pulmonary vessels agenesis of secondary dentition agenesis of secondary molar agenesis of stensen duct agenesis of the diaphragm agenesis of the gallbladder agenesis of the halluces agenesis of the hallux agenesis of the mandible agenesis of the maxilla agenesis of tooth root agenesis of upper eyelash agenesis of upper eyelashes aggressive / violent behavior aggressive / violent behaviour ala high than columella ala higher than columella ala low than columella ala lower than columella ala nasi , cleft ala nasi , thick ala nasi , underdevelop ala nasi , underdeveloped albers - schoenberg disease albers - schonberg disease albers - schönberg disease alcohol - induced rhabdomyolysis allergy to animal dander allergy to animal protein allergy to animal proteins allergy to dust mite allergy to dust mites allergy to insect bite allergy to insect bites allergy to meat allergen allergy to meat allergens allergy to plant product allergy to plant products alpha - aminoadipic aciduria alpha - aminobutyric aciduria alpha - gal allergy alpha - tocopherol deficiency alpha heavy chain disease altered sense of taste altitudinal visual field defect alveolar soft part sarcoma ama - m2 positive ambiguous genitalia , female ambiguous genitalia , male ambiguous genitalia in male ambiguous genitalia in males amino acid level abnormal amino acid levels abnormal ampulla of vater carcinoma amyloidosis of peripheral nerve amyloidosis of peripheral nerves amylose - amylopectin intolerance amyotrophy involve the extremity amyotrophy involve the thigh amyotrophy involving the extremities amyotrophy involving the thigh amyotrophy of ankle musculature amyotrophy of hand muscle amyotrophy of hand muscles anaemia of inadequate production anal canal squamous carcinoma anemia of inadequate production anesthetic - induced rhabdomylosis angel - shape phalanx angel - shaped phalanx angioectasias of the lip angioectasias of the mouth angioectasias of the tongue angioid streak , retina angioid streaks , retina angiolymphoid hyperplasia with eosinophilia angle class 2 malocclusion angle class 3 malocclusion ankylosis of temporomandibular joint anomalous coronary artery course anomalous pulmonary venous return anomalous splenoportal venous system anomaly of dental eruption anomaly of facial bone anomaly of facial bones anomaly of facial skeleton anomaly of mouth shape anomaly of mouth size anomaly of nasal base anomaly of nasal cartilage anomaly of nasal septum anomaly of the cheek anomaly of the cheeks anomaly of the chin anomaly of the columella anomaly of the epiphyses anomaly of the epiphysis anomaly of the esophagus anomaly of the face anomaly of the fontanelle anomaly of the fontanelles anomaly of the forehead anomaly of the gallbladder anomaly of the ischium anomaly of the joint anomaly of the joints anomaly of the mandible anomaly of the maxilla anomaly of the midface anomaly of the nares anomaly of the naris anomaly of the neck anomaly of the nose anomaly of the oesophagus anomaly of the rectum anomaly of the retina anomaly of the testes anomaly of the testis anomaly of tooth eruption antegonial notching of mandible anterior beaking of vertebra anterior beaking of vertebrae anterior bowing of tibia anterior cerebral artery stenosis anterior chamber cleavage defect anterior chamber cleavage disorder anterior chamber inflammatory cell anterior chamber inflammatory cells anterior chamber mesodermal anomalies anterior chamber mesodermal anomaly anterior crease of earlobe anterior creases of earlobe anterior cupping of rib anterior cupping of ribs anterior diastema of teeth anterior flaring of rib anterior flaring of ribs anterior flat head syndrome anterior horn cell disease anterior horn cell loss anterior radial head dislocation anterior rib punctate calcification anterior rib punctate calcifications anterior scallop vertebral body anterior scalloping vertebral bodies anterior segment developmental abnormality anterior segment mesencyhmal dysgenesis anterior segment ocular dysgenesis anterior wedging of l1 anterior wedging of l2 anterior wedging of t11 anterior wedging of t12 anteriorly displace papillary muscle anteriorly displace urethral meatus anteriorly displaced papillary muscles anteriorly displaced urethral meatus anteriorly place odontoid process anteriorly placed odontoid process anterolateral radial head dislocation anti - amphiphysin antibody anti - arhgap26 antibody anti - b2gpi positivity anti - ca antibody anti - caspr2 antibody anti - crmp5 antibody anti - cv2 antibody anti - dppx antibody anti - fgfr3 antibody anti - gad65 antibody anti - gephyrin antibody anti - gfap antibody anti - gluk2 antibody anti - glyr antibody anti - hmgcr autoantibodies anti - hmgcr autoantibody anti - hu antibody anti - iglon5 antibody anti - itpr1 antibody anti - keratinocyte transglutaminase anti - klhl11 antibody anti - kv1.4 antibody anti - lgi1 antibody anti - lrp4 antibody anti - ma antibody anti - ma1 antibody anti - ma2 antibody anti - map1b antibody anti - mglur1 antibody anti - mglur5 antibody anti - mnd antibodies anti - mnd antibody anti - musk antibodies anti - musk antibody anti - pkcgamma antibody anti - ri antibody anti - ryr antibody anti - sez6l2 antibody anti - smith autoantibody anti - sox1 antibody anti - ta antibody anti - tg3 antibody anti - titin antibody anti - trim46 antibody anti - yo antibody anti - zic4 antibody anticardiolipin igg antibody positivity anticardiolipin igm antibody positivity antidromic atrioventricular reentrant tachycardia antimongoloid slant palpebral fissure antimongoloid slanted palpebral fissures aortic elastic fiber disorganization aortic elastic fiber fragmentation aortic elastic fiber thinning aortic elastic fibre disorganisation aortic elastic fibre fragmentation aortic elastic fibre thin aortic elastic fibre thinning aortic laminar medial collapse aortic valve cusp calcification aortic valve leaflet calcification aorto - ventricular tunnel aphalangia of the toe aphalangia of the toes aphalangy of the hand aphalangy of the hands apically displace papillary muscle apically displaced papillary muscles aplasia involve forearm bone aplasia involving forearm bones aplasia of facial bone aplasia of facial bones aplasia of facial skeleton aplasia of frontal sinus aplasia of lacrimal puncta aplasia of low eyelash aplasia of lower eyelashes aplasia of lymphatic vessel aplasia of lymphatic vessels aplasia of metacarpal bone aplasia of metacarpal bones aplasia of nasal tip aplasia of paranasal sinus aplasia of paranasal sinuses aplasia of the bladder aplasia of the cervix aplasia of the colon aplasia of the epiglottis aplasia of the eyelid aplasia of the eyelids aplasia of the femur aplasia of the finger aplasia of the fingernail aplasia of the fingers aplasia of the foot aplasia of the fovea aplasia of the gallbladder aplasia of the hallux aplasia of the humerus aplasia of the labyrinth aplasia of the maxilla aplasia of the musculature aplasia of the nares aplasia of the naris aplasia of the nose aplasia of the ovaries aplasia of the ovary aplasia of the penis aplasia of the premaxilla aplasia of the radius aplasia of the retina aplasia of the sternum aplasia of the testes aplasia of the testis aplasia of the thumb aplasia of the thymus aplasia of the tibia aplasia of the toe aplasia of the toes aplasia of the ulna aplasia of the uterus aplasia of the vagina aplasia of the vestibule aplasia of tooth root aplasia of upper eyelash aplasia of upper eyelashes aplastic / hypoplastic halluces aplastic / hypoplastic hallux aplastic / hypoplastic metacarpal aplastic / hypoplastic metacarpals aplastic / hypoplastic metatarsal aplastic / hypoplastic metatarsals aplastic / hypoplastic phalanges aplastic / hypoplastic phalanx aplastic / hypoplastic tarsal aplastic / hypoplastic tarsals aplastic / hypoplastic thumb aplastic / hypoplastic thumbs aplastic / hypoplastic tibia aplastic / hypoplastic toenail aplastic / hypoplastic toenails aplastic or hypoplastic patella aplastic or hypoplastic patellae apneic episode in infancy apneic episodes in infancy aqueduct of sylvius stenosis arachnocytosis of the myocardium archibald 's metacarpal sign arcuate artery endoarterial hypercellularity arcuate artery intraluminal thrombi arcuate artery intraluminal thrombus arcuate vein intraluminal thrombi arcuate vein intraluminal thrombus arcuate vein medial atrophy arcuate vein medial hypertrophy areflexia , low limb areflexia , lower limbs areflexia in low limb areflexia in lower limbs areflexia of low limb areflexia of lower limbs areflexia of upper limb areflexia of upper limbs arnold - chiari malformation arterial cystic medial necrosis arterial disease of leg arterial disease of legs arterial tortuosity , general arterial tortuosity , generalise arterial tortuosity , generalised arterial tortuosity , generalize arterial tortuosity , generalized arthralgia of the hip arthritis of temporomandibular joint ascend tubular aorta aneurysm ascending tubular aorta aneurysm ash - leaf spot aspergillus infection , recurrent aspergillus infections , recurrent aspirin - induced asthma asymmetric abdominal aortic aneurysm asymmetric limb muscle stiffness asymmetric low limb shorten asymmetric low limb shortness asymmetric lower limb shortening asymmetric lower limb shortness asymmetric upper limb shorten asymmetric upper limb shortening asymmetrical horizontal gluteal crease asymmetry of intraocular pressure asymmetry of iris pigmentation asymmetry of low jaw asymmetry of lower jaw asymmetry of nasal tip asymmetry of oral cavity asymmetry of the breast asymmetry of the breasts asymmetry of the cornea asymmetry of the corneas asymmetry of the ear asymmetry of the ears asymmetry of the mandible asymmetry of the maxilla asymmetry of the mouth asymmetry of the nares asymmetry of the naris asymmetry of the pupil asymmetry of the pupils asymmetry of the thorax asymmetry of upper jaw atelectasis of paranasal sinus atherosclerosis of the aorta atherosclerotic change of aorta atherosclerotic changes of aorta atlanto - axial subluxation atony of facial musculature atopic dermatitis , chronic atresia of coronary ostium atresia of the rectum atretic external auditory canal atretic external auditory canals atretic transverse aortic arch atrial fibrillation , paroxysmal atrichia of low eyelash atrichia of lower eyelashes atrichia of upper eyelash atrichia of upper eyelashes atrophic , patchy alopecia atrophic superior cerebellar peduncle atrophy of alveolar margin atrophy of alveolar margins atrophy of alveolar ridge atrophy of alveolar ridges atrophy of cerebellar vermis atrophy of facial musculature atrophy of lingual surface atrophy of masseter muscle atrophy of sural nerve atrophy of the hippocampus atrophy of the hypothalamus atrophy of the tongue atrophy of tongue surface attention deficit hyperactivity disorder atypical absence status epilepticus atypical or prolonged hepatitis atypical petit mal seizure atypical petit mal seizures atypical position of finger atypical pulmonary carcinoid tumor atypical pulmonary carcinoid tumour atypical scarring of skin av nodal reentry tachycardia axillary apocrine gland hypoplasia axon degeneration and regeneration axonal degeneration / regeneration b - cell lymphoma b acute lymphoblastic leukaemia b acute lymphoblastic leukemia bacterial infection , recurrent bacterial infection of skin bacterial infections , recurrent balance double aortic arch balanced double aortic arch balloon degeneration of hepatocytes ballooning degeneration of hepatocytes barrel - shape chest barrel - shape tooth barrel - shaped chest barrel - shaped tooth beaking of vertebral bodies beaking of vertebral body beat bronze macular sheen beat metal macular appearance beaten bronze macular sheen beaten metal macular appearance behavioral / psychiatric abnormalities behavioral / psychiatric abnormality behavioural / psychiatric abnormality bell - shape chest bell - shape thorax bell - shaped chest bell - shaped thorax bending of the arm benign gastrointestinal tract tumor benign gastrointestinal tract tumors benign gastrointestinal tract tumour benign gastrointestinal tract tumours benign genitourinary tract neoplasm benign genitourinary tract tumor benign genitourinary tract tumour benign gi tract tumor benign gi tract tumors benign gi tract tumour benign gi tract tumours benign gu tract neoplasm beta - aminoisobutyric aciduria beta - cell dysfunction beta 2 - microglobulinuria bi - acromial dimple bi - acromial dimples biber haab dimmer dystrophy biconcave 'codfish ' vertebra biconcave 'codfish ' vertebrae bifid thumb distal phalanx bifid tip of nose bilateral absence of radius bilateral apical pulmonary fibrosis bilateral basal ganglia lesions bilateral basal ganglion lesion bilateral basilar pulmonary fibrosis bilateral conductive hearing impairment bilateral conductive hearing loss bilateral congenital sensorineural deafness bilateral coronal suture craniosynostosis bilateral coronal suture synostosis bilateral external ear deformity bilateral facial muscle paralysis bilateral facial muscle weakness bilateral fifth digit clinodactyly bilateral fifth finger clinodactyly bilateral fourth metatarsal shorten bilateral fourth metatarsal shortening bilateral lambdoid suture synostosis bilateral multifocal epileptiform discharge bilateral multifocal epileptiform discharges bilateral sensorineural hearing impairment bilateral sensorineural hearing loss bilateral superior vena cava bilateral vertebral artery hypoplasia bilateral vocal cord paralysis bilateral vocal cord paresis bilateral wrist flexion contracture biliary atresia , extrahepatic binucleated visceral epithelial cell binucleated visceral epithelial cells biopsy show villous atrophy biopsy shows villous atrophy bird - like facies birthweight > 90th percentile bitemporal aplasia cutis congenita blake 's pouch cyst bleb of oral mucosa blebs of oral mucosa bleed below the skin bleed from the eye bleed post - delivery bleed within a joint bleed within the skull bleeding below the skin bleeding from the eye bleeding post - delivery bleeding within a joint bleeding within the skull blind - end vagina blind - ended vagina blind - spot enlargment blindness present at birth blister with junctional split blistering by anatomical location blistering by histological location blistering with junctional split blood clot in artery blood clot in vein blood group antigen abnormality bloody bronchoalveolar lavage fluid blue - yellow dyschromatopsia blue yellow color blindness blue yellow colour blindness bone bone of jaw bone corpuscle fundus pigmentation bone distal tarsal bone bone epiphysis of femur bone head of femur bone loss around teeth bone low limb segment bone lower limb segment bone manual digit bone bone marrow foam cell bone marrow foam cells bone marrow maturation arrest bone metaphysis of femur bone orbit of skull bone phalanx of manus bone phalanx of pe bone phalanx of pes bone upper limb segment bony carotid canal agenesis bossing of parietal bone both side cleft lip both sided cleft lip bowing of long bone bowing of long bones bowing of the arm bowing of the humerus bowing of the leg bowing of the legs bowing of the tibia bowman capsular hyaline drop bowman capsular hyaline drops boxer 's nasal deformity boxer 's nose deformity brachydactyly of the foot brachydactyly of third toe brachydactyly of third toes brainstem hypoplasia / dysplasia branch - chain aminoaciduria branch retinal artery occlusion branch retinal vein occlusion branched - chain aminoaciduria breakdown of skeletal muscle breech presentation at birth brisk deep tendon reflex brisk deep tendon reflexes brisk low extremity reflex brisk lower extremity reflexes broad , arch eyebrow broad , arched eyebrows broad , upturned nose broad - base gait broad - based gait broad base of nose broad distal big toe broad dorsum of nose broad flat nasal bridge broad humeral epiphyseal plate broad innermost thumb bone broad innermost toe bone broad little finger bone broad little finger bones broad long bone diaphyses broad long bone diaphysis broad middle finger bone broad middle finger bones broad outermost finger bone broad outermost hand bone broad outermost hand bones broad pinkie finger bone broad pinkie finger bones broad pinky finger bone broad pinky finger bones broad radial epiphyseal plate broad secondary alveolar ridge broad septum of nose broad terminal thumb phalanx broad tip of nose broadening of femoral neck broken - heart syndrome bronchiolitis obliterans organise pneumonia bronchiolitis obliterans organising pneumonia bronchiolitis obliterans organize pneumonia bronchiolitis obliterans organizing pneumonia budd - chiari syndrome bulbous internal auditory canal bulbous tip of nose bulbous tip of toe bulbous tips of toes bulging of eye lens bull 's eye maculopathy bull 's eye rash bulla of oral mucosa bullae of oral mucosa bullous congenital ichthyosiform erythroderma bundle - branch block c1 - c2 subluxation c2 - c3 subluxation c3 nephritic factor positivity ca channel antibody positivity ca oxalate kidney stone ca2+ channel antibody positivity ca2+ oxalate kidney stone cafe au lait spot cafe au lait spots calcification of falx cerebri calcification of muscle tissue calcification of the aorta calcification of the trachea calcium channel antibody positivity calcium deposit in joint calcium deposits in joints calcium oxalate kidney stone calcium oxalate kidney stones camptodactyly of 2nd finger camptodactyly of index finger camptodactyly of middle finger camptodactyly of second finger cancer of connective tissue cancer of lymphatic system cancer of salivary gland cancer of the larynx cancer of the pancreas capitate - hamate fusion capitate - hamate fusions cardiomyopathy , right ventricular carp - like mouth carp - shape mouth carp - shaped mouth carpal and tarsal fusion carpal and tarsal fusions cartilaginous ossification of larynx cartilaginous ossification of nose cartilaginous ossification of pinna cartilaginous ossification of pinnae cartilaginous ossification of rib cat - like cry cataract , cortical pulverulent cataracts , cortical pulverulent catecholaminergic polymorphic ventricular tachycardia cave in nasal tip caved in nasal tip cd4 t cell lymphopenia cellular hypersensitivity to diepoxybutane cellulitis of low eyelid cellulitis of lower eyelid cellulitis of upper eyelid central cleft of nose central cleft upper lip central defect of nose central fundal arteriolar microaneurysms central nervous system cyst central nervous system degeneration central nervous system disease central nervous system infection central polydactyly of feet central polydactyly of foot central posterior corneal opacity central primitive neuroectodermal tumor central primitive neuroectodermal tumour central retinal artery occlusion central retinal vein occlusion central sinus of philtrum central venous sinus thrombosis cerebellar ataxia , progressive cerebellar granular layer atrophy cerebellar hypoplasia / atrophy cerebellar purkinje layer atrophy cerebellopontine angle arachnoid cyst cerebral atrophy , diffuse cerebral atrophy , frontotemporal cerebral calcification , nonarteriosclerotic cerebral white matter abnormalities cerebral white matter abnormality cerebral white matter agenesis cerebral white matter atrophy cerebral white matter hypoplasia cerebrospinal fluid protein increase cerebrospinal fluid protein increased cervical clear cell adenocarcinoma cervical cord compression myelopathy cervical spinal canal stenosis cervical spinal cord atrophy cervical spine joint hypermobility cervical spine segmentation defect cervical vertebral facet hypoplasia cessation of head growth chaotic multifocal atrial tachycardia cheiloschisis of upper lip cheyne - stokes breathe cheyne - stokes breathing cheyne - stokes respiration chilblain - like lesion chilblain - like toe chilblain - like toes chin , vertical crease chin with horizontal crease chin with horizontal furrow chin with horizontal groove chin with horizontal sulcus chin with vertical crease chin with vertical furrow chin with vertical groove chin with vertical sulcus chronic absent circulate igd chronic absent circulate ige chronic absent circulating igd chronic absent circulating ige chronic cerebrospinal fluid lymphocytosis chronic decrease circulate igd chronic decrease circulate ige chronic decrease circulate igg1 chronic decrease circulate igg3 chronic decrease circulate igg4 chronic decrease cirulating igg2 chronic decreased circulating igd chronic decreased circulating ige chronic decreased circulating igg1 chronic decreased circulating igg3 chronic decreased circulating igg4 chronic decreased cirulating igg2 chronic disseminate intravascular coagulation chronic disseminated intravascular coagulation chronic middle ear infection chronic monilial nail infection chronic nonhealing cutaneous wound chronic obstructive pulmonary disease chronic progressive external ophthalmoplegia chronic sural axonal neuropathy cigarette - paper scar cigarette - paper scars clasp - knife sign class i lupus nephritis class ii lupus nephritis class iii lupus nephritis class iv lupus nephritis class v lupus nephritis class vi lupus nephritis claw - hand deformities claw - hand deformity cleft in cranial base cleft in skull base cleft lip / palate cleft low alveolar ridge cleft lower alveolar ridge cleft of alveolar process cleft of gum ridge cleft of hard palate cleft of low gingiva cleft of lower gingiva cleft of mandibular gingiva cleft of soft palate cleft of the face cleft of the lip cleft of the mouth cleft of upper lip cleft roof of mouth cleft tip of nose clinically silent pituitary adenoma clinodactyly of fifth digit clinodactyly of second toe clinodactyly of second toes clinodactyly of the thumb clubbing ( hand ) clubbing ( hands ) cluster of axonal regeneration clusters of axonal regeneration coalescence of tarsal bone coalescence of tarsal bones coarctation of abdominal aorta coarctation of the aorta coarse trabeculation at metaphyses cobblestone - like hyperkeratosis cock - walk gait cognitive decline , progressive cold - induce sweating cold - induced hemolysis cold - induced sweating cold - sensitive myotonia colloid bodies of civatte colloid body of civatte coloboma of low eyelid coloboma of lower eyelid coloboma of optic nerve coloboma of the iris coloboma of the macula color vision test abnormality colour vision test abnormality columella , high insertion columella , low hanging columella , low insertion comma - shape scaphoid comma - shaped scaphoid common carotid artery dissection compensate disseminate intravascular coagulation compensated disseminated intravascular coagulation complement component 4a deficiency complement component 4b deficiency complete atrioventricular canal defect complete atrioventricular septal defect complete common av canal complete tracheal ring deformity complex palmar dermatoglyphic pattern compression - fracture vertebra compression - fractured vertebra compression fracture cervical vertebra compression fracture lumbar vertebra compression fracture thoracic vertebra compression fractured cervical vertebra compression fractured lumbar vertebra compression fractured thoracic vertebra compute tomographic halo sign computed tomographic halo sign conal ventricular septal defect concave bridge of nose concave dorsum of nose concha , extra fold cone - shaped epiphyses cone - shaped epiphysis cone shape front tooth cone shape maxillary incisor cone shaped front tooth cone shaped maxillary incisor coned epiphyses of hands coned epiphysis of hand congenital , generalise hypertrichosis congenital , generalised hypertrichosis congenital , generalize hypertrichosis congenital , generalized hypertrichosis congenital abnormal hair pattern congenital absence of breast congenital absence of foreskin congenital absence of muscle congenital absence of muscles congenital absence of skin congenital absence of uvula congenital adrenal gland hypoplasia congenital bilateral facial palsy congenital bilateral facial weakness congenital bilateral hip dislocation congenital bullous ichthyosiform erythroderma congenital cataract , bilateral congenital cataracts , bilateral congenital conductive hearing impairment congenital conductive hearing loss congenital decrease head circumference congenital decreased head circumference congenital droop upper eyelid congenital drooping upper eyelid congenital ductus arteriosus aneurysm congenital extraocular muscle anomaly congenital finger flexion contracture congenital finger flexion contractures congenital foot contraction deformities congenital foot contraction deformity congenital giant melanocytic nevus congenital localise skin absence congenital localised skin absence congenital localize skin absence congenital localized skin absence congenital nonbullous ichthyosiform erythroderma congenital portosystemic venous shunt congenital posterior occipital alopecia congenital posterior urethral valve congenital radial head dislocation congenital sensorineural hearing impairment congenital sensorineural hearing loss congenital shorten small intestine congenital shortened small intestine congenital small head circumference congenital stationary cone dysfunction congenital stationary night blindness congenital symmetrical palmoplantar keratosis conical maxillary lateral incisor conical maxillary lateral incisors conoid upper lateral incisor conoid upper lateral incisors conoventricular ventricular septal defect constrict helix type iv constricted helix type iv constriction of the bronchi constriction of the bronchus contracture , low limb contracture involve the hand contracture involve the toe contracture of elbow joint contracture of the ankle contracture of the elbow contracture of the hand contracture of the knee contracture of the toe contractures , lower limbs contractures involving the hands contractures involving the toes contractures of the ankles contractures of the elbows contractures of the hands contractures of the knees contractures of the toes conus terminalis arteriovenous malformation convex bridge of nose convex contour of sole convex dorsum of nose copper accumulation in brain copper accumulation in liver coppock - like cataract cornea - iris adhesion corneal erosion , recurrent corneal erosions , recurrent corner fracture of metaphysis coronal cleft of vertebra coronal cleft of vertebrae coronary artery sandwich anomaly cortical radial artery endotheliosis cortical radial artery hypercellularity cough with mucus production cramping of facial muscle cramping of facial muscles cranial nerve motor loss cranial nerve vi palsy cranial nerve vii palsy craniosynostosis , sagittal suture craniosynostosis of coronal suture crazy - paving pattern crescent - shape tooth crh deficient adrenal insufficiency crook dorsum of nose crooked dorsum of nose crooked septum of nose crooked tip of nose cross fused renal ectopia crossed fused renal ectopia crowd upper front teeth crowded upper front teeth csf autoimmune antibody positivity cup - shaped ear cup - shaped ears cupid bow upper lip curvature of 2nd toe curvature of 3rd toe curvature of 4th toe curvature of big toe curvature of index finger curvature of little finger curvature of middle finger curvature of pinkie finger curvature of pinky finger curvature of ring finger curve 2nd toe phalanx curve 3rd toe phalanx curve 4th toe phalanx curve 5th toe phalanx curve distal toe phalanx curve index finger bone curve innermost thumb bone curve innermost toe bone curve little finger bone curve little toe bone curve middle toe phalanx curve pinkie finger bone curve pinkie toe bone curve pinky finger bone curve pinky toe bone curve proximal toe phalanx curve ring finger bone curved 2nd toe phalanx curved 3rd toe phalanx curved 4th toe phalanx curved 5th toe phalanx curved distal toe phalanx curved index finger bones curved innermost thumb bone curved innermost toe bones curved little finger bone curved little toe bones curved middle toe phalanx curved pinkie finger bone curved pinkie toe bones curved pinky finger bone curved pinky toe bones curved proximal toe phalanx curved ring finger bone cutaneous 2,3 toe syndactyly cutaneous syndactyly of digit cutaneous syndactyly of digits cutaneous syndactyly of feet cutaneous syndactyly of finger cutaneous syndactyly of fingers cutaneous syndactyly of foot cutaneous syndactyly of hand cutaneous syndactyly of hands cutaneous syndactyly of toe cutaneous syndactyly of toes cutis gyrata of scalp cutis marmorata telangiectatica congenita cyst of eye socket cyst of the eyelid cystic adenomatoid lung disease cystic angiomatosis of bone cytoplasmic antineutrophil antibody positivity dagger shape pulp denticle dagger shape pulp stone dagger shaped pulp denticles dagger shaped pulp stones dandy - walker anomaly dandy - walker cyst dandy - walker malformation dark color of gum dark color of gums dark colour of gum dark colour of gums darken and thicken skin darken around the eye darkened and thickened skin darkening around the eyes darkening of the forehead darwin notch of helix darwin tubercle of helix deafness in one ear death of liver cell death of liver cells deceleration of head growth decrease ability to exercise decrease ability to sweat decrease adipose tissue percentage decrease antimullerian hormone level decrease apolipoprotein ai level decrease b cell count decrease beta galactosidase activity decrease blood alanine concentration decrease blood asparagine concentration decrease blood carnosine concentration decrease blood cystine concentration decrease blood drug concentration decrease blood glutamate concentration decrease blood glutamine concentration decrease blood histidine concentration decrease blood isoleucine concentration decrease blood leukocyte number decrease blood lymphocyte number decrease blood ornithine concentration decrease blood proline level decrease body fat percentage decrease body mass index decrease bone mineral density decrease breadth of face decrease breadth of philtrum decrease carpal joint angle decrease circulate acth level decrease circulate aldosterone level decrease circulate amylase level decrease circulate androgen concentration decrease circulate androgen level decrease circulate androstenedione concentration decrease circulate antibody level decrease circulate apolipoprotein concentration decrease circulate calcifediol concentration decrease circulate ceruloplasmin concentration decrease circulate cholesterol level decrease circulate chylomicron concentration decrease circulate chylomicron level decrease circulate copper concentration decrease circulate corticosterone level decrease circulate cortisol level decrease circulate dehydroepiandrosterone concentration decrease circulate dehydroepiandrosterone level decrease circulate dihydrotestosterone concentration decrease circulate ferritin concentration decrease circulate free t3 decrease circulate free triiodothyronine decrease circulate gaba concentration decrease circulate globulin level decrease circulate glycerol level decrease circulate gonadotropin concentration decrease circulate gonadotropin level decrease circulate hydroxyproline concentration decrease circulate iga level decrease circulate igg level decrease circulate igg1 level decrease circulate igg2 level decrease circulate igg3 level decrease circulate igg4 level decrease circulate osteocalcin level decrease circulate prealbumin concentration decrease circulate pth level decrease circulate purine concentration decrease circulate renin level decrease circulate selenium concentration decrease circulate t4 level decrease circulate taurine level decrease circulate tg level decrease circulate threonine level decrease circulate thyroxine level decrease circulate total iga decrease circulate total igg decrease circulate total igm decrease circumference of cranium decrease cranial base ossification decrease csf alanine concentration decrease csf albumin concentration decrease csf amyloid level decrease csf arginine concentration decrease csf biopterin level decrease csf glutamate concentration decrease csf glutamine concentration decrease csf histidine concentration decrease csf homovanillic acid decrease csf isoleucine concentration decrease csf leucine concentration decrease csf lysine concentration decrease csf neopterin level decrease csf phenylalanine concentration decrease csf serine concentration decrease csf threonine concentration decrease csf tyrosine concentration decrease csf valine concentration decrease cystatin c level decrease deep tendon reflex decrease dendritic spine number decrease depth of orbit decrease depth of philtrum decrease diameter of pharynx decrease diastolic blood pressure decrease distal touch sense decrease distal vibration sense decrease distance between eye decrease erythrocyte sedimentation rate decrease facial muscle movement decrease facial muscle strength decrease facial muscle tone decrease factor x activity decrease female sex drive decrease fertility in female decrease fertility in male decrease forced vital capacity decrease fumarate hydratase activity decrease glomerular filtration rate decrease glucosephosphate isomerase level decrease hdl cholesterol concentration decrease igd in blood decrease in amygdala volume decrease in jaw mobility decrease in jaw movement decrease in jaw opening decrease in mandibular mobility decrease in mandibular movement decrease in mandibular opening decrease inhibin b level decrease international normalised ratio decrease international normalized ratio decrease intestinal transit time decrease knee jerk reflex decrease ldl cholesterol concentration decrease level of paf decrease level of plasminogen decrease level of thrombomodulin decrease level of tpa decrease lipoprotein lipase level decrease maximal oxygen uptake decrease mean corpuscular haemoglobin decrease mean corpuscular volume decrease mean platelet volume decrease methionine synthase activity decrease mitochondrial malic enzyme decrease movement in utero decrease nasal nitric oxide decrease nerve conduction velocity decrease parathyroid hormone secretion decrease peak expiratory flow decrease phosphoribosylpyrophosphate synthetase level decrease plasma drug concentration decrease plasma free carnitine decrease plasma renin activity decrease plasma tg level decrease plasma total carnitine decrease platelet glycoprotein ib decrease platelet glycoprotein vi decrease platelet p2y12 receptor decrease pulmonary fissure count decrease pyruvate carboxylase activity decrease renal parenchymal thickness decrease rest energy expenditure decrease salivary cortisol level decrease sensation in extremity decrease sensitivity to hypoxaemia decrease sensitivity to hypoxemia decrease serum alkaline phosphatase decrease serum anion gap decrease serum bicarbonate concentration decrease serum bile concentration decrease serum complement c3 decrease serum complement c4 decrease serum complement c4a decrease serum complement c4b decrease serum complement c5 decrease serum complement c6 decrease serum complement c7 decrease serum complement c8 decrease serum complement c9 decrease serum drug concentration decrease serum factor b decrease serum hco3 concentration decrease serum parathyroid hormone decrease serum testosterone concentration decrease serum testosterone level decrease serum thromboxane b2 decrease subcutaneous adipose tissue decrease superoxide dismutase level decrease systolic blood pressure decrease t cell activation decrease t lymphocyte activation decrease threonine blood level decrease tryptophan in blood decrease tyrosine in blood decrease upper labial height decrease upper labial length decrease urinary catecholamine concentration decrease urinary copper concentration decrease urinary guanosine level decrease urine bicarbonate concentration decrease urine citrate concentration decrease urine hco3 concentration decrease vldl cholesterol concentration decrease von willebrand factor decrease width of face decrease width of maxilla decrease width of pharynx decrease width of philtrum decrease width of tooth decreased ability to exercise decreased ability to sweat decreased activity of gonad decreased activity of gonads decreased adipose tissue percentage decreased antimullerian hormone level decreased apolipoprotein ai level decreased b cell count decreased beta galactosidase activity decreased blood alanine concentration decreased blood asparagine concentration decreased blood carnosine concentration decreased blood cystine concentration decreased blood drug concentration decreased blood glutamate concentrations decreased blood glutamine concentration decreased blood histidine concentration decreased blood isoleucine concentration decreased blood leukocyte number decreased blood lymphocyte number decreased blood ornithine concentrations decreased blood proline levels decreased body fat percentage decreased body mass index decreased bone mineral density decreased breadth of face decreased breadth of philtrum decreased calcification of skull decreased carpal joint angles decreased cervical spine mobility decreased circulating acth level decreased circulating aldosterone level decreased circulating amylase level decreased circulating androgen concentration decreased circulating androgen level decreased circulating androstenedione concentration decreased circulating antibody level decreased circulating apolipoprotein concentration decreased circulating calcifediol concentration decreased circulating ceruloplasmin concentration decreased circulating cholesterol level decreased circulating chylomicron concentration decreased circulating chylomicron levels decreased circulating copper concentration decreased circulating corticosterone level decreased circulating cortisol level decreased circulating dehydroepiandrosterone concentration decreased circulating dehydroepiandrosterone level decreased circulating dihydrotestosterone concentration decreased circulating ferritin concentration decreased circulating free t3 decreased circulating free triiodothyronine decreased circulating gaba concentration decreased circulating globulin level decreased circulating glycerol level decreased circulating gonadotropin concentration decreased circulating gonadotropin level decreased circulating hydroxyproline concentration decreased circulating iga level decreased circulating igg level decreased circulating igg1 level decreased circulating igg2 level decreased circulating igg3 level decreased circulating igg4 level decreased circulating osteocalcin level decreased circulating prealbumin concentration decreased circulating pth level decreased circulating purine concentration decreased circulating renin level decreased circulating selenium concentration decreased circulating t4 level decreased circulating taurine levels decreased circulating tg levels decreased circulating threonine levels decreased circulating thyroxine level decreased circulating total iga decreased circulating total igg decreased circulating total igm decreased circumference of cranium decreased clarity of vision decreased cranial base ossification decreased csf alanine concentration decreased csf albumin concentration decreased csf amyloid level decreased csf arginine concentration decreased csf biopterin level decreased csf glutamate concentration decreased csf glutamine concentration decreased csf histidine concentration decreased csf homovanillic acid decreased csf isoleucine concentration decreased csf leucine concentration decreased csf lysine concentration decreased csf neopterin level decreased csf phenylalanine concentration decreased csf serine concentration decreased csf threonine concentration decreased csf tyrosine concentration decreased csf valine concentration decreased cystatin c level decreased deep tendon reflexes decreased dendritic spine number decreased depth of orbits decreased depth of philtrum decreased diameter of pharynx decreased diastolic blood pressure decreased distal touch sense decreased distal vibration sense decreased distance between eyes decreased erythrocyte sedimentation rate decreased facial muscle movement decreased facial muscle strength decreased facial muscle tone decreased factor x activity decreased female sex drive decreased fertility in females decreased fertility in males decreased forced vital capacity decreased fumarate hydratase activity decreased glomerular filtration rate decreased glucosephosphate isomerase level decreased hdl cholesterol concentration decreased heart rate variability decreased height of chin decreased height of face decreased height of philtrum decreased igd in blood decreased inhibin b level decreased international normalised ratio decreased international normalized ratio decreased intestinal transit time decreased knee jerk reflex decreased ldl cholesterol concentration decreased length of columella decreased length of eyelash decreased length of eyelashes decreased length of face decreased length of neck decreased length of nose decreased length of pharynx decreased length of philtrum decreased level of paf decreased level of plasminogen decreased level of thrombomodulin decreased level of tpa decreased lipoprotein lipase level decreased maximal oxygen uptake decreased mean corpuscular haemoglobin decreased mean corpuscular volume decreased mean platelet volume decreased methionine synthase activity decreased mineralization of skull decreased miniature endplate potential decreased miniature endplate potentials decreased mitochondrial malic enzyme decreased mobility of joint decreased mobility of joints decreased movement in utero decreased muscle glycogen content decreased nasal nitric oxide decreased nerve conduction velocities decreased nerve conduction velocity decreased number of glomerulus decreased number of nephron decreased number of teeth decreased number of vertebra decreased number of vertebrae decreased numbers of glomeruli decreased numbers of nephrons decreased parathyroid hormone secretion decreased peak expiratory flow decreased phosphoribosylpyrophosphate synthetase level decreased plasma drug concentration decreased plasma free carnitine decreased plasma renin activity decreased plasma tg levels decreased plasma total carnitine decreased platelet glycoprotein ib decreased platelet glycoprotein vi decreased platelet p2y12 receptor decreased projection of mandible decreased projection of maxilla decreased projection of midface decreased proportion of plasmablast decreased proportion of plasmablasts decreased pulmonary fissure count decreased pyruvate carboxylase activity decreased renal parenchymal thickness decreased resting energy expenditure decreased salivary cortisol level decreased sensation in extremities decreased sensitivity to hypoxaemia decreased sensitivity to hypoxemia decreased serum alkaline phosphatase decreased serum anion gap decreased serum bicarbonate concentration decreased serum bile concentration decreased serum complement c3 decreased serum complement c4 decreased serum complement c4a decreased serum complement c4b decreased serum complement c5 decreased serum complement c6 decreased serum complement c7 decreased serum complement c8 decreased serum complement c9 decreased serum drug concentration decreased serum factor b decreased serum hco3 concentration decreased serum parathyroid hormone decreased serum testosterone concentration decreased serum testosterone level decreased serum testosterone levels decreased serum thromboxane b2 decreased size of cheekbone decreased size of cranium decreased size of eyeball decreased size of eyeballs decreased size of eyelid decreased size of forehead decreased size of head decreased size of mandible decreased size of maxilla decreased size of midface decreased size of nose decreased size of pharynx decreased size of premaxilla decreased size of skull decreased size of teeth decreased size of tongue decreased size of tooth decreased subcutaneous adipose tissue decreased superoxide dismutase level decreased systolic blood pressure decreased t cell activation decreased t lymphocyte activation decreased threonine blood levels decreased tryptophan in blood decreased tyrosine in blood decreased upper labial height decreased upper labial length decreased urinary catecholamine concentration decreased urinary copper concentration decreased urinary guanosine level decreased urine bicarbonate concentration decreased urine citrate concentration decreased urine hco3 concentration decreased vldl cholesterol concentration decreased volume of lip decreased volume of pharynx decreased von willebrand factor decreased width of face decreased width of maxilla decreased width of pharynx decreased width of philtrum decreased width of tooth deep - set eye deep - set eyes deep - set nail deep - set nails deep central lingual furrow deep central lingual groove deep central tongue furrow deep central tongue groove deep longitudinal plantar crease deep median lingual furrow deep median lingual groove deep median tongue furrow deep median tongue groove deep perivascular inflammatory infiltrate deep tendon reflex absent deep tendon reflexes absent deep white matter hypodensities defect in alveolar ridge defect of leukocyte migration defect of palpebral conjunctiva defective b cell activation defective b cell differentiation defective t cell activation defective t cell proliferation defects of leukocyte migration deficiency of alveolar ridge deficiency of facial musculature deficiency of lingual frenulum deficiency of low jaw deficiency of lower jaw deficiency of nasal bone deficiency of neck muscle deficiency of speech development deficient in vitamin d deficit in expressive language deficit in nonword repetition deformity of facial skeleton deformity of hypophysial fossa deformity of nasal base deformity of nasal cartilage deformity of pituitary fossa deformity of radial head deformity of radial heads deformity of radial ray deformity of the cheek deformity of the cheekbone deformity of the cheeks deformity of the chin deformity of the columella deformity of the forehead deformity of the mandible deformity of the maxilla deformity of the midface deformity of the nares deformity of the naris deformity of the neck deformity of the nose deformity of the nostril deformity of the nostrils deformity of the skull degeneration of intervertebral disc degeneration of intervertebral discs degeneration of intervertebral disk degeneration of intervertebral disks degeneration of the hippocampus degeneration of the striatum delay ability to crawl delay ability to cruise delay ability to sit delay ability to stand delay ability to walk delay ankle bone maturation delay carpal bone age delay closure anterior fontanel delay cranial suture closure delay early motor milestone delay elbow epiphyseal ossification delay eruption of teeth delay femoral head ossification delay fine motor development delay gross motor development delay gross motor skill delay heel bone maturation delay humeral epiphyseal ossification delay in motor development delay myocardial gadolinium enhancement delay nerve conduction velocity delay oxidation of acetaldehyde delay phalangeal epiphyseal ossification delay primary teeth eruption delay pubic bone ossification delay umbilical cord separation delayed ability to crawl delayed ability to cruise delayed ability to sit delayed ability to stand delayed ability to walk delayed ankle bone maturation delayed carpal bone age delayed closure anterior fontanel delayed closure of fontanel delayed closure of fontanelle delayed closure of fontanelles delayed closure of fontanels delayed cranial suture closure delayed early motor milestones delayed elbow epiphyseal ossification delayed eruption of teeth delayed femoral head ossification delayed fine motor development delayed gross motor development delayed gross motor skills delayed heel bone maturation delayed humeral epiphyseal ossification delayed myocardial gadolinium enhancement delayed nerve conduction velocity delayed oxidation of acetaldehyde delayed phalangeal epiphyseal ossification delayed primary teeth eruption delayed pubic bone ossification delayed umbilical cord separation deliberate self - harm delivery by odon device dendritic corneal epithelial ulcer denervation of the diaphragm dennie - morgan fold dense posterior cortical cataract denude tubular basement membrane denuded tubular basement membrane dependence on diaphragmatic breathing dependency on intravenous nutrition dependency on iv nutrition dependency on parenteral nutrition depressed bridge of nose depressed dorsum of nose depressed tip of nose dermolipoma of the conjunctiva descend thoracic aorta aneurysm descending thoracic aorta aneurysm detachment of outermost fingernail detachment of outermost fingernails developmental delay , global deviate septum of nose deviate tip of nose deviated septum of nose deviated tip of nose deviation of low jaw deviation of lower jaw deviation of the hallux deviation of the mandible deviation of the maxilla deviation of the thumb diabetes mellitus type 2 diabetes mellitus type i diabetes mellitus type ii diastasis of the teeth diastema between front teeth diastema between upper incisor diastema between upper incisors diastema of the teeth difficulties with night vision difficulty get an erection difficulty getting an erection difficulty in lingual movement difficulty in lingual movements difficulty in tongue movement difficulty in tongue movements difficulty make arithmetical calculation difficulty making arithmetical calculations difficulty open the eyelid difficulty opening the eyelids difficulty see move object difficulty seeing moving objects difficulty walk down stair difficulty walk up stair difficulty walking down stairs difficulty walking up stairs difficulty with night vision diffuse , symmetrical osteosclerosis diffuse mesangial sclerosis glomerulopathy diffuse optic disc pallor diffuse pancreatic islet hyperplasia diffuse skeletal muscle waste diffuse skeletal muscle wasting diffuse slow skin atrophy diffuse subcortical band heterotopia diffuse white matter abnormalities diffuse white matter abnormality dilatated internal auditory canal dilatation of ascend aorta dilatation of ascending aorta dilatation of celiac artery dilatation of coeliac artery dilatation of mesenteric artery dilatation of renal calices dilatation of the bladder dilate cerebral perivascular space dilate heart right ventricle dilate leave subclavian artery dilate superficial abdominal vein dilated cerebral perivascular spaces dilated heart right ventricle dilated left subclavian artery dilated superficial abdominal veins dilation of foramen magnum dilation of lateral ventricle dilation of lateral ventricles diminish ability to concentrate diminish deep tendon reflex diminished ability to concentrate diminished deep tendon reflexes dimple on nasal tip dimple tip of nose dimpled tip of nose discolor , acholic stool discolored , acholic stools disease of the joint disease of the joints dislocate hip since birth dislocate knee since birth dislocated hip since birth dislocated knee since birth dislocation of radial head dislocation of the elbow dislocation of the knee dislocation of the wrist dislocations of the elbows dislocations of the knees dislocations of the wrists disorder of carotid artery disorder of cervical vertebra disorder of dental eruption disorder of pituitary gland disorder of the face disorder of tooth eruption displace lobar tracheal bronchus displaced lobar tracheal bronchus displacement of big toe displacement of the hallux displacement of the thumb disproportionate short limb dwarfism disproportionately short middle phalanges disproportionately short middle phalanx disrupt ocular pursuit movement disrupted ocular pursuit movements disseminate nontuberculous mycobacterial infection disseminated nontuberculous mycobacterial infection distal femoral metaphyseal abnormality distal femoral metaphyseal irregularity distal humeral metaphyseal irregularity distal intestinal obstruction syndrome distal limb muscle atrophy distal limb muscle weakness distal low limb amyotrophy distal lower limb amyotrophy distal peripheral sensory neuropathy distal radial epiphyseal osteolysis distal renal tubular acidosis distal shortening of limb distal shortening of limbs distal shortening of ulna distal symphalangism of hand distal symphalangism of hands distal tapering of metatarsal distal tapering of metatarsals distal ulnar epiphyseal calcification distal ulnar epiphyseal calcifications distal ulnar epiphyseal stipple distal ulnar epiphyseal stippling distal upper limb amyotrophy distal widening of metacarpal distal widening of metacarpals distichiasis of eyelid eyelash distichiasis of eyelid eyelashes distortion of facial shape disturbance of dental eruption disturbance of facial expression disturbance of tooth eruption doll - like facies dorsal subluxation of ulna double - layer patella double - layered patella double calcaneal ossification center double calcaneal ossification centre double inlet atrioventricular connection double inlet atrioventricular connexion double inlet leave ventricle double inlet left ventricle double inlet right ventricle double orifice mitral valve double outlet leave ventricle double outlet left ventricle double outlet right ventricle double row of eyelash double row of eyelashes double thumb distal phalanges double thumb distal phalanx doublet premature ventricular contraction doublet premature ventricular contractions down - sloping shoulder down - sloping shoulders down slant palpebral fissure down slanting palpebral fissures downturned corner of mouth downturned corners of mouth downward slant palpebral fissure downward slanted palpebral fissures downward slanting palpebral fissures drug - induce anaphylaxis drug - induce reaction drug - induce response drug - induced agranulocytosis drug - induced anaphylaxis drug - induced reaction drug - induced response drumstick - shaped root drumstick shape digital bone drumstick shaped digital bones ductal carcinoma in situ dumbbell - shape femur dumbbell - shape humerus dumbbell - shape thighbone dumbbell - shaped femur dumbbell - shaped humerus dumbbell - shaped metaphyses dumbbell - shaped thighbone duodenal stenosis / atresia duplicate renal collecting system duplicated renal collecting system duplication of finger bone duplication of finger bones duplication of great toe duplication of great toes duplication of hand bone duplication of hand bones duplication of internal organ duplication of internal organs duplication of metatarsal bone duplication of metatarsal bones duplication of pancreatic duct duplication of renal pelvis duplication of spinal cord duplication of thumb phalanx dysfunctional alternative complement pathway dysgenesis of corpus callosum dysgenesis of the hippocampus dysgenesis of the hypothalamus dysgenesis of the thalamus dysgyria with thickened cortex dysharmonic accelerate bone age dysharmonic accelerated bone age dysharmonic delay bone age dysharmonic delayed bone age dysmorphic inferior cerebellar vermis dysmyelination of the brain dysplasia of corpus callosum dysplasia of tooth enamel dysplastic distal radial epiphyses dysplastic distal radial epiphysis early eruption of teeth early onset absence seizure early onset absence seizures early onset of puberty early spermatogenesis maturation arrest eat - induced seizure eating - induced seizure eburnation of spinal bone eclabium of low lip eclabium of lower lip eclabium of upper lip ectopia of the spleen ectopic anterior pituitary gland ectopic cilia of eyelid ectopic cilium of eyelid ectopic kidney with fusion ectrodactyly of the hand ectropion of low eyelid ectropion of lower eyelids eczema around the mouth edema of the cerebellum edema of the eyelid edema of the eyelids edema of the thalamus eeg : periodic abnormalities eeg : periodic abnormality eeg : periodic complex eeg : periodic complexes eeg with burst suppression eeg with constitutional variant eeg with constitutional variants eeg with diffuse acceleration eeg with focal spike eeg with focal spikes eeg with generalised polyspikes eeg with generalised spike eeg with generalised spikes eeg with generalized polyspikes eeg with generalized spike eeg with generalized spikes eeg with occipital slow eeg with occipital slowing eeg with periodic abnormalities eeg with periodic abnormality eeg with periodic complex eeg with periodic complexes eeg with photoparoxysmal response electrical leave axis deviation electrical left axis deviation electrical right axis deviation electrocardiographic long pr interval electrocardiographic short pr interval elevate 7 - dehydrocholesterol elevate 8 - dehydrocholesterol elevate alpha - fetoprotein elevate apolipoprotein b level elevate blood creatine phosphokinase elevate blood drug concentration elevate blood glycine level elevate blood renin level elevate carcinoembryonic antigen level elevate cerebrospinal fluid protein elevate cholesterol ester level elevate cholesteryl ester level elevate circulate acetone concentration elevate circulate acylcarnitine concentration elevate circulate amyloid a elevate circulate bnp concentration elevate circulate butyrylcarnitine concentration elevate circulate catecholamine level elevate circulate ccl18 level elevate circulate ceramidetrihexoside concentration elevate circulate chi3l1 level elevate circulate creatine phosphokinase elevate circulate creatinine concentration elevate circulate decenoylcarnitine concentration elevate circulate deoxypyridinoline concentration elevate circulate dodecanoylcarnitine concentration elevate circulate dodecenoylcarnitine concentration elevate circulate erythropoietin concentration elevate circulate fumarate concentration elevate circulate globotriaosylceramide concentration elevate circulate glutarylcarnitine concentration elevate circulate glycolate concentration elevate circulate hexanoylcarnitine concentration elevate circulate homoalanine concentration elevate circulate isovalerylcarnitine concentration elevate circulate leptin level elevate circulate linoleylcarnitine concentration elevate circulate myoglobin concentration elevate circulate octenoylcarnitine concentration elevate circulate oleylcarnitine concentration elevate circulate osteopontin level elevate circulate palmitoleylcarnitine concentration elevate circulate palmitoylcarnitine concentration elevate circulate propionylcarnitine concentration elevate circulate pth level elevate circulate pyridinoline concentration elevate circulate ribitol concentration elevate circulate sacchoropine concentration elevate circulate serine level elevate circulate sitosterol concentration elevate circulate somatotropin concentration elevate circulate stearoylcarnitine concentration elevate circulate tetradecanolycarnitine concentration elevate circulate transferrin concentration elevate circulate uracil concentration elevate circulate ykl40 level elevate ck after exercise elevate cpk after exercise elevate csf amyloid level elevate csf biopterin level elevate csf dopamine level elevate csf ghb level elevate csf neopterin level elevate csf urate concentration elevate d - dimer elevate dermal desmosine content elevate diastolic blood pressure elevate erythrocyte sedimentation rate elevate factor v activity elevate follicle stimulate hormone elevate functional residual capacity elevate gmp pyrophosphorylase level elevate hepatic iron concentration elevate histidine in urine elevate intestinal alkaline phosphatase elevate jugular venous pressure elevate leave atrial pressure elevate leukocyte alkaline phosphatase elevate lipoprotein lipase level elevate liver function test elevate lung artery pressure elevate mean arterial pressure elevate myocardial native t1 elevate myocardial native t2 elevate placental alkaline phosphatase elevate plasma acylcarnitine level elevate plasma cell count elevate plasma dodecenoylcarnitine concentration elevate plasma drug concentration elevate pulmonary artery pressure elevate right atrial pressure elevate serum acid phosphatase elevate serum alanine aminotransferase elevate serum anion gap elevate serum aspartate aminotransferase elevate serum bicarbonate concentration elevate serum creatine kinase elevate serum creatine phosphokinase elevate serum drug concentration elevate serum hco3 concentration elevate serum parathyroid hormone elevate serum potassium level elevate serum taurine level elevate stool coproporphyrin 1 elevate stool coproporphyrin 3 elevate sweat cl - elevate systolic blood pressure elevate thyroid stimulate hormone elevate total serum tryptase elevate uridine in urine elevate urinary aminoisobutyric acid elevate urinary carboxylic acid elevate urinary homogentisic acid elevate urinary homovanillic acid elevate urinary vanillylmandelic acid elevate urine calcium level elevate urine mevalonate level elevate urine mevalonic acid elevate urine pyridinoline level elevate white blood count elevated 7 - dehydrocholesterol elevated 8 - dehydrocholesterol elevated alpha - fetoprotein elevated apolipoprotein b level elevated blood creatine phosphokinase elevated blood drug concentration elevated blood glycine levels elevated blood renin level elevated carcinoembryonic antigen level elevated cerebrospinal fluid protein elevated cholesterol ester level elevated cholesteryl ester level elevated circulating acetone concentration elevated circulating acylcarnitine concentration elevated circulating amyloid a elevated circulating bnp concentration elevated circulating butyrylcarnitine concentration elevated circulating catecholamine level elevated circulating ccl18 level elevated circulating ceramidetrihexoside concentration elevated circulating chi3l1 level elevated circulating creatine phosphokinase elevated circulating creatinine concentration elevated circulating decenoylcarnitine concentration elevated circulating deoxypyridinoline concentration elevated circulating dodecanoylcarnitine concentration elevated circulating dodecenoylcarnitine concentration elevated circulating erythropoietin concentration elevated circulating fumarate concentration elevated circulating globotriaosylceramide concentration elevated circulating glutarylcarnitine concentration elevated circulating glycolate concentration elevated circulating hexanoylcarnitine concentration elevated circulating homoalanine concentration elevated circulating isovalerylcarnitine concentration elevated circulating leptin level elevated circulating linoleylcarnitine concentration elevated circulating myoglobin concentration elevated circulating octenoylcarnitine concentration elevated circulating oleylcarnitine concentration elevated circulating osteopontin level elevated circulating palmitoleylcarnitine concentration elevated circulating palmitoylcarnitine concentration elevated circulating propionylcarnitine concentration elevated circulating pth level elevated circulating pyridinoline concentration elevated circulating ribitol concentration elevated circulating sacchoropine concentration elevated circulating serine levels elevated circulating sitosterol concentration elevated circulating somatotropin concentration elevated circulating stearoylcarnitine concentration elevated circulating tetradecanolycarnitine concentration elevated circulating transferrin concentration elevated circulating uracil concentration elevated circulating ykl40 level elevated ck after exercise elevated cpk after exercise elevated csf amyloid level elevated csf biopterin level elevated csf dopamine level elevated csf ghb levels elevated csf neopterin level elevated csf urate concentration elevated d - dimers elevated dermal desmosine content elevated diastolic blood pressure elevated erythrocyte sedimentation rate elevated factor v activity elevated faecal coproporphyrin 1 elevated faecal coproporphyrin 3 elevated fecal coproporphyrin 1 elevated fecal coproporphyrin 3 elevated follicle stimulating hormone elevated functional residual capacity elevated gmp pyrophosphorylase level elevated hepatic iron concentration elevated histidine in urine elevated intestinal alkaline phosphatase elevated jugular venous pressure elevated left atrial pressure elevated leukocyte alkaline phosphatase elevated lipid in blood elevated lipids in blood elevated lipoprotein lipase level elevated liver function tests elevated lung artery pressure elevated mean arterial pressure elevated myocardial native t1 elevated myocardial native t2 elevated placental alkaline phosphatase elevated plasma acylcarnitine levels elevated plasma cell count elevated plasma dodecenoylcarnitine concentration elevated plasma drug concentration elevated pulmonary artery pressure elevated right atrial pressure elevated serum acid phosphatase elevated serum alanine aminotransferase elevated serum anion gap elevated serum aspartate aminotransferase elevated serum bicarbonate concentration elevated serum creatine kinase elevated serum creatine phosphokinase elevated serum drug concentrations elevated serum hco3 concentration elevated serum parathyroid hormone elevated serum potassium levels elevated serum taurine levels elevated stool coproporphyrin 1 elevated stool coproporphyrin 3 elevated sweat cl - elevated systolic blood pressure elevated thyroid stimulating hormone elevated total serum tryptase elevated uridine in urine elevated urinary aminoisobutyric acid elevated urinary carboxylic acid elevated urinary homogentisic acid elevated urinary homovanillic acid elevated urinary vanillylmandelic acid elevated urine calcium levels elevated urine mevalonate levels elevated urine mevalonic acid elevated urine pyridinoline level elevated white blood count elongate superior cerebellar peduncle elongated superior cerebellar peduncle elongated superior cerebellar peduncles elongation of upper lip emg : axonal abnormality emg : myokymic discharge emg : myokymic discharges emg : myopathic abnormalities emg : myopathic abnormality emg : myopathic change emg : myopathic changes emg : myotonic discharge emg : myotonic discharges emg : myotonic run emg : myotonic runs emg : neurogenic abnormalities emg : neurogenic abnormality emg : neurogenic change emg : neurogenic changes emg : neurogenic finding emg : neurogenic findings emg : neuropathic change emg : neuropathic changes end - plate irregularities end - plate irregularity end stage renal disease end stage renal failure endoarterial hypercellularity within arteriole endoarterial hypercellularity within arterioles endotheliosis within arcuate arteries endotheliosis within arcuate artery endotheliosis within interlobular arteries endotheliosis within interlobular artery enhanced neurotoxicity of vincristine enlarge capital femoral epiphysis enlarge fetal cisterna magna enlarge foetal cisterna magna enlarge great longitudinal fissure enlarge heart right atrium enlarge innermost hinge joint enlarge internal auditory canal enlarge liver and spleen enlarge longitudinal cerebral fissure enlarge mesenteric lymph node enlarge platelet dense granule enlarge proximal interphalangeal joint enlarge vein in esophagus enlarge vein in oesophagus enlarged capital femoral epiphyses enlarged fetal cisterna magna enlarged foetal cisterna magna enlarged great longitudinal fissure enlarged heart leave atrium enlarged heart left atrium enlarged heart right atrium enlarged innermost hinge joint enlarged internal auditory canal enlarged liver and spleen enlarged longitudinal cerebral fissure enlarged mesenteric lymph node enlarged ovaries with cysts enlarged ovary with cyst enlarged platelet dense granules enlarged proximal interphalangeal joints enlarged vein in esophagus enlarged vein in oesophagus enlargement of calvarial bone enlargement of calvarial bones enlargement of craniofacial bone enlargement of craniofacial bones enlargement of facial bone enlargement of facial bones enlargement of facial skeleton enlargement of parotid gland enlargement of skull bone enlargement of skull bones enlargement of the ankle enlargement of the ankles enlargement of the labia enlargement of the labium enlargement of the wrist enlargement of the wrists epiblepharon of low lid epiblepharon of lower lid epiblepharon of upper lid epiphyseal stipple in neonate epiphyseal stippling in neonates episode of neisserial infection episode of ventricular tachycardia episodes of neisserial infection episodes of ventricular tachycardia episodic rapid heart beat episodic upper airway obstruction erlenmeyer flask shape thighbone erlenmeyer flask shaped thighbone erosion of oral mucosa eruptive vellus hair cyst erythema of the eyelid erythema of the eyelids erythemato - squamous plaque eventration of the diaphragm evert low lip vermilion evert prominent low lip evert prominent upper lip evert upper lip vermilion everted lower lip vermilion everted prominent lower lip everted prominent upper lip everted upper lip vermilion exaggerated acoustic startle response exaggerated cupid 's bow exaggerated median lingual furrow exaggerated median tongue furrow excess astrocyte in brain excess astrocytes in brain excess fluid in lung excess fluid in lungs excess periorbital skin wrinkling excess skin in infancy excessive bleeding during surgery excessive dynamic airway collapse excessive hairiness over body excessive production of saliva excessive sweating of hand excessive sweating of hands exercise - induced asthma exercise - induced fatigue exercise - induced hemolysis exercise - induced malaise exercise - induced myalgia exercise - induced myoglobinuria exercise - induced rhabdomyolysis exostoses of hand bones exostoses of the radius exostoses of the ulna exostosis of hand bone exostosis of the radius exostosis of the ulna external acoustic meatus atresia external auditory canal atresia external auditory canal exostoses external auditory canal exostosis external auditory canal stenosis external auditory meatal atresia external auditory meatus atresia external carotid artery calcification external carotid artery dissection external ear position defect external ophthalmoplegia , progressive extra calcaneal ossification center extra calcaneal ossification centre extra row of eyelash extra rows of eyelashes extra skin on finger extra skin on fingers extra upper front tooth extractable nuclear antigen positivity extrahepatic biliary duct atresia extremely elevated creatine kinase extremely elevated creatine phosphokinase extremely high cpk level eye at different height eyelid stuck to eyeball eyes at different heights facial - lingual fasciculation facial - lingual fasciculations facial paresis , bilateral factor x activation deficiency falter weight in infancy faltering weight in infancy fascicular leave ventricular tachycardia fascicular left ventricular tachycardia fasciculation of the eyelid fast - grow nail fast - growing nails fatty deposit on eyelid fatty deposits on eyelids fatty infiltration of liver favorable response to levodopa favourable response to levodopa fear of loud sound fear of loud sounds fear of open space fear of open spaces feed difficulty in infancy feeding difficulties in infancy female reproductive system neoplasm fetal choroid plexus cyst fetal choroid plexus cysts fetal fifth finger clinodactyly fetal little finger curvature fetal pinkie finger curvature fetal pinky finger curvature fetal renal pelvic dilatation fetal ultrasound soft marker few teeth than normal fewer teeth than normal fibrillar glomerular subepithelial deposit fibrillar glomerular subepithelial deposits fibrillary glomerular subepithelial deposit fibrillary glomerular subepithelial deposits fibroadenoma of the breast fibrous hamartoma of infancy fibular aplasia / hypoplasia fibular deviation of toe fibular deviation of toes fine motor skill dysfunction finger - like thumb finger bend toward pinky finger bends toward pinky first - degree microtia first degree atrioventricular block first metacarpophalangeal joint synostosis fix splitting of s2 fixation - off sensitivity fixed splitting of s2 flaky paint skin appearance flame - shape pulp flame - shaped pulp flare , widen metaphyses flare distal fibular metaphysis flare distal tibial metaphysis flare low limb metaphysis flare upper limb metaphysis flared , widened metaphyses flared distal fibular metaphysis flared distal tibial metaphysis flared lower limb metaphysis flared upper limb metaphysis flaring of rib cage flat , nasal bridge flat back of skull flat bridge of nose flat capital femoral epiphyses flat capital femoral epiphysis flat distal femoral epiphysis flat dorsum of nose flat femoral capital epiphyses flat femoral capital epiphysis flat nasal alar cartilage flat proximal femoral epiphyses flat proximal femoral epiphysis flat tip of nose flatten and twist hair flatten cervical vertebral body flatten distal femoral epiphysis flatten moderately deformed vertebra flatten or absent electroretinogram flatten proximal femoral epiphysis flatten proximal radial epiphysis flattened and twisted hair flattened cervical vertebral bodies flattened distal femoral epiphyses flattened moderately deformed vertebrae flattened or absent electroretinogram flattened proximal femoral epiphyses flattened proximal radial epiphyses flattening of alveolar margin flattening of alveolar ridge flattening of alveolar ridges flattening of cranial vault flattening of facial bone flattening of facial bones flattening of facial skeleton flattening of gum ridge flattening of gum ridges fleischer - kayser ring fleischer - struempell ring flesh - color papule flesh - colored papule flexion contracture of digit flexion contracture of finger flexion contracture of hip flexion contracture of hips flexion contracture of joint flexion contracture of knee flexion contracture of knees flexion contracture of thumb flexion contracture of toe flexion contractures of hips flexion contractures of joints flexion contractures of knees flexion deformities of thumbs flexion deformity of finger flexion deformity of thumb flexion limitation of toe flexion limitation of toes flexner - wintersteiner rosette fluid from the pharynx fluid overload in blood fluorosis of tooth enamel focal - onset seizure focal - onset seizures focal and segmental glomerulosclerosis focal aware atonic seizure focal aware automatism seizure focal aware autonomic seizure focal aware clonic seizure focal aware cognitive seizure focal aware emotional seizure focal aware epileptic spasm focal aware hemiclonic seizure focal aware hyperkinetic seizure focal aware motor seizure focal aware myoclonic seizure focal aware sensory seizure focal aware tonic seizure focal behavior arrest seizure focal behaviour arrest seizure focal bilateral motor seizure focal facial dermal dysplasia focal hemifacial clonic seizure focal impair awareness seizure focal impaired awareness seizure focal impaired awareness seizures focal inhibitory status epilepticus focal manual automatism seizure focal motor aware seizure focal motor status epilepticus focal neonatal sequential seizure focal onset epileptic spasm focal orofacial automatism seizure focal pancreatic islet hyperplasia focal pedal automatism seizure focal perseverative automatism seizure focal sensory auditory seizure focal sensory gustatory seizure focal sexual automatism seizure focal undress automatism seizure focal undressing automatism seizure focal verbal automatism seizure focal vocal automatism seizure focal white matter lesion focal white matter lesions foetal choroid plexus cyst foetal choroid plexus cysts foetal fifth finger clinodactyly foetal little finger curvature foetal pinkie finger curvature foetal pinky finger curvature foetal renal pelvic dilatation foetal ultrasound soft marker folate deficiency in csf food - induced anaphylaxis foot , talipes equinovarus forward direct upper incisor forward directed upper incisors forward slant upper incisor forward slanting upper incisors fossa navicularis urethral stricture four - layer lissencephaly four - layered lissencephaly fourth cranial nerve palsy fracture bone of jaw fracture distal tarsal bone fracture head of femur fracture low limb segment fracture manual digit bone fracture of the fibula fracture of the forearm fracture of the humerus fracture of the tibia fracture of vertebral body fracture phalanx of manus fracture phalanx of pe fracture upper limb segment fractured bone of jaw fractured distal tarsal bone fractured epiphysis of femur fractured head of femur fractured lower limb segment fractured manual digit bone fractured metaphysis of femur fractured orbit of skull fractured phalanx of manus fractured phalanx of pes fractured upper limb segment fractures of vertebral bodies fragment , irregular epiphysis fragmentation of thumb epiphysis fragmented , irregular epiphyses fray , irregular metaphyses frayed , irregular metaphyses freckle in groin region freckles in groin region freezing of jaw joint frequent , severe infection frequent , severe infections frequent bleed with trauma frequent bleeding with trauma frequent giardia lamblia infestation frequent upper respiratory infection frequent upper respiratory infections frequent urinary tract infection frequent urinary tract infections frog - leg posture front fontanelle stay open front fontanelle stays open frontal crease of face frontal creases of face frontal subcortical band heterotopia frontal upsweep of hair full low lip vermilion full lower lip vermilion full upper lip vermilion fullness around the eye fullness around the eyes fullness of low eyelid fullness of lower eyelid fullness of paranasal tissue fullness of upper eyelid furrow palm and sol furrowed palms and soles fuse big toe bone fuse capitate and hamate fuse index finger bone fuse innermost hand bone fuse innermost hinge joint fuse little finger bone fuse middle finger bone fuse pinkie finger bone fuse pinky finger bone fuse ring finger bone fuse sternal ossification center fuse sternal ossification centre fused big toe bones fused capitate and hamate fused index finger bones fused innermost hand bones fused innermost hinge joints fused little finger bones fused middle finger bone fused pinkie finger bones fused pinky finger bones fused ring finger bones fused sternal ossification centers fused sternal ossification centres fusiform abdominal aortic aneurysm fusiform aortic arch aneurysm fusion of carpal bone fusion of carpal bones fusion of cervical vertebra fusion of cervical vertebrae fusion of foot joint fusion of midphalangeal joint fusion of midphalangeal joints fusion of the gingiva fusion of thumb bone fusion of vertebral bodies fusion of vertebral body fusion of wrist bone fusion of wrist bones gait ataxia , progressive gap between front teeth gastro - esophageal reflux gastro - oesophageal reflux gastrointestinal infection , recurrent gastrointestinal infections , recurrent gaze - evoke nystagmus gaze - evoked nystagmus generalise - onset seizure generalise convulsive status epilepticus generalise decreased muscle tone generalise distal tubular acidosis generalise inability to sweat generalise limb muscle atrophy generalise onset clonic seizure generalise onset epileptic spasm generalise onset motor seizure generalise reticulate brown pigmentation generalised - onset seizure generalised abnormality of skin generalised convulsive status epilepticus generalised decreased muscle tone generalised distal tubular acidosis generalised hypopigmentation of hair generalised inability to sweat generalised limb muscle atrophy generalised onset clonic seizure generalised onset epileptic spasm generalised onset motor seizure generalised reticulate brown pigmentation generalised spacing of teeth generalize - onset seizure generalize abnormality of skin generalize convulsive status epilepticus generalize decreased muscle tone generalize distal tubular acidosis generalize hypopigmentation of hair generalize inability to sweat generalize limb muscle atrophy generalize onset clonic seizure generalize onset epileptic spasm generalize onset motor seizure generalize reticulate brown pigmentation generalize spacing of teeth generalized - onset seizure generalized - onset seizures generalized abnormality of skin generalized convulsive status epilepticus generalized decreased muscle tone generalized distal tubular acidosis generalized hypopigmentation of hair generalized inability to sweat generalized limb muscle atrophy generalized onset clonic seizure generalized onset epileptic spasm generalized onset motor seizure generalized reticulate brown pigmentation generalized spacing of teeth gerbode ventricular septal defect giant melanosomes in melanocyte giant melanosomes in melanocytes giant pigment hairy nevus giant pigmented hairy nevus giant somatosensory evoke potential giant somatosensory evoked potentials glaucomatous visual field defect global paralysis of gaze glomerular amyloid subepithelial deposit glomerular amyloid subepithelial deposits glomerular basement membrane disruption glomerular basement membrane lamellation glomerular basement membrane lucencies glomerular basement membrane rupture glomerular basement membrane spike glomerular basement membrane spikes glomerular basement membrane wrinkle glomerular basement membrane wrinkling glomerular endocapillary leukocyte hypercellularity glomerular endocapillary neutrophil hypercellularity glomerular endothelial tubuloreticular inclusion glomerular hyaline subepithelial deposit glomerular hyaline subepithelial deposits gm1 - ganglioside accumulation gm2 - ganglioside accumulation gonadal dysgenesis , male gout of big toe grade i vesicoureteral reflux grade ii vesicoureteral reflux grade iii vesicoureteral reflux grade iv vesicoureteral reflux grade v vesicoureteral reflux granulomatous enteritis and colitis gray color tooth enamel gray colored tooth enamel greatly elevate alkaline phosphatase greatly elevated alkaline phosphatase grey colour tooth enamel grey coloured tooth enamel ground - glass opacification growth delay as child growth delay as children growth retardation as child growth retardation as children growth without growth hormone haemorrhage of the eye halberd - shape pelvis halberd - shaped pelvis hamartoma of the eye hardening of ankle bone hardening of ankle bones head and neck abnormality head and neck cancer head and neck tumor head and neck tumour hearing loss , conductive hearing loss , mixed hearing loss , sensorineural heart - shape uterus heart - shaped uterus heart leave ventricle hypertrophy heart leave ventricle hypoplasia heart left ventricle hypertrophy heart left ventricle hypoplasia heart right ventricle hypertrophy heart right ventricle hypoplasia heavy - chain paraproteinemia heliotrope rash of eyelid helix , darwin notch helix , darwin tubercle helix , posterior pit hemangioblastoma , sporadic cerebellar hemangioma of the lip hemangioma of the liver hemianoptic blurring of vision hemiatrophy of low limb hemiatrophy of lower limb hemiatrophy of the body hemiatrophy of upper limb hemihypertrophy of low limb hemihypertrophy of lower limb hemihypertrophy of upper limb hemihypotrophy of low limb hemihypotrophy of lower limb hemihypotrophy of upper limb hemiplegia ( leave ) hemiplegia ( left ) hemiplegia ( right ) hemolytic - uremic syndrome hemolytic anemia , autoimmune hemolytic anemia , chronic hemorrhage of the eye heparin - induce thrombocytopenia heparin - induced thrombocytopenia hepatic steatosis , diffuse hepatitis , chronic active hereditary nonpolyposis colorectal carcinoma herniation of intervertebral nuclei herniation of intervertebral nucleus heterotopias / abnormal migration high , arched palate high , narrow palate high , prominent forehead high , round eyebrow high , rounded eyebrows high - arch eyebrow high - arched eyebrows high - arched foot high - arched palate high - frequency deafness high - grade hypermetropia high - pitch cry high - pitched cry high - pitched voice high blood albumin level high blood albumin levels high blood ammonia level high blood ammonia levels high blood arginine level high blood arginine levels high blood asaparagine level high blood asaparagine levels high blood bilirubin level high blood bilirubin levels high blood calcium level high blood calcium levels high blood carnosine level high blood carnosine levels high blood corticotropin level high blood corticotropin levels high blood creatinine level high blood cystathionine level high blood cystathionine levels high blood cystine level high blood cystine levels high blood eosinophil count high blood glutamate level high blood glutamate levels high blood hdl level high blood histidine level high blood hydroxyproline level high blood hydroxyproline levels high blood isoleucine concentration high blood leucine concentration high blood magnesium level high blood magnesium levels high blood mg level high blood mg levels high blood monocyte number high blood ornithine level high blood ornithine levels high blood phosphate level high blood phosphate levels high blood serine level high blood serine levels high blood sodium level high blood sodium levels high blood threonine level high blood threonine levels high blood tryptophan concentration high blood valine concentration high erythrocyte sedimentation rate high faecal coproporphyrin 1 high faecal coproporphyrin 3 high fecal coproporphyrin 1 high fecal coproporphyrin 3 high frequency hearing loss high insertion of columella high mandibular plane angle high maternal serum hcg high plasma sarcosine level high plasma sarcosine levels high serum alkaline phosphatase high serum creatine kinase high serum testosterone level high serum testosterone levels high stool coproporphyrin 1 high stool coproporphyrin 3 high urinary gonadotropin level high urinary isobutyrylglycine level high urinary isobutyrylglycine levels high urine albumin level high urine albumin levels high urine arginine level high urine arginine levels high urine aspartylglucosamine level high urine aspartylglucosamine levels high urine carnosine level high urine carnosine levels high urine cortisol level high urine cystathionine level high urine cystathionine levels high urine cystine level high urine cystine levels high urine glycine level high urine glycine levels high urine glycopeptide level high urine glycopeptide levels high urine histidine level high urine histidine levels high urine homocystine level high urine homocystine levels high urine lysine level high urine lysine levels high urine neutrophil count high urine occult blood high urine oxalate level high urine oxalate levels high urine phosphate level high urine phosphate levels high urine phosphoethanolamine level high urine phosphoethanolamine levels high urine prostaglandin level high urine prostaglandin levels high urine protein level high urine protein levels high urine sarcosine level high urine sarcosine levels high urine threonine level high urine threonine levels high urine trimethylamine level high urine trimethylamine levels high urine tryptophan level high urine tryptophan levels high urine uracil level high urine uracil levels high white blood count highly elevate creatine kinase highly elevate creatine phosphokinase highly elevate serum ck highly elevate serum cpk highly elevated creatine kinase highly elevated creatine phosphokinase highly elevated serum ck highly elevated serum cpk hip girdle muscle weakness hole in parietal bone holes in parietal bones hook - shape collarbone hook - shaped clavicle hook - shaped collarbone hooked tip of nose horizontal chin skin cleft horizontal crus of helix horizontal deficiency of face horizontal excess of face horizontal hyperplasia of face horizontal hypoplasia of face horizontal insufficiency of face horizontal supranuclear gaze palsy hormonally silent pituitary adenoma hot cross bun sign house dust mite allergy howell - jolly bodies howell - jolly body humeral - radial synostosis humero - scapulo synostosis hunch back in infancy hunched back in infancy hurthle cell thyroid adenoma hydrops fetalis , nonimmune hydrops of the placenta hyperactive ankle jerk reflex hyperactive deep tendon reflex hyperactive deep tendon reflexes hypercalcification of skull base hypercapnia in cord blood hyperconvex vertebral body endplate hyperconvex vertebral body endplates hyperextensibility of the knee hyperextensible skin of chest hyperextensible skin of face hyperkeratosis , diffuse palmoplantar hyperkeratosis over edematous area hyperkeratosis over edematous areas hypermineralization of skull base hypermobility of all joint hypermobility of all joints hypermobility of interphalangeal joint hypermobility of interphalangeal joints hypermobility of toe joint hypermobility of toe joints hypermyelinated retinal nerve fiber hypermyelinated retinal nerve fibers hypermyelinated retinal nerve fibre hypermyelinated retinal nerve fibres hyperossification of skull base hyperostosis of calvarial bone hyperostosis of calvarial bones hyperostosis of cranial bone hyperostosis of cranial bones hyperostosis of cranial vault hyperostosis of craniofacial bone hyperostosis of craniofacial bones hyperostosis of facial bone hyperostosis of facial bones hyperostosis of facial skeleton hyperostosis of low jaw hyperostosis of lower jaw hyperostosis of mandibular bone hyperostosis of skull base hyperoxemia in cord blood hyperphalangy of index finger hyperphalangy of third finger hyperpigmentation of expose area hyperpigmentation of exposed areas hyperpigmentation of lip vermillion hyperpigmentation of oral mucosa hyperpigmentation of the fundus hyperpigmentation of the scrotum hyperpigmentation of the skin hyperpigmented / hypopigmented macule hyperpigmented / hypopigmented macules hyperpigmented nevi and streak hyperpigmented nevus and streak hyperplasia of alveolar ridge hyperplasia of facial muscle hyperplasia of facial muscles hyperplasia of foramen magnum hyperplasia of frontal sinus hyperplasia of hypophysial fossa hyperplasia of labia majora hyperplasia of labium majora hyperplasia of low jaw hyperplasia of lower jaw hyperplasia of malar bone hyperplasia of malar bones hyperplasia of nasal tip hyperplasia of neck muscle hyperplasia of neck muscles hyperplasia of paranasal tissue hyperplasia of parotid gland hyperplasia of pituitary fossa hyperplasia of sella turcica hyperplasia of supraorbital margin hyperplasia of supraorbital margins hyperplasia of supraorbital ridge hyperplasia of the endometrium hyperplasia of the maxilla hyperplasia of the premaxilla hyperplasia of the tongue hyperplasia of upper jaw hyperplasia of zygomatic bone hyperplastic islet of langerhans hyperplastic islets of langerhans hyperreflexia in low limb hyperreflexia in lower limbs hyperreflexia in upper limb hyperreflexia in upper limbs hypersegmentation of neutrophil nuclei hypersegmentation of neutrophil nucleus hypertension associate with pheochromocytoma hypertension associated with pheochromocytoma hypertensive disorder of pregnancy hypertrichosis of the eyebrow hypertrichosis of the eyebrows hypertrophy of calvarial bone hypertrophy of calvarial bones hypertrophy of cervical muscle hypertrophy of cervical muscles hypertrophy of cranial bone hypertrophy of cranial bones hypertrophy of craniofacial bone hypertrophy of craniofacial bones hypertrophy of facial bone hypertrophy of facial bones hypertrophy of facial skeleton hypertrophy of frontal sinus hypertrophy of low jaw hypertrophy of lower jaw hypertrophy of nasal tip hypertrophy of paranasal tissue hypertrophy of parotid gland hypertrophy of supraorbital margin hypertrophy of supraorbital margins hypertrophy of supraorbital ridge hypertrophy of the breast hypertrophy of the breasts hypertrophy of the tongue hypertrophy of upper jaw hypo / aplastic vermis hypocalcification of dental enamel hypocapnia in cord blood hypochromic , microcytic anaemia hypochromic , microcytic anemia hypokalemic hypochloremic metabolic alkalosis hypokinesia of the tongue hypomyelination of the brain hypopigmentation of the fundus hypopigmentation of the skin hypoplasia involve forearm bone hypoplasia involving forearm bones hypoplasia of alveolar ridge hypoplasia of carpal bone hypoplasia of carpal bones hypoplasia of corpus callosum hypoplasia of deltoid muscle hypoplasia of dental enamel hypoplasia of facial musculature hypoplasia of facial skeleton hypoplasia of first rib hypoplasia of first ribs hypoplasia of foramen magnum hypoplasia of hypophseal fossa hypoplasia of inferior vermis hypoplasia of labia majora hypoplasia of labium majora hypoplasia of lingual frenulum hypoplasia of lingual frenum hypoplasia of low jaw hypoplasia of lower jaw hypoplasia of lymphatic vessel hypoplasia of lymphatic vessels hypoplasia of mandibular condyle hypoplasia of olfactory bulb hypoplasia of olfactory tract hypoplasia of parotid gland hypoplasia of pituitary fossa hypoplasia of proximal fibula hypoplasia of proximal radius hypoplasia of right ventricle hypoplasia of sella turcica hypoplasia of supraorbital margin hypoplasia of supraorbital margins hypoplasia of the antihelix hypoplasia of the bladder hypoplasia of the brainstem hypoplasia of the calcaneus hypoplasia of the cochlea hypoplasia of the colon hypoplasia of the diaphragm hypoplasia of the epiglottis hypoplasia of the femora hypoplasia of the femur hypoplasia of the fovea hypoplasia of the gallbladder hypoplasia of the iris hypoplasia of the maxilla hypoplasia of the musculature hypoplasia of the nose hypoplasia of the ovary hypoplasia of the pharynx hypoplasia of the pons hypoplasia of the premaxilla hypoplasia of the prostate hypoplasia of the radius hypoplasia of the retina hypoplasia of the thymus hypoplasia of the tibia hypoplasia of the toe hypoplasia of the tongue hypoplasia of the ulna hypoplasia of the ureter hypoplasia of the uterus hypoplasia of the vagina hypoplasia of tongue frenulum hypoplasia of tongue frenum hypoplasia of tooth enamel hypoplasia of zygomaticomaxillary complex hypoplastic - absent toenail hypoplastic - absent toenails hypoplastic / absent metacarpal hypoplastic / absent metacarpals hypoplastic / absent phalanges hypoplastic / absent phalanx hypoplastic / absent thumb hypoplastic / aplastic femora hypoplastic / aplastic femur hypoplastic / aplastic fibula hypoplastic / aplastic fibulae hypoplastic / small finger hypoplastic / small fingers hypoplastic / small thumb hypoplastic 5th lumbar vertebra hypoplastic 5th lumbar vertebrae hypoplastic bridge of nose hypoplastic distal radial epiphyses hypoplastic distal radial epiphysis hypoplastic female external genitalia hypoplastic index finger phalanges hypoplastic index finger phalanx hypoplastic inferior pubic rami hypoplastic inferior pubic ramus hypoplastic l5 vertebral pedicle hypoplastic male external genitalia hypoplastic middle finger phalanges hypoplastic middle finger phalanx hypoplastic or absent patella hypoplastic or miss rib hypoplastic or missing ribs hypoplastic phalanges of hands hypoplastic phalanx of hand hypoplastic posterior communicate artery hypoplastic posterior communicating arteries hypoplastic posterior communicating artery hypoplastic right heart syndrome hypoplastic terminal thumb phalanx hypoplastic to absent femora hypoplastic to absent femur hypoplastic to aplastic thumb hypoplastic to aplastic thumbs hyporeflexia , low limb hyporeflexia , lower limbs hyporeflexia at ankle joint hyporeflexia at ankle joints hyporeflexia in low limb hyporeflexia in lower limbs hyporeflexia of low limb hyporeflexia of lower limbs hyporeflexia of upper limb hyporeflexia of upper limbs hyposegmentation of neutrophil nuclei hyposegmentation of neutrophil nucleus hypotrichosis of low eyelash hypotrichosis of lower eyelashes hypotrichosis of upper eyelash hypotrichosis of upper eyelashes hypotrophic anterior nasal spine hypotrophic bridge of nose hypotrophic internal carotid artery hypotrophic maxillary lateral incisor hypotrophic tip of nose hypotrophic upper jaw bone hypotrophic upper jaw bones hypotrophic upper lateral incisor hypotrophy of all teeth hypotrophy of the cheekbone hypoxemia in cord blood iga heavy chain paraproteinemia igg heavy chain paraproteinemia igg4 autoimmune antibody positivity igm heavy chain paraproteinemia ileo - cecal ulcer immunodeficiency , severe combine immunodeficiency , severe combined impaired ability to organise impaired ability to organize impaired ability to plan impaired adaptive immune response impaired breathing in newborn impaired distal tactile sensation impaired distal vibration sensation impaired fine motor skill impaired fine motor skills impaired horizontal smooth pursuit impaired horizontal visual pursuit impaired leave ventricular function impaired left ventricular function impaired nasal mucociliary clearance impaired neutrophil bactericidal activity impaired oral bolus formation impaired oropharyngeal swallow response impaired reabsorption of chloride impaired reabsorption of cl impaired renal concentrating ability impaired renal creatinine clearance impaired right ventricular function impaired t cell function impaired visuospatial constructive cognition impairment in personality functioning impairment of fructose metabolism impairment of galactose metabolism impairment of visual pursuit imperfect vocal cord adduction in utero growth retardation inability to heel walk inability to straighten knee inappropriate absence of fever inappropriate antidiuretic hormone secretion inclusion bodies in leukocytes inclusion body in leukocyte incomplete ossification of pubis incoordination of limb movement incoordination of limb movements increase airway neuroendocrine cell increase airway neuroepithelial body increase alpha - globulin increase anterior vertebral height increase antimullerian hormone level increase antral follicle count increase aortic root diameter increase axial globe length increase b cell count increase basal tear production increase beta - lipoprotein increase blood arginine concentration increase blood asparagine concentration increase blood aspartic acid increase blood carnosine concenrtation increase blood cystine concentraions increase blood drug concentration increase blood folate concentration increase blood glutamate concentration increase blood lead level increase blood leukocyte number increase blood manganese concentration increase blood neutrophil count increase blood urea nitrogen increase body fat percentage increase body mass index increase bone mineral density increase breadth of face increase breadth of nose increase breadth of philtrum increase burr cell count increase c peptide level increase calcification of skull increase caudate lactate level increase cerebrospinal fluid lactate increase cerebrospinal fluid urate increase chromosomal breakage rate increase circulate acth level increase circulate amylase level increase circulate androgen concentration increase circulate androgen level increase circulate androstenedione concentration increase circulate antibody level increase circulate apolipoprotein circulation increase circulate arachidonate level increase circulate argininosuccinic acid increase circulate ceruloplasmin concentration increase circulate chylomicron concentration increase circulate chylomicron level increase circulate copper concentration increase circulate corticosterone level increase circulate cortisol level increase circulate docosatetraenoate level increase circulate ethanolamine concentration increase circulate farnesol concentration increase circulate ferritin concentration increase circulate free t3 increase circulate free triiodothyronine increase circulate gaba concentration increase circulate globulin level increase circulate gonadotropin level increase circulate guanosine concentration increase circulate iga level increase circulate igd level increase circulate ige level increase circulate igg level increase circulate igg subclass increase circulate igg1 level increase circulate igg2 level increase circulate igg3 level increase circulate igg4 level increase circulate igm level increase circulate inosine concentration increase circulate interleukin 10 increase circulate interleukin 6 increase circulate interleukin 8 increase circulate ldl level increase circulate metamyelocyte count increase circulate myelocyte count increase circulate myristoleate level increase circulate naa level increase circulate nicotinurate level increase circulate octadecanoate level increase circulate oleate level increase circulate osteocalcin level increase circulate palmitate level increase circulate prealbumin concentration increase circulate precipitin level increase circulate procalcitonin concentration increase circulate procalcitonin level increase circulate prolactin concentration increase circulate purine concentration increase circulate renin level increase circulate selenium concentration increase circulate t4 level increase circulate tg level increase circulate thyroglobulin level increase circulate thyroxine level increase ck after exercise increase csf alanine concentration increase csf albumin concentration increase csf arginine concentration increase csf aspartate concentration increase csf citrulline concentration increase csf glutamate concentration increase csf glutamine concentration increase csf glycine concentration increase csf histidine concentration increase csf homocarnosine concentration increase csf interferon alpha increase csf isoleucine concentration increase csf lactic acid increase csf leucine concentration increase csf lysine concentration increase csf methionine concentration increase csf ornithine concentration increase csf phenylalanine concentration increase csf serine concentration increase csf threonine concentration increase csf tryptophan concentration increase csf tyrosine concentration increase csf urate concentration increase csf valine concentration increase cup disc ratio increase cystatin c level increase deep tendon reflex increase depth of philtrum increase diameter of naris increase diameter of nostril increase distance between eye increase endomysial connective tissue increase erythrocyte osmotic fragility increase erythrocyte protoporphyrin concentration increase erythrocyte sedimentation rate increase extraneuronal autofluorescent lipopigment increase facial adipose tissue increase facial hair growth increase factor ix activity increase factor viii activity increase female sex drive increase fiber size variation increase fibre size variation increase globoside gb3 concentration increase globoside gb3 level increase globoside gb4 concentration increase globoside gb4 level increase glomerular filtration rate increase glomerular mesangial matrix increase haemoglobin o2 affinity increase haemoglobin oxygen affinity increase hb o2 affinity increase hb oxygen affinity increase hdl cholesterol concentration increase heart rate variability increase height of chin increase height of face increase height of nose increase height of philtrum increase hemoglobin o2 affinity increase hemoglobin oxygen affinity increase hepatic glycogen content increase hepatocellular carcinoma risk increase hepatocellular lipid droplet increase in astrocyte number increase international normalised ratio increase international normalized ratio increase intestinal transit time increase intracellular na+ level increase intramyocellular lipid droplet increase lactate dehydrogenase level increase lactate in body increase laxity of ankle increase laxity of finger increase laxity of wrist increase ldl cholesterol concentration increase level of paf increase liver function test increase liver glycogen content increase liver iron level increase mean corpuscular haemoglobin increase mean corpuscular volume increase mean platelet volume increase methionine in blood increase mineralization of skull increase mobility of joint increase multinucleated megakaryocyte count increase muscle glycogen content increase muscle lipid content increase muscle lipid droplet increase neuronal autofluorescent lipopigment increase neutrophil nuclear projection increase nuchal fold thickness increase ossification of mandible increase peripheral blast count increase peripheral myelin thickness increase peripheral myeloblast count increase phosphoribosylpyrophosphate synthetase level increase pigmentation in scrotum increase pivka - ii increase plasma drug concentration increase plasma ldl level increase plasma renin activity increase plasma tg level increase plasma vldl cholesterol increase projection of mandible increase projection of maxilla increase proportion of plasmablast increase protein in csf increase pulmonary artery pressure increase pulmonary fissure count increase pulmonary vascular resistance increase radioactive iodine uptake increase rbc distribution width increase red blood cell increase red cell fragility increase renal medullary echogenicity increase rest energy expenditure increase salivary cortisol level increase serine blood concentration increase serum alkaline phosphatase increase serum creatine kinase increase serum creatine phosphokinase increase serum drug concentration increase serum ferritin level increase serum free t3 increase serum free triiodothyronine increase serum gamma globulin increase serum iduronate sulfatase increase serum interleukin 10 increase serum interleukin 8 increase serum parathyroid hormone increase serum prostaglandin e2 increase serum pyruvic acid increase serum sorbitol concentration increase serum testosterone level increase sickling of erythrocyte increase size of cheek increase size of cranium increase size of eye increase size of forehead increase size of head increase size of incisor increase size of mandible increase size of maxilla increase size of nose increase size of premaxilla increase size of premolar increase size of skull increase size of tongue increase size of tooth increase skeletal muscle cell increase spinal bone density increase stool urobilinogen concentration increase superoxide dismutase level increase susceptibility to fracture increase t cell count increase tendency to fracture increase triceps skinfold thickness increase tryptophan in blood increase tyrosine in blood increase tyrosine in urine increase u wave amplitude increase urinary copper concentration increase urinary cortisol level increase urinary disaccharide excretion increase urinary fucosylated oligosaccharide increase urinary galactose level increase urinary galactosylated oligosaccharide increase urinary homovanillic acid increase urinary phosphoserine level increase urinary vanillylmandelic acid increase urinary zinc level increase urine asparagine level increase urine bicarbonate concentration increase urine citrate concentration increase urine deoxypyridinoline level increase urine glutamate level increase urine harderoporphyrin level increase urine hco3 concentration increase urine isobutyrylglycine concentration increase urine neutrophil count increase urine ntx level increase urine succinate level increase valine in urine increase ventricular natriuretic peptide increase vldl cholesterol concentration increase width of chin increase width of columella increase width of cranium increase width of face increase width of incisor increase width of naris increase width of neck increase width of nose increase width of philtrum increase width of skull increase width of tooth increased airway neuroendocrine cells increased airway neuroepithelial bodies increased alpha - globulin increased anterior vertebral height increased antimullerian hormone level increased antral follicle count increased aortic root diameter increased axial globe length increased b cell count increased basal tear production increased beta - lipoproteins increased blood arginine concentration increased blood asparagine concentration increased blood aspartic acid increased blood carnosine concenrtation increased blood cystine concentraions increased blood drug concentration increased blood folate concentration increased blood glutamate concentration increased blood lead level increased blood leukocyte number increased blood manganese concentration increased blood neutrophil counts increased blood urea nitrogen increased body fat percentage increased body mass index increased bone mineral density increased breadth of face increased breadth of nose increased breadth of philtrum increased burr cell count increased c peptide level increased calcification of skull increased calcium in blood increased caudate lactate level increased cerebrospinal fluid lactate increased cerebrospinal fluid urate increased chromosomal breakage rate increased circulating acth level increased circulating amylase level increased circulating androgen concentration increased circulating androgen level increased circulating androstenedione concentration increased circulating antibody level increased circulating apolipoprotein circulation increased circulating arachidonate level increased circulating argininosuccinic acid increased circulating ceruloplasmin concentration increased circulating chylomicron concentration increased circulating chylomicron levels increased circulating copper concentration increased circulating corticosterone level increased circulating cortisol level increased circulating docosatetraenoate level increased circulating ethanolamine concentration increased circulating farnesol concentration increased circulating ferritin concentration increased circulating free t3 increased circulating free triiodothyronine increased circulating gaba concentration increased circulating globulin level increased circulating gonadotropin level increased circulating guanosine concentration increased circulating iga level increased circulating igd level increased circulating ige level increased circulating igg level increased circulating igg subclass increased circulating igg1 level increased circulating igg2 level increased circulating igg3 level increased circulating igg4 level increased circulating igm level increased circulating inosine concentration increased circulating interleukin 10 increased circulating interleukin 6 increased circulating interleukin 8 increased circulating ldl level increased circulating metamyelocyte count increased circulating myelocyte count increased circulating myristoleate level increased circulating naa level increased circulating nicotinurate level increased circulating octadecanoate level increased circulating oleate level increased circulating osteocalcin level increased circulating palmitate level increased circulating prealbumin concentration increased circulating precipitin level increased circulating procalcitonin concentration increased circulating procalcitonin level increased circulating prolactin concentration increased circulating purine concentration increased circulating renin level increased circulating selenium concentration increased circulating t4 level increased circulating tg levels increased circulating thyroglobulin level increased circulating thyroxine level increased ck after exercise increased csf alanine concentration increased csf albumin concentration increased csf arginine concentration increased csf aspartate concentration increased csf citrulline concentration increased csf glutamate concentration increased csf glutamine concentration increased csf glycine concentration increased csf histidine concentration increased csf homocarnosine concentration increased csf interferon alpha increased csf isoleucine concentration increased csf lactic acid increased csf leucine concentration increased csf lysine concentration increased csf methionine concentration increased csf ornithine concentration increased csf phenylalanine concentration increased csf serine concentration increased csf threonine concentration increased csf tryptophan concentration increased csf tyrosine concentration increased csf urate concentration increased csf valine concentration increased cup disc ratio increased cystatin c level increased deep tendon reflexes increased depth of philtrum increased diameter of nares increased diameter of nostril increased distance between eyes increased endomysial connective tissue increased erythrocyte osmotic fragility increased erythrocyte protoporphyrin concentration increased erythrocyte sedimentation rate increased extraneuronal autofluorescent lipopigment increased facial adipose tissue increased facial hair growth increased factor ix activity increased factor viii activity increased faecal coproporphyrin 1 increased faecal coproporphyrin 3 increased fecal coproporphyrin 1 increased fecal coproporphyrin 3 increased female sex drive increased fiber size variation increased fibre size variation increased frequency of infection increased globoside gb3 concentration increased globoside gb3 level increased globoside gb4 concentration increased globoside gb4 level increased glomerular filtration rate increased glomerular mesangial matrix increased haemoglobin o2 affinity increased haemoglobin oxygen affinity increased hb o2 affinity increased hb oxygen affinity increased hdl cholesterol concentration increased heart rate variability increased height of chin increased height of face increased height of nose increased height of philtrum increased hemoglobin o2 affinity increased hemoglobin oxygen affinity increased hepatic glycogen content increased hepatocellular carcinoma risk increased hepatocellular lipid droplets increased international normalised ratio increased international normalized ratio increased intestinal transit time increased intracellular na+ levels increased intramyocellular lipid droplets increased lactate dehydrogenase level increased lactate in body increased laxity of ankles increased laxity of fingers increased laxity of wrists increased ldl cholesterol concentration increased length of eyelash increased length of eyelashes increased length of face increased length of metacarpal increased length of metacarpals increased length of neck increased length of nose increased length of philtrum increased length of shankbone increased length of shinbone increased length of toe increased length of toes increased level of iga increased level of igd increased level of igg increased level of igm increased level of paf increased levels of iga increased levels of igd increased levels of igg increased levels of igm increased liver function tests increased liver glycogen content increased liver iron level increased mean corpuscular haemoglobin increased mean corpuscular volume increased mean platelet volume increased methionine in blood increased mineralization of skull increased mobility of joints increased multinucleated megakaryocyte count increased muscle glycogen content increased muscle lipid content increased muscle lipid droplets increased neuronal autofluorescent lipopigment increased neutrophil nuclear projections increased nuchal fold thickness increased number of teeth increased ossification of mandible increased peripheral blast count increased peripheral myelin thickness increased peripheral myeloblast count increased phosphoribosylpyrophosphate synthetase level increased pigmentation in scrotum increased pivka - ii increased plasma drug concentration increased plasma ldl levels increased plasma renin activity increased plasma tg levels increased plasma vldl cholesterol increased projection of mandible increased projection of maxilla increased proportion of plasmablasts increased protein in csf increased pulmonary artery pressure increased pulmonary fissure count increased pulmonary vascular resistance increased radioactive iodine uptake increased rbc distribution width increased red blood cells increased red cell fragility increased renal medullary echogenicity increased resting energy expenditure increased salivary cortisol level increased serine blood concentration increased serum alkaline phosphatase increased serum creatine kinase increased serum creatine phosphokinase increased serum drug concentration increased serum ferritin level increased serum free t3 increased serum free triiodothyronine increased serum gamma globulin increased serum iduronate sulfatase increased serum interleukin 10 increased serum interleukin 8 increased serum parathyroid hormone increased serum prostaglandin e2 increased serum pyruvic acid increased serum sorbitol concentration increased serum testosterone level increased serum testosterone levels increased sickling of erythrocytes increased size of cheeks increased size of cranium increased size of eyes increased size of forehead increased size of head increased size of incisor increased size of mandible increased size of maxilla increased size of nose increased size of premaxilla increased size of premolar increased size of skull increased size of tongue increased size of tooth increased skeletal muscle cells increased spinal bone density increased stool urobilinogen concentration increased superoxide dismutase level increased susceptibility to fractures increased t cell count increased tendency to fractures increased thickness of calvaria increased thickness of calvarium increased thickness of cranium increased triceps skinfold thickness increased tryptophan in blood increased tyrosine in blood increased tyrosine in urine increased u wave amplitude increased urinary copper concentration increased urinary cortisol level increased urinary disaccharide excretion increased urinary fucosylated oligosaccharide increased urinary galactose level increased urinary galactosylated oligosaccharide increased urinary homovanillic acid increased urinary phosphoserine level increased urinary vanillylmandelic acid increased urinary zinc level increased urine asparagine level increased urine bicarbonate concentration increased urine citrate concentration increased urine deoxypyridinoline level increased urine glutamate level increased urine harderoporphyrin level increased urine hco3 concentration increased urine isobutyrylglycine concentration increased urine neutrophil count increased urine ntx level increased urine succinate level increased valine in urine increased ventricular natriuretic peptide increased vldl cholesterol concentration increased volume of lip increased width of chin increased width of columella increased width of cranium increased width of face increased width of incisor increased width of nares increased width of neck increased width of nose increased width of philtrum increased width of skull increased width of tooth indent bridge of nose indented bridge of nose infantile sensorineural hearing impairment infantile sensorineural hearing loss infection - related seizure infection - ssociated lymphocytopenia infection - ssociated lymphopenia infection follow live vaccination infection following live vaccination infection in blood stream inferior mesenteric artery aneurysm inferior oblique muscle overaction inferior oblique muscle restriction inferior oblique muscle underaction inferior oblique muscle weakness inferior rectus muscle overaction inferior rectus muscle restriction inferior rectus muscle underaction inferior rectus muscle weakness inflammation of adipose tissue inflammation of blood vessel inflammation of fat tissue inflammation of heart muscle inflammation of oral commisures inflammation of sharpey fiber inflammation of sharpey fibers inflammation of sharpey fibre inflammation of sharpey fibres inflammation of spinal cord inflammation of the esophagus inflammation of the fascia inflammation of the ileum inflammation of the lip inflammation of the lips inflammation of the mouth inflammation of the oesophagus inflammation of the peritoneum inflammation of the prostate inflammation of the tongue infra - orbital crease infra - orbital fold infundibular ventricular septal defect inlet ventricular septal defect instability of ocular fixation insulin - resistant diabetes insulin receptor antibody positivity insulin resistant diabetes mellitus intellectual disability , borderline intellectual disability , mild intellectual disability , moderate intellectual disability , profound intellectual disability , progressive intellectual disability , severe interlobular artery medial atrophy interlobular artery medial hypertrophy interlobular bile duct destruction interlobular vein medial atrophy interlobular vein medial hypertrophy intermediate atrioventricular canal defect intermediate atrioventricular septal defect intermittent high blood pressure intermittent hyperpnea at rest intermittent involuntary muscle spasm intermittent painful muscle spasm intermittent painful muscle spasms intermittent yellowing of skin internal carotid artery calcification internal carotid artery dissection internal carotid artery hypoplasia interphalangeal joint flexion contracture interphalangeal joint flexion contractures intestinal lymphoid nodular hyperplasia intestinal pseudo - obstruction intra - abdominal adhesion intra - epidermal blistering intra - oral hyperpigmentation intra - retinal fluid intrahepatic bile duct cyst intrahepatic bile duct cysts intrahepatic bile duct dilatation intrahepatic portal vein sclerosis intralamellar aortic medial fibrosis intramyocardial coronary artery course intratubular calcium oxalate cast intratubular calcium oxalate casts intratubular calcium phosphate cast intratubular calcium phosphate casts intrinsic hand muscle atrophy intrinsic hand muscle weakness involuntary closure of eyelid involuntary facial muscle spasm involuntary facial muscle spasms involuntary shaking of limb inward turn cross eye inward turn middle finger inward turned middle finger inward turning cross eyed iq less than 20 iridescent posterior subcapsular cataract iron - deficiency anaemia iron - deficiency anemia iron accumulation in brain irregular ankle bone maturation irregular capital femoral epiphyses irregular capital femoral epiphysis irregular central macular autofluorescence irregular distal femoral epiphysis irregular distal femoral metaphyses irregular hyperpigmentation of back irregular lacy iliac crest irregular metaphyses of elbow irregular proximal femoral epiphyses irregular proximal femoral epiphysis irregular proximal femoral metaphyses irregular proximal humeral metaphyses irregular proximal tibial epiphyses irregular proximal tibial epiphysis irregular thighbone end part irregular visual pursuit movement irregular visual pursuit movements irregularity of vertebral bodies irregularity of vertebral body irregularly shaped sperm tail islet of langerhans hyperplasia islet of langerhans hypertrophy islets of langerhans hypertrophy issue with muscle function issue with muscle structure j - shape sella j - shaped sella jaw joint click sound jaw joint clicking sound jaw joint grate sound jaw joint grating sound jaw joint pop sound jaw joint popping sound jaw pain while chew jaw pain while chewing jerking of facial muscle jerking of facial muscles jerky ocular pursuit movement jerky ocular pursuit movements joint contracture , progressive joint contractures , progressive joint laxity , generalise joint laxity , generalised joint laxity , generalize joint laxity , generalized juvenile epithelial corneal dystrophy kappa bence jones proteinuria kayser - fleischer ring keratocysts of the jaw ketone bodies in urine ketone body in urine ketotic low blood sugar kinky scalp hair texture klebsiella infection , recurrent klebsiella infections , recurrent klippel - feil anomaly klippel - feil syndrome knee joint valgus deformity lack of bowel sound lack of bowel sounds lack of eyebrow arch lack of eyebrow curvature lack of facial expression lack of language development lack of peer relationship lack of peer relationships lack of psychomotor development lack of skin coloration lack of skin elasticity lack of spontaneous play lack of sternal ossification lack of sweat gland lack of sweat glands lack of thymic shadow lacrimal punctum , absence lacrimal punctum , duplication lacunar halo around chondrocytes lacunar halos around chondrocytes lambda bence jones proteinuria lamellar cataract with rider lamellar cataract with riders large cavum septi pellucidi large cell lung carcinoma large distal femoral epiphyses large distal femoral epiphysis large elongate pulp chamber large elongated pulp chamber large for gestational age large half of tongue large hyperpigmented retinal spot large hyperpigmented retinal spots large lateral palatal fold large lateral palatal folds large lateral palatal ridge large lateral palatal ridges large of palpebral fissure large of palpebral fissures large open anterior fontanel large open anterior fontanelle large primary palate bone large sternal ossification center large sternal ossification centers large sternal ossification centre large sternal ossification centres large tip of nose late - closing fontanelle late closure of fontanelle late eruption of teeth late onset atopic dermatitis late onset baby eczema late onset congenital glaucoma late sensorineural hearing loss late spermatogenesis maturation arrest lateral canthal tendon laxity lateral deviation of halluces lateral deviation of hallux lateral deviation of toe lateral deviation of toes lateral displacement of patella lateral displacement of patellae lateral humeral condyle aplasia lateral hypoplasia of eyebrow lateral hypoplasia of eyebrows lateral rectus muscle overaction lateral rectus muscle restriction lateral rectus muscle underaction lateral rectus muscle weakness lateral thinning of eyebrow lateral thinning of eyebrows laterally build up nose laterally built up nose laterally deficient tibial plateau laterally deficient tibial plateaux laterally displace fifth finger laterally displaced femoral head laterally displaced femoral heads laterally displaced fifth finger laterally slop humeral metaphysis laterally sloping humeral metaphysis leave anterior fascicular block leave bundle branch block leave posterior fascicular block leave ventricular diastolic dysfunction leave ventricular noncompaction cardiomyopathy leave ventricular systolic dysfunction leave ventricular wall hypertrophy leber optic atrophy feature leber optic atrophy features left - side isomerism left - sided isomerism left anterior fascicular block left bundle branch block left posterior fascicular block left ventricular diastolic dysfunction left ventricular noncompaction cardiomyopathy left ventricular systolic dysfunction left ventricular wall hypertrophy legg - perthes disease length dependent motor neuropathy lesion of oral cavity lesion of the eyelid lethal infantile mitochondrial myopathy levator palpebrae superioris atrophy lhermitte - duclos disease libman - sack lesion libman - sacks lesions lid lag on downgaze light - chain paraproteinemia limb - girdle myopathy limb girdle muscular dystrophy limbal stem cell deficiency limitation of elbow extension limitation of joint mobility limitation of knee mobility limitation of neck motion limited extension at elbow limited extension at elbows limited gross motor development limited lateral neck flexion lingual aplasia / hypoplasia lipid - laden histiocyte lipid - laden histiocytes lipid accumulation in hepatocytes lipid accumulation in macula lipoma of corpus callosum lipoma of the tongue lipopigment in extraneuronal cell lipopigment in extraneuronal cells lissencephaly , type i liver dysfunction , mild lobe , forward face lobe , forward facing lobular carcinoma in situ localise abnormal hair growth localised abnormal hair growth localize abnormal hair growth localized abnormal hair growth long , narrow head long , slender finger long , slender fingers long - lasting pain long - tract sign long - tract signs long innermost finger bone long maxillary central incisor long maxillary central incisors long phalanx of finger long term memory impairment long term memory loss longitudinal groove on sol longitudinal groove on soles longitudinal splitting of nail loose and inelastic skin loss in color vision loss in colour vision loss of articulate speech loss of bladder control loss of bowel control loss of brain cell loss of brain cells loss of corticomedullary differentiation loss of developmental milestone loss of developmental milestones loss of distal sensation loss of expressive speech loss of facial expression loss of facial fat loss of fat tissue loss of foveal reflex loss of hair color loss of hair colour loss of myelinated fiber loss of myelinated fibers loss of myelinated fibre loss of myelinated fibres loss of peripheral vision loss of renal function loss of tactile sensation loss of temperature sensation loss of visual acuity lou gehrig 's disease loud first heart sound low - grade fever low - hanging columella low - set ear low - set ears low - set nipple low - set nipples low - set pinna low - set pinnae low - set thumb low - set umbilicus low b cell count low blood alanine level low blood alanine levels low blood aldosterone level low blood arginine level low blood arginine levels low blood asparagine level low blood asparagine levels low blood calcium level low blood calcium levels low blood carnosine level low blood carnosine levels low blood cell count low blood chloride level low blood chloride levels low blood cortisol level low blood creatinine level low blood cystine level low blood cystine levels low blood glutamate level low blood glutamate levels low blood glutamine level low blood glycine level low blood glycine levels low blood histidine level low blood histidine levels low blood isoleucine level low blood isoleucine levels low blood leucine level low blood leucine levels low blood lysine level low blood lysine levels low blood magnesium level low blood magnesium levels low blood mg level low blood mg levels low blood monocyte number low blood neutrophil count low blood ornithine level low blood ornithine levels low blood oxygen level low blood phosphate level low blood potassium level low blood potassium levels low blood proline concentration low blood serine level low blood serine levels low blood sodium level low blood sodium levels low blood threonine concentration low blood triglyceride level low blood triglyceride levels low blood tryptophan concentration low blood tyrosine concentration low blood valine concentration low brain creatine phosphate low cholesterol esterification rate low cranial nerve dysfunction low csf total protein low extremity joint dislocation low eyelid fold out low eyelid turn out low facial muscle tone low factor ii activity low factor ix activity low factor xi activity low fatty acid level low fatty acids level low femoral bone density low femur bone density low front shark tooth low hang nasal septum low hang nasal tip low hanging nasal septum low hanging nasal tip low hdl - cholesterol low insertion of columella low intestinal alkaline phosphatase low jaw bone infection low leukocyte alkaline phosphatase low limb muscle hypotrophy low limb muscle weakness low maternal serum estriol low maternal serum hcg low motor neuron disease low motor neuron manifestation low motor neuron sign low neutrophil alkaline phosphatase low placental alkaline phosphatase low plasma renin activity low pneumococcal antibody titer low posterior hair line low respiratory tract infection low serum testosterone level low serum testosterone levels low t cell count low thoracic interpediculate narrowness low urine calcium level low urine calcium levels low urine chloride level low urine chloride levels low urine magnesium level low urine magnesium levels low urine phosphate level low urine phosphate levels low urine potassium level low urine potassium levels low urine sodium level low urine sodium levels lower cranial nerve dysfunction lower extremity joint dislocation lower eyelid folded out lower eyelid turned out lower front shark tooth lower jaw bone infection lower limb muscle hypotrophy lower limb muscle weakness lower motor neuron disease lower motor neuron manifestations lower motor neuron signs lower respiratory tract infections lower thoracic interpediculate narrowness lozenge - shape umbilicus lozenge - shaped umbilicus lumbar / sacral hemangioma lumbar kyphosis in infancy lumbar spinal canal stenosis lunate - triquetral fusion lymphangioma of the orbit lymphoid germinal center defect lymphoid germinal centre defect maceration of the skin macrosquare - wave jerk macrosquare - wave jerks macular cherry red spot macular cotton wool spot macular microaneurysm / hemorrhage magnesium ammonium phosphate crystalluria malabsorption of vitamin b12 maldevelopment of radioulnar joint male reproductive system neoplasm male urethral meatus stenosis malformation of brainstem structure malformation of brainstem structures malformation of craniofacial shape malformation of cranium shape malformation of dental enamel malformation of facial bone malformation of facial bones malformation of facial skeleton malformation of head shape malformation of hypophysial fossa malformation of jaw joint malformation of low premolar malformation of lower premolar malformation of mandibular bicuspid malformation of mandibular premolar malformation of nasal base malformation of nasal cartilage malformation of pituitary fossa malformation of sella turcica malformation of skull shape malformation of the cheek malformation of the cheeks malformation of the chin malformation of the columella malformation of the forehead malformation of the mandible malformation of the maxilla malformation of the midface malformation of the nares malformation of the naris malformation of the neck malformation of the nose malformation of the nostril malformation of the nostrils malformation of tooth enamel malignant connective tissue tumor malignant connective tissue tumour malignant gastrointestinal tract tumor malignant gastrointestinal tract tumors malignant gastrointestinal tract tumour malignant gastrointestinal tract tumours malignant genitourinary tract tumor malignant genitourinary tract tumour malignant gi tract tumor malignant gi tract tumors malignant gi tract tumour malignant gi tract tumours malignant gu tract tumor malignant gu tract tumour malignant hyperthermia with anaesthesia malignant hyperthermia with anesthesia mallory - wei tear mallory - weiss tear malposition of the stomach malrotation of small bowel malrotation of the kidney marginal umbilical cord insertion marked failure to thrive marked shortening of tibia markedly retard bone age markedly retarded bone age mask - like facies mass on thoracic imaging mastoid process poorly pneumatized mastoid processes poorly pneumatized maternal anticardiolipin antibody positive maternal fever during labor maternal fever during labour maternal fever during pregnancy maternal fever in pregnancy maternal first trimester fever maternal virilization in pregnancy mature cystic ovarian teratoma maxillary lateral incisor microdontia meconium ileus in neonate meconium ileus in neonates meconium ileus on ultrasonography meconium stain amniotic fluid meconium stained amniotic fluid medial broadening of eyebrow medial broadening of eyebrows medial canthal tendon laxity medial deviation of toe medial deviation of toes medial hypertrophy within arteriole medial hypertrophy within arterioles medial rectus muscle overaction medial rectus muscle restriction medial rectus muscle underaction medial rectus muscle weakness medial thinning of eyebrow medial widening of clavicle medial widening of clavicles medially deficient radial epiphyses medially deficient radial epiphysis medially deviate index finger medially deviate second toe medially deviated index finger medially deviated second toe medially flatten radial epiphysis medially flattened radial epiphyses medially slop radial epiphysis medially slop radial metaphysis medially sloping radial epiphyses medially sloping radial metaphysis median arcuate ligament syndrome median prosencephalic arteriovenous fistula medium chain dicarboxylic aciduria medullary sponge kidney disease membranoproliferative glomerulonephritis type ii membranous subvalvular aortic stenosis membranous supravalvular mitral stenosis membranous ventricular septal aneurysm membranous ventricular septal defect mental and motor retardation mental deterioration in childhood mental retardation , borderline mental retardation , mild mental retardation , moderate mental retardation , nonspecific mental retardation , profound mental retardation , progressive mental retardation , severe merkel cell skin cancer mesangial immune complex deposition mesangial proliferative lupus nephritis mesial parasagittal subcortical heterotopia mesomelic low limb shorten mesomelic lower limb shortening mesomelic shortening of limb mesomelic shortening of limbs metacarpal / metaphyseal cup metacarpal / metaphyseal cupping metacarpal aplasia / hypoplasia metacarpal diaphyseal endosteal sclerosis metallic taste in mouth metaphyseal chondromatosis of femur metaphyseal chondromatosis of humerus metaphyseal chondromatosis of radius metaphyseal chondromatosis of tibia metaphyseal chondromatosis of ulna metaphyseal cupping of metacarpal metaphyseal cupping of metacarpals metatarsal diaphyseal endosteal sclerosis methionine synthase activity decrease methionine synthase activity decreased michaelis - gutmann bodies michaelis - gutmann body microcephaly present at birth microcolon on contrast enema microdontia of deciduous teeth microdontia of primary teeth micrognathia of low jaw micrognathia of lower jaw microtia , first degree microtia , second degree microtia , third degree middle cerebral artery calcification middle cerebral artery stenosis middle cerebral artery stroke midline cleft of mandible midline cleft of nose midline defect of chin midline defect of mandible midline facial capillary hemangioma midline sinus of philtrum midnasal atresia or stenosis mild conductive hearing impairment mild expressive language delay mild global developmental delay mild intrauterine growth retardation mild neurosensory hearing impairment mild neurosensory hearing loss mild postnatal growth retardation mild prenatal growth deficiency mild receptive language delay mildly elevate serum ck mildly elevate serum cpk mildly elevated creatine kinase mildly elevated creatine phosphokinase mildly elevated serum ck mildly elevated serum cpk mildly increased creatine kinase mildly reduce contrast sensitivity mildly reduce ejection fraction mildly reduce visual acuity mildly reduced contrast sensitivity mildly reduced ejection fraction mildly reduced visual acuity milk - like serum minimal mesangial lupus nephritis mirror image foot polydactyly mirror image hand polydactyly miss bridge of nose miss cartilage of nose miss cupid 's bow miss first permanent molar miss globe of eye miss low central incisor miss low front tooth miss low lateral incisor miss mandibular central incisor miss mandibular lateral incisor miss maxillary central incisor miss maxillary lateral incisor miss part of vertebra miss primary palate bone miss second permanent molar miss six year molar miss some baby teeth miss some milk teeth miss some primary teeth miss twelve year molar miss upper central incisor miss upper front tooth miss upper jaw bone miss upper lateral incisor missing bridge of nose missing cartilage of nose missing cupid 's bow missing first permanent molar missing globe of eye missing lower central incisor missing lower front tooth missing lower lateral incisor missing mandibular central incisor missing mandibular lateral incisor missing maxillary central incisor missing maxillary lateral incisor missing part of vertebrae missing primary palate bone missing second permanent molar missing six year molar missing some baby teeth missing some milk teeth missing some primary teeth missing twelve year molar missing upper central incisor missing upper front tooth missing upper jaw bones missing upper lateral incisor mitochondrial lysine transport defect mitochondrial malic enzyme reduce mitochondrial malic enzyme reduced mitochondrial respiratory chain defect mitochondrial respiratory chain defects mitral regurgitation , mild mitral valve leaflet calcification mizuo - nakamura phenomenon mobitz i atrioventricular block mobitz ii atrioventricular block moderate conductive hearing impairment moderate expressive language delay moderate global developmental delay moderate intrauterine growth retardation moderate postnatal growth retardation moderate receptive language delay moderate sensorineural hearing impairment moderately elevate serum ck moderately elevate serum cpk moderately elevated serum ck moderately elevated serum cpk moderately reduce contrast sensitivity moderately reduce ejection fraction moderately reduce visual acuity moderately reduced contrast sensitivity moderately reduced ejection fraction moderately reduced visual acuity molar shape of bicuspid molar shape of premolar monkey wrench femoral neck monoclonal elevation of igg monoclonal immunoglobulin m proteinemia morbus osgood - schlatter more active than typical more groove in brain more grooves in brain more teeth than normal morning glory disc anomaly morning glory optic disc mosaic central corneal dystrophy mosaic pulmonary attenuation pattern motor and developmental delay mucoid extracellular matrix accumulation multi - lobulated spleen multicentric femoral head ossification multifocal neonatal sequential seizure multinucleated visceral epithelial cell multinucleated visceral epithelial cells multiple , subcutaneous nodule multiple , subcutaneous nodules multiple adenomatous colon polyp multiple adenomatous colon polyps multiple bile duct hamartoma multiple bile duct hamartomas multiple bony cystic lesion multiple bony cystic lesions multiple carpal ossification center multiple carpal ossification centers multiple carpal ossification centre multiple carpal ossification centres multiple colonic adenomatous polyp multiple colonic adenomatous polyps multiple deep venous thrombosis multiple intervertebral disc calcification multiple intervertebral disc calcifications multiple intervertebral disk calcification multiple intervertebral disk calcifications multiple mitochondrial dna deletion multiple mitochondrial dna deletions multiple renal cortical microcysts multiple row of eyelash multiple rows of eyelashes multiple small bowel atresia multiple small bowel atresias multiple small vertebral fracture multiple small vertebral fractures multiple unerupted adult teeth multiple unerupted permanent teeth muscle atrophy , diffuse muscle atrophy , distal muscle atrophy , generalise muscle atrophy , generalised muscle atrophy , generalize muscle atrophy , generalized muscle atrophy , neurogenic muscle atrophy , proximal muscle cramp follow exercise muscle cramp on exercise muscle cramp on exertion muscle cramp with exertion muscle cramps following exercise muscle cramps on exercise muscle cramps on exertion muscle cramps with exertion muscle fiber cytoplasmic bodies muscle fiber cytoplasmic body muscle fiber hyaline bodies muscle fiber hyaline body muscle fiber inclusion bodies muscle fiber inclusion body muscle fiber tubular aggregate muscle fiber tubular aggregates muscle fiber tubular inclusion muscle fiber tubular inclusions muscle fiber tubuloreticular aggregate muscle fiber tubuloreticular aggregates muscle fiber tubuloreticular inclusion muscle fiber tubuloreticular inclusions muscle fibre cytoplasmic bodies muscle fibre cytoplasmic body muscle fibre hyaline bodies muscle fibre hyaline body muscle fibre inclusion bodies muscle fibre inclusion body muscle fibre tubular aggregate muscle fibre tubular aggregates muscle fibre tubular inclusion muscle fibre tubular inclusions muscle fibre tubuloreticular aggregate muscle fibre tubuloreticular aggregates muscle fibre tubuloreticular inclusion muscle fibre tubuloreticular inclusions muscle pain on exercise muscle pain with exercise muscle spasm of face muscle stiffness with exercise muscle twitch in eyelid muscle twitches in eyelid muscle weakness , diffuse muscle weakness , distal muscle weakness , generalise muscle weakness , generalised muscle weakness , generalize muscle weakness , generalized muscle weakness , progressive muscle weakness , proximal muscle weakness between rib muscle weakness between ribs muscular atrophy , generalise muscular atrophy , generalised muscular atrophy , generalize muscular atrophy , generalized muscular dystrophy , congenital muscular subvalvular aortic stenosis muscular ventricular septal aneurysm muscular ventricular septal defect music - induced seizure myalgia of pelvic floor myasthenia of facial muscle myasthenia of facial muscles mycobacterium abscessus abscessus infection myelin - dependent gliosis myeloid / lymphoid leukaemia myeloid / lymphoid leukemia myocardial immune cell infiltration myocardial late gadolinium enhancement myocardial multinucleated giant cell myocardial multinucleated giant cells myoclonic - astatic seizure myoclonic absence status epilepticus myoclonic epilepsy , progressive myoclonus of facial muscle myoclonus of facial muscles myotonia of the face myotonia of the jaw myxomatous mitral valve degeneration nail aplasia / hypoplasia nappy scalp hair texture narrow base of nose narrow bridge of nose narrow carpal joint space narrow carpal joint spaces narrow cervical spinal canal narrow dorsum of nose narrow external auditory canal narrow external auditory canals narrow external auditory meatus narrow great sacrosciatic notch narrow great sciatic notch narrow greater sacrosciatic notches narrow greater sciatic notch narrow internal auditory canal narrow intervertebral disc space narrow intervertebral disc spaces narrow lumbar spinal canal narrow roof of mouth narrow septum of nose narrow thoracolumbar interpediculate distance narrow tip of nose narrow upper jaw bone narrow upper jaw bones narrow vertebral interpedicular distance narrowed greater sciatic notch narrowing of an artery narrowing of anal opening narrowing of aortic valve narrowing of carotid artery narrowing of coronary artery narrowing of interpediculate distance narrowing of interpediculate distances narrowing of kidney artery narrowing of lung artery narrowing of medullary canal narrowing of pulmonic valve narrowing of small intestine narrowing of the aorta narrowing of the colon narrowing of the esophagus narrowing of the oesophagus narrowing of the ureter narrowing of the urethra nasal , dysarthic speech nasal - septum perforation nasal bridge , narrow nasal bridge , thin nasal bridge , wide nasal mucous membrane telangiectasia nasal ridge , wide nasal tip , broad nasal tip , depress nasal tip , depressed nasal tip , deviate nasal tip , deviated nasal tip , narrow nasal tip , overhang nasal tip , overhanging nasal tip , pinch nasal tip , pinched nasal tip , recess nasal tip , recessed nasal tip , retruded nasal tip , upturned nasal tip , wide naso - frontal encephalocele nasolabial crease , hypoplastic nasolabial crease , prominent nasolabial crease , underdevelop nasolabial crease , underdeveloped nasolabial fold , hypoplastic neck flexor muscle weakness necklace skeletal muscle fiber necklace skeletal muscle fibers necklace skeletal muscle fibre necklace skeletal muscle fibres needle - shape cataract needle - shaped cataract negative nbt reduction test neonatal bilateral clonic seizure neonatal cholestatic liver disease neonatal electroclinical clonic seizure neonatal electroclinical myoclonic seizure neonatal electroclinical sequential seizure neonatal electrographic only seizure neonatal focal clonic seizure neonatal focal myoclonic seizure neonatal focal tonic seizure neonatal multifocal clonic seizure neonatal multifocal myoclonic seizure neonatal unilateral epileptic spasm neoplasia of the breast neoplasia of the eye neoplasia of the gallbladder neoplasia of the kidney neoplasia of the kidneys neoplasia of the lip neoplasia of the nasopharynx neoplasia of the nose neoplasia of the pancreas neoplasia of the penis neoplasia of the pharynx neoplasia of the pleura neoplasia of the scrotum neoplasia of the skin neoplasia of the stomach neoplasia of the ureter neoplasia of the ureters neoplasia of the urethra neoplasm by anatomical site neoplasm of fatty tissue neoplasm of striated muscle neoplasm of the adenohypophysis neoplasm of the breast neoplasm of the cns neoplasm of the colon neoplasm of the ear neoplasm of the eye neoplasm of the gallbladder neoplasm of the heart neoplasm of the larynx neoplasm of the lip neoplasm of the liver neoplasm of the lung neoplasm of the mouth neoplasm of the nail neoplasm of the nasopharynx neoplasm of the neurohypophysis neoplasm of the nose neoplasm of the ovaries neoplasm of the ovary neoplasm of the pancreas neoplasm of the penis neoplasm of the pharynx neoplasm of the rectum neoplasm of the scrotum neoplasm of the skin neoplasm of the stomach neoplasm of the thymus neoplasm of the tongue neoplasm of the trachea neoplasm of the ureter neoplasm of the urethra neoplasm of the vulva neovascularization of the iris neuro - degenerative disease neurologic deterioration , progressive neuronal loss in cns night blindness , congenital night blindness , stationary night blindness since birth nipple absent or rudimentary nipples absent or rudimentary no auditory brainstem response no globe of eye nodular transformation of liver nodule below the skin non - accomodative esotropia non - detectable vep non - fluent aphasia non - gap acidosis non - hodgkin lymphoma non - infectious meningitis non - itchy hive non - itchy hives non - motor seizure non - necrotizing granuloma non - obstructive azoospermia non - pruritic urticaria non - spinning vertigo non cirrhotic portal fibrosis nonbullous congenital ichthyosiform erythroderma noninsulin - dependent diabetes noninsulin dependent diabetes mellitus nonocclusive coronary artery atherosclerosis nonocclusive coronary artery disease nonocclusive coronary artery stenosis nonpapillary renal cell carcinoma nonprogressive restrictive external ophthalmoplegia nontuberculous mycobacterial pulmonary infection normal - pressure hydrocephalus notch front baby tooth notch front deciduous tooth notch front primary tooth notch of alveolar process notch of alveolar ridge notch of gum ridge notched front baby tooth notched front deciduous tooth notched front primary tooth notched primary central incisor notched terminal thumb phalanx notched tip of nose notching of thumb phalanges notching of thumb phalanx numerous congenital melanocytic nevi numerous congenital melanocytic nevus nut food product allergy nystagmus , congenital horizontal nystagmus , continuous pendular o2 desaturation on exertion oat cell lung cancer obsessive - compulsive behavior obsessive - compulsive behaviour obsessive - compulsive disorder obsessive - compulsive trait obsessive - compulsive traits obstruction in digestive tract obstruction of bladder outlet obstruction of eustachian tube obtuse angle of mandible occipital predomimant classic pachygyria occipital subcortical band heterotopia ocular anterior chamber abnormality ocular anterior segment dysgenesis oedema of the cerebellum oedema of the eyelid oedema of the eyelids oedema of the thalamus oligoclonal t cell expansion oligodontia of primary teeth omega shape hypophysial fossa omega shape pituitary fossa omega shape sella turcica omega shaped hypophysial fossa omega shaped pituitary fossa omega shaped sella turcica one side cleft palate one sided cleft palate onycholysis of distal fingernail onycholysis of distal fingernails opening in parietal bone openings in parietal bones optic - nerve degeneration optic nerve arteriovenous malformation optic nerve gray crescent optic nerve grey crescent optic nerve head drusen optic nerve sheath meningioma opto - chiasmatic atrophy oral - pharyngeal dysphagia oral idiopathic white patch oral mucosa epithelial hyperplasia oral mucosa melanin pigmentation oral soft tissue hyperplasia oropharyngeal squamous cell carcinoma orthodromic atrioventricular reentrant tachycardia osseous syndactyly of toe osseous syndactyly of toes ossification defect of skull osteoarthritis of the elbow osteolysis involve metatarsal bone osteolysis involve tarsal bone osteolysis involving metatarsal bones osteolysis involving tarsal bones osteolytic defect of bone osteolytic defects of bones osteosclerosis , diffuse symmetrical osteosclerosis of the clavicle osteosclerosis of the clavicles osteosclerosis of the radius osteosclerosis of the ulna otitis media , chronic otitis media , recurrent otitis media with effusion otitis medium , chronic otitis medium , recurrent otitis medium with effusion outward bow - leggedness outward bow at knee outward bowing at knees outward face eye ball outward facing eye ball outward turn low lip outward turn upper lip outward turned lower lip outward turned upper lip oval transradiancy of humerus over - folded helices over - folded helix overactive low leg reflex overactive lower leg reflex overfolding of superior helix overgrowth of alveolar ridge overgrowth of calf bone overgrowth of calvarial bone overgrowth of calvarial bones overgrowth of craniofacial bone overgrowth of craniofacial bones overgrowth of external genitalia overgrowth of facial bone overgrowth of facial bones overgrowth of facial skeleton overgrowth of gum ridge overgrowth of mandibular bone overgrowth of neck muscle overgrowth of neck muscles overgrowth of one arm overgrowth of one leg overgrowth of skull bone overgrowth of skull bones overgrowth of the midface overlap upper front teeth overlapped upper front teeth oxygen desaturation on exertion p - anca positivity pain between shoulder blade pain between shoulder blades pain in the ear pain under knee cap painful or difficult urination palate high - arch palate high - arched palmar and plantar keratoderma palmoplantar keratoderma , patchy pancreatic islet cell adenoma pancreatic squamous cell carcinoma papillary carcinoma of thyroid papillary renal cell carcinoma papulo - vesicular eruption paradoxical splitting of s2 paramembranous ventricular septal defect paroxysmal burst of laughter paroxysmal bursts of laughter paroxysmal involuntary eye movement paroxysmal involuntary eye movements partial abdominal muscle agenesis partial absence of eyelash partial absence of eyelashes partial absence of finger partial absence of foot partial absence of isohemagglutinins partial absence of thumb partial absence of toe partial absent skin pigmentation partial atrioventricular canal defect partial beta - eeg partial corpus callosum agenesis partial duplication of eyebrow partial duplication of eyebrows partial duplication of hallux partial functional adipsin deficiency partial fusion of carpal partial fusion of carpals partial fusion of tarsal partial fusion of tarsals partial knee cap dislocation partial paralysis of leg partial paralysis of legs partial thromboplastin time prolong partial thromboplastin time prolonged partial unilateral facial paresis patch of white hair patchy distortion of vertebra patchy distortion of vertebrae patchy hypopigmentation of hair patellar aplasia / hypoplasia pear - shape nose pear - shape vertebra pear - shaped nose pear - shaped vertebrae pectoralis major muscle hypoplasia pectus excavatum / carinatum pectus excavatum or carinatum peg - shape teeth peg - shape tooth peg - shaped incisor peg - shaped incisors peg - shaped teeth peg - shaped tooth peg shape front tooth peg shape mandibular incisor peg shape primary incisor peg shaped front tooth peg shaped mandibular incisor peg shaped primary incisor pelger - huet anomaly pelvic girdle muscle atrophy pelvic girdle muscle waste pelvic girdle muscle wasting pelvic girdle muscle weakness perforation of the colon pericardial late gadolinium enhancement perifascicular muscle fiber atrophy perifascicular muscle fibre atrophy perifoveal ring of hyperautofluorescence perimembraneous ventricular septal defect perimembranous ventricular septal defect perinuclear antineutrophil antibody positivity peripheral artery occlusive disease peripheral cystoid retinal degeneration peripheral nervous system disease peripheral primitive neuroectodermal neoplasm peripheral pulmonary artery stenosis peripheral pulmonary vessel aplasia peripheral sensory axonal neuropathy peripheral traction retinal detachment peripheral tractional retinal detachment peripheral visual field loss periventricular gray matter heterotopia periventricular grey matter heterotopia periventricular white matter abnormalities periventricular white matter abnormality periventricular white matter hyperintensities periventricular white matter hypodensities permanent junctional reciprocating tachycardia persistence of deciduous teeth persistence of haemoglobin f persistence of hemoglobin f persistence of primary teeth persistent bleeding after trauma persistent cavum septum pellucidum persistent fencer 's reflex persistent fetal fingertip pad persistent fetal fingertip pads persistent foetal fingertip pad persistent foetal fingertip pads persistent human papillomavirus infection persistent hyperplastic primary vitreous persistent hypertrophic primary vitreous persistent nutritive suckle swallow persistent open anterior fontanelle persistent open cranial suture persistent open cranial sutures persistent patent ductus venosus persistent repetition of action persistent repetition of actions persistent repetition of word persistent repetition of words persistent tunica vasculosa lentis petit mal status epilepticus philtral ridge , malaligned philtral ridges , malaligned philtrum , midline raphe philtrum , midline sinus philtrum with central raphe philtrum with midline raphe philtrum with midline ridge photically induce myoclonic seizure photically induced myoclonic seizure photoparoxysmal response on eeg physiological reactivity to cue physiological reactivity to cues pierre - robin anomaly pierre - robin deformity pierre - robin malformation pierre - robin sequence pigment micronodular adrenocortical disease pigmentation around the eye pigmentation around the eyes pigmentation of the sclera pigmented micronodular adrenocortical disease pill - rolling tremor pin and needle feel pinch bridge of nose pinch tip of nose pinched bridge of nose pinched tip of nose pineal parenchymal cell neoplasm pins and needles feeling pit above the ear pit around the ear pit behind the ear pits around the ear pitting of tooth enamel pituitary corticotropic cell adenoma pituitary gonadotropic cell adenoma pituitary null cell adenoma pituitary prolactin cell adenoma pituitary spindle cell oncocytoma pituitary thyrotropic cell adenoma plant base food allergy plant based food allergy plasma / serum xenobiotic plasma factor v elevate plasma factor v elevated pneumonia , recurrent episode pneumonia , recurrent episodes podocyte foot process effacement point front baby tooth point upper front tooth point upper lateral incisor pointed front baby tooth pointed upper front tooth pointed upper lateral incisors polar cataract , anterior polar cataract , posterior poliosis of anterior hair poliosis of forelock hair polly beak nasal deformity polyclonal elevation of igm polydactyly affect the hallux polydactyly affect the thumb polydactyly affecting the hallux polydactyly affecting the thumb polydactyly of the foot polydactyly of the hand polygonal - shape calices polygonal - shaped calices polymorphic focal epileptiform discharge polymorphic focal epileptiform discharges polymorphous posterior corneal dystrophy polyp of the ureter polysyndactyly of big toe polysyndactyly of great toe poor fine motor coordination poor gross motor coordination poorly calcified tooth enamel poorly calcify tooth enamel poorly develop skeletal musculature poorly developed skeletal musculature poorly form palmar crease poorly formed palmar creases poorly mineralize tooth enamel poorly mineralized tooth enamel poorly ossified cervical vertebrae poorly ossified skull bones poorly ossify cervical vertebra poorly ossify skull bone port - wine stain positive blood acetaminophen test positive blood arsenic test positive blood barbiturate test positive blood lead test positive blood moban test positive blood molindone test positive blood paracetamol test positive blood tylenol test positive carpal tinel sign positive direct antiglobulin test positive ferric chloride test positive hair barbiturate test positive meconium barbiturate test positive meconium methadone test positive norpropoxyphene blood test positive perchlorate discharge test positive regitine block test positive regitine blocking test positive stool barbiturate test positive stool methadone test positive urine amphetamine test positive urine barbiturate test positive urine benzodiazepine test positive urine benzodiazepines test positive urine cannabinoid test positive urine cocaine test positive urine marijuana test positive urine methadone test positive urine norcotinine test positive urine norpropoxyphene test positive urine opioid test post - partum haemorrhage post - partum hemorrhage post - transfusion purpura post - transfusion thrombocytopenia post - vaccination measles post - vaccination polio post - vaccination rubella postaxial polydactyly of feet postaxial polydactyly of finger postaxial polydactyly of fingers postaxial polydactyly of foot postaxial polydactyly of hand postaxial polydactyly of hands postaxial polydactyly type a postaxial polysyndactyly of foot posterior cerebral artery stenosis posterior communicate artery aneurysm posterior communicate artery infundibulum posterior communicating artery aneurysm posterior communicating artery infundibulum posterior polydactyly of foot posterior radial head dislocation posterior vertebral body scallop posterior vertebral body scalloping posteriorly - angulated ear posteriorly - angulated ears posteriorly - rotate ear posteriorly - rotated ears postive urine pot test postlingual sensorineural hearing impairment postnatal - onset ichthyosis postnatal failure to thrive postural tremor of arm postural tremor of arms praxis - induced seizure pre - excitation syndrome preaxial polydactyly , feet preaxial polydactyly , foot preaxial polydactyly of feet preaxial polydactyly of foot preaxial polydactyly of hand preaxial polydactyly of hands precocious puberty in female precocious puberty in females precocious puberty in male precocious puberty in males precociously ossified carpal bones precociously ossified tarsal bones precociously ossify carpal bone precociously ossify tarsal bone prednisone - responsive anaemia prednisone - responsive anemia predominantly dermal neutrophilic infiltrate predominantly epidermal neutrophilic infiltrate predominantly low limb lymphedema predominantly lower limb lymphedema prelingual sensorineural hearing impairment premature anterior fontanel closure premature closure of epiphyses premature closure of epiphysis premature closure of fontanelle premature closure of fontanelles premature coronary artery atherosclerosis premature coronary artery disease premature deciduous tooth loss premature eruption of teeth premature exfoliation of teeth premature graying of hair premature greying of hair premature hardening of arteries premature hardening of artery premature loss of teeth premature occlusive vascular stenosis premature posterior fontanelle closure premature pubic hair growth premature rupture of membrane premature rupture of membranes premature sudden cardiac death prematurely age facial appearance prematurely aged facial appearance prematurely close sternal suture prematurely closed sternal sutures prenatal onset growth retardation presence of foam cell presence of foam cells pressure on spinal cord previous menstrual period stop previous menstrual periods stop primary angle closure glaucoma primary front shark tooth primary open angle glaucoma primary palate bone deficiency primary palate bone excess primary palate bone retrusion primum atrial septal defect primum atrioventricular canal defect profound global developmental delay profound sensorineural hearing impairment profuse pigment skin lesion profuse pigmented skin lesions progressive alveolar ridge hypertropy progressive conductive hearing impairment progressive degeneration of movement progressive distal muscle weakness progressive distal muscular atrophy progressive extrapyramidal movement disorder progressive extrapyramidal muscular rigidity progressive inability to walk progressive intervertebral space narrowing progressive loss of vision progressive proximal muscle weakness progressive pulmonary function impairment progressive sensorineural hearing impairment progressive spinal muscle degeneration progressive spinal muscle waste progressive spinal muscle wasting progressive spinal muscular atrophy progressive visual acuity loss progressive visual field defect progressive visual field defects progressively abnormally enlarge cranium progressively abnormally enlarge skull progressively abnormally enlarging cranium progressively abnormally enlarging skull progressively abnormally small cranium progressively abnormally small skull proliferation of bile canaliculi proliferation of bile canaliculus prolong bleeding after surgery prolong myocardial native t1 prolong partial thromboplastin time prolonged bleeding after surgery prolonged bleeding follow circumcision prolonged bleeding following circumcision prolonged bleeding following procedure prolonged miniature endplate current prolonged miniature endplate currents prolonged miniature endplate potential prolonged miniature endplate potentials prolonged myocardial native t1 prolonged partial thromboplastin time prolonged somatosensory evoke potential prolonged somatosensory evoked potentials prominence of frontal region prominence of the premaxilla prominent bridge of nose prominent central palatal ridge prominent corneal nerve fiber prominent corneal nerve fibers prominent corneal nerve fibre prominent corneal nerve fibres prominent crus of helix prominent innermost hinge joint prominent innermost hinge joints prominent lateral palatal fold prominent lateral palatal folds prominent lateral palatal ridge prominent lateral palatal ridges prominent low lip vermilion prominent lower lip vermilion prominent medial palatal suture prominent median palatal raphe prominent palmar flexion crease prominent palmar flexion creases prominent prostate median bar prominent proximal interphalangeal joint prominent proximal interphalangeal joints prominent septum of nose prominent stem of antihelix prominent subcalcaneal fat pad prominent superficial blood vessel prominent superficial blood vessels prominent tip of nose prominent upper lip vermilion prominent vein on trunk prominent veins on trunk prone to bacterial infection pronounced tip of nose proprioceptive - induced seizure protein - losing enteropathy protract bleeding after surgery protracted bleeding after surgery protrude bridge of nose protruding bridge of nose proximal 5th finger symphalangism proximal femoral focal deficiency proximal femoral metaphyseal abnormality proximal femoral metaphyseal irregularity proximal fifth finger symphalangism proximal finger joint hyperextensibility proximal humeral metaphyseal irregularity proximal interphalangeal joint synostoses proximal limb muscle stiffness proximal limb muscle weakness proximal low limb amyotrophy proximal lower limb amyotrophy proximal neurogenic muscle weakness proximal phalangeal periosteal thicken proximal phalangeal periosteal thickening proximal placement of hallux proximal placement of thumb proximal radial head dislocation proximal renal tubular acidosis proximal renal tubule defect proximal spinal muscular atrophy proximal symphalangism of hand proximal symphalangism of hands proximal tapering of metacarpal proximal tapering of metacarpals proximal upper limb amyotrophy proximally place carpal bone proximally placed carpal bones pseudarthrosis of the radius pseudocoarctation of the aorta pseudoepiphyses of hand bone pseudoepiphyses of hand bones pseudoepiphyses of second metacarpal pseudoepiphyses of the hallux pseudoepiphyses of the metacarpal pseudoepiphyses of the metacarpals pseudoepiphyses of the thumb pseudoepiphyses of the toe pseudoepiphyses of the toes pseudoepiphysis of the finger pseudoepiphysis of the fingers pseudoepiphysis of the thumb pseudohypertrophy of the calf pseudohypertrophy of the calves psoriatic - like lesion psychomotor regression , progressive psychomotor regression in infant psychomotor regression in infants psychomotor retardation , mild psychomotor retardation , moderate psychomotor retardation , profound pterygoid - levator synkinesis ptosis , bilateral congenital ptosis , congenital bilateral pu - fill lesion puberty and gonadal disorder puberty and gonadal disorders puffiness of low eyelid puffiness of lower eyelid puffiness of upper eyelid pulmonary arterial hypertension crisis pulmonary arterial medial hypertrophy pulmonary arterial plexiform lesion pulmonary artery adventitial fibrosis pulmonary artery intimal thicken pulmonary artery intimal thickening pulmonary aterial intimal fibrosis pulmonary blood flow redistribution pulmonary infection , recurrent pulmonary infections , recurrent pulmonary interstitial lymphocyte infiltration pulmonary interstitiatial hrct abnormality punctate calcification of carpal punctate calcification of tarsal punctate calcifications of carpals punctate calcifications of tarsals punctate corneal epithelial erosion punctate corneal epithelial erosions punctate vasculitis skin lesion punctate vasculitis skin lesions pure red cell aplasia purely bicuspid aortic valve pus - filled lesion pustulosis palmaris et plantaris pyknotic bone marrow neutrophil pyknotic bone marrow neutrophils pyruvate dehydrogenase complex deficiency radial - head subluxation radial aplasia / hypoplasia radial deviation of finger radial deviation of hand radial deviation of hands radially deviate index finger radially deviated index finger radiohumeral synostosis of elbow rag - red fiber rag - red fibre rag red muscle fiber rag red muscle fibre ragged - red fibers ragged - red fibres ragged red muscle fibers ragged red muscle fibres raise erythrocyte sedimentation rate raised erythrocyte sedimentation rate rarefaction of the metaphyses re - experience symptom re - experiencing symptom read - induced seizure reading - induced seizure recess dorsum of nose recessed dorsum of nose rectum protrudes through anus rectus femoris muscle atrophy recurrent bacterial skin infection recurrent bacterial skin infections recurrent bleed into lung recurrent bleeding into lungs recurrent burkholderia cepacia infection recurrent burkholderia cepacia infections recurrent cutaneous abscess formation recurrent cutaneous fungal infection recurrent cutaneous fungal infections recurrent cutaneous pyogenic infection recurrent cutaneous pyogenic infections recurrent deep vein thrombosis recurrent dislocation of patella recurrent dislocation of patellas recurrent e. coli infection recurrent e. coli infections recurrent episode of acidosis recurrent episode of impetigo recurrent episodes of acidosis recurrent episodes of impetigo recurrent h. influenzae infection recurrent h. influenzae infections recurrent haemophilus influenzae infection recurrent haemophilus influenzae infections recurrent inflammation of tonsil recurrent inflammation of tonsils recurrent major bacterial infection recurrent major bacterial infections recurrent middle ear infection recurrent pyogenic skin infection recurrent pyogenic skin infections recurrent serratia marcescens infection recurrent serratia marcescens infections recurrent staphylococcus aureus infection recurrent staphylococcus aureus infections recurrent streptococcus pneumoniae infection recurrent streptococcus pneumoniae infections recurrent synchronous diaphragmatic flutter recurrent systemic pyogenic infection recurrent systemic pyogenic infections recurrent upper respiratory infection recurrent upper respiratory infections recurrent urinary tract infection recurrent urinary tract infections recurrent viral skin infection recurrent viral skin infections red - blue papule red - brown urine red - green dyschromatopsia red and sore lip red and sore lips red and swollen gum red and swollen gums red blood cell cast red blood cell casts red blood cell keratocytosis red bump on eyelid red green color blindness red green colour blindness red in the face reduce acetaldehyde dehydrogenase level reduce antithrombin iii activity reduce antral follicle count reduce b cell function reduce blood drug concentration reduce blood folate concentration reduce blood thiamine level reduce blood urea nitrogen reduce bone mineral density reduce c peptide level reduce circulate acylcarnitine concentration reduce circulate fibronectin level reduce circulate interferon gamma reduce circulate leptin level reduce circulate prolactin concentration reduce circulate transferrin concentration reduce consciousness / confusion reduce csf dopamine level reduce diastolic blood pressure reduce dihydropyrimidine dehydrogenase level reduce facial muscle strength reduce facial muscle tone reduce factor ii activity reduce factor ix activity reduce factor v activity reduce factor vii activity reduce factor viii activity reduce factor x activity reduce factor xi activity reduce factor xii activity reduce factor xiii activity reduce fertility in female reduce fibroblast cd16 level reduce fibroblast cd55 level reduce fibroblast cd59 level reduce forced vital capacity reduce functional residual capacity reduce glutathione synthetase level reduce gmp pyrophosphorylase level reduce granulocyte cd16 level reduce granulocyte cd18 level reduce granulocyte cd55 level reduce granulocyte cd59 level reduce heart rate variability reduce hemolytic complement activity reduce intraabdominal adipose tissue reduce intrathoracic adipose tissue reduce leukocyte alkaline phosphatase reduce maximal expiratory pressure reduce maximal inspiratory pressure reduce methionine synthase activity reduce mevalonate kinase activity reduce muscle carnitine level reduce muscle collagen vi reduce muscle dystrophin expression reduce muscle fiber dysferlin reduce muscle fiber emerin reduce muscle fiber merosin reduce muscle fiber perlecan reduce muscle fibre dysferlin reduce muscle fibre emerin reduce muscle fibre merosin reduce muscle fibre perlecan reduce nerve conduction velocity reduce nk cell number reduce or abolish electroretinogram reduce pancreatic beta cell reduce phenylalanine hydroxylase level reduce plasma cell count reduce plasma drug concentration reduce plasma insl3 level reduce platelet alpha granule reduce platelet dense granule reduce progressive sperm motility reduce protein c activity reduce protein s activity reduce pulmonary fissure count reduce radioactive iodine uptake reduce renal corticomedullary differentiation reduce serum drug concentration reduce serum methylfolate level reduce subcutaneous adipose tissue reduce systolic blood pressure reduce t4 plasma level reduce total lung capacity reduce urinary inosine level reduce vitamin b6 level reduce xanthine dehydrogenase level reduced acetaldehyde dehydrogenase level reduced antithrombin iii activity reduced antral follicle count reduced b cell function reduced blood drug concentration reduced blood folate concentration reduced blood thiamine level reduced blood urea nitrogen reduced bone mineral density reduced c peptide level reduced circulating acylcarnitine concentration reduced circulating fibronectin level reduced circulating interferon gamma reduced circulating leptin level reduced circulating prolactin concentration reduced circulating transferrin concentration reduced consciousness / confusion reduced csf dopamine level reduced diastolic blood pressure reduced dihydropyrimidine dehydrogenase level reduced facial muscle strength reduced facial muscle tone reduced factor ii activity reduced factor ix activity reduced factor v activity reduced factor vii activity reduced factor viii activity reduced factor x activity reduced factor xi activity reduced factor xii activity reduced factor xiii activity reduced fertility in females reduced fibroblast cd16 level reduced fibroblast cd55 level reduced fibroblast cd59 level reduced forced vital capacity reduced functional residual capacity reduced glutathione synthetase level reduced gmp pyrophosphorylase level reduced granulocyte cd16 level reduced granulocyte cd18 level reduced granulocyte cd55 level reduced granulocyte cd59 level reduced heart rate variability reduced hemolytic complement activity reduced intraabdominal adipose tissue reduced intrathoracic adipose tissue reduced leukocyte alkaline phosphatase reduced maximal expiratory pressure reduced maximal inspiratory pressure reduced methionine synthase activity reduced mevalonate kinase activity reduced muscle carnitine level reduced muscle collagen vi reduced muscle dystrophin expression reduced muscle fiber dysferlin reduced muscle fiber emerin reduced muscle fiber merosin reduced muscle fiber perlecan reduced muscle fibre dysferlin reduced muscle fibre emerin reduced muscle fibre merosin reduced muscle fibre perlecan reduced nerve conduction velocities reduced nk cell number reduced number of teeth reduced or abolished electroretinogram reduced pancreatic beta cells reduced phenylalanine hydroxylase level reduced plasma cell count reduced plasma drug concentration reduced plasma insl3 level reduced platelet alpha granules reduced platelet dense granules reduced progressive sperm motility reduced protein c activity reduced protein s activity reduced pulmonary fissure count reduced radioactive iodine uptake reduced renal corticomedullary differentiation reduced serum drug concentrations reduced serum methylfolate level reduced subcutaneous adipose tissue reduced systolic blood pressure reduced t4 plasma level reduced total lung capacity reduced urinary inosine level reduced vitamin b6 levels reduced xanthine dehydrogenase level reduction of corneal clarity reduction of neutrophil motility redundant skin in infancy redundant skin on finger redundant skin on fingers regional abnormality of skin regression of motor skill regression of motor skills relative afferent pupil defect relative afferent pupillary defect renal agenesis / hypoplasia renal aplasia / hypoplasia renal arteriolar intraluminal thrombi renal arteriolar intraluminal thrombus renal arteriole endoarterial hypercellularity renal arteriole medial atrophy renal arteriole medial hypertrophy renal cl - wasting renal collecting system anomalies renal collecting system anomaly renal cortical interstitial inflammation renal corticomedullary cystic disease renal dysplasia , cystic renal failure , endstage renal failure , progressive renal failure in adulthood renal glomerular amyloid deposition renal glomerular foam cell renal glomerular foam cells renal hypoplasia / aplasia renal insufficiency , progressive renal interstitial amyloid deposit renal interstitial amyloid deposition renal interstitial amyloid deposits renal interstitial calcium oxalate renal interstitial eosinophil infiltration renal interstitial foam cell renal interstitial foam cells renal interstitial globotriaosylceramide inclusion renal interstitial globotriaosylceramide inclusions renal interstitial immunoglobulin deposit renal interstitial immunoglobulin deposition renal interstitial immunoglobulin deposits renal interstitial necrotizing granuloma renal interstitial necrotizing granulomas renal interstitial necrotizing granulomata renal interstitial neutrophil infiltration renal interstitial xanthogranulomatous inflammation renal medullary interstitial inflammation renal medullary pyramid hypoplasia renal salt - wasting renal transitional cell carcinoma renal tubular adenovirus inclusion renal tubular adenovirus inclusions renal tubular cell atrophy renal tubular cytomegalovirus inclusion renal tubular cytomegalovirus inclusions renal tubular epithelial lipofuscin renal tubular epithelial necrosis renal tubular fanconi syndrome renal tubulointerstitial bacterial organism renal tubulointerstitial bacterial organisms renal tubulointerstitial fungal organism renal tubulointerstitial fungal organisms renal tubulointerstitial mycobacterial organism renal tubulointerstitial mycobacterial organisms renal tubulointerstitial viral inclusion renal tubulointerstitial viral inclusions repeat focal motor seizure repeat seizure without recovery repeat urinary tract infection repeated focal motor seizures repeated seizure without recovery repeated urinary tract infections resistance to thyroid hormone resorption of alveolar margin resorption of alveolar margins resorption of alveolar ridge resorption of alveolar ridges respiratory complex i deficiency respiratory complex ii deficiency respiratory complex iii deficiency respiratory complex iv deficiency respiratory distress , episodic respiratory distress , neonatal respiratory infection , recurrent respiratory infections , recurrent restrict large joint movement restricted large joint movement restrictive partial external ophthalmoplegia restrictive ventricular septal defect retinal bone corpuscle pigmentation retinal cotton wool spot retinal nerve fiber edema retinal nerve fibre oedema retinal pigment bone spicule retinal pigment epithelial atrophy retinal pigment epithelial mottling retinal pigment epithelium irregularity retinal pigmented bone spicules retinopathy of prematurity plus retinopathy of prematurity prethreshold retinopathy of prematurity threshold retinoschisis involve the fovea retinoschisis involving the fovea retraction of the tongue retrognathia of low jaw retrognathia of lower jaw retrognathia of upper jaw retruded bridge of nose retruded dorsum of nose retruded tip of nose retrusion of low jaw retrusion of lower jaw reverse splitting of s2 reverse typical atrial flutter reversed splitting of s2 rheumatoid arthritis , juvenile ridging of frontal suture ridging of metopic suture right - side isomerism right - sided isomerism right bundle branch block right ventricular noncompaction cardiomyopathy right ventricular outlet obstruction ring in the ear ringing in the ears rocker - bottom feet rocker - bottom foot rod - cone dystrophy rop pre - plus rotate maxillary central incisor rotate upper central incisor rotate upper front teeth rotated maxillary central incisors rotated upper central incisors rotated upper front teeth rough trabeculation of bone round , full face round , slop shoulder round back in infancy round mid - back rounded , sloping shoulders rudimentary to absent fibula rudimentary to absent fibulae rudimentary to absent tibia rudimentary to absent tibiae rudimentary tricuspid valve leaflet rudimentary tricuspid valve leaflets s - cone monochromacy s - shaped eye s - shaped eyes saccular abdominal aortic aneurysm saccular aortic arch aneurysm saddle shape nasal dorsum saddle shaped nasal dorsum sagging , redundant skin saggy upper eyelid skin sagittal clefting of vertebra sagittal clefting of vertebrae salt and pepper retinopathy scale skin on fingertip scaling skin on fingertip scalloping of vertebral bodies scalloping of vertebral body scalp aplasia cutis congenita scalp hair , thin scalp hair , thinning scar alopecia of scalp scarring alopecia of scalp scarring of kidney arteries scarring of kidney artery sclerosis of cranial base sclerosis of finger phalanx sclerosis of foot bone sclerosis of hallux phalanx sclerosis of hand bone sclerosis of humeral diaphysis sclerosis of skull base sclerosis of spinal bone sclerosis of thumb phalanx sclerosis of toe phalanx sclerotic ivory phalangeal epiphyses sclerotic ivory phalangeal epiphysis screwdriver - shaped incisor screwdriver - shaped incisors screwdriver shape front teeth screwdriver shaped front teeth sea - blue histiocyte sea - blue histiocytosis second degree atrioventricular block second finger ulnar deviation second metatarsal posteriorly place second metatarsal posteriorly placed secondary growth hormone deficiency secundum atrial septal defect segmental demyelination / remyelination segmental spinal muscular atrophy seizure due to hypocalcemia seizures due to hypocalcemia selective proximal tubular damage self - injurious behavior self - injurious behaviors self - injurious behaviour self - injurious behaviours sense of impend doom sense of impending doom sense of smell impair sense of smell impaired separate superior central incisor separated superior central incisors septo - optic dysplasia serpiginous crus of helix serpiginous stem of antihelix seventh cranial nerve palsy severe , generalise osteoporosis severe , generalised osteoporosis severe , generalize osteoporosis severe , generalized osteoporosis severe carpal ossification delay severe conductive hearing impairment severe expressive language delay severe failure to thrive severe global developmental delay severe hypoplasia of mandible severe intrauterine growth retardation severe long - sightedness severe postnatal growth deficiency severe postnatal growth failure severe postnatal growth retardation severe prenatal growth deficiency severe receptive language delay severe sensorineural hearing impairment severe sensorineural hearing loss severe varicella zoster infection severely decreased muscle tone severely reduce contrast sensitivity severely reduce ejection fraction severely reduce visual acuity severely reduced contrast sensitivity severely reduced ejection fraction severely reduced visual acuity short - limb dwarfism short - limbed dwarfism short - trunked dwarfism short 2nd toe bone short 3rd toe bone short 4th toe bone short and broad skull short and narrow face short bridge of nose short fetal femur length short fetal humerus length short finger or toe short fingers or toes short foetal femur length short foetal humerus length short great sciatic notch short greater sciatic notch short index finger phalanges short index finger phalanx short innermost finger bone short innermost finger bones short innermost toe bone short little toe bone short middle finger phalanges short middle finger phalanx short neck of thighbone short or absent limb short or absent limbs short outermost finger bone short phalanx of finger short phalanx of hallux short pinkie toe bone short pinky toe bone short point digital bone short pointed digital bones short proximal thumb bone short proximal thumb phalanx short septum of nose short stature , disproportionate short stature , extreme short stature , mesomelic short stature , mild short stature , moderate short stature , proportionate short stature , rhizomelic short stature , severe short step shuffle gait short step shuffle walk short stepped shuffling gait short stepped shuffling walk short term memory impairment short term memory loss short terminal thumb phalanx short thumb terminal phalanx shorten in proximal phalanx shorten inner dynein arm shorten long tubular bone shorten middle finger bone shorten out dynein arm shortened inner dynein arms shortened long tubular bones shortened middle finger bones shortened outer dynein arms shortening in proximal phalanges shortening of all metacarpal shortening of all metacarpals shortening of the arm shortening of the arms shortening of the shankbone shortening of the shinbone shortening of the tibia shortening of upper lip shoulder girdle muscle atrophy shoulder girdle muscle waste shoulder girdle muscle wasting shoulder girdle muscle weakness shrinking of alveolar ridge shrinking of alveolar ridges shrinking of gum ridge shrinking of gum ridges siderophages in bronchoalveolar fluid silver - gray hair silvery - gray hair simple absence status epilepticus simple partial occipital seizure simple partial occipital seizures single - twin demise single central upper incisor single coronary artery origin single fiber emg abnormality single fibre emg abnormality single maxillary central incisor single median maxillary incisor single midline maxillary incisor single transverse palmar crease single transverse palmar creases sinus of valsalva aneurysm situs inversus with levocardia skeletal muscle fatty infiltration skeletal muscle lipid accumulation skew maternal x inactivation skewed maternal x inactivation ski - jump toenail skin - color papule skin - colored papule skin infection , recurrent skin infections , recurrent skull soft on palpation sleep - wake inversion slip capilal femoral epiphysis slipped capilal femoral epiphysis slipped capital femoral epiphyses slipped capital femoral epiphysis slit - like nostril slit - like nostrils slow - grow hair slow - grow nail slow - growing hair slow - growing nails slow nerve conduction velocity slow pupillary light response slow saccadic eye movement slow saccadic eye movements slowed nerve conduction velocities slowly progressive spastic quadriparesis slowly progressive visual loss small , conical teeth small , point teeth small , pointed teeth small - head sperm small abnormally form scapula small abnormally formed scapula small abnormally formed scapulae small anterior nasal spine small bone of forehead small bridge of nose small capital femoral epiphyses small capital femoral epiphysis small cell lung cancer small cell lung carcinoma small cervical vertebral bodies small cervical vertebral body small distal femoral epiphysis small femoral capital epiphyses small femoral capital epiphysis small flat posterior fossa small for gestational age small internal carotid artery small intestinal bacterial overgrowth small male external genitalia small maxillary lateral incisor small middle finger phalanges small middle finger phalanx small miniature endplate current small miniature endplate currents small miniature endplate potential small miniature endplate potentials small primary palate bone small proximal femoral epiphyses small proximal femoral epiphysis small proximal tibial epiphyses small proximal tibial epiphysis small right heart chamber small septum of nose small superior frontal cortex small terminal thumb phalanx small tip of nose small to absent fibula small to absent patella small to absent patellae small upper jaw bone small upper jaw bones small upper lateral incisor smooth dorsum of tongue smooth muscle antibody positive smooth muscle antibody positivity smooth surface of tongue snail - like ilia snail - like ilium snail - like pelvis snail - shape ilia snail - shaped ilia social and occupational deterioration soft , doughy skin softening of the bone softening of the bones somatosensory - induced seizure sparse / absent eyebrow sparse / absent eyebrows sparse and thin eyebrow sparse anterior scalp hair sparse hair since birth sparse or absent eyebrow sparse or absent eyebrows sparse or absent eyelash sparse or absent eyelashes sparse to absent eyebrow sparse to absent eyebrows sparse to absent eyelash sparse to absent eyelashes spasm of facial muscle spasms of facial muscles spastic / hyperactive bladder spasticity of facial muscle spasticity of facial muscles spasticity of pharyngeal muscle spasticity of pharyngeal muscles speak word recognition deficit specific pneumococcal antibody deficiency speech and language delay speech and language difficulties speech and language difficulty sphincter of oddi dysfunction sphincter of oddi dyskinesia spiegler - fendt sarcoid spinal fluid protein elevate spinal fluid protein elevated spindle - shape finger spindle - shaped finger splay superior cerebellar peduncle splayed superior cerebellar peduncle spoken word recognition deficit spontaneous , recurrent epistaxis spontaneous , recurrent nosebleed spontaneous abortion , recurrent spontaneous cerebrospinal fluid leak spontaneous closure of eyelid spontaneous conjunctival filter bleb spontaneous conjunctival filtering bleb spoon - shape nail spoon - shaped nails spot on the lung spreading of the finger spreading of the fingers spur of radial diaphysis spurs of radial diaphysis squamous cell lung carcinoma square - off platyspondyly square - wave jerk square - wave jerks squared - off platyspondyly squaring of iliac bone squaring of iliac bones squaring of the scapula st. anthony 's fire startle - induced seizure stature below 3rd percentile steatosis of skeletal muscle steatosis of skeletal muscles steep mandibular plane angle stenosis of foramen magnum stenosis of the colon stenotic external auditory canal stereotype , repetitive behavior stereotype , repetitive behaviour stereotyped , repetitive behavior stereotyped , repetitive behaviour sternal ossification center abnormalities sternal ossification center abnormality sternal ossification centre abnormalities sternal ossification centre abnormality steroid - responsive anaemia steroid - responsive anemia stippling of the epiphyses stippling of the epiphysis stippling of thumb epiphysis stricture of the anorectum stroke - like episode stroke - like episodes stye of inner eyelid sub - ilm haemorrhage sub - ilm hemorrhage sub - macular haemorrhage sub - macular hemorrhage sub - retinal fluid sub - rpe deposit sub - rpe deposits subacute progressive viral hepatitis subaortic ventricular septal bulge subarterial ventricular septal defect subcortical band heterotopia diffuse subcortical white matter calcification subcortical white matter calcifications subependymal gray matter heterotopia subependymal grey matter heterotopia subluxation of metacarpophalangeal joint subluxation of metacarpophalangeal joints submandibular lymph node enlargement submucous cleft hard palate submucous cleft soft palate subretinal pigment epithelium haemorrhage subretinal pigment epithelium hemorrhage sudden central visual loss sudden decrease in vision superficial perivascular inflammatory infiltrate superior mesenteric artery aneurysm superior oblique muscle overaction superior oblique muscle restriction superior oblique muscle underaction superior oblique muscle weakness superior rectus muscle overaction superior rectus muscle restriction superior rectus muscle underaction superior rectus muscle weakness superior vena cava obstruction superior vena cava syndrome supernumerary vertebral ossification center supernumerary vertebral ossification centers supernumerary vertebral ossification centre supernumerary vertebral ossification centres suppress plasma renin activity suppressed plasma renin activity supracristal ventricular septal defect susceptibility to coronavirus 229e susceptibility to otitis media susceptibility to otitis medium susceptibility to pyogenic infection susceptibility to respiratory infection susceptibility to respiratory infections swell around the eye swell of upper eyelid swelling around the eyes swelling of low eyelid swelling of lower eyelid swelling of the lip swelling of upper eyelid symmetric great toe depigmentation symmetric mesomelic limb shortness symmetric proximal muscular atrophy symmetrical progressive peripheral demyelination symmetrical rhizomelic limb shorten symmetrical rhizomelic limb shortening symphalangism of the hand symphalangism of the thumb syndactyly of all toe syndactyly of all toes synechia of the gum synechia of the gums synechiae of the mouth synostosis involve metacarpal bone synostosis involve metatarsal bone synostosis involve tarsal bone synostosis involve the elbow synostosis involve the fibula synostosis involve the tibia synostosis involving metacarpal bones synostosis involving metatarsal bones synostosis involving tarsal bones synostosis involving the elbow synostosis involving the fibula synostosis involving the tibia synostosis of carpal bone synostosis of carpal bones synostosis of distal phalanges synostosis of distal phalanx synostosis of shoulder joint synostosis of tarsal bone synostosis of tarsal bones synostosis of thumb phalanx syphilitic permanent first molar systemic capillary leak syndrome t - cell dysfunction t - cell lymphoma t - shape uterus t - shaped uterus t - wave abnormalities t - wave abnormality t - wave alternans t - wave inversion t2 hypointense basal ganglia t2 hypointense basal ganglion tall and narrow skull tall lumbar vertebral bodies tall lumbar vertebral body taper outermost finger bone tapered outermost finger bone tapered phalanx of finger taussig - bing anomaly teeth present at birth teeth with dentinal dysplasia telangiectases of the cheek telangiectases of the cheeks telangiectasia macularis eruptiva perstans telangiectasia of extensor surface telangiectasia of extensor surfaces telangiectasia of the ear telangiectasia of the lip telangiectasia of the lips telangiectasia of the skin telangiectasia on the cheek telangiectasia on the cheeks teleangiectasia of the skin temporal gray pigmentary crescent temporal grey pigmentary crescent temporal optic disc pallor temporally uniform pulmonary inflammation temporomandibular joint click sound temporomandibular joint clicking sound temporomandibular joint grate sound temporomandibular joint grating sound temporomandibular joint pop sound temporomandibular joint popping sound tendency to chromosomal breakage tendon / muscle rupture tension - type headache tent upper lip vermilion tented upper lip vermilion teratoma of the mediastinum tessier cleave number 7 tessier cleft number 7 testicular adrenal rest tumor testicular adrenal rest tumour thick , flare eyebrow thick , flared eyebrows thick anterior alveolar ridge thick anterior alveolar ridges thick low jaw bone thick low lip vermilion thick lower jaw bone thick lower lip vermilion thick palm and sol thick palms and soles thick septum of nose thick skin around nail thick skin around nails thick skin of sol thick skin of soles thick upper lip vermilion thicken aortic valve cusp thicken but nonswollen eyelid thicken cortex of bone thicken glomerular basement membrane thicken nuchal skin fold thicken palm and sol thicken superior cerebellar peduncle thickened aortic valve cusp thickened but nonswollen eyelids thickened cortex of bones thickened glomerular basement membrane thickened nuchal skin fold thickened palms and soles thickened superior cerebellar peduncle thickening of kidney artiries thickening of the calvaria thickening of the scalp thin , atrophic scar thin , atrophic scars thin , sparse eyebrow thin , sparse eyebrows thin , sparse hair thin - cap fibroatheroma thin base of nose thin bone of forehead thin dorsum of nose thin glomerular basement membrane thin gracile long bone thin gracile long bones thin hypoplastic ala nasi thin hypoplastic alae nasi thin long bone diaphyses thin long bone diaphysis thin low lip vermilion thin lower lip vermilion thin myocardium compact layer thin septum of nose thin tip of nose thin upper lip vermilion think - induced seizure thinking - induced seizure thinning of descemet membrane third - degree microtia third degree atrioventricular block third ventricle colloid cyst thistle tube shape pulp thistle tube shaped pulp three row of eyelash three rows of eyelashes thumb aplasia / hypoplasia thymic hypoplasia or aplasia thyroid c cell hyperplasia thyroid cancer , nonmedullary thyroid hormone receptor defect thyroid stimulate hormone deficiency thyroid stimulating hormone deficiency thyrotoxicosis with diffuse goiter thyrotoxicosis with diffuse goitre tibial bowing at ankle tibial deviation of toe tibial deviation of toes tiger - tail banding tightly curve thumb nail tightly curved thumb nail tip - toe gait tip variant segmental glomerulosclerosis tongue fasciculation / fibrillation tongue fasciculations / fibrillations tonic - clonic convulsion tonic - clonic convulsions tonsil large / hypertrophy tonsil with orange deposit tonsils large / hypertrophy tonsils with orange deposits tooth within a tooth torsion of the penis tortuosity of conjunctival vessel tortuosity of conjunctival vessels total immunoglobulin a deficiency tracheal tug on inspiration transient decrease circulate iga transient decrease circulate igd transient decrease circulate ige transient decrease circulate igg1 transient decrease circulate igg2 transient decrease circulate igg3 transient decrease circulate igg4 transient decreased circulating iga transient decreased circulating igd transient decreased circulating ige transient decreased circulating igg1 transient decreased circulating igg2 transient decreased circulating igg3 transient decreased circulating igg4 transient hypogammaglobulinemia of infancy transient neonatal diabetes mellitus transient unilateral blur vision transient unilateral blurred vision transitional atrioventricular canal defect transitional cell bladder carcinoma transitional renal cell carcinoma translamellar aortic medial fibrosis transphyseal distal humerus fracture transposition of great vessel transposition of great vessels transverse deficiency of face transverse excess of face transverse hyperplasia of face transverse hypoplasia of face transverse hypoplasia of maxilla transverse insufficiency of face trapezoidal distal femoral condyle trapezoidal distal femoral condyles trapezoidal shape vertebral body trapezoidal shaped vertebral bodies tremor by anatomical site triangular index finger phalanges triangular index finger phalanx triangular innermost thumb bone triangular proximal thumb phalanx triangular shape 1st metacarpal triangular shape 1st metatarsal triangular shape hand bone triangular shape oral aperture triangular shape thumb bone triangular shape thumb phalanx triangular shape toe bone triangular shaped 1st metacarpal triangular shaped 1st metatarsal triangular shaped hand bones triangular shaped oral aperture triangular shaped thumb bone triangular shaped thumb phalanx triangular shaped toe bones trichiasis of eyelid eyelash trichiasis of eyelid eyelashes trigemino - oculomotor synkinesis triple row of eyelash triple row of eyelashes triplication of spinal cord tubular basement membrane disintegration tubular phosphate reabsorption low tubularization of bowman capsule tumor of fatty tissue tumor of oral cavity tumor of salivary gland tumor of striated muscle tumor of the lip tumor of the nasopharynx tumor of the nose tumor of the pharynx tumor of the skin tumor of the vulva tumors of striated muscle tumour of fatty tissue tumour of oral cavity tumour of salivary gland tumour of striated muscle tumour of the breast tumour of the lip tumour of the nasopharynx tumour of the nose tumour of the pharynx tumour of the skin tumour of the vulva tumours of striated muscle tumours of the breast turn upper front teeth turned upper front teeth twist upper front teeth twisted upper front teeth twitching of facial muscle twitching of facial muscles twitching of the tongue two - vessel cord two row of eyelash two rows of eyelashes two vessel umbilical cord type 1 collagen overmodification type 1 truncus arteriosus type 2 fiber atrophy type 2 fibre atrophy type 2 truncus arteriosus type 3 truncus arteriosus type 4 truncus arteriosus type a aortic dissection type b aortic dissection type i atherosclerotic lesion type i diabetes mellitus type i truncus arteriosus type ii atherosclerotic lesion type ii diabetes mellitus type ii pneumocyte hyperplasia type ii pneumocyte hypertrophy type ii truncus arteriosus type iii atherosclerotic lesion type iii truncus arteriosus type iv atherosclerotic lesion type iv truncus arteriosus type v atherosclerotic lesion type vi atherosclerotic lesion typical absence status epilepticus ulnar deviate club hand ulnar deviated club hands ulnar deviation of finger ulnar deviation of hand ulnar deviation of hands ulnar deviation of thumb ulnar deviation of wrist ulnar deviation of wrists ulnar hypoplasia / aplasia ulnar radial head dislocation ultra - low vision unbalanced atrioventricular canal defect unbalanced atrioventricular septal defect underdeveloped 5th lumbar vertebra underdeveloped 5th lumbar vertebrae underdeveloped female external genitalia underdeveloped fetal nose bone underdeveloped foetal nose bone underdeveloped iris dilator muscle underdeveloped leave heart atrium underdeveloped left heart atrium underdeveloped low limb bone underdeveloped lower limb bones underdeveloped major sweat gland underdeveloped major sweat glands underdeveloped pupil dilator muscle underdeveloped right heart chamber underdeveloped stem of antihelix underdeveloped tissue around nostril underdeveloped upper arm muscle underdeveloped upper arm muscles underdevelopment of alveolar ridge underdevelopment of baby teeth underdevelopment of facial bone underdevelopment of facial bones underdevelopment of facial muscle underdevelopment of facial muscles underdevelopment of facial skeleton underdevelopment of low eyelid underdevelopment of low jaw underdevelopment of lower eyelid underdevelopment of lower jaw underdevelopment of malar bone underdevelopment of milk teeth underdevelopment of nasal bone underdevelopment of nasal septum underdevelopment of nasal tip underdevelopment of neck muscle underdevelopment of paranasal sinus underdevelopment of parotid gland underdevelopment of primary teeth underdevelopment of the premaxilla underdevelopment of the tongue underdevelopment of tooth bud underdevelopment of tooth germ underdevelopment of upper eyelid underdevelopment of zygomatic bone undetectable visual evoke potential undetectable visual evoked potentials unequal side of face unequal side of maxilla unequal sides of face unequal sides of maxilla unequal size of arm unequal size of arms uneven side of face uneven sides of face unguarded tricuspid valve orifice unilateral cleft upper lip unilateral conductive hearing impairment unilateral coronal suture craniosynostosis unilateral coronal suture synostosis unilateral external ear deformity unilateral facial muscle paralysis unilateral facial muscle weakness unilateral lambdoid suture synostosis unilateral multifocal epileptiform discharge unilateral multifocal epileptiform discharges unilateral narrow palpebral fissure unilateral primary pulmonary dysgenesis unilateral vertebral artery hypoplasia unilateral vocal cord paralysis unilateral vocal cord paresis unilateral wrist flexion contracture unusual course of infection upper extremity joint dislocation upper front shark tooth upper jaw bone excess upper limb metaphyseal widening upper limb muscle hypertrophy upper limb muscle hypoplasia upper limb muscle weakness upper limb postural tremor upper motor neuron dysfunction upper respiratory tract infection upper respiratory tract infections upper respiratory tract issue upper respiratory tract issues upswept frontal hair pattern upturned corner of mouth upturned corners of mouth upward angulation of nail upward slant palpebral fissure upward slanted palpebral fissures upward slanting palpebral fissures ureter , cancer of urethral atresia , female urethral atresia , male urinary bladder sphincter dysfunction urinary oval fat bodies urinary oval fat body vaginal birth after caesarian vaginal clear cell adenocarcinoma variability of dental spacing vascular ring of aorta vasculitis in the skin vein of galen aneurysm vein of galen malformation venom - induced anaphylaxis ventral shortening of foreskin ventricular pre - excitation vertebral compression or collapse vertical chin skin cleft vertical deficiency of chin vertical deficiency of face vertical elongation of face vertical enlargement of face vertical excess of chin vertical excess of face vertical hyperplasia of chin vertical hyperplasia of face vertical hyperplasia of philtrum vertical hypoplasia of chin vertical hypoplasia of face vertical hypoplasia of philtrum vertical insufficiency of face vertical overgrowth of face vertical shortening of face vertical supranuclear gaze palsy very low visual acuity vesico - ureteral reflux vesicoallantoic abdominal wall defect vestibular schwann cell tumor vestibular schwann cell tumour villitis of unknown aetiology villitis of unknown etiology visceral epithelial cell cap visceral epithelial cell capping visceral epithelial cell detachment visceral epithelial cell hyperplasia visceral epithelial hyaline droplet visceral epithelial hyaline droplets visible corneal nerve fiber visible corneal nerve fibers visible corneal nerve fibre visible corneal nerve fibres visible septum of nose vision loss , progressive visual acuity test abnormality visual loss , progressive visually - induced seizure vulval squamous cell carcinoma wafer - thin platyspondyly warm reactive autoantibody positivity wasting of pec muscle wasting of pec muscles wasting of quad muscle wasting of quad muscles wasting of shoulder muscle wasting of shoulder muscles wasting of the tongue wasting of thigh muscle weak and soft bone weak and soft bones weakness of distal muscle weakness of distal muscles weakness of facial musculature weakness of forehead muscle weakness of outermost muscle weakness of outermost muscles webbed finger or toe webbed fingers or toes webbed skin of finger webbed skin of fingers webbed skin of toe webbed skin of toes wedge - shape vertebra wedge - shaped vertebrae wedge fracture cervical vertebra wedge fracture lumbar vertebra wedge fracture thoracic vertebra wedge fractured cervical vertebra wedge fractured lumbar vertebra wedge fractured thoracic vertebra weight falter in infancy weight faltering in infancy wernicke - mann gait white blood cell cast white blood cell casts white discoloration of nail white discoloration of nails white oral mucosal macule whole - immunoglobulin paraproteinemia wide - base gait wide - based gait wide - set eye wide - set eyes wide - space nipple wide - space teeth wide - spaced nipples wide - spaced teeth wide / broad thumb wide base of nose wide bridge of nose wide capital femoral epiphyses wide capital femoral epiphysis wide distal femoral metaphysis wide dorsum of nose wide humeral epiphyseal plate wide index finger bone wide index finger bones wide open anterior fontanelle wide proximal femoral metaphysis wide radial epiphyseal plate wide radial epiphyseal plates wide septum of nose wide symphysis of pubis wide tip of nose wide upper central incisor wide upper central incisors widely - space incisor widely - space nipple widely - space teeth widely - spaced incisors widely - spaced nipples widely - spaced teeth widely patent coronal suture widely patent sagittal suture widely space baby teeth widely space deciduous teeth widely space front teeth widely space milk teeth widely space primary teeth widely space upper incisor widely spaced baby teeth widely spaced deciduous teeth widely spaced front teeth widely spaced milk teeth widely spaced primary teeth widely spaced upper incisors widen , distorted epiphysis widen cavum septum pellucidum widen cerebellar subarachnoid space widen cerebral subarachnoid space widen great sciatic notch widen long bone metaphyses widen proximal tibial metaphyses widen z - disc widened , distorted epiphyses widened cavum septum pellucidum widened cerebellar subarachnoid space widened cerebral subarachnoid space widened greater sciatic notch widened long bone metaphyses widened proximal tibial metaphyses widened z - discs willis - ekbom disease with the rule astigmatism wittmaack - ekbom syndrome word - finding difficulty wrinkle around the eye wrinkle palm and sol wrinkled palms and soles wrinkles around the eyes xanthelasma of periocular region xanthoma of periocular region xy female gonadal dysgenesis y - shape metacarpal y - shape metatarsal y - shaped metacarpals y - shaped metatarsals yellow - orange papule yellowing of the skin z - band stream z - band streaming zollinger - ellison syndrome zonule of zinn abnormality 'rimmed ' vacuole on biopsy 'rimmed ' vacuoles on biopsy 'rimmed vacuole ' on biopsy 'rimmed vacuoles ' on biopsy 1 - 2 finger syndactyly 1 - 2 toe syndactyly 1 - 3 finger syndactyly 1 - 3 toe syndactyly 1 - 4 finger syndactyly 1 - 4 toe syndactyly 1 - 5 finger syndactyly 1 - 5 toe syndactyly 2 - 3 finger syndactyly 2 - 3 toe syndactyly 2 - 3 toes syndactyly 2 - 4 finger syndactyly 2 - 4 toe syndactyly 2 - 5 finger syndactyly 2 - 5 toe syndactyly 3 - 4 finger syndactyly 3 - 4 metacarpal synostosis 3 - 4 toe syndactyly 3 - 5 finger syndactyly 3 - 5 toe syndactyly 4 - 5 finger syndactyly 4 - 5 metacarpal synostosis 4 - 5 toe syndactyly 46 , xy gonadal dysgenesis 5th finger middle phalangeal hypoplasia 6 long bone of hand 6 long bones of hand abnormal 3rd finger phalanx morphology abnormal 4th finger phalanx morphology abnormal 5th finger phalanx morphology abnormal amplitude of pattern electroretinogram abnormal anterior cricoarytenoid muscle morphology abnormal anterior eye segment morphology abnormal anterior horn cell morphology abnormal aortic valve cusp morphology abnormal arcuate artery endothelium morphology abnormal arcuate artery lumen morphology abnormal arcuate vein lumen morphology abnormal automate kinetic perimetry test abnormal automated kinetic perimetry test abnormal autonomic nervous system morphology abnormal autonomic nervous system physiology abnormal b cell subset distribution abnormal blistering of the skin abnormal blood carbon dioxide level abnormal blood cl - concentration abnormal blood inorganic cation concentration abnormal blood urea nitrogen concentration abnormal bone collagen fibril morphology abnormal bone maturation of vertebra abnormal bone of 4th finger abnormal bones of 4th finger abnormal brain fdg pet scan abnormal brain positron emission tomography abnormal brainstem mri signal intensity abnormal bronchoalveolar fluid protein level abnormal bronchoalveolar lavage fluid morphology abnormal buccal mucosa cell morphology abnormal c - peptide level abnormal cardiac exercise stress test abnormal cardiac magnetic resonance imaging abnormal cardiac muscle cell morphology abnormal cd4 : cd8 ratio abnormal cd4+cd25+ treg cell proportion abnormal cellular immune system morphology abnormal cerebral venous sinus morphology abnormal cerebral white matter morphology abnormal cerebrospinal fluid biopterin level abnormal cerebrospinal fluid metabolite concentration abnormal circle of willis morphology abnormal circulate amino acid concentration abnormal circulate antimullerian hormone concentration abnormal circulate aspartic acid concentration abnormal circulate beta globulin level abnormal circulate carboxylic acid concentration abnormal circulate creatine kinase concentration abnormal circulate dicarboxylic acid concentration abnormal circulate esterified carnitine concentration abnormal circulate fetuin a concentration abnormal circulate free t3 concentration abnormal circulate free t3 level abnormal circulate free t4 level abnormal circulate free thyroxine level abnormal circulate free triiodotyronine concentration abnormal circulate gonadal steroid concentration abnormal circulate heparan sulfate level abnormal circulate heparan sulphate level abnormal circulate hyaluronic acid concentration abnormal circulate keto acid concentration abnormal circulate lipoprotein lipase concentration abnormal circulate luteinizing hormone concentration abnormal circulate luteinizing hormone level abnormal circulate monocarboxylic acid cocentration abnormal circulate nitrogen compound concentration abnormal circulate phytanic acid concentration abnormal circulate phytanic acid level abnormal circulate sex hormone concentration abnormal circulate sex steroid concentration abnormal circulate vitamin b6 level abnormal circulating amino acid concentration abnormal circulating antimullerian hormone concentration abnormal circulating aspartic acid concentration abnormal circulating beta globulin level abnormal circulating carboxylic acid concentration abnormal circulating creatine kinase concentration abnormal circulating dicarboxylic acid concentration abnormal circulating esterified carnitine concentration abnormal circulating fetuin a concentration abnormal circulating free t3 concentration abnormal circulating free t3 level abnormal circulating free t4 level abnormal circulating free thyroxine level abnormal circulating free triiodotyronine concentration abnormal circulating gonadal steroid concentration abnormal circulating heparan sulfate level abnormal circulating heparan sulphate level abnormal circulating hyaluronic acid concentration abnormal circulating keto acid concentration abnormal circulating lipoprotein lipase concentration abnormal circulating luteinizing hormone concentration abnormal circulating luteinizing hormone level abnormal circulating monocarboxylic acid cocentration abnormal circulating nitrogen compound concentration abnormal circulating phytanic acid concentration abnormal circulating phytanic acid level abnormal circulating sex hormone concentration abnormal circulating sex steroid concentration abnormal circulating vitamin b6 level abnormal co2 level in blood abnormal co2 levels in blood abnormal coagulation factor v activity abnormal common carotid artery morphology abnormal common tendinous ring morphology abnormal complement of permanent teeth abnormal cone - mediate electroretinogram abnormal cone - mediated electroretinogram abnormal confrontational visual field test abnormal cord blood oxygen level abnormal cord blood oxygen levels abnormal cortical peritubular capillary morphology abnormal cortical radial artery morphology abnormal csf amino acid concentration abnormal csf amino acid level abnormal csf aspartic acid concentration abnormal csf carboxylic acid concentration abnormal curve of the backbone abnormal curve of the spine abnormal curving of the spine abnormal cutaneous collagen fibril morphology abnormal cutaneous elastic fiber morphology abnormal cutaneous elastic fibre morphology abnormal dark - adapt electroretinogram abnormal dark - adapted electroretinogram abnormal delay hypersensitivity skin test abnormal delayed hypersensitivity skin test abnormal direction of ventricular apex abnormal doll 's eye reflex abnormal double negative treg distribution abnormal dural venous sinus morphology abnormal emotion / affect behavior abnormal emotion / affect behaviour abnormal enzyme / coenzyme activity abnormal epidermis stratum granulosum morphology abnormal erythroid lineage cell morphology abnormal estermann grid perimetry test abnormal eye movement , paroxysmal abnormal eye movements , paroxysmal abnormal female genital system physiology abnormal female reproductive system physiology abnormal fifth cranial nerve morphology abnormal fifth cranial nerve physiology abnormal flash visual evoke potential abnormal flash visual evoked potentials abnormal flow cytometry test result abnormal formation of myelin sheath abnormal formation of myelin sheaths abnormal formation of the hip abnormal full - field electroretinogram abnormal g6pd level in blood abnormal g6pd level in leukocyte abnormal g6pd level in leukocytes abnormal g6pd level in rbc abnormal g6pd level in rbcs abnormal g6pd level in tissue abnormal glomerular basement membrane morphology abnormal glomerular basement membrane texture abnormal glomerular capillary lumen morphology abnormal glomerular endothelial cell morphology abnormal glomerular mesangial matrix morphology abnormal glucose oral tolerance test abnormal great auricular nerve morphology abnormal great palatine artery morphology abnormal great sciatic notch morphology abnormal greater palatine artery morphology abnormal greater sciatic notch morphology abnormal hair pattern since birth abnormal head of thigh bone abnormal heart leave ventricle morphology abnormal heart left ventricle morphology abnormal helper t cell proportion abnormal horizontal rectus muscle physiology abnormal iga level in blood abnormal igd level in blood abnormal ige level in blood abnormal igg level in blood abnormal igm level in blood abnormal inferior oblique muscle physiology abnormal inferior rectus muscle physiology abnormal inferior thyroid vein morphology abnormal inferior vena cava morphology abnormal inner ear epithelium morphology abnormal innermost 4th toe bone abnormal innermost big toe bone abnormal innermost index finger bone abnormal insertion of umbilical cord abnormal interlobular arterial lumen morphology abnormal interlobular vein lumen morphology abnormal internal carotid artery morphology abnormal iron deposition in mitochondria abnormal iron deposition in mitochondrion abnormal l - selectin shed abnormal l - selectin shedding abnormal large bone of ankle abnormal large intestinal mucosa morphology abnormal lateral cricoarytenoid muscle morphology abnormal lateral rectus muscle physiology abnormal layering of muscularis propria abnormal ldl - c concentration abnormal ldl - c level abnormal length of corpus callosum abnormal levator palpebrae superioris morphology abnormal light - adapt electroretinogram abnormal light - adapted electroretinogram abnormal location of hair swirl abnormal location of heart atrium abnormal location of the eyebrow abnormal low cranial nerve function abnormal low limb bone morphology abnormal low motor neuron morphology abnormal lower cranial nerve function abnormal lower limb bone morphology abnormal lower motor neuron morphology abnormal lymphocyte surface marker expression abnormal male genital system physiology abnormal male germ cell morphology abnormal male reproductive system physiology abnormal male urethral meatus morphology abnormal mandible condylar process morphology abnormal mandible coronoid process morphology abnormal manual kinetic perimetry test abnormal maturation of ankle bone abnormal maturation of ankle bones abnormal maturation of foot bone abnormal maturation of foot bones abnormal maturation of rib bone abnormal maturation of rib bones abnormal mean corpuscular haemoglobin concentration abnormal mean corpuscular hb concentration abnormal mean corpuscular hemoglobin concentration abnormal medial rectus muscle physiology abnormal medullary peritubular capillary morphology abnormal mhc ii surface expression abnormal middle bone of toe abnormal middle bones of toe abnormal middle index finger bone abnormal migration of corneal endothelium abnormal mitochondria in muscle tissue abnormal mitochondrion in muscle tissue abnormal mitral valve annulus morphology abnormal mitral valve leaflet morphology abnormal morphology of bowman capsule abnormal morphology of frontal bone abnormal morphology of myocardial trabecula abnormal morphology of myocardial trabeculae abnormal morphology of the amygdala abnormal morphology of the face abnormal morphology of the hippocampus abnormal morphology of the midface abnormal morphology of the radius abnormal motor nerve conduction velocity abnormal muscle fiber alpha dystroglycan abnormal muscle fiber alpha sarcoglycan abnormal muscle fiber beta sarcoglycan abnormal muscle fiber delta sarcoglycan abnormal muscle fiber dystrophin expression abnormal muscle fiber gamma sarcoglycan abnormal muscle fiber merosin expression abnormal muscle fiber protein expression abnormal muscle fibre alpha dystroglycan abnormal muscle fibre alpha sarcoglycan abnormal muscle fibre beta sarcoglycan abnormal muscle fibre delta sarcoglycan abnormal muscle fibre dystrophin expression abnormal muscle fibre gamma sarcoglycan abnormal muscle fibre merosin expression abnormal muscle fibre protein expression abnormal naive t cell proportion abnormal natural killer cell count abnormal natural killer cell morphology abnormal natural killer cell physiology abnormal natural killer subset distribution abnormal neck of thigh bone abnormal number of adult teeth abnormal number of alpha granule abnormal number of alpha granules abnormal number of b cell abnormal number of b cells abnormal number of dense granule abnormal number of dense granules abnormal number of erythroid precursor abnormal number of erythroid precursors abnormal number of front teeth abnormal number of granulocyte precursor abnormal number of granulocyte precursors abnormal number of hair swirl abnormal number of hair swirls abnormal number of hair whorl abnormal number of hair whorls abnormal number of permanent teeth abnormal number of secondary dentition abnormal number of t cell abnormal number of t cells abnormal numbers of b cells abnormal of morphology of nose abnormal of shape of nose abnormal ossification involve metatarsal bone abnormal ossification involving metatarsal bones abnormal ossification of hand bone abnormal ossification of hand bones abnormal ossification of tarsal bone abnormal ossification of tarsal bones abnormal ossification of the sacrum abnormal ossification of the scaphoid abnormal ossification of the trapezium abnormal peripheral action potential amplitude abnormal peripheral nervous system morphology abnormal peripheral nervous system physiology abnormal peripheral nervous system structure abnormal periventricular white matter morphology abnormal pigmentation of oral cavity abnormal pinhole visual acuity test abnormal platelet alpha granule secretion abnormal platelet dense granule secretion abnormal platelet membrane protein expression abnormal portal venous system morphology abnormal position of hair whorl abnormal posterior circulate artery morphology abnormal posterior circulating artery morphology abnormal posterior cranial fossa morphology abnormal posterior eye segment morphology abnormal proportion of cd19+cd38+igm+ cell abnormal proportion of cd19+cd38+igm+ cells abnormal proportion of cd4+cd29+ cell abnormal proportion of cd4+cd29+ cells abnormal proportion of cd4+cd45ra+ cell abnormal proportion of cd4+cd45ra+ cells abnormal pulmonary alveolar system development abnormal pulmonary alveolar system morphology abnormal pulmonary thoracic image find abnormal pulmonary thoracic imaging finding abnormal pulmonary valve cusp morphology abnormal rapid eye movement sleep abnormal red blood cell count abnormal regional leave ventricular contraction abnormal regional left ventricular contraction abnormal renal arteriole endothelium morphology abnormal renal arteriole lumen morphology abnormal renal collecting system morphology abnormal renal glomerular capsule morphology abnormal renal tubular epithelial morphology abnormal renal tubular lumen morphology abnormal renal tubular luminal morphology abnormal respiratory motile cilium morphology abnormal respiratory motile cilium physiology abnormal rhythmic movement of ankle abnormal rhythmic movements of ankle abnormal rod and cone electroretinogram abnormal rotation of the kidney abnormal rotation of the kidneys abnormal rv / tlc ratio abnormal sensory nerve conduction velocity abnormal serum bile acid concentration abnormal serum level of immunoglobulin abnormal shape of ankle bone abnormal shape of ankle bones abnormal shape of hypophysial fossa abnormal shape of limb bone abnormal shape of long bone abnormal shape of metacarpal bone abnormal shape of metacarpal bones abnormal shape of molar tooth abnormal shape of motor neuron abnormal shape of nervous system abnormal shape of pelvis bone abnormal shape of pituitary fossa abnormal shape of posterior cranium abnormal shape of posterior head abnormal shape of posterior skull abnormal shape of sella turcica abnormal shape of spongy bone abnormal shape of the forehead abnormal shape of the occiput abnormal shape of the radius abnormal shape of thyroid gland abnormal sixth cranial nerve morphology abnormal size of corpus callosum abnormal size of nasopharyngeal adenoid abnormal size of nasopharyngeal adenoids abnormal size of pituitary gland abnormal size of the clitoris abnormal size of the eye abnormal size of the eyes abnormal skeletal muscle fiber morphology abnormal skeletal muscle fibre morphology abnormal small intestinal mucosa morphology abnormal sperm principal piece morphology abnormal spinal dura mater morphology abnormal static automate perimetry test abnormal static automated perimetry test abnormal subcutaneous fat tissue distribution abnormal superior cerebellar peduncle morphology abnormal superior oblique muscle physiology abnormal superior rectus muscle physiology abnormal superior vena cava morphology abnormal t - cell activation abnormal t - lymphocyte activation abnormal t cell subset distribution abnormal t3 / t4 ratio abnormal tarsal bone mineral density abnormal terminal : vellus ratio abnormal thalamic mri signal intensity abnormal timing of pattern electroretinogram abnormal total hemolytic complement activity abnormal total iron binding capacity abnormal tricuspid chordae tendinae morphology abnormal tricuspid valve annulus morphology abnormal tricuspid valve leaflet morphology abnormal tubular basement membrane morphology abnormal type ii pneumocyte morphology abnormal umbilical cord blood vessel abnormal umbilical cord blood vessels abnormal unaided visual acuity test abnormal upper limb bone morphology abnormal upper motor neuron morphology abnormal urine carboxylic acid level abnormal urine citric acid concentration abnormal urine cl - concentration abnormal urine decanedioic acid concentration abnormal urine sebacic acid concentration abnormal ventriculo - arterial connection abnormal vertebral segmentation and fusion abnormal vertical rectus muscle physiology abnormal vestibulo - ocular reflex abnormal visceral epithelial cell morphology abnormal vistech contrast sensitivity test abnormal visual - evoked potential abnormal visual - evoked potentials abnormal visual behavior for age abnormal visual behaviour for age abnormal waist to hip ratio abnormal white blood cell count abnormality nasal septum cartilage morphology abnormality of 2nd finger phalanges abnormality of 2nd finger phalanx abnormality of 3rd finger phalanges abnormality of 3rd finger phalanx abnormality of alignment of incisor abnormality of alignment of incisors abnormality of alignment of teeth abnormality of alkaline phosphatase activity abnormality of alkaline phosphatase level abnormality of amino acid metabolism abnormality of anterior ethmoidal artery abnormality of b cell count abnormality of b cell number abnormality of b cell numbers abnormality of b cell physiology abnormality of base of nose abnormality of blood glucose concentration abnormality of blood volume homeostasis abnormality of body mass index abnormality of bone mineral density abnormality of buccal fat pad abnormality of cardiac atrium morphology abnormality of cardiac conduction system abnormality of cardiovascular system electrophysiology abnormality of cardiovascular system morphology abnormality of cardiovascular system physiology abnormality of carpal bone ossification abnormality of cartilage of nose abnormality of cd4+ t cell abnormality of cd4+ t cells abnormality of central motor conduction abnormality of central motor function abnormality of central retinal artery abnormality of central sensory function abnormality of circulate acth level abnormality of circulate adrenocorticotropin level abnormality of circulate b2m level abnormality of circulate beta2m level abnormality of circulate catecholamine level abnormality of circulate corticosterone level abnormality of circulate corticotropin level abnormality of circulate cortisol level abnormality of circulate enzyme level abnormality of circulate glucocorticoid level abnormality of circulate hormone level abnormality of circulate leptin level abnormality of circulate pregnenolone level abnormality of circulate protein level abnormality of circulating acth level abnormality of circulating adrenocorticotropin level abnormality of circulating b2m level abnormality of circulating beta2m level abnormality of circulating catecholamine level abnormality of circulating corticosterone level abnormality of circulating corticotropin level abnormality of circulating cortisol level abnormality of circulating enzyme level abnormality of circulating glucocorticoid level abnormality of circulating hormone level abnormality of circulating leptin level abnormality of circulating pregnenolone level abnormality of circulating protein level abnormality of citric acid cycle abnormality of cranial bone morphology abnormality of cranial nerve 12 abnormality of cranial nerve xi abnormality of cranial nerve xii abnormality of cranial vault shape abnormality of deciduous molar morphology abnormality of depressor labii inferioris abnormality of descemet 's membrane abnormality of digestive system morphology abnormality of digestive system physiology abnormality of dorsal nasal artery abnormality of endocrine pancreas physiology abnormality of enteric ganglion morphology abnormality of enteric neuron morphology abnormality of erythroid lineage cell abnormality of ethmoidal air cell abnormality of ethmoidal air cells abnormality of exocrine pancreas physiology abnormality of external carotid artery abnormality of external jugular vein abnormality of extrapyramidal motor function abnormality of extrinsic lingual muscle abnormality of eye blood vessel abnormality of eye blood vessels abnormality of facial adipose tissue abnormality of facial soft tissue abnormality of fatty acid anion abnormality of fatty acid metabolism abnormality of female external genitalia abnormality of female internal genitalia abnormality of femoral head development abnormality of finger or toe abnormality of fingers or toes abnormality of folate in blood abnormality of foot cortical bone abnormality of frenum of tongue abnormality of frontalis muscle belly abnormality of gi blood vessel abnormality of gi blood vessels abnormality of great palatine artery abnormality of great sciatic notch abnormality of greater palatine artery abnormality of greater sciatic notch abnormality of growth plate morphology abnormality of hair curl pattern abnormality of hair growth rate abnormality of hand cortical bone abnormality of hand joint mobility abnormality of head blood vessel abnormality of head or neck abnormality of hepatobiliary system physiology abnormality of high mental function abnormality of higher mental function abnormality of horizontal incisor relationship abnormality of immune system physiology abnormality of inferior alveolar artery abnormality of inferior alveolar nerve abnormality of inferior thyroid vein abnormality of internal carotid artery abnormality of internal jugular vein abnormality of intrinsic lingual muscle abnormality of iris blood vessel abnormality of iris blood vessels abnormality of krebs cycle metabolism abnormality of lateral cricoarytenoid muscle abnormality of lateral pterygoid muscle abnormality of levator anguli oris abnormality of levator labii superioris abnormality of limb bone morphology abnormality of limb epiphysis morphology abnormality of lining of mouth abnormality of lipoprotein cholesterol concentration abnormality of liver blood vessel abnormality of liver blood vessels abnormality of long bone morphology abnormality of low limb bone abnormality of low limb joint abnormality of lower limb bone abnormality of lower limb joint abnormality of male external genitalia abnormality of male internal genitalia abnormality of mandible condylar process abnormality of mandible coronoid process abnormality of medial pterygoid muscle abnormality of medullary pyramid morphology abnormality of mesenteric lymph node abnormality of mesenteric lymph nodes abnormality of metabolism / homeostasis abnormality of middle finger phalanges abnormality of middle finger phalanx abnormality of mucosa of mouth abnormality of mucosa of nose abnormality of muscle of mastication abnormality of muscle of nose abnormality of muscles of mastication abnormality of musculature of pharynx abnormality of nasal mucous membrane abnormality of natural killer cell abnormality of natural killer cells abnormality of neck blood vessel abnormality of nervous system morphology abnormality of nervous system physiology abnormality of neural tube closure abnormality of ocular smooth pursuit abnormality of olfactory lobe morphology abnormality of optic chiasm morphology abnormality of oral mucous membrane abnormality of orbicularis oris muscle abnormality of ossification of calvarium abnormality of ossification of cranium abnormality of pattern reversal vep abnormality of peripheral nerve conduction abnormality of permanent molar morphology abnormality of phalanx of finger abnormality of position of incisor abnormality of position of incisors abnormality of position of teeth abnormality of primary molar morphology abnormality of proximal thumb phalanx abnormality of radial epiphyseal plate abnormality of radial epiphyseal plates abnormality of red blood cell abnormality of red blood cells abnormality of renal calyx morphology abnormality of renal cortex morphology abnormality of renal glomerulus morphology abnormality of reproductive system physiology abnormality of retina blood vessel abnormality of retina blood vessels abnormality of retinal pigment epithelium abnormality of saccadic eye movement abnormality of saccadic eye movements abnormality of secondary sexual hair abnormality of septum of nose abnormality of serum cytokine level abnormality of shape of bicuspid abnormality of shape of incisor abnormality of shape of premolar abnormality of shape of tooth abnormality of skin adnexa morphology abnormality of skin adnexa physiology abnormality of skull bone formation abnormality of skull bone morphology abnormality of soft palate muscle abnormality of soft palate muscles abnormality of somatic nerve plexus abnormality of somatosensory evoke potential abnormality of somatosensory evoked potentials abnormality of spacing of incisor abnormality of spacing of incisors abnormality of spinal facet joint abnormality of stem of antihelix abnormality of subcortical white matter abnormality of subcutaneous fat tissue abnormality of synovial bursa morphology abnormality of t cell number abnormality of t cell physiology abnormality of terminal thumb epiphysis abnormality of terminal thumb phalanx abnormality of the 1st metacarpal abnormality of the 2nd finger abnormality of the 2nd metacarpal abnormality of the 2nd toe abnormality of the 3rd finger abnormality of the 3rd metacarpal abnormality of the 3rd toe abnormality of the 4th finger abnormality of the 4th metacarpal abnormality of the 4th toe abnormality of the 5th finger abnormality of the 5th metacarpal abnormality of the 5th toe abnormality of the abdominal musculature abnormality of the abdominal organ abnormality of the abdominal organs abnormality of the abdominal wall abnormality of the accessory nerve abnormality of the achilles tendon abnormality of the acoustic reflex abnormality of the adrenal gland abnormality of the adrenal glands abnormality of the alveolar ridge abnormality of the alveolar ridges abnormality of the amniotic fluid abnormality of the anterior chamber abnormality of the anterior commissure abnormality of the anterior fontanelle abnormality of the anterior pituitary abnormality of the aortic arch abnormality of the aortic valve abnormality of the arachnoid mater abnormality of the aryepiglottic fold abnormality of the atrial septum abnormality of the atrioventricular valve abnormality of the atrioventricular valves abnormality of the auditory canal abnormality of the axial skeleton abnormality of the axillary hair abnormality of the back musculature abnormality of the basal ganglia abnormality of the basal ganglion abnormality of the big toe abnormality of the biliary system abnormality of the bregma suture abnormality of the bregma sutures abnormality of the calcaneal tendon abnormality of the calf bone abnormality of the calf musculature abnormality of the calvarium suture abnormality of the calvarium sutures abnormality of the capitate bone abnormality of the cardiac septa abnormality of the cardiac septum abnormality of the cardiovascular system abnormality of the carotid arteries abnormality of the carotid artery abnormality of the carpal bone abnormality of the carpal bones abnormality of the caudate nucleus abnormality of the celiac artery abnormality of the cell cycle abnormality of the cerebellar peduncle abnormality of the cerebellar vermis abnormality of the cerebral arteries abnormality of the cerebral artery abnormality of the cerebral cortex abnormality of the cerebral falx abnormality of the cerebral medulla abnormality of the cerebral subcortex abnormality of the cerebral vasculature abnormality of the cerebral ventricle abnormality of the cerebral ventricles abnormality of the cerebrospinal fluid abnormality of the cervical spine abnormality of the cervical vasculature abnormality of the cervical vertebra abnormality of the cervical vertebrae abnormality of the chest musculature abnormality of the ciliary body abnormality of the coagulation cascade abnormality of the cochlear nerve abnormality of the coeliac artery abnormality of the corneal limbus abnormality of the coronary sinus abnormality of the corpus callosum abnormality of the corticospinal tract abnormality of the costochondral junction abnormality of the cranial nerve abnormality of the cranial nerves abnormality of the cranial suture abnormality of the cranial sutures abnormality of the deltoid tuberosities abnormality of the deltoid tuberosity abnormality of the dental pulp abnormality of the dental root abnormality of the dentate nucleus abnormality of the digestive system abnormality of the ductus choledochus abnormality of the dura mater abnormality of the elbow metaphyses abnormality of the endocrine system abnormality of the enteric ganglia abnormality of the enteric ganglion abnormality of the eustachian tube abnormality of the external ear abnormality of the external nose abnormality of the extraocular muscle abnormality of the extraocular muscles abnormality of the extrinsic pathway abnormality of the eye region abnormality of the facial nerve abnormality of the fallopian tube abnormality of the falx cerebri abnormality of the female genitalia abnormality of the femoral head abnormality of the femoral metaphysis abnormality of the femoral neck abnormality of the fibrinolytic system abnormality of the finger bone abnormality of the finger bones abnormality of the foot musculature abnormality of the foramen magnum abnormality of the forehead sinus abnormality of the fourth ventricle abnormality of the frontal bone abnormality of the frontal hairline abnormality of the gastric mucosa abnormality of the gastrointestinal tract abnormality of the genital system abnormality of the genitourinary system abnormality of the gi tract abnormality of the glenoid fossa abnormality of the glial cell abnormality of the glial cells abnormality of the glomerular mesangium abnormality of the gluteal musculature abnormality of the gu system abnormality of the haematopoietic system abnormality of the hair shaft abnormality of the hamate bone abnormality of the hard palate abnormality of the heart valve abnormality of the heart valves abnormality of the hematopoietic system abnormality of the hepatic vasculature abnormality of the hip bone abnormality of the hip joint abnormality of the hip joints abnormality of the hipbone socket abnormality of the humeral diaphysis abnormality of the humeral epiphyses abnormality of the humeral epiphysis abnormality of the humeral head abnormality of the humeral heads abnormality of the humeral metaphyses abnormality of the humeroradial joint abnormality of the humeroulnar joint abnormality of the hypoglossal nerve abnormality of the hypophysial fossa abnormality of the hypothenar eminence abnormality of the immune system abnormality of the infranasal depression abnormality of the infraorbital nerve abnormality of the inner ear abnormality of the intermaxillary bone abnormality of the internal capsule abnormality of the intervertebral disc abnormality of the intervertebral disk abnormality of the intrinsic pathway abnormality of the ischial bone abnormality of the ischial bones abnormality of the jaw joint abnormality of the labia majora abnormality of the labia minora abnormality of the labium majora abnormality of the labium minora abnormality of the lacrimal bone abnormality of the lacrimal canaliculus abnormality of the lacrimal duct abnormality of the lacrimal gland abnormality of the lacrimal punctum abnormality of the large intestine abnormality of the left hemidiaphragm abnormality of the left ventricle abnormality of the leydig cell abnormality of the leydig cells abnormality of the little finger abnormality of the little toe abnormality of the liver vasculature abnormality of the low limb abnormality of the lower limb abnormality of the lumbar spine abnormality of the lunate bone abnormality of the lymph node abnormality of the lymph nodes abnormality of the lymphatic system abnormality of the lymphatic vessel abnormality of the lymphatic vessels abnormality of the malar arch abnormality of the male genitalia abnormality of the maxillary antrum abnormality of the maxillary sinus abnormality of the medulla oblongata abnormality of the menstrual cycle abnormality of the metacarpal bone abnormality of the metacarpal bones abnormality of the metopic suture abnormality of the middle ear abnormality of the middle finger abnormality of the midnasal cavity abnormality of the mitral valve abnormality of the mouth floor abnormality of the muscular palate abnormality of the musculoskeletal system abnormality of the nasal ala abnormality of the nasal alae abnormality of the nasal bone abnormality of the nasal bridge abnormality of the nasal cartilage abnormality of the nasal cavity abnormality of the nasal dorsum abnormality of the nasal mucosa abnormality of the nasal ridge abnormality of the nasal root abnormality of the nasal septum abnormality of the nasal skeleton abnormality of the nasal tip abnormality of the nasolabial region abnormality of the nasolacrimal system abnormality of the nervous system abnormality of the nervus trigeminus abnormality of the occipital bone abnormality of the ocular adnexa abnormality of the odontoid process abnormality of the optic disc abnormality of the optic nerve abnormality of the oral cavity abnormality of the orbital region abnormality of the outer ear abnormality of the oval window abnormality of the palatine bone abnormality of the palm line abnormality of the palm lines abnormality of the palmar crease abnormality of the palmar creases abnormality of the palpebral fissure abnormality of the palpebral fissures abnormality of the paralabial region abnormality of the paranasal sinus abnormality of the paranasal sinuses abnormality of the parathyroid gland abnormality of the parathyroid morphology abnormality of the parathyroid physiology abnormality of the parietal bone abnormality of the pelvic girdle abnormality of the periorbital region abnormality of the periungual region abnormality of the pia mater abnormality of the pineal gland abnormality of the pinkie finger abnormality of the pinkie toe abnormality of the pinky finger abnormality of the pinky toe abnormality of the pituitary fossa abnormality of the pituitary gland abnormality of the platysma muscle abnormality of the posterior fossa abnormality of the posterior hairline abnormality of the posterior pituitary abnormality of the premaxillary bone abnormality of the pubic bone abnormality of the pubic bones abnormality of the pubic hair abnormality of the pulmonary artery abnormality of the pulmonary valve abnormality of the pulmonary vasculature abnormality of the pulmonary vein abnormality of the pulmonary veins abnormality of the pyramidal tract abnormality of the pyramidal tracts abnormality of the radial head abnormality of the radioulnar joint abnormality of the radioulnar joints abnormality of the renal artery abnormality of the renal medulla abnormality of the renal pelvis abnormality of the renal tubule abnormality of the reproductive system abnormality of the respiratory system abnormality of the retinal vasculature abnormality of the rib cage abnormality of the right hemidiaphragm abnormality of the right ventricle abnormality of the ring finger abnormality of the round window abnormality of the sacroiliac joint abnormality of the sacroiliac notch abnormality of the salivary gland abnormality of the salivary glands abnormality of the scalp hair abnormality of the secondary palate abnormality of the sella turcica abnormality of the septum pellucidum abnormality of the shoulder blade abnormality of the shoulder musculature abnormality of the skeletal system abnormality of the skull base abnormality of the skull bone abnormality of the skull bones abnormality of the skull cap abnormality of the skull suture abnormality of the small intestine abnormality of the soft palate abnormality of the sphenoid sinus abnormality of the sphenoidal sinus abnormality of the spinal cord abnormality of the spinal meninges abnormality of the spinocerebellar tract abnormality of the spinocerebellar tracts abnormality of the striate nucleus abnormality of the subarachnoid space abnormality of the sublingual gland abnormality of the sublingual glands abnormality of the submandibular gland abnormality of the submandibular glands abnormality of the submandibular region abnormality of the submaxillary gland abnormality of the submaxillary glands abnormality of the substantia nigra abnormality of the subungual region abnormality of the supraorbital ridge abnormality of the supraorbital ridges abnormality of the sweat gland abnormality of the tarsal bone abnormality of the tarsal bones abnormality of the temporal bone abnormality of the temporomandibular joint abnormality of the testis size abnormality of the thenar eminence abnormality of the third ventricle abnormality of the thoracic cavity abnormality of the thoracic spine abnormality of the thumb bone abnormality of the thumb bones abnormality of the thyroid gland abnormality of the tibial metaphysis abnormality of the tibial plateau abnormality of the tibial plateaux abnormality of the tongue muscle abnormality of the trabecular meshwork abnormality of the trapezoid bone abnormality of the tricarboxylic cycle abnormality of the tricuspid valve abnormality of the tubular bone abnormality of the tubular bones abnormality of the tympanic membrane abnormality of the ulnar epiphyses abnormality of the ulnar epiphysis abnormality of the umbilical cord abnormality of the upper arm abnormality of the upper limb abnormality of the urinary system abnormality of the uterine cervix abnormality of the velum palatinum abnormality of the vena cava abnormality of the ventricular septum abnormality of the vertebral artery abnormality of the vertebral column abnormality of the vertebral endplate abnormality of the vertebral endplates abnormality of the vertebral epiphyses abnormality of the vertebral epiphysis abnormality of the vestibular nerve abnormality of the vestibular window abnormality of the vestibulocochlear nerve abnormality of the vocal cord abnormality of the vocal cords abnormality of the xiphoid process abnormality of the zygomatic arch abnormality of the zygomatic bone abnormality of thighbone end part abnormality of tip of nose abnormality of toe proximal phalanx abnormality of tooth hard tissue abnormality of upper limb bone abnormality of upper limb joint abnormality of upper limb metaphysis abnormality of upper lip vermillion abnormality of urine bicarbonate concentration abnormality of urine ca concentration abnormality of urine ca2+ concentration abnormality of urine calcium concentration abnormality of urine catecholamine concentration abnormality of urine hco3 concentration abnormality of urine hormone level abnormality of vasculature of head abnormality of vertebral epiphysis morphology abnormality of visual evoked potential abnormality of visual evoked potentials abnormality of vitamin a metabolism abnormality of vitamin b metabolism abnormality of vitamin b12 metabolism abnormality of vitamin c metabolism abnormality of vitamin d metabolism abnormality of vitamin e metabolism abnormality of vitamin k metabolism abnormality of von willebrand factor abnormality of z - joint abnormality of zinn 's membrane abnormality of zygomaticus major muscle abnormality of zygomaticus minor muscle abnormality on pulmonary function test abnormality on pulmonary function testing abnormally close or absent vagina abnormally closed or absent vagina abnormally heavy bleeding during menstruation abnormally lax or hyperextensible skin abnormally loose or hyperelastic skin abnormally loose or stretchable skin abnormally low - pitch voice abnormally low - pitched voice abnormally prominent line of schwalbe abnormally small globe of eye absence of cd8+ t cell absence of cd8+ t cells absence of first permanent molar absence of globe of eye absence of globes of eyes absence of low central incisor absence of low front tooth absence of low jaw bone absence of low lateral incisor absence of lower central incisor absence of lower front tooth absence of lower jaw bone absence of lower jaw bones absence of lower lateral incisor absence of mandibular central incisor absence of mandibular lateral incisor absence of mature b cell absence of mature b cells absence of maxillary central incisor absence of maxillary lateral incisor absence of memory b cell absence of memory b cells absence of palatine bone calcification absence of palatine bone formation absence of palatine bone mineralization absence of pectoralis minor muscle absence of radius and ulna absence of renal corticomedullary differentiation absence of second permanent molar absence of secondary sex characteristic absence of secondary sex characteristics absence of six year molar absence of the intermaxillary bone absence of the nasal bone absence of the palmar crease absence of the palmar creases absence of the parotid gland absence of the pulmonary valve absence of the septum pellucidum absence of twelve year molar absence of upper front tooth absence of upper jaw bone absence of upper jaw bones absence of upper lateral incisor absence of visual evoked potential absence of visual evoked potentials absence seizure with eyelid myoclonia absence seizures with eyelid myoclonia absent / hypoplastic corpus callosum absent / hypoplastic distal phalanges absent / hypoplastic distal phalanx absent / hypoplastic middle phalanges absent / hypoplastic middle phalanx absent / hypoplastic paranasal sinus absent / hypoplastic paranasal sinuses absent / hypoplastic third toe absent / shorten dynein arm absent / shortened dynein arms absent / small 2nd toe absent / small 3rd toe absent / small 4th toe absent / small ankle bone absent / small big toe absent / small calf bone absent / small cervical spine absent / small ear lobe absent / small ear lobes absent / small external ear absent / small fallopian tube absent / small foot bone absent / small foot bones absent / small forearm bone absent / small forearm bones absent / small hand bone absent / small hand bones absent / small index finger absent / small inner ear absent / small little finger absent / small little toe absent / small middle ear absent / small middle finger absent / small optic nerve absent / small optic tract absent / small palm crease absent / small pelvis muscle absent / small pelvis muscles absent / small pinkie finger absent / small pinkie toe absent / small pinky finger absent / small pinky toe absent / small pubic bone absent / small pubic bones absent / small shoulder blade absent / small shoulder muscle absent / small shoulder muscles absent / small skeletal muscle absent / small skeletal muscles absent / small sweat gland absent / small sweat glands absent / small thigh muscle absent / small thigh muscles absent / small thumb bone absent / small thumb bones absent / small toe bone absent / small toe bones absent / small vertebral column absent / small wrist bone absent / small wrist bones absent / underdevelop 2nd toe absent / underdevelop 3rd toe absent / underdevelop 4th toe absent / underdevelop ankle bone absent / underdevelop big toe absent / underdevelop calf bone absent / underdevelop cervical spine absent / underdevelop ear lobe absent / underdevelop external ear absent / underdevelop fallopian tube absent / underdevelop forearm bone absent / underdevelop index finger absent / underdevelop inner ear absent / underdevelop lacrimal gland absent / underdevelop little finger absent / underdevelop middle ear absent / underdevelop middle finger absent / underdevelop optic nerve absent / underdevelop optic tract absent / underdevelop palm crease absent / underdevelop pelvis muscle absent / underdevelop pinkie finger absent / underdevelop pinky finger absent / underdevelop pinky toe absent / underdevelop pubic bone absent / underdevelop shoulder blade absent / underdevelop shoulder muscle absent / underdevelop skeletal muscle absent / underdevelop sweat gland absent / underdevelop tear gland absent / underdevelop thigh muscle absent / underdevelop thorax bone absent / underdevelop thumb bone absent / underdevelop toe bone absent / underdevelop vertebral column absent / underdeveloped 2nd toe absent / underdeveloped 3rd toe absent / underdeveloped 4th toe absent / underdeveloped ankle bone absent / underdeveloped big toe absent / underdeveloped calf bone absent / underdeveloped cervical spine absent / underdeveloped ear lobes absent / underdeveloped external ear absent / underdeveloped fallopian tube absent / underdeveloped foot bone absent / underdeveloped foot bones absent / underdeveloped forearm bones absent / underdeveloped hand bone absent / underdeveloped hand bones absent / underdeveloped index finger absent / underdeveloped inner ear absent / underdeveloped lacrimal glands absent / underdeveloped little finger absent / underdeveloped middle ear absent / underdeveloped middle finger absent / underdeveloped optic nerve absent / underdeveloped optic tract absent / underdeveloped palm crease absent / underdeveloped pelvis muscles absent / underdeveloped pinkie finger absent / underdeveloped pinky finger absent / underdeveloped pinky toe absent / underdeveloped pubic bones absent / underdeveloped shoulder blade absent / underdeveloped shoulder muscles absent / underdeveloped skeletal muscles absent / underdeveloped sweat glands absent / underdeveloped tear glands absent / underdeveloped thigh muscles absent / underdeveloped thorax bone absent / underdeveloped thumb bones absent / underdeveloped toe bones absent / underdeveloped vertebral column absent / underdeveloped wrist bone absent / underdeveloped wrist bones absent bone maturation in sternum absent bone maturation of skullcap absent bone of big toe absent bone of the extremity absent bone of the toe absent bones of the extremities absent bones of the toes absent cutis congenita of vertex absent end part of bone absent end part of finger absent end part of fingers absent epiphyses of the fingers absent epiphyses of the hallux absent epiphyses of the thumb absent epiphyses of the toes absent epiphysis of the finger absent epiphysis of the hallux absent epiphysis of the thumb absent epiphysis of the toe absent fat below the skin absent in utero rib ossification absent innermost 2nd toe bone absent innermost ring finger bone absent kidney on one side absent leave main coronary artery absent leave sided atrioventricular connection absent leave sided atrioventricular connexion absent left main coronary artery absent left sided atrioventricular connection absent left sided atrioventricular connexion absent long bone of foot absent long bone of hand absent low limb tendon reflex absent lower limb tendon reflexes absent middle bone of hand absent middle bones of hand absent muscle fiber alpha sarcoglycan absent muscle fiber beta sarcoglycan absent muscle fiber delta sarcoglycan absent muscle fiber gamma sarcoglycan absent muscle fibre alpha sarcoglycan absent muscle fibre beta sarcoglycan absent muscle fibre delta sarcoglycan absent muscle fibre gamma sarcoglycan absent nail of big toe absent nail of fifth finger absent or rudimentary fallopian tube absent or rudimentary fallopian tubes absent ossification / absent ulna absent ossification of skull vault absent ossification of the trapezium absent outermost index finger bone absent outermost little finger bone absent outermost pinkie finger bone absent outermost pinky finger bone absent pigmentation in the eye absent pigmentation of the abdomen absent pigmentation of the limb absent pigmentation of the limbs absent proximal finger flexion crease absent proximal finger flexion creases absent proximal phalanx of thumb absent pubic ossification in infancy absent rib calcification in utero absent right side atrioventricular connection absent right side atrioventricular connexion absent right sided atrioventricular connection absent right sided atrioventricular connexion absent right superior vena cava absent styloid process of ulna absent terminal index finger phalanx absent the eighth cranial nerve absent toenail ( anonychia ) absent toenails ( anonychia ) accelerate bone age after puberty accelerate maturation of hand bone accelerated bone age after puberty accelerated maturation of hand bones accessory phalanx of the thumb accessory proximal metacarpal ossification center accessory proximal metacarpal ossification centers accessory proximal metacarpal ossification centre accessory proximal metacarpal ossification centres accumulation of melanosomes in melanocyte accumulation of melanosomes in melanocytes accumulation of muscle fiber desmin accumulation of muscle fiber myotilin accumulation of muscle fibre desmin accumulation of muscle fibre myotilin acid - labile subunit deficiency acromelia of the low limb acromelia of the lower limbs acromelia of the upper limb acromelia of the upper limbs acth - produce pituitary adenoma acth - producing pituitary adenoma acute episode of neuropathic symptom acute episodes of neuropathic symptoms acute infantile spinal muscular atrophy adenocarcinoma of the large intestine adenocarcinoma of the small intestine adenoma of the ceruminous gland adhesion of the temporomandibular joint adult - onset night blindness adult onset sensorineural hearing impairment advanced ossification of carpal bone advanced ossification of carpal bones advanced pneumatization of cranial sinus advanced pneumatization of cranial sinuses afro - textured scalp hair aganglionosis of the small intestine age - related cortical cataract age - related nuclear cataract ageneis of nasal septal cartilage agenesis / hypoplastic corpus callosum agenesis of bridge of nose agenesis of cartilage of nose agenesis of cupid 's bow agenesis of mandibular central incisor agenesis of mandibular lateral incisor agenesis of maxillary central incisor agenesis of maxillary lateral incisor agenesis of second permanent molar agenesis of six year molar agenesis of the anterior commissure agenesis of the carotid canal agenesis of the corpus callosum agenesis of the hippocampal commissure agenesis of the lacrimal punctum agenesis of the low vagina agenesis of the lower vagina agenesis of the nasal bone agenesis of the septum pellucidum agenesis of the small intestine agenesis of the soft palate agenesis of twelve year molar aggressive papillary middle ear tumor aggressive papillary middle ear tumour akinesia of the upper extremities akinesia of the upper extremity allergy to alpha - gal allergy to house dust mite allergy to house dust mites allergy to nut food product allergy to nut food products almond - shaped palpebral fissure altman type i sacrococcygeal teratoma altman type ii sacrococcygeal teratoma altman type iii sacrococcygeal teratoma altman type iv sacrococcygeal teratoma alveolar bone loss around teeth ambiguous external genitalia at birth ambiguous genitalia due to virilization amelia involve the low limb amelia involve the upper limb amelia involving the lower limbs amelia involving the upper limbs aminoglycoside - induced hearing loss amniotic constriction ring of arm amniotic constriction ring of digit amniotic constriction ring of leg amniotic constriction rings of arms amniotic constriction rings of digits amniotic constriction rings of legs amyotrophy involve the shoulder musculature amyotrophy involve the upper limb amyotrophy involving the shoulder musculature amyotrophy involving the upper limbs amyotrophy of distal limb muscle amyotrophy of distal limb muscles amyotrophy of the thigh musculature anal canal squamous cell carcinoma anal margin basal cell carcinoma anal margin paget 's disease anal margin squamous cell carcinoma anaplastic carcinoma of the skin anaplastic large - cell lymphoma aneurysm of an abdominal artery aneurysm of the aortic sinus angioectasia of mucosa of nose angioectasia of nasal mucous membrane angioectasia of the oral mucosa angioectasias of the oral cavity angioid streak of the fundus angioid streak of the retina angioid streaks of the fundus angioid streaks of the retina ankylosis of feet small joints ankylosis of foot small joint anomalous rib insertion to vertebrae anomaly of base of nose anomaly of cartilage of nose anomaly of facial soft tissue anomaly of low limb diaphysis anomaly of lower limb diaphyses anomaly of septum of nose anomaly of the basal ganglia anomaly of the basal ganglion anomaly of the biliary tract anomaly of the ethmoid bone anomaly of the external nose anomaly of the frontal bone anomaly of the hypophysial fossa anomaly of the lacrimal bone anomaly of the limb diaphyses anomaly of the limb diaphysis anomaly of the low lip anomaly of the lower lip anomaly of the malar arch anomaly of the malar bone anomaly of the malar bones anomaly of the metacarpal bone anomaly of the metacarpal bones anomaly of the nasal bone anomaly of the nasal bones anomaly of the nasal ridge anomaly of the nasal skeleton anomaly of the nasolabial region anomaly of the palatine bone anomaly of the parotid gland anomaly of the periauricular region anomaly of the periorbital region anomaly of the pituitary fossa anomaly of the pulmonary valve anomaly of the sella turcica anomaly of the temporomandibular joint anomaly of the upper lip anomaly of the zygomatic arch anomaly of the zygomatic bone anterior and posterior rib cup anterior and posterior rib cupping anterior atlanto - occipital dislocation anterior beaking of lumbar vertebra anterior beaking of lumbar vertebrae anterior beaking of thoracic vertebra anterior beaking of thoracic vertebrae anterior beaking of vertebral bodies anterior beaking of vertebral body anterior bowing of long bone anterior bowing of long bones anterior bulging of the globe anterior chamber cell grade 0 anterior chamber cell grade 0.5+ anterior chamber cell grade 1+ anterior chamber cell grade 2+ anterior chamber cell grade 3+ anterior chamber cell grade 4+ anterior chamber cells grade 0 anterior chamber cells grade 0.5+ anterior chamber cells grade 1+ anterior chamber cells grade 2+ anterior chamber cells grade 3+ anterior chamber cells grade 4+ anterior chamber flare grade 1+ anterior chamber flare grade 2+ anterior chamber flare grade 3+ anterior chamber flare grade 4+ anterior chamber red blood cell anterior chamber red blood cells anterior clefting of vertebral bodies anterior clefting of vertebral body anterior concavity of thoracic vertebra anterior concavity of thoracic vertebrae anterior dislocation of radial head anterior fontanelle open in adult anterior fontanelle open in adults anterior open - bite malocclusion anterior position of the premaxilla anterior predominant subcortical band heterotopia anterior predominant thick cortex pachygyria anterior rounding of vertebral bodies anterior rounding of vertebral body anterior scalloping of vertebral bodies anterior scalloping of vertebral body anterior segment of eye aplasia anti - ak5 antibody positivity anti - ampar antibody positivity anti - aqp4 antibody positivity anti - bp180 antibody positivity anti - bp230 antibody positivity anti - bpi antibody positivity anti - carp viii antibody anti - centromere antibody positivity anti - d2 r antibody anti - dsdna antibody positivity anti - endomysial antibody positivity anti - envoplakin antibody positivity anti - etg antibody positivity anti - gabaa r antibody anti - gad antibody positivity anti - ganglioside antibody positivity anti - glycine receptor antibody anti - gp210 antibody positivity anti - h1 antibody positivity anti - h2a antibody positivity anti - h2b antibody positivity anti - h3 antibody positivity anti - h4 antibody positivity anti - histone antibody positivity anti - hla antibody positivity anti - integrin antibody positivity anti - labd97 antibody positivity anti - laminin antibody positivity anti - mda5 antibody positivity anti - mi2 antibody positivity anti - mog antibody positivity anti - mpo antibody positivity anti - myeloperoxidase antibody positivity anti - p62 antibody positivity anti - periplakin antibody positivity anti - pituitary antibody positivity anti - pla2r antibody positivity anti - pr3 antibody positivity anti - reticulin antibody positivity anti - ribonucleoprotein antibody positivity anti - rnp - antibodies anti - rnp - antibody anti - ryanodine receptor antibody anti - sp100 antibody positivity anti - thrombin iii deficiency anti - thyroglobulin antibody positivity anti - transglutaminase 6 antibody anti - ttg antibody positivity antihelix , stem , serpiginous antihelix , stem , underdevelop antihelix , stem , underdeveloped antimongoloid slant of palpebral fissure antimongoloid slant of palpebral fissures aortic smooth muscle cell disorganisation aortic smooth muscle cell disorganization aorto - leave ventricular tunnel aorto - left ventricular tunnel aorto - right ventricular tunnel aphalangy , hand and foot aphalangy , hands and feet aphalangy of hand and foot aphalangy of hands and feet apical muscular ventricular septal defect apically displaced anterolateral papillary muscle aplasia / hypoplasia of finger aplasia / hypoplasia of fingers aplasia / hypoplasia of thumb aplasia / hypoplasia of thumbs aplasia / hypoplasia of toe aplasia cutis congenita of scalp aplasia cutis congenita of vertex aplasia of cranial nerve viii aplasia of cupid 's bow aplasia of internal carotid artery aplasia of outermost hand bone aplasia of the 1st metacarpal aplasia of the 1st metatarsal aplasia of the 2nd finger aplasia of the 2nd metacarpal aplasia of the 3rd finger aplasia of the 3rd metacarpal aplasia of the 4th finger aplasia of the 4th metacarpal aplasia of the 5th finger aplasia of the 5th metacarpal aplasia of the eustachian tube aplasia of the fallopian tube aplasia of the falx cerebri aplasia of the femoral head aplasia of the femoral neck aplasia of the forearm bone aplasia of the forearm bones aplasia of the glenoid fossa aplasia of the index finger aplasia of the inner ear aplasia of the intermaxillary bone aplasia of the interphalangeal crease aplasia of the interphalangeal creases aplasia of the left hemidiaphragm aplasia of the low vagina aplasia of the lower vagina aplasia of the metatarsal bone aplasia of the metatarsal bones aplasia of the nasal bone aplasia of the olfactory bulb aplasia of the olfactory tract aplasia of the optic tract aplasia of the palmar crease aplasia of the palmar creases aplasia of the parotid gland aplasia of the pituitary gland aplasia of the pyramidal tract aplasia of the right hemidiaphragm aplasia of the semicircular canal aplasia of the sweat gland aplasia of the sweat glands aplasia of the tarsal bone aplasia of the tarsal bones aplasia of the upper vagina aplastic / hypoplastic distal phalanges aplastic / hypoplastic distal phalanx aplastic / hypoplastic lacrimal gland aplastic / hypoplastic lacrimal glands aplastic / hypoplastic middle phalanges aplastic / hypoplastic middle phalanx aplastic / hypoplastic nasopharyngeal adenoid aplastic / hypoplastic nasopharyngeal adenoids aplastic / hypoplastic toe phalanges aplastic / hypoplastic toe phalanx arc - shape blind spot arc - shaped blind spot architectural distortion of the lung arcuate artery endoarterial leukocyte hypercellularity arcuate artery endoarterial lymphocyte hypercellularity arcuate artery endoarterial neutrophil hypercellularity arcuate artery intimal mucoid edema arcuate artery lumen cholesterol emboli arcuate artery lumen cholesterol embolus arcuate artery lumen organize thrombus arcuate artery lumen organized thrombi arcuate intimal / medial venulitis arcuate vein intimal mucoid edema arcuate vein lumen cholesterol emboli arcuate vein lumen cholesterol embolus arcuate vein lumen organize thrombus arcuate vein lumen organized thrombi area of dysmyelination on mri areas of dysmyelination on mri areflexia of the low limb areflexia of the lower limbs arnold chiari type i malformation arteriosclerosis of small cerebral arteries arteriosclerosis of small cerebral artery arteriovenous malformation of the lip arteriovenous malformation of the maxilla arthritis of the big toe arthrogryposis - like hand anomaly asymmetric , linear skin defect asymmetric , linear skin defects asymmetry of spinal facet joint asymmetry of spinal facet joints asymmetry of the posterior cranium asymmetry of the posterior head asymmetry of the posterior skull asymmetry of the upper jaw asymmetry of tip of nose atresia of the eustachian tube atresia of the large intestine atresia of the va deferens atresia of the vas deferens atrioventricular re - entry tachycardia atrophy of dorsum of tongue atrophy of facial adipose tissue atrophy of half of face atrophy of small intestinal villi atrophy of small intestinal villus atrophy of the cerebellar vermis atrophy of the corpus callosum atrophy of the dentate nucleus atrophy of the spinal cord attention deficit - hyperactivity disorder attenuation of retinal blood vessel attenuation of retinal blood vessels atypical appearance of female genitals atypical or prolonged liver inflammation autism with high cognitive abilities autism with high cognitive ability avulsion fracture epiphysis of femur avulsion fractured epiphysis of femur axial malrotation of the kidney band - shaped corneal dystrophy basal lamina onion bulb formation basalioma of the outer ear basic ( constant ) esotropia basic ( constant ) exotropia beaten - bronze macular appearance beaten - bronze macular sheen benign neoplasm of the cns bifid distal phalanges of toes bifid distal phalanx of hallux bifid distal phalanx of thumb bifid distal phalanx of toe bifid terminal phalanges of thumbs bifid terminal phalanx of thumb bifid terminal phalanx of toe big cranium present at birth big cranium present since birth big head present at birth big head present since birth big skull present at birth big skull present since birth bilateral alveolar cleft of maxilla bilateral asymmetric neonatal sequential seizure bilateral choanal atresia / stenosis bilateral cleft lip and palate bilateral progressive sensorineural hearing loss bilateral single transverse palmar crease bilateral single transverse palmar creases bilateral symmetric neonatal sequential seizure bilateral tonic - clonic seizure bird - like facial appearance birth length < 3rd percentile birth weight > 90th percentile bitot spot of the conjunctiva bitot spots of the conjunctiva bleed require red cell transfusion bleeding requiring red cell transfusion blood clot in blood vessel blood clot in cerebral vein blood clot in liver vein blood clot in mesentertic vein blood clot in portal vein blood clot in splanchnic vein blotch pigmentation of the skin blotching pigmentation of the skin blotchy loss of skin color blotchy loss of skin colour blue discoloration of the skin bone - marrow foam cell bone - marrow foam cells bone distal epiphysis of radius bone distal phalanx of manus bone distal tarsal bone 2 bone distal tarsal bone 3 bone fusion involve the elbow bone fusion involve the shinbone bone fusion involving the elbow bone fusion involving the shinbone bone lateral malleolus of fibula bone loss around tooth root bone manual digit 1 phalanx bone middle phalanx of manus bone middle phalanx of pe bone middle phalanx of pes bone navicular bone of pe bone navicular bone of pes bone proximal phalanx of manus bone skeleton of manual acropodium bone sternal end of clavicle bow and upward slanting eyebrow bowed and upward slanting eyebrows bowing of the distal tibia bowing of the long bone bowing of the long bones bowing of the vocal cord bowing of the vocal cords bowman - space proteinaceous debris boxer - like facial appearance brachymesophalangy ii ( finger ) brachymesophalangy iii ( finger ) brachymesophalangy iv ( finger ) brachymesophalangy v ( finger ) bracket epiphyses of the fingers bracket epiphyses of the hallux bracket epiphyses of the thumb bracket epiphyses of the toes bracket epiphysis of the finger bracket epiphysis of the hallux bracket epiphysis of the thumb bracket epiphysis of the toe brief seizure with star spell brief seizures with staring spells broad alveolar process of jaw broad alveolar processes of jaw broad bone of big toe broad bone of ring finger broad bones of ring finger broad cortex of long bone broad cortex of long bones broad distal phalanx of finger broad inferior crus of antihelix broad innermost little finger bone broad innermost pinkie finger bone broad innermost pinky finger bone broad innermost ring finger bone broad late close cranial suture broad late closing cranial sutures broad middle 3rd toe bone broad middle 4th toe bone broad middle phalanges of finger broad middle phalanx of finger broad opening between the eyelid broad opening between the eyelids broad outermost little finger bone broad outermost pinkie finger bone broad outermost pinky finger bone broad phalanges of the hallux broad phalanges of the hand broad phalanges of the thumb broad phalanx of the hallux broad phalanx of the hand broad phalanx of the thumb broad phalanx of the toe broad phalanx of the toes broad proximal phalanx of toe broad shaft of long bone broad wide portion of shankbone broad wide portion of shinbone broadening of the distal radius bulge end part of bone bulging end part of bone bulging of the costochondral junction bullet - shape 1st metacarpal bullet - shape 1st metatarsal bullet - shape hallux phalanx bullet - shape toe bone bullet - shape toe phalanx bullet - shaped 1st metacarpal bullet - shaped 1st metatarsal bullet - shaped hallux phalanx bullet - shaped hand bone bullet - shaped hand bones bullet - shaped thumb bone bullet - shaped thumb phalanx bullet - shaped toe bone bullet - shaped toe phalanx buried teeth encased in mucopolysaccharide bury teeth encase in mucopolysaccharide c1 - c2 vertebral abnormality calcification of the achilles tendon calcification of the auricular cartilage calcification of the basal ganglia calcification of the basal ganglion calcification of the cardiac valve calcifications of the cardiac valves camptodactyly of proximal interphalangeal joint camptodactyly of the 2nd toe camptodactyly of the 3rd finger camptodactyly of the 3rd toe camptodactyly of the 4th finger camptodactyly of the 4th toe camptodactyly of the 5th toe camptodactyly of the fifth toe camptodactyly of the fourth toe camptodactyly of the ring finger camptodactyly of the second toe camptodactyly of the third finger cancer of early nerve cell cancer of early nerve cells cancer of skin pigment cell cancer of skin pigment cells capillary malformation of the lip cataract , congenital , cerulean cataracts , congenital , cerulean caudal narrowing of interpedicular distance caudal narrowing of interpedicular distances cavernous hemangioma of the face cavitation of the basal ganglia cavitation of the basal ganglion cd4+ t - cell lymphopenia cd8+ t - cell lymphopenia cellular hypersensitivity to mitomycin c central cleft lip and palate central opacification of the cornea central retinal vessel vascular tortuosity central y - shape metacarpal central y - shaped metacarpal centrally nucleated skeletal muscle fiber centrally nucleated skeletal muscle fibers centrally nucleated skeletal muscle fibre centrally nucleated skeletal muscle fibres cerebellar vermis aplasia / hypoplasia cerebellar vermis aplasia or hypoplasia cerebral cortex with spongiform change cerebral cortex with spongiform changes cerebrospinal fluid autoimmune antibody positivity cerebrospinal fluid with increased protein chaotic rapid conjugate ocular movement chaotic rapid conjugate ocular movements chess - pawn distal phalanges chess - pawn distal phalanx chilblain - like toe lesion chilblain - like toe lesions childhood - onset truncal obesity childhood onset sensorineural hearing impairment chondroitin sulfate excretion in urine chondroitin sulphate excretion in urine chromosomal breakage induce by diepoxybutane chromosomal breakage induced by diepoxybutane chronic absent circulate total igg chronic absent circulating total igg chronic decrease circulate total igg chronic decrease ige in blood chronic decrease igg1 in blood chronic decrease igg2 in blood chronic decrease igg3 in blood chronic decrease igg4 in blood chronic decrease igm in blood chronic decreased circulating total igg chronic decreased ige in blood chronic decreased igg1 in blood chronic decreased igg2 in blood chronic decreased igg3 in blood chronic decreased igg4 in blood chronic decreased igm in blood chronic partially decrease circulating igg1 chronic partially decrease circulating igg2 chronic partially decrease circulating igg3 chronic partially decrease circulating igg4 chronic partially decreased circulating igg1 chronic partially decreased circulating igg2 chronic partially decreased circulating igg3 chronic partially decreased circulating igg4 ciliary trichomegaly of low eyelash ciliary trichomegaly of lower eyelashes ciliary trichomegaly of upper eyelash ciliary trichomegaly of upper eyelashes circulate nucleate red blood cell circulating nucleated red blood cells clear cell carcinoma of cervix clear cell renal cell carcinoma cleft alveolar process of maxilla cleft anterior mitral valve leaflet cleft hard and soft palate cleft lip , cleft palate cleft of low alveolar process cleft of low gum ridge cleft of lower alveolar process cleft of lower gum ridge cleft of mandibular alveolar process cleft of the low lip cleft of the lower lip clinodactyly of the 2nd finger clinodactyly of the 2nd toe clinodactyly of the 3rd finger clinodactyly of the 3rd toe clinodactyly of the 4th finger clinodactyly of the 4th toe clinodactyly of the 5th finger clinodactyly of the 5th toe clinodactyly of the little finger clonal t cell receptor rearrangement club - shape proximal femur club - shaped distal femora club - shaped distal femur club - shaped proximal femur club foot on both side club foot on both sides clubbing of finger and toe clubbing of fingers and toes coat hanger sign of rib coat hanger sign of ribs cold - induced hand cramp cold - induced hand cramps cold - induced muscle cramp cold - induced muscle cramps collagenization of the urinary space collapse of glomerular capillary wall collapse of glomerular capillary walls coloboma of the upper eyelid color vision defect , severe colour vision defect , severe comma - shape carpal bone comma - shaped carpal bones comma - shaped wrist bone comma - shaped wrist bones complete agenesis of all teeth complete congenital stationary night blindness complete diaphragmatic absence of pericardium complete duplication of hallux phalanx complete duplication of hand bone complete duplication of hand bones complete duplication of thumb bone complete duplication of thumb bones complete duplication of thumb phalanx compound motor action potential abnormality compression - fracture lumbar vertebra compression - fracture thoracic vertebra compression - fractured cervical vertebra compression - fractured lumbar vertebra compression - fractured thoracic vertebra concentric narrowing of visual field conductive hearing loss , mild conductive hearing loss , moderate conductive hearing loss , severe cone - rod retinal dystrophy cone - shape metacarpal epiphysis cone - shaped metacarpal epiphyses cone - shaped phalangeal epiphyses cone - shaped phalangeal epiphysis cone - shaped thumb epiphyses cone - shaped thumb epiphysis cone shape front baby tooth cone shape low front tooth cone shape upper front tooth cone shape upper lateral incisor cone shaped front baby tooth cone shaped lower front tooth cone shaped upper front tooth cone shaped upper lateral incisors confetti - like hypopigmented macule confetti - like hypopigmented macules congenital absence of external ear congenital absence of gluteal muscle congenital absence of gluteal muscles congenital absence of portal vein congenital absence of the pericardium congenital absence of the vagina congenital anterior abdominal wall defect congenital defect of the pericardium congenital dislocation of the hip congenital dislocation of the hips congenital fibrosis of extraocular muscle congenital fibrosis of extraocular muscles congenital hypertrophy of left ventricle congenital localise absence of skin congenital localised absence of skin congenital localize absence of skin congenital localized absence of skin congenital non - bullous ichthyosis congenital pseudoarthrosis of the clavicle congenital retinal non - attachment constriction of peripheral visual field contracture of the achilles tendon contracture of the foot joint contracture of the large joint contractures of the achilles tendon contractures of the foot joints contractures of the large joints coombs - positive hemolytic anaemia coombs - positive hemolytic anemia corner fragment of ulnar metaphysis corner fragments of ulnar metaphysis corner of eye widely separate corners of eye widely separated coronary - pulmonary artery fistula coronary sinus atrial septal defect corpus callosum agenesis , partial cortical / cerebral visual impairment cortical irregularity of humeral diaphysis cortical peritubular capillary intraluminal thrombi cortical peritubular capillary intraluminal thrombus cortical radial artery intraluminal thrombi cortical radial artery intraluminal thrombus cortical radial artery leukocyte hypercellularity cortical radial artery lymphocyte hypercellularity cortical radial artery medial atrophy cortical radial artery medial hypertrophy cortical radial artery neutrophil hypercellularity cortical thickening of hand bone cortical thickening of hand bones cortical thickening of humeral diaphysis cortical thinning of foot bone cortical thinning of foot bones cortical thinning of hand bone cortical thinning of hand bones cortically dense long tubular bone cortically dense long tubular bones corticotropin - secrete pituitary adenoma corticotropin - secreting pituitary adenoma criss - cross atrioventricular valve criss - cross atrioventricular valves cuboid - shaped vertebral bodies cuboid - shaped vertebral body cupid 's bow , accentuate cupid 's bow , accentuated cupped metaphyses of hand bone cupped metaphyses of hand bones cupped metaphysis of hand bone cupped metaphysis of hand bones curvature of the little toe curvature of the pinkie toe curvature of the pinky toe curve bone of 3rd toe curve bone of 4th toe curve bone of big toe curve bone of middle finger curve bones of big toe curve innermost little toe bone curve innermost pinkie toe bone curve innermost pinky toe bone curve innermost ring finger bone curve middle ring finger bone curve outermost little finger bone curve outermost pinkie finger bone curve outermost pinky finger bone curve outermost ring finger bone curve phalanx of the hallux curve phalanx of the hand curve phalanx of the thumb curve phalanx of the toe curve thumb deviate towards palm curved bones of 3rd toe curved bones of 4th toe curved bones of middle finger curved innermost little toe bone curved innermost pinkie toe bone curved innermost pinky toe bone curved innermost ring finger bone curved middle ring finger bone curved outermost little finger bone curved outermost pinkie finger bone curved outermost pinky finger bone curved outermost ring finger bone curved phalanges of the hallux curved phalanges of the hand curved phalanges of the thumb curved phalanges of the toes curved thumb deviated towards palm curving of inner forearm bone cutaneous hyperpigmentation with overlie hypertrichosis cutaneous hyperpigmentation with overlying hypertrichosis cutaneous t - cell lymphoma cyst of the ductus choledochus cyst of the pituitary gland cystic abnormalities of the ovaries cystic abnormality of the ovary cystic hygroma of the neck cystic lesion of the pinna cystic lesions of the pinnae cystic pattern on pulmonary hrct cystitis of the urinary bladder dagger - shaped pulp calcification dagger - shaped pulp calcifications dark circle around the eye dark circle under the eye dark circles around the eyes dark circles under the eyes deafness , sensorineural , prelingual decline in physical functional health decrease / absent ankle reflex decrease 25 - hydroxyvitamin d3 decrease acrosin in sperm head decrease adipose tissue around neck decrease adipose tissue tocopherol level decrease antibody level in blood decrease apo - ai level decrease apoa - i level decrease arden ratio of electrooculogram decrease arden ratio of eog decrease beta - galactosidase activity decrease beta - glucocerebrosidase level decrease blood concentration of leucine decrease blood heparan sulfate concentration decrease blood heparan sulphate concentration decrease bone formation of skull decrease carnitine level in liver decrease carpal angle of wrist decrease cd4 : cd8 ratio decrease cerebrospinal fluid total protein decrease circulate 12 - hete decrease circulate apolipoprotein ai concentration decrease circulate fetuin a concentration decrease circulate free t4 level decrease circulate heparan sulfate level decrease circulate heparan sulphate level decrease circulate igg subclass level decrease circulate lipoprotein lipase concentration decrease circulate luteinising hormone level decrease circulate luteinizing hormone level decrease circulate parathyroid hormone level decrease csf 5 - hiaa decrease depth of eye socket decrease distance between eye socket decrease fasl - mediate apoptosis decrease fef25 - 75 % decrease function of male gonad decrease g6pd level in blood decrease g6pd level in leukocyte decrease g6pd level in rbc decrease g6pd level in tissue decrease gamma - globin expression decrease glucose phosphate isomerase activity decrease hair growth on body decrease helper t cell proportion decrease horizontal dimension of face decrease horizontal dimension of philtrum decrease hydroxyproline in the blood decrease igg level in blood decrease igg1 level in blood decrease igg2 level in blood decrease igg3 level in blood decrease igg4 level in blood decrease in hmw vwf multimers decrease in t cell count decrease in t cell number decrease low limb vibratory sense decrease lumbar vertebra interpediculate distance decrease lysosomal acid glucosylceramidase activity decrease mean corpuscular haemoglobin concentration decrease mean corpuscular hb concentration decrease mean corpuscular hemoglobin concentration decrease methylmalonyl coa mutase activity decrease motor nerve conduction velocity decrease or absent ankle reflex decrease platelet thromboxane a2 receptor decrease postbronchodilator force vital capacity decrease prebronchodilator force vital capacity decrease protein level in blood decrease red blood cell count decrease renal tubular phosphate excretion decrease renal tubular phosphate reabsorption decrease rv / tlc ratio decrease serum complement c3 level decrease serum complement c4 level decrease serum complement factor b decrease serum complement factor h decrease serum complement factor i decrease serum parathyroid hormone level decrease serum terminal complement component decrease specific antibody in blood decrease specific pneumococcal antibody level decrease succinic semialdehyde dehydrogenase level decrease t - antigen concentration decrease t - cell activation decrease t - lymphocyte activation decrease t3 / t4 ratio decrease total hemolytic complement activity decrease total iga in blood decrease total iron binding capacity decrease touch sensation in extremity decrease urinary 1 - methylhistidine decrease urinary 2 - oxoglutarate decrease urinary 3 - methylhistidine decrease vibration sense at ankle decrease vibration sense in foot decrease visual acuity , nonprogressive decrease visual acuity , progressive decrease von willebrand factor activity decrease waist - hip ratio decrease waist to hip ratio decrease width of all teeth decrease width of baby teeth decrease width of deciduous teeth decrease width of milk teeth decrease width of nasal base decrease width of nasal dorsum decrease width of nasal ridge decrease width of nasal septum decrease width of palpebral fissure decrease width of primary tooth decrease width of the forehead decrease width of the skull decreased / absent ankle reflexes decreased 25 - hydroxyvitamin d3 decreased acrosin in sperm head decreased activity of methionine synthase decreased activity of nadph oxidase decreased adipose tissue around neck decreased adipose tissue tocopherol level decreased amount of facial fat decreased antibody level in blood decreased apo - ai level decreased apoa - i level decreased arden ratio of electrooculogram decreased arden ratio of eog decreased beta - galactosidase activity decreased beta - glucocerebrosidase level decreased blood concentration of leucine decreased blood heparan sulfate concentration decreased blood heparan sulphate concentration decreased bone formation of skull decreased carnitine level in liver decreased carpal angles of wrist decreased cd4 : cd8 ratio decreased cerebrospinal fluid total protein decreased circulating 12 - hete decreased circulating apolipoprotein ai concentration decreased circulating fetuin a concentration decreased circulating free t4 level decreased circulating heparan sulfate level decreased circulating heparan sulphate level decreased circulating igg subclass level decreased circulating lipoprotein lipase concentration decreased circulating luteinising hormone level decreased circulating luteinizing hormone level decreased circulating parathyroid hormone level decreased csf 5 - hiaa decreased depth of eye sockets decreased distance between eye sockets decreased fasl - mediated apoptosis decreased fef25 - 75 % decreased function of male gonad decreased g6pd level in blood decreased g6pd level in leukocytes decreased g6pd level in rbcs decreased g6pd level in tissue decreased gamma - globin expression decreased glucose phosphate isomerase activity decreased growth of paranasal sinus decreased hair growth on body decreased height of mandibular ramus decreased height of palpebral fissure decreased height of upper lip decreased helper t cell proportion decreased horizontal dimension of face decreased horizontal dimension of philtrum decreased hydroxyproline in the blood decreased igg level in blood decreased igg1 level in blood decreased igg2 level in blood decreased igg3 level in blood decreased igg4 level in blood decreased length of dental root decreased length of dental roots decreased length of hard palate decreased length of low eyelash decreased length of lower eyelashes decreased length of nasal bridge decreased length of nasal septum decreased length of tooth root decreased length of tooth roots decreased length of upper eyelash decreased length of upper eyelashes decreased lower limb vibratory sense decreased lysosomal acid glucosylceramidase activity decreased mean corpuscular haemoglobin concentration decreased mean corpuscular hb concentration decreased mean corpuscular hemoglobin concentration decreased methylmalonyl coa mutase activity decreased motor nerve conduction velocities decreased motor nerve conduction velocity decreased muscle tone in infant decreased number of baby teeth decreased number of deciduous teeth decreased number of milk teeth decreased number of primary teeth decreased number of scalp follicle decreased number of scalp follicles decreased number of sweat gland decreased number of sweat glands decreased or absent ankle reflexes decreased platelet thromboxane a2 receptor decreased pneumatization of frontal sinus decreased pneumatization of paranasal sinus decreased postbronchodilator forced vital capacity decreased prebronchodilator forced vital capacity decreased projection of low jaw decreased projection of lower jaw decreased projection of upper jaw decreased proportion of cd19+cd38+igm+ cell decreased proportion of cd19+cd38+igm+ cells decreased proportion of cd4+ cell decreased proportion of cd4+ cells decreased proportion of cd4+cd29+ cell decreased proportion of cd4+cd29+ cells decreased proportion of cd4+cd45ra+ cell decreased proportion of cd4+cd45ra+ cells decreased protein levels in blood decreased red blood cell count decreased renal tubular phosphate excretion decreased renal tubular phosphate reabsorption decreased rv / tlc ratio decreased sensory nerve conduction velocities decreased sensory nerve conduction velocity decreased serum complement c3 level decreased serum complement c4 level decreased serum complement factor b decreased serum complement factor h decreased serum complement factor i decreased serum parathyroid hormone level decreased serum terminal complement component decreased size of all teeth decreased size of alveolar ridge decreased size of baby teeth decreased size of deciduous teeth decreased size of facial bone decreased size of facial bones decreased size of facial muscle decreased size of facial muscles decreased size of facial skeleton decreased size of low eyelid decreased size of low jaw decreased size of lower eyelid decreased size of lower jaw decreased size of malar bone decreased size of mandibular condyle decreased size of mandibular ramus decreased size of milk teeth decreased size of nasal ala decreased size of nasal alae decreased size of nasal bone decreased size of nasal bridge decreased size of nasal septum decreased size of nasal tip decreased size of nasopharyngeal adenoid decreased size of nasopharyngeal adenoids decreased size of neck muscle decreased size of nerve terminal decreased size of nerve terminals decreased size of palpebral fissure decreased size of paranasal sinus decreased size of primary teeth decreased size of primary tooth decreased size of the clitoris decreased size of tooth bud decreased size of tooth germ decreased size of upper eyelid decreased size of upper jaw decreased size of zygomatic bone decreased space in hinge joint decreased specific antibody in blood decreased specific pneumococcal antibody level decreased strength of facial muscle decreased strength of facial muscles decreased succinic semialdehyde dehydrogenase level decreased t - antigen concentration decreased t - cell activation decreased t - lymphocyte activation decreased t3 / t4 ratio decreased total hemolytic complement activity decreased total iga in blood decreased total iron binding capacity decreased touch sensation in extremities decreased transverse dimension of face decreased transverse dimension of maxilla decreased transverse dimension of palate decreased transverse dimension of philtrum decreased urinary 1 - methylhistidine decreased urinary 2 - oxoglutarate decreased urinary 3 - methylhistidine decreased vertical dimension of face decreased vertical dimension of philtrum decreased vibration sense at ankles decreased vibration sense in feet decreased visual acuity , nonprogressive decreased visual acuity , progressive decreased volume of cerebral cortex decreased volume of frontal sinus decreased volume of frontal sinuses decreased volume of lip vermillion decreased volume of low lip decreased volume of lower lip decreased volume of paranasal sinus decreased volume of upper lip decreased von willebrand factor activity decreased waist - hip ratio decreased waist to hip ratio decreased width of all teeth decreased width of baby teeth decreased width of deciduous teeth decreased width of milk teeth decreased width of nasal base decreased width of nasal dorsum decreased width of nasal ridge decreased width of nasal septum decreased width of palpebral fissure decreased width of primary tooth decreased width of the forehead decreased width of the skull decreasing lumbar vertebrae interpediculate distance deep antegonial notch of mandible deep cerebral white matter hyperintensities deep cerebral white matter hypodensities deep dermal perivascular inflammatory infiltrate defect in the atrial septum deficiency of anterior nasal spine deficiency of delayed skin hypersensitivity deficiency of internal carotid artery deficiency of upper jaw bone deficiency of upper jaw bones deficiency of zygomaticomaxillary bone complex deficient area between the eyebrow deficient area between the eyebrows deficient maturation of hand bone deficient maturation of hand bones deficient n - acetylglucosaminyltransferase ii deficient ossification of hand bone deficient ossification of hand bones deflation of the glomerular tuft deformity of base of nose deformity of cartilage of nose deformity of facial adipose tissue deformity of facial soft tissue deformity of the ethmoid bone deformity of the external nose deformity of the facial bone deformity of the facial bones deformity of the frontal bone deformity of the jaw joint deformity of the lacrimal bone deformity of the low lip deformity of the lower lip deformity of the malar arch deformity of the malar bone deformity of the malar bones deformity of the nasal ala deformity of the nasal bone deformity of the nasal bones deformity of the nasal bridge deformity of the nasal dorsum deformity of the nasal ridge deformity of the nasal skeleton deformity of the nasal tip deformity of the nasolabial region deformity of the palatine bone deformity of the palpebral fissure deformity of the palpebral fissures deformity of the periauricular region deformity of the periorbital region deformity of the supraorbital margin deformity of the supraorbital margins deformity of the supraorbital ridge deformity of the supraorbital ridges deformity of the temporomandibular joint deformity of the upper lip deformity of the zygomatic arch deformity of the zygomatic bone deformity of tip of nose degeneration of anterior horn cell degeneration of anterior horn cells degeneration of lateral corticospinal tract degeneration of lateral corticospinal tracts degeneration of small hand muscle degeneration of small hand muscles degeneration of the spinal cord degeneration of the spinocerebellar tract degeneration of the spinocerebellar tracts delay ability to roll over delay bone age before puberty delay canalization of nasolacrimal duct delay coalescence of bipartite calcaneus delay eruption of adult teeth delay eruption of baby teeth delay eruption of deciduous teeth delay eruption of milk teeth delay eruption of permanent teeth delay eruption of primary teeth delay eruption of secondary dentition delay eruption of secondary teeth delay fusion of bipartite calcaneus delay maturation fo pubic bone delay maturation of carpal bone delay maturation of the scaphoid delay maturation of the trapezium delay maturation of wrist bone delay mineralization of pubic bone delay opacification of the epiphysis delay ossification of carpal bone delay ossification of pubic ramus delay ossification of the sacrum delay ossification of the scaphoid delay ossification of the trapezium delay ossification of vertebral epiphysis delay ossification proximal femoral epiphysis delay phalangeal epiphyseal bone maturation delay proximal femoral epiphyseal ossification delay separation of umbilical cord delay speech and language development delay upper limb epiphyseal ossification delayed ability to roll over delayed bone age before puberty delayed canalization of nasolacrimal duct delayed closure of anterior fontanelle delayed closure of the fontanelle delayed closure of the fontanelles delayed coalescence of bipartite calcanei delayed eruption of adult teeth delayed eruption of baby teeth delayed eruption of deciduous teeth delayed eruption of milk teeth delayed eruption of permanent teeth delayed eruption of primary teeth delayed eruption of secondary dentition delayed eruption of secondary teeth delayed fusion of bipartite calcanei delayed loss of baby teeth delayed loss of deciduous teeth delayed loss of primary teeth delayed maturation fo pubic bone delayed maturation of carpal bones delayed maturation of the scaphoid delayed maturation of the trapezium delayed maturation of wrist bone delayed mineralization of pubic bone delayed opacification of the epiphyses delayed ossification of carpal bones delayed ossification of pubic rami delayed ossification of the sacrum delayed ossification of the scaphoid delayed ossification of the trapezium delayed ossification of vertebral epiphysis delayed ossification proximal femoral epiphyses delayed phalangeal epiphyseal bone maturation delayed proximal femoral epiphyseal ossification delayed separation of umbilical cord delayed speech and language development delayed start of first period delayed upper limb epiphyseal ossification demyelination in central white matter dense bone of skull base dentinogenesis imperfecta of baby teeth depigmentation / hyperpigmentation of skin depletion of large myelinated fiber depletion of large myelinated fibers depletion of large myelinated fibre depletion of large myelinated fibres depress nasal root / bridge depressed nasal root / bridge depression of frontal cranial suture depression of metopic cranial suture derangement of the temporomandibular joint dermatan sulfate excretion in urine dermatan sulphate excretion in urine dermatological manifestation of systemic disorder dermatological manifestations of systemic disorders detachment of visceral epithelial cell detachment of visceral epithelial cells developmental delay , gross motor developmental delay in early childhood deviation of the 2nd finger deviation of the 2nd toe deviation of the 3rd finger deviation of the 3rd toe deviation of the 4th finger deviation of the 4th toe deviation of the 5th finger deviation of the 5th toe deviation of the low jaw deviation of the lower jaw deviation of the ring finger deviation of the upper jaw dexamethasone - suppressible primary hyperaldosteronism dextrotransposition of the great arteries dextrotransposition of the great artery diaphyseal bowing of long bone diaphyseal bowing of long bones diastasis of the central incisor diastasis of the central incisors diastema between maxillary central incisor diastema between maxillary central incisors diastema between upper front teeth difficulty get a full erection difficulty getting a full erection difficulty stay or fall asleep difficulty staying or falling asleep diffusely thicken glomerular basement membrane diffusely thickened glomerular basement membrane digital fibrous tumor of reye digital fibrous tumour of reye dilatation of a bronchial artery dilatation of an abdominal artery dilatation of inferior mesenteric artery dilatation of intrahepatic biliary duct dilatation of intrahepatic biliary ducts dilatation of large choroidal vessel dilatation of large choroidal vessels dilatation of lateral cerebral ventricle dilatation of lateral cerebral ventricles dilatation of superior mesenteric artery dilatation of the abdominal aorta dilatation of the aortic arch dilatation of the cerebral artery dilatation of the ductus arteriosus dilatation of the mitral annulus dilatation of the renal pelvis dilatation of the thoracic aorta dilatation of the tricuspid annulus dilatation of the ventricular cavity dilate virchow - robin space dilated virchow - robin spaces diminish or absent tendon reflex diminished or absent tendon reflexes disc - like vertebral bodies disc - like vertebral body discontinuous ascend root of helix discontinuous ascending root of helix disease of the heart muscle dislocate elbow on both side dislocate head of thigh bone dislocated elbows on both sides dislocated head of thigh bone dislocation of the femoral head dislocation of the radial head disorder of involuntary muscle movement disorder of involuntary muscle movements displacement of the 2nd toe displacement of the 3rd toe displacement of the 4th toe displacement of the 5th toe displacement of the little toe displacement of the papillary muscle displacement of the papillary muscles displacement of the pinkie toe displacement of the pinky toe displacement of the urethral meatus disproportionate short - trunked dwarfism disproportionate shortening of the shankbone disproportionate shortening of the shinbone disproportionate shortening of the tibia distal finger flexion crease absent distal finger flexion creases absent distal low limb muscle weakness distal lower limb muscle weakness distal sensory loss of proprioception distal upper limb muscle atrophy distal upper limb muscle hypertrophy distal upper limb muscle weakness distortion of the nasal skeleton distortion of the nasal tip diverticulum of the coronary sinus dminished respiratory ciliary beat frequency doll - like facial appearance dorv with doubly commit vsd dorv with doubly committed vsd double - outlet right ventricle doubly commit ventricular septal defect doubly committed ventricular septal defect down - slant palpebral fissure down - slanted palpebral fissure down - slanted palpebral fissures down - slanting palpebral fissure down - slanting palpebral fissures downturned corner of the mouth downturned corners of the mouth downward - slant palpebral fissure downward - slanting palpebral fissures drooping of both upper eyelid drooping of both upper eyelids dropping of one upper eyelid drug - sensitive hemolytic anaemia drug - sensitive hemolytic anemia dull burning sensation with urination dumbbell - shape long bone dumbbell - shaped long bone duplicate terminal phalanx of thumb duplicated terminal phalanx of thumb duplication of 3rd toe bone duplication of 4th toe bone duplication of big toe bone duplication of distal thumb phalanx duplication of innermost toe bone duplication of innermost toe bones duplication of middle finger bone duplication of phalanx of hallux duplication of phalanx of hand duplication of phalanx of thumb duplication of phalanx of toe duplication of terminal thumb phalanx duplication of the 1st metacarpal duplication of the 1st metatarsal duplication of the sella turcica duplication of the upper lip dwarfism , short - limbed dwarfism , short limb mesomelic dyschromatopsia , blue - yellow dysfunction of lateral corticospinal tract dysfunction of lateral corticospinal tracts dysgenesis of the basal ganglia dysgenesis of the basal ganglion dysgenesis of the cerebellar vermis dysgyria with normal cortical thickness dysplasia of second lumbar vertebra dysplasia of the femoral head dysplastic gangliocytoma of the cerebellum dysplastic or absent corpus callosum e coli infection , recurrent e coli infections , recurrent ear , grade ii dysplasia ear , posterior helical groove ear , posterior helical notch early and severe mental retardation early closure of the fontanelle early closure of the fontanelles early eruption of adult teeth early eruption of permanent teeth early fusion of cranial suture early fusion of cranial sutures early loss of adult teeth early loss of baby teeth early loss of deciduous teeth early loss of permanent teeth early loss of primary teeth early loss of secondary dentition early onset of sexual maturation early onset petit mal seizure early onset petit mal seizures early severe fetal akinesia sequence early severe foetal akinesia sequence easily subluxate first metacarpophalangeal joint easily subluxated first metacarpophalangeal joints eburnated epiphyses of distal phalanges eburnated epiphysis of distal phalanx echo another person 's speech echoing another person 's speech ectopic ossification in ligament tissue ectopic ossification in muscle tissue ectopic ossification in tendon tissue edema of dorsum of feet edema of dorsum of foot edema of dorsum of hand edema of dorsum of hands edema of the basal ganglia edema of the basal ganglion edema of the low limb edema of the lower limbs edema of the upper limb edema of the upper limbs eeg : focal slow activity eeg : generalised slow activity eeg : generalized slow activity eeg : localised slow activity eeg : localized slow activity eeg with abnormally slow frequencies eeg with abnormally slow frequency eeg with central epileptiform discharge eeg with central epileptiform discharges eeg with central focal spike eeg with central focal spikes eeg with central sharp wave eeg with central sharp waves eeg with centrotemporal epileptiform discharge eeg with centrotemporal epileptiform discharges eeg with change in voltage eeg with changes in voltage eeg with continuous slow activity eeg with focal epileptiform discharge eeg with focal epileptiform discharges eeg with focal sharp wave eeg with focal sharp waves eeg with focal slow activity eeg with focal spike wave eeg with focal spike waves eeg with frontal epileptiform discharge eeg with frontal epileptiform discharges eeg with frontal focal spike eeg with frontal focal spikes eeg with frontal sharp wave eeg with frontal sharp waves eeg with generalised epileptiform discharge eeg with generalised epileptiform discharges eeg with generalised slow activity eeg with generalized epileptiform discharge eeg with generalized epileptiform discharges eeg with generalized slow activity eeg with intermittent slow activity eeg with multifocal slow activity eeg with occipital epileptiform discharge eeg with occipital epileptiform discharges eeg with occipital focal spike eeg with occipital focal spikes eeg with occipital sharp wave eeg with occipital sharp waves eeg with parietal epileptiform discharge eeg with parietal epileptiform discharges eeg with parietal focal spike eeg with parietal focal spikes eeg with parietal sharp wave eeg with parietal sharp waves eeg with polyspike wave complex eeg with polyspike wave complexes eeg with temporal epileptiform discharge eeg with temporal epileptiform discharges eeg with temporal focal spike eeg with temporal focal spikes eeg with temporal sharp wave eeg with temporal sharp waves elevate alp of bone origin elevate alp of hepatic origin elevate alp of renal origin elevate apo - aii level elevate apoa - ii level elevate blood parathyroid hormone level elevate carcinoma antigen 125 level elevate circulate 17 - hydroxyprogesterone elevate circulate 17 - ohp elevate circulate acetoacetic acid concentration elevate circulate aconitic acid concentration elevate circulate alanine aminotransferase concentration elevate circulate alkaline phosphatase concentration elevate circulate apolipoprotein b concentration elevate circulate aspartate aminotransferase concentration elevate circulate creatine kinase concentration elevate circulate e selectin level elevate circulate glutaric acid concentration elevate circulate growth hormone concentration elevate circulate homovanillic acid concentration elevate circulate hydroxybutyric acid concentration elevate circulate hydroxyphenlyllactic acid concentration elevate circulate ketone body concentration elevate circulate luteinizing hormone level elevate circulate methylmalonic acid concentration elevate circulate methylsuccinic acid concentration elevate circulate parathyroid hormone level elevate circulate sebacic acid concentration elevate circulate soluble cd25 concentration elevate circulate suberic acid concentration elevate circulate vitamin b6 level elevate coagulation factor v activity elevate creatine kinase after exercise elevate creatine phosphokinase after exercise elevate csf chitotriosidase 1 level elevate csf neurofilamant light chain elevate cup to disc ratio elevate fibrin degradation fragment concentration elevate follicle - stimulating hormone elevate gamma - glutamyltransferase level elevate gastrin in the blood elevate helper t cell proportion elevate lactate : pyruvate ratio elevate long chain fatty acid elevate mhc ii surface expression elevate plasma decenoylcarnitine , c10:1 elevate plasma dodecanoylcarnitine , c12:0 elevate plasma follicle stimulate hormone elevate plasma hexanoylcarnitine , c6:0 elevate plasma linoleylcarnitine , c18:2 elevate plasma octenoylcarnitine , c8:1 elevate plasma oleylcarnitine , c18:1 elevate plasma palmitoleylcarnitine , c16:1 elevate plasma propionylcarnitine , c3:0 elevate right ventricular systolic pressure elevate rv / tlc ratio elevate serum 11 - deoxycortisol elevate serum 21 - hydroxyprogesterone elevate serum glutamic oxaloacetic transaminase elevate serum parathyroid hormone level elevate serum transaminase during infection elevate terminal : vellus ratio elevate thyroid stimulate hormone level elevate urinary 2 - methylbutyrylglycine elevate urinary 2 - oxoglutarate elevate urinary collagen degradation product elevate urinary dicarboxylic acid level elevate urinary monocarboxylic acid level elevate urinary n - butyrylglycine elevate urine 5 - oxoproline elevate urine acetoacetic acid level elevate urine aconitic acid level elevate urine keto acid level elevate urine octanedioic acid level elevate urine suberic acid level elevated alp of bone origin elevated alp of hepatic origin elevated alp of renal origin elevated apo - aii level elevated apoa - ii level elevated blood parathyroid hormone level elevated carcinoma antigen 125 level elevated circulating 17 - hydroxyprogesterone elevated circulating 17 - ohp elevated circulating acetoacetic acid concentration elevated circulating aconitic acid concentration elevated circulating alanine aminotransferase concentration elevated circulating alkaline phosphatase concentration elevated circulating apolipoprotein b concentration elevated circulating aspartate aminotransferase concentration elevated circulating creatine kinase concentration elevated circulating e selectin level elevated circulating glutaric acid concentration elevated circulating growth hormone concentration elevated circulating homovanillic acid concentration elevated circulating hydroxybutyric acid concentration elevated circulating hydroxyphenlyllactic acid concentration elevated circulating ketone body concentration elevated circulating luteinizing hormone level elevated circulating methylmalonic acid concentration elevated circulating methylsuccinic acid concentration elevated circulating parathyroid hormone level elevated circulating sebacic acid concentration elevated circulating soluble cd25 concentration elevated circulating suberic acid concentration elevated circulating vitamin b6 level elevated coagulation factor v activity elevated creatine kinase after exercise elevated creatine phosphokinase after exercise elevated csf chitotriosidase 1 level elevated csf neurofilamant light chain elevated cup to disc ratio elevated fibrin degradation fragment concentration elevated follicle - stimulating hormone elevated gamma - glutamyltransferase level elevated gastrin in the blood elevated helper t cell proportion elevated lactate : pyruvate ratio elevated level of phytanic acid elevated levels of phytanic acid elevated long chain fatty acids elevated mhc ii surface expression elevated plasma decenoylcarnitine , c10:1 elevated plasma dodecanoylcarnitine , c12:0 elevated plasma follicle stimulating hormone elevated plasma hexanoylcarnitine , c6:0 elevated plasma linoleylcarnitine , c18:2 elevated plasma octenoylcarnitine , c8:1 elevated plasma oleylcarnitine , c18:1 elevated plasma palmitoleylcarnitine , c16:1 elevated plasma propionylcarnitine , c3:0 elevated right ventricular systolic pressure elevated rv / tlc ratio elevated serum 11 - deoxycortisol elevated serum 21 - hydroxyprogesterone elevated serum glutamic oxaloacetic transaminase elevated serum parathyroid hormone level elevated serum transaminases during infections elevated terminal : vellus ratio elevated thyroid stimulating hormone levels elevated urinary 2 - methylbutyrylglycine elevated urinary 2 - oxoglutarate elevated urinary collagen degradation products elevated urinary dicarboxylic acid level elevated urinary monocarboxylic acid level elevated urinary n - butyrylglycine elevated urine 5 - oxoproline elevated urine acetoacetic acid level elevated urine aconitic acid level elevated urine keto acid level elevated urine octanedioic acid level elevated urine suberic acid level elf - like facial appearance elf - like facial feature elf - like facial features elongate long bone of hand elongated long bone of hand emg : chronic denervation sign emg : chronic denervation signs emg : impaired neuromuscular transmission emg : positive sharp wave emg : positive sharp waves emg : slow motor conduction enamel with tendency to chip encysted hydrocele of the cord end - stage renal disease end - stage renal failure endoarterial hypercellularity within arcuate artery endoarterial hypercellularity within interlobular artery endocrine - type tubular atrophy endocrinization pattern of tubular atrophy enhance ristocetin cofactor assay activity enhanced ristocetin cofactor assay activity enlarge and thicken heart muscle enlarge colon lack nerve cell enlarge flash visual evoke potential enlarge inferior vena cava valve enlarge lysosomal vacuole in lymphocyte enlarge thyroid gland in neck enlarged and thickened heart muscle enlarged colon lacking nerve cells enlarged epiphyses of the fingers enlarged epiphyses of the hallux enlarged epiphyses of the thumb enlarged epiphyses of the toes enlarged epiphysis of the finger enlarged epiphysis of the hallux enlarged epiphysis of the thumb enlarged epiphysis of the toe enlarged flash visual evoked potentials enlarged inferior vena cava valve enlarged lysosomal vacuoles in lymphocytes enlarged thyroid gland in neck enlargement of half of face enlargement of the costochondral junction enlargement of the vaginal lip enlargement of the vaginal lips enlargment of the facial bone enlargment of the facial bones enteric intraneuronal nuclear inclusion bodies enteric intraneuronal nuclear inclusion body entrapment neuropathy of suprascapular nerve eosinophilic infiltration in the colon eosinophilic infiltration of skeletal muscle eosinophilic infiltration of the esophagus eosinophilic infiltration of the oesophagus epilepsia partialis continua of kojevnikov epilepsia partialis continuum of kojevnikov epiphyseal deformities of tubular bones epiphyseal deformity of tubular bone epiphyseal stippling of finger phalanges epiphyseal stippling of finger phalanx epiphyseal stippling of the humerus epiphyseal stippling of the metacarpal epiphyseal stippling of the metacarpals epiphyseal stippling of toe phalanges epiphyseal stippling of toe phalanx epstein - barr virus encephalitis epstein - barr virus meningitis equinus deformity of the calcaneus excess skin over the neck excessive bleeding after a venipuncture excessive bleeding after minor trauma excessive bleeding from superficial cut excessive bleeding from superficial cuts excessive growth of calvarial bone excessive growth of calvarial bones excessive growth of craniofacial bone excessive growth of craniofacial bones excessive growth of facial bone excessive growth of facial bones excessive growth of facial skeleton excessive growth of mandibular bone excessive growth of skull bone excessive growth of skull bones excessive wrinkling of palmar skin exercise - induced lactic acidemia exercise - induced lactic acidosis exercise - induced leg cramp exercise - induced leg cramps exercise - induced muscle cramp exercise - induced muscle cramping exercise - induced muscle cramps exercise - induced muscle fatigue exercise - induced muscle pain exercise - induced muscle stiffness exostoses of the forearm bones exostoses of the radial metaphysis exostosis of the forearm bone exostosis of the radial metaphysis externally rotate / abduct leg externally rotated / abducted legs extra - axial csf accumulation extra bone within cranial suture extra bones within cranial sutures extra long bone of hand extra long bones of hand extra tooth in the midline extracranial internal carotid artery dissection extremely elevated serum ck level eye movement - induced pain eyelid stay open at night eyelids stay open at night facial flushing after alcohol intake factor xiii subunit a deficiency factor xiii subunit b deficiency failure of development of bicuspid failure of development of canine failure of development of eyeball failure of development of eyebrow failure of development of eyebrows failure of development of eyelash failure of development of eyelashes failure of development of eyelid failure of development of incisor failure of development of mandible failure of development of mastoid failure of development of maxilla failure of development of molar failure of development of nose failure of development of premaxilla failure of development of premolar failure of development of tongue failure of eruption of tooth failure of zygotic cell division failure to exfoliate deciduous teeth failure to exfoliate primary teeth failure to lose baby teeth failure to thrive in infancy familial primary hyperaldosteronism type 1 familial primary hyperaldosteronism type 2 fat accumulation in muscle fiber fat accumulation in muscle fibers fat accumulation in muscle fibre fat accumulation in muscle fibres fat deposit in muscle fiber fat deposit in muscle fibre fat deposits in muscle fibers fat deposits in muscle fibres fatal liver failure in infancy fatigable weakness of bulbar muscle fatigable weakness of bulbar muscles fatigable weakness of chew muscle fatigable weakness of chewing muscles fatigable weakness of limb muscle fatigable weakness of limb muscles fatigable weakness of neck muscle fatigable weakness of neck muscles fatigable weakness of respiratory muscle fatigable weakness of respiratory muscles fatigable weakness of skeletal muscle fatigable weakness of skeletal muscles fatigable weakness of speech muscle fatigable weakness of speech muscles fatigable weakness of swallow muscle fatigable weakness of swallowing muscles fatty infiltration of cardiac ventricle fatty replacement of skeletal muscle fatty tumor on the eyelid fatty tumors on the eyelids fatty tumour on the eyelid fatty tumours on the eyelids feel full quickly when eat feeling full quickly when eating fever - induced status epilepticus few baby teeth than normal few deciduous teeth than normal few primary teeth than normal fewer baby teeth than normal fewer deciduous teeth than normal fewer primary teeth than normal fibrous dysplasia of the bone fibrous dysplasia of the bones fifth digit distal phalangeal hypoplasia fifth finger distal phalanx clinodactyly fifth finger single interphalangeal crease fifth metacarpal with ulnar notch fine , reticulate skin pigmentation firm lump under the skin first dorsal interossei muscle atrophy first dorsal interossei muscle weakness fixation - off epileptiform discharge fixation - off epileptiform discharges flame - shape retinal haemorrhage flame - shape retinal hemorrhage flame - shaped retinal haemorrhage flame - shaped retinal hemorrhage flare , irregular rib end flare outermost metaphysis of shankbone flare outermost metaphysis of shinbone flared , irregular rib ends flared metaphysis of thigh bone flared outermost metaphysis of shankbone flared outermost metaphysis of shinbone flaring of low rib cage flaring of lower rib cage flat area between the eyebrow flat area between the eyebrows flat back of the head flat back of the skull flat end part of bone flat head of thigh bone flatten bony protrusion above eye flattened bony protrusion above eyes flattening of the skull base flattening of the talar dome flattening of the zygomatic bone flexion contracture at both knee flexion contracture of 3rd toe flexion contracture of the hallux flexion contractures at both knees flexion deformity of the knee fluid accumulation in low limb fluid accumulation in lower limbs fluid accumulation in upper limb fluid accumulation in upper limbs focal - onset epileptic spasm focal absence of scalp tissue focal and segmental glomerular sclerosis focal autonomic seizure with erection focal autonomic seizure with lacrimation focal autonomic seizure with piloerection focal aware behavior arrest seizure focal aware behaviour arrest seizure focal aware bilateral motor seizure focal aware hemifacial clonic seizure focal aware manual automatism seizure focal aware orofacial automatism seizure focal aware pedal automatism seizure focal aware perseverative automatism seizure focal aware sexual automatism seizure focal aware undress automatism seizure focal aware undressing automatism seizure focal aware verbal automatism seizure focal aware vocal automatism seizure focal cognitive seizure with anomia focal cognitive seizure with dissociation focal cognitive seizure with hallucination focal cognitive seizure with illusion focal cognitive seizure with neglect focal cortical dysplasia type i focal cortical dysplasia type ia focal cortical dysplasia type ib focal cortical dysplasia type ic focal cortical dysplasia type ii focal cortical dysplasia type iia focal cortical dysplasia type iib focal cortical dysplasia type iii focal cortical dysplasia type iiia focal cortical dysplasia type iiib focal cortical dysplasia type iiic focal cortical dysplasia type iiid focal dermal aplasia / hypoplasia focal emotional seizure with agitation focal emotional seizure with anger focal emotional seizure with cry focal emotional seizure with crying focal emotional seizure with laugh focal emotional seizure with laughing focal emotional seizure with paranoia focal emotional seizure with pleasure focal head nod automatism seizure focal head nodding automatism seizure focal impair awareness atonic seizure focal impair awareness automatism seizure focal impair awareness autonomic seizure focal impair awareness clonic seizure focal impair awareness cognitive seizure focal impair awareness emotional seizure focal impair awareness epileptic spasm focal impair awareness hemiclonic seizure focal impair awareness hyperkinetic seizure focal impair awareness motor seizure focal impair awareness myoclonic seizure focal impair awareness sensory seizure focal impair awareness tonic seizure focal impaired awareness atonic seizure focal impaired awareness automatism seizure focal impaired awareness autonomic seizure focal impaired awareness clonic seizure focal impaired awareness cognitive seizure focal impaired awareness emotional seizure focal impaired awareness epileptic spasm focal impaired awareness hemiclonic seizure focal impaired awareness hyperkinetic seizure focal impaired awareness motor seizure focal impaired awareness myoclonic seizure focal impaired awareness sensory seizure focal impaired awareness tonic seizure focal motor impair awareness seizure focal motor impaired awareness seizure focal motor seizure with dystonia focal motor seizure with version focal non - motor seizure focal seizure with cephalic sensation focal seizure with eyelid myoclonia focal seizure with retained awareness focal seizure with secondary generalisation focal seizure with secondary generalization focal seizure without motor onset focal sub - rpe deposit focal sub - rpe deposits focal substantia nigra t2 hyperintensity focal t2 hyperintense brainstem lesion focal t2 hyperintense thalamic lesion focal t2 hypointense brainstem lesion focal t2 hypointense thalamic lesion folate - responsive megaloblastic anaemia folate - responsive megaloblastic anemia folate - unresponsive megaloblastic anaemia folate - unresponsive megaloblastic anemia folate deficiency in cerebrospinal fluid forme fruste unilateral cleft lip four - vessel umbilical cord fracture distal epiphysis of radius fracture distal phalanx of manus fracture distal tarsal bone 2 fracture distal tarsal bone 3 fracture manual digit 1 phalanx fracture middle phalanx of manus fracture middle phalanx of pe fracture navicular bone of pe fracture of the long bone fracture of the low leg fracture of the lower leg fracture proximal phalanx of manus fracture skeleton of manual acropodium fracture sternal end of clavicle fractured distal epiphysis of radius fractured distal phalanx of manus fractured distal tarsal bone 2 fractured distal tarsal bone 3 fractured lateral malleolus of fibula fractured manual digit 1 phalanx fractured middle phalanx of manus fractured middle phalanx of pes fractured navicular bone of pes fractured proximal phalanx of manus fractured skeleton of manual acropodium fractured sternal end of clavicle fractures of the long bones fragmentation of the metacarpal epiphyses fragmentation of the metacarpal epiphysis fragmented end part of bone fray , irregular , metaphyses frayed , irregular , metaphyses freezing of the temporomandibular joint frequent upper respiratory tract infection frequent upper respiratory tract infections full - thickness macular hole functional abnormality of the bladder functional abnormality of the esophagus functional abnormality of the oesophagus fundus with peripheral bony spicule fundus with peripheral bony spicules fuse 4th - 5th metacarpal fuse bone of 2nd toe fuse bone of 3rd toe fuse bone of 4th toe fuse bone of the midfoot fuse fourth and fifth metacarpal fuse innermost bone of toe fuse long bone of hand fuse middle bone of toe fuse outermost bone of hand fuse outermost bone of toe fused 4th - 5th metacarpals fused bones of 2nd toe fused bones of 3rd toe fused bones of 4th toe fused bones of the midfoot fused fourth and fifth metacarpals fused innermost bones of toes fused long bones of hand fused middle bones of toes fused outermost bones of hand fused outermost bones of toes fused third and fourth metacarpal fused third and fourth metacarpals fusiform ascend tubular aorta aneurysm fusiform ascending tubular aorta aneurysm fusiform descend thoracic aortic aneurysm fusiform descending thoracic aortic aneurysm fusion of capitate and hamate fusion of hamate and capitate fusion of midcervical facet joint fusion of midcervical facet joints fusion of middle ear ossicle fusion of middle ear ossicles fusion of the alveolar ridge fusion of the alveolar ridges fusion of the cerebellar hemisphere fusion of the cerebellar hemispheres fusion of the subtalar joint gamma - a globulin deficiency gamma heavy - chain disease ganglion cyst of the wrist gap between upper front teeth gastroenteritis - relate afebrile seizure gastroenteritis - related afebrile seizure gastrojejunal tube feeding in infancy gastrostomy tube feeding in infancy gaze - evoked horizontal nystagmus general absence of subcutaneous fat generalise - onset clonic seizure generalise - onset epileptic spasm generalise - onset motor seizure generalise muscular appearance from birth generalise myoclonic - atonic seizure generalise non - motor seizure generalise osteoporosis with pathologic fracture generalised - onset clonic seizure generalised - onset epileptic spasm generalised - onset motor seizure generalised cerebral atrophy / hypoplasia generalised cerebral degeneration / underdevelopment generalised dysplasia of tooth enamel generalised hypoplasia of dental enamel generalised hypoplasia of tooth enamel generalised muscular appearance from birth generalised myoclonic - atonic seizure generalised non - motor seizure generalised opacification of the cornea generalised osteoporosis with pathologic fractures generalised sclerosis of hand bone generalised sclerosis of hand bones generalised spacing of primary teeth generalised swelling of lymph node generalised swelling of lymph nodes generalised weakness of limb muscle generalised weakness of limb muscles generalize - onset clonic seizure generalize - onset epileptic spasm generalize - onset motor seizure generalize cerebral atrophy / hypoplasia generalize cerebral degeneration / underdevelopment generalize dysplasia of tooth enamel generalize hypoplasia of dental enamel generalize hypoplasia of tooth enamel generalize muscular appearance from birth generalize myoclonic - atonic seizure generalize opacification of the cornea generalize osteoporosis with pathologic fracture generalize spacing of primary teeth generalize swelling of lymph node generalized - onset clonic seizure generalized - onset epileptic spasm generalized - onset motor seizure generalized cerebral atrophy / hypoplasia generalized cerebral degeneration / underdevelopment generalized dysplasia of tooth enamel generalized hypoplasia of dental enamel generalized hypoplasia of tooth enamel generalized muscular appearance from birth generalized myoclonic - atonic seizure generalized opacification of the cornea generalized osteoporosis with pathologic fractures generalized sclerosis of hand bone generalized sclerosis of hand bones generalized spacing of primary teeth generalized swelling of lymph nodes generalized weakness of limb muscle generalized weakness of limb muscles giant cell granuloma of mandible giant cell hepatitis on biopsy giant cell tumor of bone giant cell tumour of bone glial remnant posterior to lens glial remnants posterior to lens gliosis in the basal ganglia gliosis in the basal ganglion global developmental delay , mild global developmental delay , moderate global developmental delay , profound global developmental delay , severe glomerular basement membrane amyloid spicule glomerular basement membrane powdery deposit glomerular basement membranes powdery deposit glomerular capillary wire loop deposit glomerular capillary wire loop deposits glomerular parietal epithelial cell hyperplasia glomerular parietal epithelial cell hypertrophy glomerular visceral epithelial cell hypertrophy glucocortocoid - insensitive primary hyperaldosteronism grade i preterm intraventricular haemorrhage grade i preterm intraventricular hemorrhage grade ii preterm intraventricular haemorrhage grade ii preterm intraventricular hemorrhage grade iii preterm intraventricular haemorrhage grade iii preterm intraventricular hemorrhage grade iv preterm intraventricular haemorrhage grade iv preterm intraventricular hemorrhage grammar - specific speech disorder h - type rectovestibular fistula hair - nail ectodermal dysplasia hair grow down to cheek hair growing down to cheek halberd - shape pelvis bone halberd - shaped pelvis bone hamartoma of the orbital region hand muscle wasting , bilateral harden spot within wrist bone hardened spots within wrist bones have too much body fat having too much body fat hearing loss , congenital sensorineural hearing loss , progressive sensorineural heavy brow of the face height less than 3rd percentile helix , crus , absent helix , crus , horizontal helix , crus , prominent helix , crus , serpiginous helix , discontinuous ascend root helix , discontinuous ascending root heparan sulfate excretion in urine heparan sulphate excretion in urine hernia of the abdominal wall high - frequency hearing impairment high - grade vesicoureteral reflux high - tone sensorineural deafness high blood aspartic acid level high blood aspartic acid levels high blood carbon dioxide level high blood methylmalonic acid level high blood methylmalonic acid levels high blood uric acid level high cord blood oxygen level high flash visual evoke potential high flash visual evoked potentials high frequency sensorineural hearing impairment high level of amniotic fluid high level of ketone body high levels of amniotic fluid high levels of ketone bodies high maternal serum chorionic gonadotropin high serum 1,25 - dihydroxycholecalciferol high serum 25 - hydroxycholecalciferol high urine amino acid level high urine amino acid levels high urine lactic acid level high urine lactic acid levels high urine orotic acid level high urine orotic acid levels high urine uric acid level high urine urocanic acid level high urine urocanic acid levels hip - girdle muscle weakness hole in center of heart hole in centre of heart hole in roof of mouth horizontal inferior border of scapula hot water - induced seizure hour glass shape hypophysial fossa hour glass shape pituitary fossa hour glass shape sella turcica hour glass shaped hypophysial fossa hour glass shaped pituitary fossa hour glass shaped sella turcica hyoplasia of the leydig cell hyoplasia of the leydig cells hyperactive renin - angiotensin system hyperextensibility of the finger joint hyperextensibility of the finger joints hyperhidrosis of palm and sol hyperhidrosis of palms and soles hyperinflation on pulmonary function test hyperkeratosis of palm and sol hyperkeratosis of palms and soles hypermobility of distal interphalangeal joint hypermobility of distal interphalangeal joints hyperphalangy of the 2nd finger hyperphalangy of the 3rd finger hyperplasia of facial adipose tissue hyperplasia of the femoral trochanter hyperplasia of the femoral trochanters hyperplasia of the intermaxillary bone hyperplasia of the leydig cell hyperplasia of the leydig cells hyperplasia of tip of nose hyperplasia of visceral epithelial cell hyperplasia of visceral epithelial cells hyperplastic inferior crus of antihelix hyperplastic superior crus of antihelix hyperreflexia in the low limb hyperreflexia in the lower limbs hypertrichosis , congenital anterior cervical hypertrophic alveolar type ii cell hypertrophic alveolar type ii cells hypertrophic alveolar type ii pneumocytes hypertrophic inferior crus of antihelix hypertrophic superior crus of antihelix hypertrophy of facial adipose tissue hypertrophy of half of face hypertrophy of skin of sol hypertrophy of skin of soles hypertrophy of the facial bone hypertrophy of the facial bones hypertrophy of the low limb hypertrophy of the lower limb hypertrophy of the upper limb hypertrophy of the urinary bladder hypertrophy of tip of nose hypertrophy of visceral epithelial cell hypertrophy of visceral epithelial cells hypo - autofluorescent macular lesion hypo - autofluorescent retinal lesion hypodysplasia of the corpus callosum hypoglycosylation of alpha - dystroglycan hypokinesia of the low extremity hypokinesia of the lower extremities hypokinesia of the upper extremities hypokinesia of the upper extremity hypopigmented skin patch on arm hypopigmented skin patches on arms hypoplasia of cranial nerve viii hypoplasia of fetal nasal bone hypoplasia of foetal nasal bone hypoplasia of latissimus dorsi muscle hypoplasia of malar bone complex hypoplasia of septum of nose hypoplasia of serratus anterior muscle hypoplasia of the cerebellar vermis hypoplasia of the ciliary body hypoplasia of the corpus callosum hypoplasia of the dental root hypoplasia of the distal phalanges hypoplasia of the distal phalanx hypoplasia of the ear cartilage hypoplasia of the external ear hypoplasia of the fallopian tube hypoplasia of the femoral head hypoplasia of the femoral neck hypoplasia of the frontal bone hypoplasia of the frontal lobe hypoplasia of the frontal lobes hypoplasia of the hypothenar eminence hypoplasia of the intermaxillary bone hypoplasia of the lacrimal puncta hypoplasia of the lacrimal punctum hypoplasia of the less trochanter hypoplasia of the lesser trochanter hypoplasia of the low eyelid hypoplasia of the low limb hypoplasia of the lower eyelids hypoplasia of the lower limbs hypoplasia of the medullary pyramid hypoplasia of the medullary pyramids hypoplasia of the metatarsal bone hypoplasia of the metatarsal bones hypoplasia of the nasal bone hypoplasia of the odontoid process hypoplasia of the olfactory bulb hypoplasia of the optic tract hypoplasia of the pituitary gland hypoplasia of the primary teeth hypoplasia of the pyramidal tract hypoplasia of the semicircular canal hypoplasia of the semicircular canals hypoplasia of the small intestine hypoplasia of the supraorbital ridge hypoplasia of the supraorbital ridges hypoplasia of the tooth germ hypoplasia of the upper eyelid hypoplasia of the upper eyelids hypoplasia of the ventral pons hypoplasia of the vestibular nerve hypoplasia of the zygomatic bone hypoplasia of tip of nose hypoplasia of upper jaw bone hypoplasia of upper jaw bones hypoplastic - absent sebaceous gland hypoplastic - absent sebaceous glands hypoplastic / absent metacarpal bone hypoplastic / absent metacarpal bones hypoplastic / aplastic distal phalanges hypoplastic / aplastic distal phalanx hypoplastic / aplastic middle phalanx hypoplastic / aplastic pubic bone hypoplastic / aplastic pubic bones hypoplastic / small 3rd finger hypoplastic / small 4th finger hypoplastic / small 5th finger hypoplastic / small index finger hypoplastic / small little finger hypoplastic distal phalanges of feet hypoplastic distal phalanx of foot hypoplastic distal segment of scapula hypoplastic distal segments of scapulae hypoplastic fifth finger middle phalanx hypoplastic inferior crus of antihelix hypoplastic middle index finger phalanx hypoplastic or absent corpus callosum hypoplastic phalanges of the hallux hypoplastic phalanx of the hallux hypoplastic superior crus of antihelix hypoplastic terminal index finger phalanx hypoplastic to absent terminal phalanges hypoplastic to absent terminal phalanx hyporeflective space on macular oct hyporeflective spaces on macular oct hyporeflexia of the low limb hyporeflexia of the lower limbs hypothalamic hypometabolism in fdg pet hypotonia , in neonatal onset hypotonia , neonatal , generalise hypotonia , neonatal , generalised hypotonia , neonatal , generalize hypotonia , neonatal , generalized hypotrophic alveolar process of jaw hypotrophic condylar process of mandible hypotrophic inferior crus of antihelix hypotrophic superior crus of antihelix hypotrophy of the zygomatic bone ichthyosiform abnormality of the skin ichthyosis , congenital , nonblistering iga deposition in the glomerulus ige - mediate bacteria allergy ige - mediate dairy allergy ige - mediate drug allergy ige - mediate egg allergy ige - mediate feather allergy ige - mediate food allergy ige - mediate fungi allergy ige - mediate gluten allergy ige - mediate insect allergy ige - mediate parasite allergy ige - mediate seafood allergy ige - mediate venom allergy ige - mediated bacteria allergy ige - mediated dairy allergy ige - mediated drug allergy ige - mediated egg allergy ige - mediated feather allergy ige - mediated food allergy ige - mediated fungi allergy ige - mediated gluten allergy ige - mediated insect allergy ige - mediated parasite allergy ige - mediated seafood allergy ige - mediated venom allergy impact teeth due to mucopolysaccharidoses impacted teeth due to mucopolysaccharidoses impaired ability to bathe oneself impaired ability to dress oneself impaired ability to shift attention impaired activate t cell proliferation impaired activated t cell proliferation impaired antigen - specific response impaired cellular adaptive immune response impaired histidine renal tubular absorption impaired ig class switch recombination impaired lymphocyte transformation with phytohemagglutinin impaired memory b cell generation impaired neck - righting reflex impaired neutrophil killing of staphylococci impaired non - word repetition impaired pursuit initiation and maintenance impaired reabsorption of cl - impaired renal uric acid clearance impaired ristocetin cofactor assay activity impaired sensitivity to thyroid hormone impaired smooth pursuit ocular movement impaired smooth pursuit ocular movements impaired speech and language development impaired two - point discrimination impaired use of nonverbal behavior impaired use of nonverbal behaviors impaired use of nonverbal behaviour impaired use of nonverbal behaviours impaired vibration sensation at ankle impaired vibration sensation at ankles impotence due to autonomic dysfunction in situ pulmonary artery thrombosis inability to close the eyelid inability to close the eyelids inability to move vocal cord inability to move vocal cords inability to produce voice sound inability to produce voice sounds inability to walk on heel inability to walk on heels incipient distal thumb phalanx duplication incomplete calcification of palatine bone incomplete congenital stationary night blindness incomplete formation of palatine bone incomplete mineralization of palatine bone incomplete ossification of palatine bone incomplete partition of the cochlea incorrect alignment of wrist bone increase anterioposterior diameter of chest increase anterioposterior diameter of thorax increase antibody level in blood increase arden ratio of electrooculogram increase arden ratio of eog increase blood heparan sulfate concentration increase blood heparan sulphate concentration increase body temperature , episodic increase bone density in collarbone increase bone density in rib increase breadth of nasal bridge increase breadth of nasal tip increase c - peptide level increase cd4 : cd8 ratio increase circulate 17 hydroxypregnenolone concentration increase circulate adrenic acid concentration increase circulate arachidonic acid concentration increase circulate arachidonic acid level increase circulate band cell count increase circulate band form neutrophil increase circulate cathepsin d level increase circulate ck bb isoform increase circulate ck mb isoform increase circulate ck mm isoform increase circulate fetuin a concentration increase circulate free t4 level increase circulate heparan sulfate level increase circulate heparan sulphate level increase circulate isovaleric acid concentration increase circulate lactate dehydrogenase concentration increase circulate lipoprotein lipase concentration increase circulate luteinizing hormone level increase circulate mead acid level increase circulate specific ige antibody increase circulate surfactant protein level increase circulate troponin i concentration increase circulate troponin t concentration increase circulating immature neutrophil count increase circumference of foramen magnum increase creatine kinase after exercise increase creatine phosphokinase after exercise increase csf aspartic acid concentration increase density of long bone increase density of spinal bone increase diameter of foramen magnum increase distance between eye socket increase distance between medial canthus increase fat around the neck increase g6pd level in blood increase g6pd level in leukocyte increase g6pd level in rbc increase g6pd level in tissue increase glutamic acid in urine increase glutarate level in urine increase hair growth on body increase height of menton region increase height of upper lip increase helper t cell proportion increase horizontal dimension of face increase horizontal dimension of philtrum increase horizontal length of eyebrow increase in b cell count increase in b cell number increase in t cell count increase in t cell number increase incidence of hepatocellular carcinoma increase iron concentration in liver increase lateral length of eyebrow increase leukocyte count in csf increase long bone fracture rate increase mean corpuscular haemoglobin concentration increase mean corpuscular hb concentration increase mean corpuscular hemoglobin concentration increase mobility in finger joint increase mobility of hinge joint increase naa level in csf increase nt - probnp level increase ossification of calvarial bone increase ossification of cranial bone increase ossification of craniofacial bone increase ossification of facial bone increase ossification of facial skeleton increase ossification of low jaw increase ossification of mandibular bone increase overgrowth of gum ridge increase phosphoribosyl pyrophosphate synthetase activity increase pigmentation around the mouth increase pigmentation on the lip increase pitch variability of speech increase polyhexose concentration in urine increase porosity of tooth enamel increase proinsulin : insulin ratio increase projection of low jaw increase projection of upper jaw increase proportion of cd19+cd38+igm+ cell increase proportion of cd4+cd29+ cell increase proportion of cd4+cd45ra+ cell increase pulmonary arterial wedge pressure increase pulmonary artery occlusion pressure increase pulmonary capillary wedge pressure increase reactive oxygen specie production increase red blood cell count increase red blood cell mass increase red cell osmotic fragility increase red cell osmotic resistance increase red cell sickling tendency increase renal tubular phosphate reabsorption increase risk of pancreatic cancer increase sensitivity to ionise radiation increase sensitivity to ionize radiation increase serum alpha - fetoprotein increase serum beta - hexosaminidase increase serum bile acid concentration increase serum iduronate sulfatase level increase serum il - 6 increase serum il - 8 increase serum interleukin - 6 increase serum interleukin - 8 increase serum surfactant protein level increase sickling of red cell increase size of alveolar ridge increase size of calf muscle increase size of facial muscle increase size of frontal sinus increase size of gum ridge increase size of low jaw increase size of nasopharyngeal adenoid increase size of neck muscle increase size of palpebral fissure increase size of parotid gland increase size of the clitoris increase size of the mandible increase size of upper jaw increase size of upper limb increase spinal bone density z increase subcutaneous truncal adipose tissue increase susceptibility to bacterial infection increase t - antigen concentration increase t3 / t4 ratio increase thyroid - stimulate hormone increase tn - antigen level increase tone of facial muscle increase total hemolytic complement activity increase total igg in blood increase total iron binding capacity increase urinary 1 - methylhistidine increase urinary 3 - methylhistidine increase urinary epithelial cell count increase urinary multiantennary sialylated oligosaccharide increase urinary orotic acid concentration increase urine decanedioic acid concentration increase urine sebacic acid concentration increase variation in fiber size increase variation in fibre size increase waist - hip ratio increase waist to hip ratio increase width of menton region increase width of nasal base increase width of nasal bridge increase width of nasal dorsum increase width of nasal ridge increase width of nasal tip increase width of the forehead increase z - disc width increase z - disk width increased amount of facial fat increased anterioposterior diameter of chest increased anterioposterior diameter of thorax increased antibody level in blood increased arden ratio of electrooculogram increased arden ratio of eog increased blood heparan sulfate concentration increased blood heparan sulphate concentration increased body temperature , episodic increased bone density in collarbone increased bone density in ribs increased breadth of nasal bridge increased breadth of nasal tip increased c - peptide level increased calcium level in kidney increased cd4 : cd8 ratio increased circulating 17 hydroxypregnenolone concentration increased circulating adrenic acid concentration increased circulating arachidonic acid concentration increased circulating arachidonic acid level increased circulating band cell count increased circulating band form neutrophils increased circulating cathepsin d level increased circulating ck bb isoform increased circulating ck mb isoform increased circulating ck mm isoform increased circulating fetuin a concentration increased circulating free t4 level increased circulating heparan sulfate level increased circulating heparan sulphate level increased circulating immature neutrophil count increased circulating isovaleric acid concentration increased circulating lactate dehydrogenase concentration increased circulating lipoprotein lipase concentration increased circulating luteinizing hormone level increased circulating mead acid level increased circulating specific ige antibody increased circulating surfactant protein level increased circulating troponin i concentration increased circulating troponin t concentration increased circumference of foramen magnum increased creatine kinase after exercise increased creatine phosphokinase after exercise increased csf aspartic acid concentration increased density of long bones increased density of spinal bone increased diameter of foramen magnum increased distance between eye sockets increased distance between medial canthi increased fat around the neck increased g6pd level in blood increased g6pd level in leukocytes increased g6pd level in rbcs increased g6pd level in tissue increased glutamic acid in urine increased glutarate level in urine increased hair growth on body increased height of menton region increased height of upper lip increased helper t cell proportion increased horizontal dimension of face increased horizontal dimension of philtrum increased horizontal length of eyebrow increased immature red blood cell increased immature red blood cells increased incidence of hepatocellular carcinoma increased iron concentration in liver increased lateral length of eyebrow increased length of low eyelash increased length of lower eyelashes increased length of the hallux increased length of the tibia increased length of upper eyelash increased length of upper eyelashes increased leukocyte count in csf increased level of alpha fetoprotein increased levels of alpha fetoprotein increased long bone fracture rate increased mean corpuscular haemoglobin concentration increased mean corpuscular hb concentration increased mean corpuscular hemoglobin concentration increased mobility in finger joint increased mobility of hinge joints increased naa levels in csf increased nt - probnp level increased number of b cell increased number of b cells increased number of lymph node increased number of lymph nodes increased number of skin fold increased number of skin folds increased ossification of calvarial bones increased ossification of cranial bones increased ossification of craniofacial bones increased ossification of facial bones increased ossification of facial skeleton increased ossification of lower jaw increased ossification of mandibular bone increased phosphoribosyl pyrophosphate synthetase activity increased pigmentation around the mouth increased pigmentation on the lips increased pitch variability of speech increased polyhexose concentration in urine increased porosity of tooth enamel increased proinsulin : insulin ratio increased projection of lower jaw increased projection of upper jaw increased proportion of cd19+cd38+igm+ cells increased proportion of cd4+cd29+ cells increased proportion of cd4+cd45ra+ cells increased pulmonary arterial wedge pressure increased pulmonary artery occlusion pressure increased pulmonary capillary wedge pressure increased reactive oxygen species production increased red blood cell count increased red blood cell mass increased red cell osmotic fragility increased red cell osmotic resistance increased red cell sickling tendency increased renal tubular phosphate reabsorption increased risk of pancreatic cancer increased sensitivity to ionising radiation increased sensitivity to ionizing radiation increased serum alpha - fetoprotein increased serum beta - hexosaminidase increased serum bile acid concentration increased serum iduronate sulfatase level increased serum il - 6 increased serum il - 8 increased serum interleukin - 6 increased serum interleukin - 8 increased serum surfactant protein level increased sickling of red cells increased size of alveolar ridge increased size of calf muscles increased size of facial muscles increased size of frontal sinus increased size of gum ridge increased size of lower jaw increased size of nasopharyngeal adenoids increased size of neck muscles increased size of palpebral fissures increased size of parotid gland increased size of the clitoris increased size of the mandible increased size of upper jaw increased size of upper limb increased spinal bone density z increased stiffness of facial muscle increased stiffness of facial muscles increased subcutaneous truncal adipose tissue increased susceptibility to bacterial infections increased t - antigen concentration increased t3 / t4 ratio increased thickness of cranial vault increased thickness of skin epidermis increased thickness of skull base increased thickness of skull cap increased thyroid - stimulating hormone increased tn - antigen level increased tone of facial muscles increased total hemolytic complement activity increased total igg in blood increased total iron binding capacity increased transverse dimension of face increased transverse dimension of philtrum increased transverse length of eyebrow increased urinary 1 - methylhistidine increased urinary 3 - methylhistidine increased urinary epithelial cell count increased urinary multiantennary sialylated oligosaccharide increased urinary orotic acid concentration increased urine decanedioic acid concentration increased urine sebacic acid concentration increased variation in fiber size increased variation in fibre size increased vertical dimension of face increased vertical dimension of philtrum increased vertical height of eyebrow increased vertical thickness of eyebrow increased vertical width of eyebrow increased volume of frontal sinus increased volume of lip vermillion increased volume of low lip increased volume of lower lip increased volume of upper lip increased waist - hip ratio increased waist to hip ratio increased width of menton region increased width of nasal base increased width of nasal bridge increased width of nasal dorsum increased width of nasal ridge increased width of nasal tip increased width of the forehead increased z - disc width increased z - disk width increasing overgrowth of gum ridge increasing size of gum ridge index finger dermatoglyphic radial loop infantile ( constant ) esotropia infantile ( constant ) exotropia infantile cardiomyopathy with histiocytoid change infantile cardiomyopathy with histiocytoid changes infection due to encapsulated bacteria infection of the lacrimal sac inflammation of cartilage of pinna inflammation of the large intestine inflammation of the lymph node inflammation of the lymph nodes inflammatory abnormality of the eye inflammatory abnormality of the skin insulin - dependent diabetes mellitus insulin - resistant diabetes mellitus intense psychological distress to cue intense psychological distress to cues interlobular intima / media venosclerosis interlobular intima / medium venosclerosis interlobular vein intimal mucoid edema intermittent abnormally low body temperature intermittent generalise erythematous papular rash intermittent generalised erythematous papular rash intermittent generalize erythematous papular rash intermittent generalized erythematous papular rash internally nucleated skeletal muscle fiber internally nucleated skeletal muscle fibers internally nucleated skeletal muscle fibre internally nucleated skeletal muscle fibres interphalangeal extension contracture of thumb interphalangeal extension contractures of thumbs interphalangeal joint contracture of finger interrupt aortic arch type a interrupt aortic arch type b interrupt aortic arch type c interrupted aortic arch type a interrupted aortic arch type b interrupted aortic arch type c interventricular septum membranous part aneurysm intolerance to heat and fever intolerance to heat and fevers intraaxonal accumulation of curvilinear profile intraaxonal accumulation of curvilinear profiles intracranial internal carotid artery dissection intrahepatic atresia of biliary duct intrahepatic cholestasis with episodic jaundice intralamellar mucoid extracellular matrix accumulation intraluminal thrombi within arcuate veins intraluminal thrombi within interlobular veins intraluminal thrombus within arcuate vein intraluminal thrombus within interlobular vein intratubular light - chain cast intratubular light - chain casts intrauterine growth retardation , iugr intrauterine growth retardation , severe invert cd4 / cd8 ratio invert cd4 : cd8 ratio inverted cd4 / cd8 ratio inverted cd4 : cd8 ratio involuntary dystonic or choreiform movement involuntary dystonic or choreiform movements involvement of the corticospinal pathway involvement of the corticospinal pathways ipsilateral lack of facial sweating iq between 34 and 49 iron accumulation in globus pallidus iron accumulation in substantia nigra irregular , dense end plate irregular epiphyses of the elbow irregular epiphyses of the fingers irregular epiphyses of the hallux irregular epiphyses of the metacarpals irregular epiphyses of the thumb irregular epiphyses of the toes irregular epiphysis of the elbow irregular epiphysis of the finger irregular epiphysis of the hallux irregular epiphysis of the metacarpal irregular epiphysis of the thumb irregular epiphysis of the toe irregular innermost shankbone end part irregular innermost shinbone end part irregular long bone of hand irregular long bones of hand irregular maturation of hand bone irregular maturation of hand bones irregular ossification of hand bone irregular ossification of hand bones irregular ossification of humeral metaphyses irregular outermost thighbone end part irregular sclerosis of hand bone irregular sclerosis of hand bones ivory epiphyses of the fingers ivory epiphyses of the hallux ivory epiphyses of the metacarpals ivory epiphyses of the thumb ivory epiphyses of the toes ivory epiphysis of the finger ivory epiphysis of the hallux ivory epiphysis of the metacarpal ivory epiphysis of the thumb ivory epiphysis of the toe j - shape hypophysial fossa j - shape pituitary fossa j - shaped hypophysial fossa j - shaped pituitary fossa j - shaped sella turcica jaw dystonia induce by speak jaw dystonia induced by speaking jerk - lock premyoclonus spike jerk - locked premyoclonus spikes jerky movement of the tongue jerky movements of the tongue joint contracture of the hallux joint contracture of the hand joint contracture of the thumb joint contractures of the thumb joint pain / joint inflammation juvenile osteochondrosis of the spine juvenile posterior subcapsular lenticular opacities juvenile posterior subcapsular lenticular opacity juxtaductal coarctation of the aorta keratan sulfate excretion in urine keratan sulphate excretion in urine kidney degeneration on one side knee joint over - flexibility lack of coordination of movement lack of cupid 's bow lack of energy and strength lack of facial subcutaneous fat lack of fat in blood lack of purposeful hand use lack of t cell function lacy appearance of iliac crest laquer crack of the retina laquer cracks of the retina large antegonial notch of mandible large central visual field defect large cerebral ventricle and cisterna large cerebral ventricles and cisternae large cranium present at birth large cranium present since birth large end part of bone large head present at birth large head present since birth large permanent maxillary central incisor large permanent upper central incisor large skull present at birth large skull present since birth large terminal thumb phalanx epiphysis laser pointer - induce maculopathy laser pointer - induce retinopathy laser pointer - induced maculopathy laser pointer - induced retinopathy late - onset muscular dystrophy late - onset speech development late - onset spinocerebellar degeneration late closure of anterior fontanelle late eruption of baby teeth late eruption of milk teeth late eruption of primary teeth lateral deviation of great toe lateral marginal vein of servelle lateral rectus muscle denervation paresis leave ventricular outflow tract obstruction left - side heart failure left - sided heart failure left ventricle to aorta tunnel left ventricular outflow tract obstruction lengthen pr interval on ekg lengthened pr interval on ekg lethal dwarfism identifiable at birth lethal short - limbed dwarfism lethal short - trunk dwarfism levotransposition of the great arteries levotransposition of the great artery leydig cell insensitivity to gonadotropin light or infrequent menstrual period light or infrequent menstrual periods limb - girdle muscle atrophy limb - girdle muscle weakness limb - girdle muscular dystrophy limitation of movement at ankle limitation of movement at ankles limited area of gum disease limited cervical range of motion limited elbow extension and supination limited elbow flexion / extension limited knee flexion / extension limited movement of hinge joint limited movement of hinge joints limited movement of the wrist limited neck range of motion lipid accumulation in skeletal muscle lobster - claw foot deformity localised area of pendulous skin localised dysplasia of tooth enamel localised hypoplasia of dental enamel localised hypoplasia of tooth enamel localised seizure with behavioural arrest localised seizure with epigastric sensation localised seizure with impaired awareness localized area of pendulous skin localized dysplasia of tooth enamel localized hypoplasia of dental enamel localized hypoplasia of tooth enamel localized seizure with behavioral arrest localized seizure with epigastric sensation localized seizure with impaired awareness long - chain dicarboxylic aciduria long - segment aganglionic megacolon long distal phalanx of finger long eyelash in irregular row long eyelashes in irregular rows long low third of face long lower third of face long middle bone of finger long middle phalanx of finger long open between the eyelid long opening between the eyelids long outermost bone of finger long proximal phalanx of finger long q - t syndrome long styloid process of ulna loss of ability to walk loss of deep tendon reflex loss of deep tendon reflexes loss of facial adipose tissue loss of fat around neck loss of large myelinated fiber loss of large myelinated fibers loss of large myelinated fibre loss of large myelinated fibres loss of primary podocyte process loss of primary podocyte processes loss of salt in urine loss of truncal adipose tissue low - frequency hearing loss low - grade vesicoureteral reflux low - limb metaphyseal irregularity low - set frontal hairline low alp of bone origin low alp of hepatic origin low alp of renal origin low blood level of taurine low blood sugar in newborn low blood sugar when fasting low blood uric acid level low blood uric acid levels low cord blood oxygen level low csf 5 - hiaa low csf 5 - methyltetrahydrofolate low extremity peripheral arterial calcification low extremity peripheral artery calcification low extremity subcutanous fat hypertrophy low hang septum of nose low hanging septum of nose low implantation of the thumb low level of amniotic fluid low level of immunoglobulin a low level of vitamin a low level of vitamin b1 low level of vitamin b2 low level of vitamin b5 low level of vitamin b8 low level of vitamin c low level of vitamin d low level of vitamin e low level of vitamin k low levels of amniotic fluid low levels of immunoglobulin a low levels of vitamin a low levels of vitamin b1 low levels of vitamin b2 low levels of vitamin b5 low levels of vitamin b8 low levels of vitamin c low levels of vitamin d low levels of vitamin e low levels of vitamin k low maternal serum chorionic gonadotropin low muscle tone in trunk low nasal nitric oxide level low or weak muscle tone low serum 1,25 - dihydroxycholecalciferol low serum 25 - hydroxycholecalciferol low to undetectable plasma cortisol low white blood cell count lower - limb metaphyseal irregularity lower blood levels of taurine lower extremity peripheral arterial calcification lower extremity peripheral artery calcification lower extremity subcutanous fat hypertrophy lung disease with systemic sclerosis lymph node lack germinal center lymph node lack germinal centre lymph nodes lack germinal center lymph nodes lack germinal centre lymphonodular hyperplasia of the colon lytic defect of carpal bone lytic defect of hand bone lytic defect of humeral diaphysis lytic defect of radial diaphysis lytic defect of radial metaphysis lytic defect of the humerus lytic defect of the radius lytic defect of ulnar metaphysis lytic defects of carpal bones lytic defects of hand bones lytic defects of humeral diaphysis lytic defects of radial diaphysis lytic defects of radial metaphysis lytic defects of the humerus lytic defects of the radius lytic defects of ulnar metaphysis macular retinal pigment epithelial mottling madelung - like forearm deformities madelung - like forearm deformity malalignment of the great toenail male with female external genitalia males with female external genitalia malformation of base of nose malformation of cartilage of nose malformation of cranial vault shape malformation of facial adipose tissue malformation of facial soft tissue malformation of the ethmoid bone malformation of the external nose malformation of the frontal bone malformation of the lacrimal bone malformation of the low lip malformation of the lower lip malformation of the malar arch malformation of the malar bone malformation of the malar bones malformation of the nasal ala malformation of the nasal bone malformation of the nasal bones malformation of the nasal bridge malformation of the nasal dorsum malformation of the nasal ridge malformation of the nasal skeleton malformation of the nasal tip malformation of the nasolabial region malformation of the palatine bone malformation of the palpebral fissure malformation of the palpebral fissures malformation of the periauricular region malformation of the periorbital region malformation of the supraorbital margin malformation of the supraorbital margins malformation of the supraorbital ridge malformation of the supraorbital ridges malformation of the temporomandibular joint malformation of the upper lip malformation of the zygomatic arch malformation of the zygomatic bone malformation of tip of nose malignant neoplasm of the cns malignant ovarian granulosa cell tumor malignant ovarian granulosa cell tumour malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumour malrotation of the small intestine marcus gunn jaw wink synkinesis marcus gunn jaw winking synkinesis mark delay in bone age mark retardation in skeletal maturation marked delay in bone age marked retardation in skeletal maturation marked sclerosis of skull base mask - like facial appearance massively thicken long bone cortex massively thickened long bone cortices meconium - stain amniotic fluid meconium - stained amniotic fluid meconium staining of amniotic fluid medial / intimal arcuate venosclerosis medial / intimal arcuate venulitis medial atrophy within arcuate vein medial atrophy within arcuate veins medial atrophy within interlobular arteries medial atrophy within interlobular artery medial atrophy within interlobular vein medial atrophy within interlobular veins medial calcification of large arteries medial calcification of large artery medial calcification of small arteries medial calcification of small artery medial cleft lip and palate medial deviation of the foot medial flaring of the eyebrow medial hypertrophy within arcuate vein medial hypertrophy within arcuate veins medial hypertrophy within interlobular arteries medial hypertrophy within interlobular artery medial hypertrophy within interlobular vein medial hypertrophy within interlobular veins medially fuse radial epiphyseal plate medially fused radial epiphyseal plates median cleft lip and palate medullary peritubular capillary erythrocyte congestion medullary peritubular capillary intraluminal thrombi medullary peritubular capillary intraluminal thrombus meiotic maturation arrest of spermatogenesis melanotic macule of oral mucosa mesomelia of the low limb mesomelia of the lower limbs mesomelia of the upper limb mesomelia of the upper limbs mesomelic / rhizomelic limb shorten mesomelic / rhizomelic limb shortening metabolic crises during febrile infections metabolic crisis during febrile infection metacarpal / phalangeal joint contracture metacarpal / phalangeal joint contractures metacarpal cone - shaped epiphyses metacarpal cone - shaped epiphysis metaphase i oocyte meiotic arrest metaphyseal cupping of proximal phalanges metaphyseal cupping of proximal phalanx metaphyseal flaring of long bone metaphyseal flaring of long bones microcephaly , postnatal , progressive mid - frequency hearing loss middle ear hypoplasia / aplasia midline central nervous system lipoma midline central nervous system lipomas midline cleft lip / palate midline defect of the nose midline direction of ventricular apex midline skull joint close early midline skull joint closes early mild and nonprogressive mental retardation mild malformation of cortical development mild peripheral visual field loss mild reduction in contrast sensitivity mild reduction in visual acuity mildly increase serum creatine kinase mildly increased serum creatine kinase minimal fat below the skin minor malformation of the auricle minor malformation of the auricles mirror image duplication of digit mirror image duplication of digits mirror image dupliction of finger mirror image dupliction of fingers mirror image dupliction of toe mirror image dupliction of toes misalignment of the pulmonary vein misalignment of the pulmonary veins miss adult lower central incisor miss adult lower lateral incisor miss adult upper central incisor miss deciduous mandibular central incisor miss deciduous mandibular lateral incisor miss deciduous maxillary central incisor miss deciduous maxillary lateral incisor miss low front baby tooth miss low front milk tooth miss low front primary tooth miss middle part of collarbone miss more than six teeth miss permanent low central incisor miss permanent low front tooth miss permanent mandibular central incisor miss permanent mandibular lateral incisor miss permanent maxillary central incisor miss permanent maxillary lateral incisor miss permanent upper central incisor miss permanent upper front tooth miss permanent upper lateral incisor miss primary mandibular central incisor miss primary mandibular lateral incisor miss primary maxillary central incisor miss primary maxillary lateral incisor miss upper front baby tooth miss upper front milk tooth missing adult lower central incisor missing adult lower lateral incisor missing adult upper central incisor missing deciduous mandibular central incisor missing deciduous mandibular lateral incisor missing deciduous maxillary central incisor missing deciduous maxillary lateral incisor missing lower front baby tooth missing lower front milk tooth missing lower front primary tooth missing middle part of collarbone missing more than six teeth missing permanent lower central incisor missing permanent lower front tooth missing permanent mandibular central incisor missing permanent mandibular lateral incisor missing permanent maxillary central incisor missing permanent maxillary lateral incisor missing permanent upper central incisor missing permanent upper front tooth missing permanent upper lateral incisor missing primary mandibular central incisor missing primary mandibular lateral incisor missing primary maxillary central incisor missing primary maxillary lateral incisor missing upper front baby tooth missing upper front milk tooth mitochondrial proliferation in muscle tissue mixed demyelinating and axonal polyneuropathy mixed respiratory and metabolic acidosis mixed sclerosis of humeral metaphyses mobitz type 1 atrioventricular block mobitz type 2 atrioventricular block moderate growth delay in child moderate growth delay in children moderate peripheral visual field loss moderate reduction in contrast sensitivity moderate reduction in visual acuity moderately increased serum creatine kinase modic type vertebral endplate change modic type vertebral endplate changes molar tooth sign on mri monoclonal elevation of circulate iga monoclonal elevation of circulate ige monoclonal elevation of circulating iga monoclonal elevation of circulating ige monoclonal elevation of intact igg monoclonal light chain cardiac amyloidosis morphological abnormality of the cns morphological abnormality of the saccule morphological abnormality of the utricle morphological central nervous system abnormality motor developmental milestone not achieve motor developmental milestones not achieved mottle pigmentation of oral mucosa mottle pigmentation of photoexposed area mottled pigmentation of oral mucosa mottled pigmentation of photoexposed areas movement abnormality of the tongue mucinous neoplasm of the ovary multidrug - resistant nephrotic syndrome multifocal cerebral white matter abnormalities multifocal cerebral white matter abnormality multifocal sub - rpe deposit multifocal sub - rpe deposits multiple central nervous system lipoma multiple central nervous system lipomas multiple episode of otitis medium multiple episodes of otitis media multiple fracture present at birth multiple fractures present at birth multiple long - bone exostoses multiple long - bone exostosis multiple muscular ventricular septal defect multiple muscular ventricular septal defects multiple non - erupt teeth multiple non - erupting teeth multiple pouch in bladder wall multiple pouches in bladder wall multiple pulmonary interstitial hyalinized nodule multiple pulmonary interstitial hyalinized nodules multiple small medullary renal cyst multiple small medullary renal cysts multiple small renal cortical cyst multiple small renal cortical cysts muscle biopsy show dystrophic change muscle biopsy shows dystrophic changes muscle fiber actin filament accumulation muscle fiber cytoplasmatic inclusion bodies muscle fiber cytoplasmatic inclusion body muscle fiber intranuclear inclusion bodies muscle fiber intranuclear inclusion body muscle fibre actin filament accumulation muscle fibre cytoplasmatic inclusion bodies muscle fibre cytoplasmatic inclusion body muscle fibre intranuclear inclusion bodies muscle fibre intranuclear inclusion body muscle issue in the back muscle issue in the chest muscle issue in the shoulder muscle issues in the back muscle issues in the chest muscle issues in the shoulder muscle specific kinase antibody positivity muscle twitch in eye lid muscle twitches in eye lid muscle weakness in low limb muscle weakness in lower limbs muscular hypotonia of the trunk myocardial or conduction system hamartoma myoclonic status epilepticus with coma myoclonic status epilepticus without coma myotonia of the low limb myotonia of the lower limb myotonia of the upper limb naevus flammeus of the eyelid naris , slit - like narrow , high iliac wing narrow , high iliac wings narrow , highly arched palate narrow and high arch palate narrow and high arched palate narrow joint space of wrist narrow joint spaces of wrist narrow neck of thigh bone narrow opening between the eyelid narrow opening between the eyelids narrow palpebral fissure , unilateral narrowing and hardening of arteries narrowing and hardening of artery narrowing of a cerebral artery narrowing of aqueduct of sylvius narrowing of bone marrow canal narrowing of bone medullary canal narrowing of peripheral lung artery narrowing of the marrow cavity narrowing of the tear duct nasogastric tube feeding in infancy nasolacrimal sac epithelial papillary carcinoma necrosis of the kidney cortex negative nitroblue tetrazolium reduction test neonatal bilateral asymmetric epileptic spasm neonatal bilateral asymmetric myoclonic seizure neonatal bilateral asymmetric tonic seizure neonatal bilateral symmetric epileptic spasm neonatal bilateral symmetric myoclonic seizure neonatal bilateral symmetric tonic seizure neonatal electro - clinical seizure neonatal seizure with electrographic correlate neonatal seizure with unilateral automatism neonatal short - limbed dwarfism neoplasia of the biliary tract neoplasia of the middle ear neoplasia of the nervous system neoplasia of the skeletal system neoplasia of the thyroid gland neoplasm of head and neck neoplasm of the adrenal cortex neoplasm of the adrenal gland neoplasm of the adrenal medulla neoplasm of the anterior pituitary neoplasm of the ceruminal gland neoplasm of the endocrine system neoplasm of the gastrointestinal tract neoplasm of the genitourinary tract neoplasm of the gi tract neoplasm of the gu tract neoplasm of the inner ear neoplasm of the large intestine neoplasm of the middle ear neoplasm of the nervous system neoplasm of the oral cavity neoplasm of the outer ear neoplasm of the par anterior neoplasm of the paranasal sinus neoplasm of the paranasal sinuses neoplasm of the parathyroid gland neoplasm of the pars anterior neoplasm of the pituitary gland neoplasm of the posterior pituitary neoplasm of the respiratory system neoplasm of the skeletal system neoplasm of the small intestine neoplasm of the thyroid gland neoplasm of the tracheobronchial system neuroaxonal degeneration in the brain neuroendocrine carcinoma of the skin neuroendocrine tumor of the skin neuroendocrine tumour of the skin neuronal loss in basal ganglia neuronal loss in basal ganglion neutrophilia in absence of infection neutrophilia in presence of infection neutrophilic infiltration of the skin nevus flammeus of the forehead night blindness , congenital stationary no development of motor milestone no development of motor milestones no speech or language development nodular change affect the eyelid nodular changes affecting the eyelids nodular pattern on pulmonary hrct nodular regenerative hyperplasia of liver non - acidotic proximal tubulopathy non - allergic food hypersensitivity non - cancerous gi tumor non - cancerous gi tumors non - cancerous gi tumour non - cancerous gi tumours non - caseate pulmonary granulomatosis non - caseating pulmonary granulomatosis non - detectable photopic erg non - functional pituitary adenoma non - immune fetal hydrops non - immune foetal hydrops non - insulin dependent diabetes non - medullary thyroid carcinoma non - midline cleft lip non - midline cleft palate non - necrotizing pulmonary granulomatosis non - periodic recurrent fever non - progressive sperm motility non - secretory adrenal adenoma non - secretory adrenocortical adenoma nonarteritic anterior ischaemic optic neuropathy nonarteritic anterior ischemic optic neuropathy noncancerous tumor in pituitary gland noncancerous tumour in pituitary gland noncompaction of the ventricular myocardium noninsulin - dependent diabetes mellitus notch innermost bone of thumb notch of low alveolar process notch of low alveolar ridge notch of low gum ridge notch of lower alveolar process notch of lower alveolar ridge notch of lower gum ridge notch of mandibular alveolar process notch of mandibular alveolar ridge notch outermost bone of hand notch outermost bone of thumb notch outermost bone of toe notch outermost pinky finger bone notched innermost bone of thumb notched outermost bone of hand notched outermost bone of thumb notched outermost bones of toes notched outermost pinky finger bone notching of the ear helix nummular pigmentation of the fundus nummular pigmentation of the retina nystagmus - induced head nod nystagmus - induced head nodding oat cell carcinoma of lung obliteration of cranial cancellous bone obliteration of the calvarial diploe obliteration of the pulp chamber odontogenic keratocysts of the jaw oedema of dorsum of feet oedema of dorsum of foot oedema of dorsum of hand oedema of dorsum of hands oedema of the basal ganglia oedema of the basal ganglion oedema of the low limb oedema of the lower limbs oedema of the upper limb oedema of the upper limbs oligoclonal elevation of circulate iga oligoclonal elevation of circulate ige oligoclonal elevation of circulate igg oligoclonal elevation of circulate igm oligoclonal elevation of circulating iga oligoclonal elevation of circulating ige oligoclonal elevation of circulating igg oligoclonal elevation of circulating igm one side cleft upper lip one sided cleft upper lip ongoing loss of nerve cell ongoing loss of nerve cells only one upper front tooth onset of lymphedema around puberty oocyte arrest at metaphase i opacification of the corneal epithelium opacification of the corneal stroma osseous syndactyly of the finger osseous syndactyly of the fingers osseous syndactyly of the toe osseous syndactyly of the toes ossify fibroma of the jaw ossifying fibroma of the jaw osteochondrosis of the femoral head osteolytic defect of thumb phalanx osteonecrosis of the femoral head osteosclerosis of the skull base ostium primum atrial septal defect ostium secundum atrial septal defect ovarian juvenile granulosa cell tumor ovarian juvenile granulosa cell tumour overfolding of the superior helices overfolding of the superior helix overgrowth and curving of fingernail overgrowth and curving of toenail overgrowth and curving of toenails overgrowth of half of face overgrowth of the facial bone overgrowth of the facial bones overinflation on pulmonary function test ovoid - shaped vertebral bodies ovoid - shaped vertebral body ovoid thoracic and lumbar vertebra ovoid thoracic and lumbar vertebrae pain of muscle of mastication pain of muscles of mastication painless fracture due to injury painless fractures due to injury palate , high - arch palate , high - arched palpebral fissure down - slanted palpebral fissure narrow on adduction palpebral fissure narrowing on adduction palpebral fissures down - slanted pancreatic alpha - cell hyperplasia pancreatic islet - cell hyperplasia pancreatic islet - cell hypertrophy papillary cystadenoma of the epididymis paraganglioma of head and neck paragangliomas , head and neck paralysis of all four limb paralysis of all four limbs paralysis of extraocular eye movement parasagittal parieto - occipital polymicrogyria parietal hypometabolism in fdg pet part - solid pulmonary nodule partial absence of cerebellar vermis partial absence of low eyelash partial absence of lower eyelashes partial absence of upper eyelash partial absence of upper eyelashes partial agenesis of corpus callosum partial anodontia of deciduous teeth partial anodontia of primary teeth partial anomalous pulmonary venous connection partial anomalous pulmonary venous return partial complement factor h deficiency partial diaphragmatic absence of pericardium partial duplication of big toe partial duplication of hand bone partial duplication of hand bones partial duplication of thumb phalanx partial functional factor d deficiency partial fusion of the gum partial fusion of the gums partial nodular transformation of liver partial seizure with behavior arrest partial seizure with behaviour arrest partial seizure with cephalic sensation partial seizure with epigastric sensation partial seizure with retained awareness partial seizure with secondary generalisation partial seizure with secondary generalization partial seizure without motor onset partial seizures with secondary generalisation partial seizures with secondary generalization partial thickness cleave hard palate partial thickness cleft hard palate partial thickness cleft soft palate patchy hypo - and hyperpigmentation patchy loss of skin color patchy loss of skin colour patchy sclerosis of finger phalanx patchy sclerosis of hallux phalanx patchy sclerosis of hand bone patchy sclerosis of hand bones patchy sclerosis of radial diaphysis patchy sclerosis of thumb phalanx patchy sclerosis of toe phalanx pathologic hair loss from scalp pattern dystrophy of the retina paucity of cerebral white matter pause in breathe while sleep pauses in breathing while sleeping pear - shaped vertebral bodies pear - shaped vertebral body pectoral muscle hypoplasia / aplasia pectus carinatum or pectus excavatum pectus excavatum of inferior sternum pectus excavatum or pectus carinatum peg - fed in infancy peg - feed in infancy peg shape front baby tooth peg shape low front tooth peg shape upper front tooth peg shape upper lateral incisor peg shaped front baby tooth peg shaped lower front tooth peg shaped upper front tooth peg shaped upper lateral incisors perforation of the nasal septum peri - ocular capillary hemangioma periarticular soft - tissue mass periosteal new bone of humerus peripheral edema of low extremity peripheral edema of lower extremity peripheral oedema of low extremity peripheral oedema of lower extremity peripheral opacification of the cornea peripheral sensory neuropathy , distal perisylvian predominant thick cortex pachygyria perivascular myocardial immune cell infiltration periventricular cerebral white matter hypodensities permanent curving of the finger permanent flexion of the finger persistence of the hyaloid artery persistent , open anterior fontanel persistent asymmetrical tonic neck reflex persistent hyperplasia of primary vitreous persistent leave superior vena cava persistent left superior vena cava persistent truncus arteriosus type i persistent truncus arteriosus type ii persistent truncus arteriosus type iii persistent truncus arteriosus type iv phalangeal cone - shaped epiphyses phalangeal cone - shaped epiphysis photosensitive tonic - clonic seizure photosensitive tonic - clonic seizures pinhole visual acuity 0.1 logmar pinhole visual acuity 0.2 logmar pinhole visual acuity 0.3 logmar pinhole visual acuity 0.4 logmar pinhole visual acuity 0.5 logmar pinhole visual acuity 0.6 logmar pinhole visual acuity 0.7 logmar pinhole visual acuity 0.8 logmar pinhole visual acuity 0.9 logmar pinhole visual acuity 1.0 logmar pinhole visual acuity 1.1 logmar pinhole visual acuity 1.2 logmar pinhole visual acuity 1.3 logmar pinhole visual acuity 2.0 logmar pinhole visual acuity 3.0 logmar pituitary acidophilic stem cell adenoma pituitary growth hormone cell adenoma pituitary resistance to thyroid hormone plaque - like facial hemangioma polyclonal elevation of circulate iga polyclonal elevation of circulate ige polyclonal elevation of circulate igg polyclonal elevation of circulating iga polyclonal elevation of circulating ige polyclonal elevation of circulating igg polydactyly affect the 2nd finger polydactyly affect the 2nd toe polydactyly affect the 3rd finger polydactyly affect the 3rd toe polydactyly affect the 4th finger polydactyly affect the 4th toe polydactyly affect the 5th finger polydactyly affect the 5th toe polydactyly affecting the 2nd finger polydactyly affecting the 2nd toe polydactyly affecting the 3rd finger polydactyly affecting the 3rd toe polydactyly affecting the 4th finger polydactyly affecting the 4th toe polydactyly affecting the 5th finger polydactyly affecting the 5th toe polymorphic and polytopic ventricular extrasystole polymorphic and polytopic ventricular extrasystoles poor hand - eye coordination poor visual behavior for age poor visual behaviour for age portal fibrosis show on biopsy portal fibrosis shown on biopsy positive carpal hoffmann tinel sign positive gastric fluid barbiturate test post - capillary pulmonary hypertension post - vaccination rotavirus infection postductal coarctation of the aorta posterior atrophy of corpus callosum posterior displacement of the tongue posterior flattening of the skull posterior fusion of lumbosacral vertebra posterior fusion of lumbosacral vertebrae posterior predominant subcortical band heterotopia posterior predominant thick cortex pachygyria posterior scalloping of vertebral bodies posterior scalloping of vertebral body posterior subluxation of radial head posterior wedging of vertebral bodies posterior wedging of vertebral body posterior y - sutural cataract posterior y - sutural cataracts postnatal - onset ichthyosiform erythroderma postnatal deceleration of head circumference postural hypotension with compensatory tachycardia pre - capillary pulmonary hypertension preaxial polydactyly of the feet preaxial polydactyly of the foot precocious eruption of secondary dentition precocious eruption of secondary teeth preductal coarctation of the aorta prefrontal hypometabolism in fdg pet premature calcification of mitral annulus premature closure of cranial suture premature closure of cranial sutures premature delivery of affected infant premature delivery of affected infants premature epimetaphyseal fusion in fibula premature epimetaphyseal fusion in foot premature epimetaphyseal fusion in hand premature epimetaphyseal fusion in radius premature epimetaphyseal fusion in tibia premature epimetaphyseal fusion in ulna premature eruption of adult teeth premature eruption of permanent teeth premature exfoliation of deciduous teeth premature exfoliation of primary teeth premature fusion of phalangeal epiphyses premature fusion of phalangeal epiphysis premature graying of body hair premature graying of the hair premature greying of body hair premature greying of the hair premature loss of adult teeth premature loss of baby teeth premature loss of deciduous teeth premature loss of permanent teeth premature loss of primary teeth premature loss of secondary teeth premature separation of centromeric heterochromatin prenatal - onset growth retardation primary central nervous system lymphoma primary pulmonary dysgenesis , unilateral proclination of the upper incisor proclination of the upper incisors profound depletion of t4+ lymphocyte profound depletion of t4+ lymphocytes prognathia of the upper jaw progressive acroosteolysis of the clavicle progressive bilateral sensorineural hearing loss progressive bowing of long bone progressive bowing of long bones progressive calcification of costochondral cartilage progressive cervical vertebral spine fusion progressive drooping of upper eyelid progressive high frequency hearing loss progressive loss of facial fat progressive mental and motor deterioration progressive sclerosis of skull base prolactin - secrete pituitary adenoma prolactin - secreting pituitary adenoma prolong activate partial thromboplastin time prolong bleeding after dental extraction prolong bleeding after minor trauma prolong qt interval on ekg prolonged activated partial thromboplastin time prolonged bleeding after dental extraction prolonged bleeding after minor trauma prolonged brainstem auditory evoke potential prolonged brainstem auditory evoked potentials prolonged euglobulin clot lysis time prolonged qrs complex on ekg prominence of the intermaxillary bone prominence of the zygomatic bone prominent , protrude upper incisor prominent , protruding upper incisors prominent area between the eyebrow prominent area between the eyebrows prominent back of the head prominent back of the skull prominent inferior crus of antihelix prominent styloid process of ulna prominent superior crus of antihelix prominent supraorbital arch in adult prominent supraorbital arches in adult propionyl - coa carboxylase deficiency proportionate shortening of all digit proportionate shortening of all digits protrude area between the eyebrow protrude back of the head protruding area between the eyebrows protruding back of the head protrusion of the maxillary incisor protrusion of the maxillary incisors proximal interphalangeal finger joint contracture proximal interphalangeal finger joint contractures proximal low limb muscle atrophy proximal lower limb muscle atrophy proximal placement of big toe proximal polyposis of the stomach proximal radio - ulnar synostosis proximal tibial and fibular fusion proximal upper limb muscle atrophy proximal upper limb muscle hypertrophy pseudarthrosis of the forearm bone pseudarthrosis of the forearm bones pseudo - chilblain on finger pseudo - chilblain on toe pseudo - chilblains on fingers pseudo - chilblains on toes pseudoepiphyses of middle finger phalanges pseudoepiphyses of middle finger phalanx pseudoepiphyses of the 2nd finger pseudoepiphyses of the 2nd toe pseudoepiphyses of the 3rd finger pseudoepiphyses of the 3rd toe pseudoepiphyses of the 4th finger pseudoepiphyses of the 4th toe pseudoepiphyses of the 5th finger pseudoepiphyses of the 5th toe pseudoepiphysis of the 1st metacarpal pseudoepiphysis of the 1st metatarsal pseudoepiphysis of the 2nd metacarpal pseudoepiphysis of the 3rd metacarpal pseudoepiphysis of the 4th metacarpal pseudoepiphysis of the 5th metacarpal psychogenic non - epileptic seizure psychomotor regression begin in infancy psychomotor regression beginning in infancy pubertal developmental failure in female pubertal developmental failure in females punctate opacification of the cornea punctate periventricular t2 hyperintense foci punctate periventricular t2 hyperintense focus pustulosis of palm and sol pustulosis of palms and soles pyridoxine - responsive sideroblastic anaemia pyridoxine - responsive sideroblastic anemia pyrimidine - responsive megaloblastic anaemia pyrimidine - responsive megaloblastic anemia radial deviation of the hand radial deviation of the thumb radial head dislocation / subluxation radiation - induced chromosome instability rag - red muscle fiber rag - red muscle fibre ragged - red muscle fibers ragged - red muscle fibres recurrent acute respiratory tract infection recurrent cerebellar and extrapyramidal encephalopathy recurrent deep organ abscess formation recurrent deep vein blood clot recurrent episode of infectious dermatitis recurrent episode of otitis medium recurrent episodes of infectious dermatitis recurrent episodes of otitis media recurrent infection due to aspiration recurrent infections due to aspiration recurrent low blood sugar level recurrent low blood sugar levels recurrent low respiratory tract infection recurrent lower respiratory tract infections recurrent mycobacterium avium complex infection recurrent mycobacterium avium complex infections recurrent sinus and lung infection recurrent sinus and lung infections recurrent upper respiratory tract infection recurrent upper respiratory tract infections red bump on inner eyelid reduce 5 - oxoprolinase level reduce beta - hexosaminidase activity reduce c - peptide level reduce cell surface marker level reduce circulate leukotriene c4 concentration reduce circulate vitamin b6 level reduce coagulation factor v activity reduce collagen 6 in muscle reduce dystrophin staining in muscle reduce erythrocyte pyruvate kinase activity reduce euglobulin clot lysis time reduce fev1 / fvc ratio reduce fibroblast surface marker level reduce granulocyte surface marker level reduce helper t cell proportion reduce lactate dehydrogenase b level reduce leukocyte acid lipase activity reduce lymphocyte proliferation to mitogen reduce lysosomal acid lipase activity reduce mhc ii surface expression reduce motor nerve conduction velocity reduce muscle fiber alpha dystroglycan reduce muscle fiber alpha sarcoglycan reduce muscle fiber beta sarcoglycan reduce muscle fiber delta sarcoglycan reduce muscle fiber gamma sarcoglycan reduce muscle fibre alpha dystroglycan reduce muscle fibre alpha sarcoglycan reduce muscle fibre beta sarcoglycan reduce muscle fibre delta sarcoglycan reduce muscle fibre gamma sarcoglycan reduce proximal interphalangeal joint space reduce respiratory ciliary beating frequency reduce sagittal diameter of vertebra reduce t cell cd40 expression reduce tensile strength of hair reduce terminal : vellus ratio reduce thyroxin - binding globulin reduce von willebrand factor activity reduced 5 - oxoprolinase level reduced beta - hexosaminidase activity reduced c - peptide level reduced cell surface marker level reduced circulating leukotriene c4 concentration reduced circulating vitamin b6 level reduced coagulation factor v activity reduced collagen 6 in muscle reduced dystrophin staining in muscle reduced erythrocyte pyruvate kinase activity reduced euglobulin clot lysis time reduced fev1 / fvc ratio reduced fibroblast surface marker level reduced granulocyte surface marker level reduced helper t cell proportion reduced lactate dehydrogenase b level reduced leukocyte acid lipase activity reduced lymphocyte proliferation to mitogen reduced lysosomal acid lipase activity reduced mhc ii surface expression reduced motor nerve conduction velocity reduced muscle fiber alpha dystroglycan reduced muscle fiber alpha sarcoglycan reduced muscle fiber beta sarcoglycan reduced muscle fiber delta sarcoglycan reduced muscle fiber gamma sarcoglycan reduced muscle fibre alpha dystroglycan reduced muscle fibre alpha sarcoglycan reduced muscle fibre beta sarcoglycan reduced muscle fibre delta sarcoglycan reduced muscle fibre gamma sarcoglycan reduced natural killer cell activity reduced natural killer cell count reduced natural killer cell number reduced number of t cell reduced number of t cells reduced proximal interphalangeal joint space reduced respiratory ciliary beating frequency reduced sagittal diameter of vertebrae reduced t cell cd40 expression reduced tensile strength of hair reduced terminal : vellus ratio reduced thyroxin - binding globulin reduced von willebrand factor activity reduction in b cell number redundant skin fold of neck redundant skin folds of neck redundant skin over the neck refractory anaemia with ringed sideroblast refractory anaemia with ringed sideroblasts refractory anemia with ringed sideroblast refractory anemia with ringed sideroblasts regenerative activity on nerve biopsy renal arteriolar lumen cholesterol emboli renal arteriolar lumen cholesterol embolus renal arteriolar lumen organize thrombus renal arteriolar lumen organized thrombi renal arteriole leukocytic endoarterial hypercellularity renal arteriole lymphocyte endoarterial hypercellularity renal arteriole neutrophil endoarterial hypercellularity renal interstitial calcium phosphate deposit renal interstitial calcium phosphate deposits renal interstitial mononuclear cell infiltration renal interstitial plasma cell infiltration renal intimal / medial arteriolitis renal tubular acidosis , proximal renal tubular basement membrane denudation renal tubular epithelial cell apoptosis renal tubular epithelial cell cast renal tubular epithelial cell casts renal tubular epithelial cell detachment renal tubular epithelial cell hemosiderin renal tubular epithelial cell mitosis renal tubular epithelial cell simplification renal tubular epithelial cell slough renal tubular epithelial cell sloughing renal tubular epithelial cell swell renal tubular epithelial cell swelling renal tubular lysine transport defect renal tubular polyoma virus inclusion renal tubular polyoma virus inclusions renal tubular viral cytopathic change renal tubular viral cytopathic changes resistance to activate protein c resistance to activated protein c respiratory distress necessitate mechanical ventilation respiratory distress necessitating mechanical ventilation respiratory distress require endotracheal intubation respiratory distress require mechanical ventilation respiratory distress requiring endotracheal intubation respiratory distress requiring mechanical ventilation respiratory failure require assist ventilation respiratory failure requiring assisted ventilation respiratory infection in early life respiratory infections in early life restrictive external ophthalmoplegia , bilateral reticular pattern on pulmonary hrct reticulate pigmentation of oral mucosa reticulonodular pattern on pulmonary hrct retinal 'bone corpuscle ' pigmentation retinopathy of prematurity stage 1 retinopathy of prematurity stage 2 retinopathy of prematurity stage 3 retinopathy of prematurity stage 4 retinopathy of prematurity stage 4a retinopathy of prematurity stage 4b retinopathy of prematurity stage 5 retinopathy of prematurity stage 5a retinopathy of prematurity stage 5b retinopathy of prematurity zone i retinopathy of prematurity zone ii retinopathy of prematurity zone iii retrusion of upper jaw bone retrusion of upper jaw bones reverse usual vertebral column curve reversed usual vertebral column curves reye syndrome - like episode reye syndrome - like episodes rickets of the low limb rickets of the lower limbs right - side aortic arch right - side heart failure right - sided aortic arch right - sided heart failure right and leave cleft lip right and leave cleft palate right and left cleft lip right and left cleft palate right bundle - branch block right coronary artery ostial atresia right ventricle to aorta tunnel right ventricular anomalous muscle bundle right ventricular outlet tract obstruction rightward direction of ventricular apex rigidity of the temporomandibular joint rise in pressure inside skull rosette - form glioneuronal neoplasm rosette - form glioneuronal tumor rosette - form glioneuronal tumour rosette - forming glioneuronal neoplasm rosette - forming glioneuronal tumor rosette - forming glioneuronal tumour round and heavy facial feature round middle bone of finger round middle phalanx of finger rounded and heavy facial features rounded end part of bone rounded middle bone of finger rounded middle phalanx of finger rudimentary postaxial polydactyly of hand rudimentary postaxial polydactyly of hands s - shape calf bone s - shaped calf bone s - shaped palpebral fissure s - shaped palpebral fissures saccular descend thoracic aortic aneurysm saccular descending thoracic aortic aneurysm salt and pepper retinal pigmentation sandwich appearance of vertebral bodies sandwich appearance of vertebral body sarcomatoid carcinoma of the tongue scheuermann - like vertebral change scheuermann - like vertebral changes sclerosis of 2nd finger phalanx sclerosis of 2nd toe phalanx sclerosis of 3rd finger phalanx sclerosis of 3rd toe phalanx sclerosis of 4th finger phalanx sclerosis of 4th toe phalanx sclerosis of 5th finger phalanx sclerosis of 5th toe phalanx sclerosis of bone of skull sclerosis of bones of skull sclerosis of distal finger phalanx sclerosis of distal toe phalanx sclerosis of middle finger phalanx sclerosis of middle toe phalanx sclerosis of proximal finger phalanx sclerosis of proximal toe phalanx sclerosis of the 1st metacarpal sclerosis of the 1st metatarsal sclerosis of the carpal bone sclerosis of the carpal bones sclerosis of the skull base sclerotic foci in forearm bones sclerotic foci in hand bones sclerotic foci of humeral diaphysis sclerotic foci of the humerus sclerotic foci within carpal bones sclerotic focus in forearm bone sclerotic focus in hand bone sclerotic focus of humeral diaphysis sclerotic focus of the humerus sclerotic focus within carpal bone scrotum - like labia majora scrotum - like labium majora seal - like bark cough seal - like barking cough secondarily generalise convulsive status epilepticus secondarily generalised convulsive status epilepticus secondarily generalize convulsive status epilepticus secondarily generalized convulsive status epilepticus secondary generalise tonic clonic seizure secondary generalised tonic clonic seizures secondary generalize tonic clonic seizure secondary generalized tonic clonic seizures segmental additional circular muscle coat segmental glomerulosclerosis , perihilar pattern segmental glomerulosclerosis , tip variant segmental peripheral demyelination / remyelination segmentally thicken glomerular basement membrane segmentally thickened glomerular basement membrane seizure , tonic - clonic seizure precipitate by febrile infection seizure precipitated by febrile infection seizures , tonic - clonic sensorineural hearing loss , progressive serum alpha - fetoprotein increase serum alpha - fetoprotein increased set - sun eye phenomenon setting - sun eye phenomenon severe epstein barr virus infection severe growth delay in child severe growth delay in children severe peripheral visual field loss severe postnatal failure to thrive severe reduction in visual acuity severe short - limb dwarfism severe t - cell immunodeficiency severly high blood protein level severly high blood protein levels shoe - shape sella turcica shoe - shaped sella turcica short - segment aganglionic megacolon short / absent middle phalanges short / absent middle phalanx short and small iliac bone short and small iliac bones short bone of big toe short condylar head of mandible short condylar neck of mandible short condylar process of mandible short digit on one side short digits on one side short distal phalanx of finger short distal phalanx of hallux short distal phalanx of toe short fetal thigh bone length short foetal thigh bone length short fourth toe proximal phalanx short innermost 2nd toe bone short innermost big toe bone short innermost little finger bone short innermost pinkie finger bone short innermost pinky finger bone short limb dwarfism , disproportionate short long bone of foot short low third of face short lower third of face short middle 2nd toe bone short middle bone of finger short middle phalanges of toes short middle phalanx of finger short middle phalanx of toe short opening between the eyelid short opening between the eyelids short out part of limb short outer part of limbs short outermost bone of toe short outermost little finger bone short outermost pinkie finger bone short outermost pinky finger bone short p - r interval short phalanx of the thumb short proximal index finger phalanx short proximal phalanges of halluces short proximal phalanges of thumb short proximal phalanx of finger short proximal phalanx of halluces short proximal phalanx of hallux short proximal phalanx of thumb short proximal phalanx of toe short shaft of long bone short stature , disproportionate mesomelic short stature , severe disproportionate short terminal index finger phalanx short thumb with bulbous tip short thumbs with bulbous tips short to absent middle phalanges short to absent middle phalanx shorten long bone of hand shorten pr interval on ekg shortened long bone of hand shortened long bones of hand shortened pr interval on ekg shortening of all finger bone shortening of all finger bones shortening of the achilles tendon shortening of the talar neck shortness of breath at rest shoulder - girdle muscle atrophy shrinking of half of face silver - gray hair color silver - gray hair colour single - lobed right lung single median maxillary central incisor single midline upper front tooth single raphe bicuspid aortic valve single ventricle of indeterminate morphology sinus venosus atrial septal defect skin cancer ( melanoma ) skin tag behind the ear slanting of the palpebral fissure sleep - wake cycle disturbance slender distal phalanx of finger slender innermost bone of finger slender long bone of hand slender long bones of hand slender middle bone of finger slender middle phalanx of finger slender outermost bone of finger slender proximal phalanx of finger slow - grow scalp hair slow - growing scalp hair slow decrease in visual acuity slow rate of hair growth slow speed of hair growth small , cone shape teeth small , cone shaped teeth small , peg shape teeth small , peg shaped teeth small / absent pec muscle small abnormally form shoulder blade small abnormally formed shoulder blade small alveolar process of jaw small chest on one side small condylar head of mandible small condylar neck of mandible small cranium present at birth small distal phalanx of hallux small end part of bone small epiphyses of the fingers small epiphyses of the hallux small epiphyses of the metacarpals small epiphyses of the thumb small epiphyses of the toes small epiphysis of the finger small epiphysis of the hallux small epiphysis of the metacarpal small epiphysis of the thumb small epiphysis of the toe small for gestational age infant small head of thigh bone small head present at birth small innermost thighbone end part small kidney on one side small opening between the eyelid small opening between the eyelids small or absent distal phalanges small or absent distal phalanx small proximal phalanx of hallux small pulp chamber of tooth small skull present at birth small to absent calf bone snowball lesion of corpus callosum soft tissue syndactyly of toe soft tissue syndactyly of toes softening of voice box tissue solitary median maxillary central incisor solitary midline maxillary central incisor sparse , thin scalp hair sparse - absent scalp hair sparse axillary and pubic hair sparse to absent axillary hair sparse to absent body hair sparse to absent pubic hair spasmodic upper - body squeeze spastic paraplegia , low limb spastic paraplegia , lower limb spasticity and rigidity of muscle spasticity and rigidity of muscles spasticity of the facial muscle spasticity of the facial muscles sperm flagella with irregular caliber sperm flagella with irregular calibre sperm flagellum with irregular caliber sperm flagellum with irregular calibre sperm mid - piece anomaly spider vein of the lip spider vein of the mouth spider vein of the tongue spider veins of the lip spider veins of the mouth spider veins of the tongue spina bifida occulta at l5 spina bifida occulta at s1 splayed end part of bone splitting of crown of tooth spondylolisthesis at l5 - s1 spondylolysis and spondylolisthesis of l5 spontaneous milk flow from breast spontaneous rupture of the globe spot in front of eye spots in front of eyes squamous papilloma of the uvula square superior portion of helix squared superior portion of helix squaring of the inferior scapula squaring of the inferior scapulae stage 1 chronic kidney disease stage 2 chronic kidney disease stage 3 chronic kidney disease stage 4 chronic kidney disease stage 5 chronic kidney disease staphylococcus aureus infection , recurrent staphylococcus aureus infections , recurrent status epilepticus with ictal paresis stenosis of the eustachian tube stenosis of the lacrimal punctum steroid - dependent nephrotic syndrome steroid - resistant nephrotic syndrome steroid - sensitive nephrotic syndrome stiffen spot within wrist bone stiffened spots within wrist bones stipple calcification in carpal bone stipple calcification of hand bone stipple calcification of humeral metaphysis stipple calcification of the elbow stipple calcification of the shoulder stipple calcification proximal humeral epiphysis stippled calcification in carpal bones stippled calcification of hand bones stippled calcification of humeral metaphysis stippled calcification of the elbow stippled calcification of the shoulder stippled calcification proximal humeral epiphyses stretch and thin heart muscle stretched and thinned heart muscle subacute deterioration of visual acuity subclinical abnormal liver function test subclinical abnormal liver function tests subcortical band heterotopia anterior predominant subcortical band heterotopia posterior predominant subependymal giant - cell astrocytoma subluxation involve the hip joint subluxation involving the hip joint subluxation of metacarpal phalangeal joint subluxation of metacarpal phalangeal joints subtentorial periventricular white matter hyperdensity sudden loss of muscle tone sudden loss of visual acuity sudden unexpected death in epilepsy super - refractory status epilepticus superficial dermal perivascular inflammatory infiltrate swell of innermost hinge joint swell of proximal interphalangeal joint swelling of innermost hinge joints swelling of proximal interphalangeal joints swiss cheese atrial septal defect swiss cheese ventricular septal defect symmetric spinal nerve root neurofibroma symmetric spinal nerve root neurofibromas symphalagism of the little finger symphalangism affect the 1st metacarpal symphalangism affecting the 1st metacarpal symphalangism of index finger phalanges symphalangism of index finger phalanx symphalangism of the 2nd finger symphalangism of the 3rd finger symphalangism of the 4th finger symphalangism of the 5th finger symphalangism of the ring finger syndactyly 2nd - 3rd finger syndactyly 2nd - 3rd fingers syndactyly toe 2 - 4 syndactyly toes 2 - 4 synostosis involve the 1st metacarpal synostosis involve the 1st metatarsal synostosis involve the 2nd metacarpal synostosis involve the 3rd metacarpal synostosis involve the 4th metacarpal synostosis involve the 5th metacarpal synostosis involve the carpal bone synostosis involve the metacarpal bone synostosis involving the 1st metacarpal synostosis involving the 1st metatarsal synostosis involving the 2nd metacarpal synostosis involving the 3rd metacarpal synostosis involving the 4th metacarpal synostosis involving the 5th metacarpal synostosis involving the carpal bones synostosis involving the metacarpal bones synostosis of carpal / tarsal synostosis of carpals / tarsals synostosis of metacarpal / metatarsal synostosis of metacarpals / metatarsals synostosis of radius and humerus synovial chondromatosis of the elbow sysnostosis of all cranial suture sysnostosis of all cranial sutures taper distal phalanx of finger taper long bone of hand tapered distal phalanges of finger tapered long bones of hand tapetal - like fundal reflex tear - drop shape erythrocyte tear - drop shaped erythrocytes telangiectases , random body distribution telangiectases of palm and sol telangiectases of palms and soles telangiectases produce 'marbled ' skin telangiectases producing 'marbled ' skin telangiectasia of mucosa of nose telangiectasia of nasal mucous membrane telangiectasia of the oral mucosa terminal phalangeal hypoplasia of hand tessier facial cleft number 0 tessier facial cleft number 14 tessier facial cleft number 6 tessier facial cleft number 7 tessier facial cleft number 8 tessier number 0 facial cleft tessier number 1 facial cleft tessier number 10 facial cleft tessier number 11 facial cleft tessier number 12 facial cleft tessier number 13 facial cleft tessier number 14 facial cleft tessier number 2 facial cleft tessier number 3 facial cleft tessier number 30 facial cleft tessier number 4 facial cleft tessier number 5 facial cleft tessier number 6 facial cleft tessier number 7 facial cleft tessier number 8 facial cleft tessier number 9 facial cleft testicular and ovarian tissue present thalamic hypometabolism in fdg pet thiamine - responsive megaloblastic anaemia thiamine - responsive megaloblastic anemia thick tissue around the nose thicken cortex of long bone thicken skin fold of neck thicken skin over the neck thickened cortex of long bone thickened cortex of long bones thickened cortices of long bones thickened skin folds of neck thickened skin over the neck thickening of glomerular capillary wall thickening of palm and sol thickening of palms and soles thickening of the ala nasi thickening of the alae nasi thin , gracile long bone thin , gracile long bones thin diaphyses of long bones thin diaphysis of long bone thin shaft of long bone thinning of the corpus callosum third - degree heart block thumb hypoplastic with bulbous tip thumbs hypoplastic with bulbous tips thyroid - stimulate hormone excess thyroid - stimulating hormone excess thyroidization - type tubular atrophy thyrotoxicosis from ectopic thyroid tissue thyrotoxicosis with toxic multinodular goiter thyrotoxicosis with toxic multinodular goitre tombstone - shape proximal phalanx tombstone - shaped proximal phalanges tongue stick out of mouth tongue sticking out of mouth tonic - clonic status epilepticus tooth mass arch size discrepancy torsion of appendix of testis tortuosity of main retinal vessel tortuosity of main retinal vessels total absence of all teeth total absence of the pericardium total anomalous pulmonary venous connection total anomalous pulmonary venous drainage total anomalous pulmonary venous return total internal and external ophthalmoplegia towhead ( hair color ) transient decrease circulate total igg transient decrease ige in blood transient decrease igg1 in blood transient decrease igg2 in blood transient decrease igg3 in blood transient decrease igg4 in blood transient decreased circulating total igg transient decreased ige in blood transient decreased igg1 in blood transient decreased igg2 in blood transient decreased igg3 in blood transient decreased igg4 in blood transient decreaseed igd in blood transient leukaemia of down syndrome transient leukemia of down syndrome transient unilateral blurring of vision translamellar mucoid extracellular matrix accumulation transposition of the great arteries transposition of the great artery tremor of a body part triangular - shape open mouth triangular - shaped open mouth triangular bone of index finger triangular bones of index finger triangular end part of bone triangular epiphyses of the fingers triangular epiphyses of the hallux triangular epiphyses of the metacarpals triangular epiphyses of the thumb triangular epiphyses of the toes triangular epiphysis of the finger triangular epiphysis of the hallux triangular epiphysis of the metacarpal triangular epiphysis of the thumb triangular epiphysis of the toe triangular proximal index finger phalanx triangular shape 3rd toe bone triangular shape innermost finger bone triangular shape innermost toe bone triangular shape little finger bone triangular shape little toe bone triangular shape pinkie finger bone triangular shape pinkie toe bone triangular shape pinky finger bone triangular shape pinky toe bone triangular shape tip of nose triangular shaped 3rd toe bones triangular shaped innermost finger bone triangular shaped innermost toe bones triangular shaped little finger bones triangular shaped little toe bone triangular shaped pinkie finger bones triangular shaped pinkie toe bone triangular shaped pinky finger bones triangular shaped pinky toe bone triangular shaped tip of nose trophic change relate to pain trophic changes related to pain truncal obesity apparent in childhood tumor of the nervous system tumor of the paranasal sinus tumor of the paranasal sinuses tumor of the spinal cord tumour of the nervous system tumour of the paranasal sinus tumour of the paranasal sinuses tumour of the spinal cord twin to twin transfusion syndrome type 1 muscle fiber atrophy type 1 muscle fiber predominance type 1 muscle fibre atrophy type 1 muscle fibre predominance type 1 transferrin isoform profile type 1 ventricular septal defect type 2 muscle fiber atrophy type 2 muscle fiber predominance type 2 muscle fibre atrophy type 2 muscle fibre predominance type 2 transferrin isoform profile type 2 ventricular septal defect type 3 ventricular septal defect type 4 ventricular septal defect type i muscle fiber predominance type i muscle fibre predominance type i transferrin isoform profile type ii muscle fiber predominance type ii muscle fibre predominance type ii transferrin isoform profile ulnar deviation of index finger ulnar deviation of index fingers ulnar deviation of middle finger ulnar deviation of middle fingers ulnar deviation of the hand ulnar deviation of the hands ulnar deviation of the wrist ulnar dislocation of radial head ulnar dislocation of radial heads unaided visual acuity 0.1 logmar unaided visual acuity 0.2 logmar unaided visual acuity 0.3 logmar unaided visual acuity 0.4 logmar unaided visual acuity 0.5 logmar unaided visual acuity 0.6 logmar unaided visual acuity 0.7 logmar unaided visual acuity 0.8 logmar unaided visual acuity 0.9 logmar unaided visual acuity 1.0 logmar unaided visual acuity 1.1 logmar unaided visual acuity 1.2 logmar unaided visual acuity 1.3 logmar unaided visual acuity 2.0 logmar unaided visual acuity 3.0 logmar unaware of others ' emotion unaware of others ' emotions uncontrollable movement in upper arm uncontrollable movement in upper arms under - depression in adduction underactive thyroid gland from birth underdeveloped / absent pec muscle underdeveloped chest on one side underdeveloped crus of the ear underdeveloped crus of the helix underdeveloped fingernail of little finger underdeveloped fingernail of pinkie finger underdeveloped fingernail of pinky finger underdeveloped inferior crus of antihelix underdeveloped inner large forearm bone underdeveloped kidney on one side underdeveloped out large forearm bone underdeveloped outer large forearm bone underdeveloped superior crus of antihelix underdevelopment of anterior nasal spine underdevelopment of bone of forehead underdevelopment of external reproductive organ underdevelopment of external reproductive organs underdevelopment of the bronical cartilage underdevelopment of tip of nose underdevelopment of upper jaw bone underdevelopment of upper jaw bones underdevelopment of upper limb muscle underdevelopment of upper limb muscles underdevelopment of zygomaticomaxillary bone complex undetectable dark - adapt electroretinogram undetectable dark - adapted electroretinogram undetectable light - adapt electroretinogram undetectable light - adapted electroretinogram unerupted dentition due to mucopolysaccharidoses unerupted teeth due to mucopolysaccharidoses uneven increase in bone density unilateral alveolar cleft of maxilla unusual infection by anatomical site upper - limb metaphyseal irregularity upper teeth stick out forward upper teeth sticking out forward upward slanting of palpebral fissure upward slanting of palpebral fissures urinary excretion of sialylated oligosaccharide urinary excretion of sialylated oligosaccharides urinary tract infection , recurrent urinary tract infections , recurrent usual - type tubular atrophy v - shaped frontal hairline vacuum - assist vaginal delivery vacuum - assisted vaginal delivery valgus position of the calcaneus variability of space between teeth variability of spacing between teeth variable degree of villous atrophy variation in muscle fiber size variation in muscle fibre size varus deformity of humeral neck vary degree of multiple fracture varying degree of multiple fractures vascular abnormalities restricted to skin vascular abnormality restrict to skin vascular malformation of the lip vein of galen aneurysmal malformation venous malformation of the lip ventricular septal defect , muscular ventricular septal defect , perimembranous vertebral tongue - like protrusion vertical deficiency of upper lip vii th cranial nerve palsy villous hypertrophy of choroid plexus viral infection - induced rhabdomyolysis visual acuity no light perception vitelliform - like macular lesion vitelliform - like macular lesions vitelliform - like retinal lesion vitelliform - like retinal lesions wander rash of the tongue wandering rash of the tongue warfarin - induced skin necrosis weakness of extraocular eye movement weakness of muscle of respiration weakness of muscles of respiration weakness of orbicularis oculi muscle weakness of orbicularis oculi muscles weakness of orbicularis oculus muscle weakness of the vocal cord weakness of the vocal cords web 1 - 5 finger web 1st - 2nd finger web 1st - 2nd toe web 1st - 3rd finger web 1st - 3rd toe web 1st - 4th finger web 1st - 5th finger web 1st - 5th toe web 2nd - 3rd finger web 2nd - 4th toe web 2nd - 5th finger web 2nd - 5th toe web 2nd and 3rd toe web 3rd - 4th finger web 3rd - 4th toe web 3rd - 5th toe web 4th - 5th finger web 4th - 5th toe web first and second toe web first through fourth toe web thumb and index finger webbed 1 - 5 fingers webbed 1st - 2nd finger webbed 1st - 2nd toes webbed 1st - 3rd finger webbed 1st - 3rd toes webbed 1st - 4th finger webbed 1st - 5th fingers webbed 1st - 5th toes webbed 2nd - 3rd fingers webbed 2nd - 4th toes webbed 2nd - 5th fingers webbed 2nd - 5th toes webbed 2nd and 3rd toes webbed 3rd - 4th finger webbed 3rd - 4th fingers webbed 3rd - 4th toes webbed 3rd - 5th toes webbed 4th - 5th finger webbed 4th - 5th toes webbed first and second toes webbed first through fourth toes webbed index through ring finger webbed index through ring fingers webbed thumb and index finger weight less than 3rd percentile white matter dysmyelination / demyelination white matter hypointensities on mri wide - cupped costochondral junction wide - cupped costochondral junctions wide - space big toe wide - spaced big toe wide / broad humeral metaphysis wide / broad thumb phalanges wide / broad thumb phalanx wide alveolar process of jaw wide alveolar processes of jaw wide bone of 3rd toe wide bone of big toe wide bone of middle finger wide bones of 3rd toe wide bones of middle finger wide distal metaphysis of femur wide distal phalanx of thumb wide gap between baby teeth wide gap between primary teeth wide gaps between baby teeth wide gaps between primary teeth wide head of thigh bone wide long bone of foot wide long bone of hand wide long bones of hand wide metaphysis of innermost thighbone wide neck of thigh bone wide opening between the eyelid wide opening between the eyelids wide outermost bone of thumb wide outermost pinky finger bone wide shaft of long bone wide tuft of distal phalanx wide tufts of distal phalanges widely patent fontanel and suture widely patent fontanelle and suture widely patent fontanelles and sutures widely patent fontanels and sutures widen outermost bone of limb widened outermost bone of limb widening of cervical spinal canal widening of the sacrosciatic notch xanthoma of the palmar crease xanthomas of the palmar creases yellow - brown discolor teeth yellow - brown discolored teeth yellow - brown discolour teeth yellow - brown discoloured teeth yellow - brown tooth shade yellowish cloudy center of lens yellowish cloudy centre of lens 'curvilinear profile ' ultrastructurally in cell 'curvilinear profiles ' ultrastructurally in cells 'fingerprint profile ' ultrastructurally in cell 'fingerprint profiles ' ultrastructurally in cells 'molar tooth ' sign on image 'molar tooth ' sign on imaging 2 - 3 - layer lissencephaly 2 - 3 - layered lissencephaly 2 - 3 syndactyly of feet 2 - 3 syndactyly of foot 2 - 3 toe cutaneous syndactyly 2 - 4 toe cutaneous syndactyly 3 - 4 finger cutaneous syndactyly abnormal 6 - hydroxypurine phosphoribosyltransferase level abnormal activity of mitochondrial respiratory chain abnormal alanine level in cerebrospinal fluid abnormal alanine levels in cerebrospinal fluid abnormal albumin level in cerebrospinal fluid abnormal albumin levels in cerebrospinal fluid abnormal alveolar type ii pneumocyte morphology abnormal anatomic location of the heart abnormal arginine level in cerebrospinal fluid abnormal arginine levels in cerebrospinal fluid abnormal basal ganglia mri signal intensity abnormal basal ganglion mri signal intensity abnormal best correct visual acuity test abnormal best corrected visual acuity test abnormal blood 5 - methyltetrahydrofolate level abnormal blood monovalent inorganic cation concentration abnormal blood transition element cation concentration abnormal brain choline level by mr abnormal brain choline level by mrs abnormal brain creatine level by mr abnormal brain creatine level by mrs abnormal brain fdg positron emission tomography abnormal brain lactate level by mr abnormal brain lactate level by mrs abnormal brainstem auditory - evoked potential abnormal brainstem auditory - evoked potentials abnormal c - reactive protein level abnormal ca2+ po4 regulate hormone level abnormal ca2+ po4 regulating hormone level abnormal calcification of the carpal bone abnormal calcification of the carpal bones abnormal calcification of the wrist bone abnormal calcification of the wrist bones abnormal cardiac magnetic resonance imaging find abnormal cardiac magnetic resonance imaging finding abnormal carnosine level in cerebrospinal fluid abnormal carnosine levels in cerebrospinal fluid abnormal cd25 upregulation upon tcr activation abnormal cd4+cd25+ regulatory t cell proportion abnormal cd69 upregulation upon tcr activation abnormal cellular composition of bronchoalveolar fluid abnormal central response of multifocal electroretinogram abnormal cerebrospinal fluid amino acid level abnormal circulate 18 - hydroxycorticosterone level abnormal circulate amino sulfonic acid concentration abnormal circulate aromatic amino acid concentration abnormal circulate beta - crosslaps level abnormal circulate beta - ctx level abnormal circulate collagen degradation product concentration abnormal circulate fatty - acid concentration abnormal circulate free fatty acid concentration abnormal circulate free fatty acid level abnormal circulate n - nicotinoylglycine level abnormal circulate organic amino compound concentration abnormal circulate proteinogenic amino acid concentration abnormal circulate sulfur amino acid concentration abnormal circulate sulphur amino acid concentration abnormal circulating 18 - hydroxycorticosterone level abnormal circulating amino sulfonic acid concentration abnormal circulating aromatic amino acid concentration abnormal circulating beta - crosslaps level abnormal circulating beta - ctx level abnormal circulating collagen degradation product concentration abnormal circulating fatty - acid concentration abnormal circulating free fatty acid concentration abnormal circulating free fatty acid level abnormal circulating n - nicotinoylglycine level abnormal circulating organic amino compound concentration abnormal circulating proteinogenic amino acid concentration abnormal circulating sulfur amino acid concentration abnormal circulating sulphur amino acid concentration abnormal circulating unsaturated fatty acid concentration abnormal circulation phospho - ck concentration abnormal citrulline level in cerebrospinal fluid abnormal citrulline levels in cerebrospinal fluid abnormal co2 level in cord blood abnormal color of the oral mucosa abnormal colour of the oral mucosa abnormal complex n - glycan level abnormal concentration of t - antigen abnormal connection between rectum and vagina abnormal connection between trachea and esophagus abnormal connection between trachea and oesophagus abnormal connection of the cardiac segment abnormal connection of the cardiac segments abnormal connexion of the cardiac segment abnormal connexion of the cardiac segments abnormal cortical peritubular capillary lumen morphology abnormal cortical radial artery endothelium morphology abnormal cortical radial artery lumen morphology abnormal csf / serum albumin ratio abnormal csf alpha - aminobutyrate concentration abnormal csf aromatic amino acid concentration abnormal diffusion weight cerebral mri morphology abnormal diffusion weighted cerebral mri morphology abnormal distal phalanx morphology of finger abnormal electrophysiology of sinoatrial node origin abnormal esterified to free carnitine ratio abnormal esterify to free carnitine ratio abnormal ethanolamine level in the blood abnormal ethanolamine levels in the blood abnormal facility in oppose the shoulder abnormal facility in opposing the shoulders abnormal femoral neck / head morphology abnormal form of the vertebral bodies abnormal form of the vertebral body abnormal foveal morphology on macular oct abnormal foveal pit on macular oct abnormal glomerular parietal epithelial cell morphology abnormal glomerular visceral epithelial cell morphology abnormal glutamine level in cerebrospinal fluid abnormal glutamine levels in cerebrospinal fluid abnormal glycine level in cerebrospinal fluid abnormal glycine levels in cerebrospinal fluid abnormal histidine level in cerebrospinal fluid abnormal histidine levels in cerebrospinal fluid abnormal homocarnosine level in cerebrospinal fluid abnormal homocarnosine levels in cerebrospinal fluid abnormal hypoxanthine - guanine phosphoribosyltransferase level abnormal immunoglobulin level in body fluid abnormal innermost bone of middle finger abnormal innermost bone of ring finger abnormal isoelectric focusing of serum transferrin abnormal isoleucine level in cerebrospinal fluid abnormal isoleucine levels in cerebrospinal fluid abnormal kidney arterial blood vessel morphology abnormal leave ventricular outflow tract morphology abnormal left ventricular outflow tract morphology abnormal leucine level in cerebrospinal fluid abnormal leucine levels in cerebrospinal fluid abnormal level of alpha - fetoprotein abnormal levels of alpha - fetoprotein abnormal light - adapt flicker electroretinogram abnormal light - adapt flicker erg abnormal light - adapted flicker electroretinogram abnormal light - adapted flicker erg abnormal liver function test during pregnancy abnormal liver function tests during pregnancy abnormal lysine level in cerebrospinal fluid abnormal lysine levels in cerebrospinal fluid abnormal mannose - bind protein level abnormal mannose - binding protein level abnormal maturation of the hand bone abnormal maturation of the hand bones abnormal maturation of the pelvis bone abnormal maturation of the pubic bone abnormal medullary peritubular capillary lumen morphology abnormal metabolic brain imaging by mr abnormal metabolic brain imaging by mrs abnormal methionine level in cerebrospinal fluid abnormal methionine levels in cerebrospinal fluid abnormal middle bone of ring finger abnormal morphology of bowman 's capsule abnormal morphology of dorsum of nose abnormal morphology of erythroid progenitor cell abnormal morphology of female internal genitalia abnormal morphology of left ventricular trabecula abnormal morphology of left ventricular trabeculae abnormal morphology of musculature of pharynx abnormal morphology of right ventricular trabecula abnormal morphology of right ventricular trabeculae abnormal morphology of the abdominal musculature abnormal morphology of the cerebellar cortex abnormal morphology of the chest musculature abnormal morphology of the choroidal vasculature abnormal morphology of the conjunctiva vasculature abnormal morphology of the conjunctival vasculature abnormal morphology of the frontal region abnormal morphology of the great vessel abnormal morphology of the great vessels abnormal morphology of the limbic system abnormal morphology of the olfactory bulb abnormal morphology of the palpebral fissure abnormal morphology of the pelvis musculature abnormal morphology of the shoulder musculature abnormal muscle fiber - type distribution abnormal muscle fiber calpain - 3 abnormal muscle fiber laminin beta 1 abnormal muscle fibre calpain - 3 abnormal muscle fibre laminin beta 1 abnormal number of natural killer cell abnormal number of natural killer cells abnormal o2 level in cord blood abnormal oct - measure foveal thickness abnormal oct - measure macular thickness abnormal oct - measured foveal thickness abnormal oct - measured macular thickness abnormal ornithine level in cerebrospinal fluid abnormal ornithine levels in cerebrospinal fluid abnormal ossification of the pubic bone abnormal ossification of the trapezoid bone abnormal oxygen level in cord blood abnormal paracentral response of multifocal electroretinogram abnormal peripheral nervous system synaptic transmission abnormal phenylalanine level in cerebrospinal fluid abnormal phenylalanine levels in cerebrospinal fluid abnormal pigmentation of oral mucous membrane abnormal pigmentation of the oral mucosa abnormal platelet atp dense granule secretion abnormal position of the lacrimal punctum abnormal proportion of cd19+cd27+igd - cell abnormal proportion of cd19+cd27+igd - cells abnormal proportion of cd4+ t cell abnormal proportion of cd4+ t cells abnormal proportion of cd8+ t cell abnormal proportion of cd8+ t cells abnormal proportion of exhausted t cell abnormal proportion of exhausted t cells abnormal proportion of gammadelta t cell abnormal proportion of gammadelta t cells abnormal proportion of immature b cell abnormal proportion of immature b cells abnormal proportion of memory b cell abnormal proportion of memory b cells abnormal proportion of memory t cell abnormal proportion of memory t cells abnormal proportion of naive b cell abnormal proportion of naive b cells abnormal proportion of naive t cell abnormal proportion of naive t cells abnormal proportion of transitional b cell abnormal proportion of transitional b cells abnormal protein n - link glycosylation abnormal protein n - linked glycosylation abnormal protein o - link glycosylation abnormal protein o - linked glycosylation abnormal pulmonary type ii cell morphology abnormal radioactive iodine uptake test result abnormal response to acth stimulation test abnormal response to corticotropin stimulation test abnormal response to crh stimulation test abnormal response to endocrine stimulation test abnormal response to glucagon stimulation test abnormal response to gnrh stimulation test abnormal response to hcg stimulation test abnormal response to insulin tolerance test abnormal retinal morphology on macular oct abnormal retinal nerve fiber layer morphology abnormal retinal nerve fibre layer morphology abnormal retinol - binding protein level abnormal serine level in cerebrospinal fluid abnormal serine levels in cerebrospinal fluid abnormal serum interferon - gamma level abnormal shape / structure of ear abnormal shape of a reproductive cell abnormal shape of of forearm bone abnormal shape of pelvic girdle bone abnormal shape of small intestinal villus abnormal shape of the digestive system abnormal shape of the frontal region abnormal shape of the palpebral fissure abnormal shape of upper motor neuron abnormal single motor unit action potential abnormal size of the dental root abnormal size of the palpebral fissure abnormal size of the palpebral fissures abnormal skin morphology of the palm abnormal sperm mid - piece morphology abnormal superoxide : superoxide oxidoreductase activity abnormal suspensory ligament of lens morphology abnormal terminal phalanges of the hand abnormal terminal phalanx of the hand abnormal threonine level in cerebrospinal fluid abnormal threonine levels in cerebrospinal fluid abnormal thyroid - stimulate hormone level abnormal thyroid - stimulating hormone level abnormal tryptophan level in cerebrospinal fluid abnormal tryptophan levels in cerebrospinal fluid abnormal tyrosine level in cerebrospinal fluid abnormal tyrosine levels in cerebrospinal fluid abnormal upper to lower segment ratio abnormal urinary 1 - methylhistidine concentration abnormal urinary 2 - oxoglutarate level abnormal urinary 3 - methylhistidine level abnormal urinary amino - acid finding abnormal urinary amino - acid findings abnormal urinary n - hexanoylglycine level abnormal urinary n - hexanoylglycine levels abnormal urine alpha - ketoglutarate concentration abnormal valine level in cerebrospinal fluid abnormal valine levels in cerebrospinal fluid abnormal vasculature of the conjunctiva morphology abnormal von willebrand factor multimer distribution abnormal wide portion of elbow bone abnormal wide portion of innermost thighbone abnormalities of placenta or umbilical cord abnormalities of the arcuate arterial lumen abnormalities of the glomerular capillary wall abnormalities of the interlobular arterial endothelium abnormality morphology of the macular vasculature abnormality of acid - base homeostasis abnormality of alveolar process of jaw abnormality of alveolar processes of jaw abnormality of anterior crus of antihelix abnormality of artery of low lip abnormality of artery of lower lip abnormality of b - vitamin metabolism abnormality of blood vessel of head abnormality of blood vessel of neck abnormality of bone calcification of calvarium abnormality of bone calcification of cranium abnormality of bone calcification of skull abnormality of bone formation of calvarium abnormality of bone formation of cranium abnormality of bone marrow cell morphology abnormality of bone marrow stromal cell abnormality of bone marrow stromal cells abnormality of bone mineralisation and ossification abnormality of bone mineralization of calvarium abnormality of bone mineralization of cranium abnormality of bone mineralization of skull abnormality of bony orbit of skull abnormality of cartilage of external ear abnormality of cartilage of nasal septum abnormality of central nervous system electrophysiology abnormality of central somatosensory evoke potential abnormality of central somatosensory evoked potentials abnormality of circulate adrenocorticotropic hormone level abnormality of circulate beta2 microglobulin level abnormality of circulating adrenocorticotropic hormone level abnormality of circulating beta2 microglobulin level abnormality of color of front teeth abnormality of color of lateral incisor abnormality of colour of front teeth abnormality of colour of lateral incisor abnormality of depressor anguli oris muscle abnormality of depressor labii inferioris muscle abnormality of divalent inorganic cation homeostasis abnormality of ductus venosus blood flow abnormality of end part of shinbone abnormality of enteric nervous system morphology abnormality of extrinsic muscle of tongue abnormality of frontal process of maxilla abnormality of hard tissue of teeth abnormality of hard tissues of teeth abnormality of immune serum protein physiology abnormality of inferior crus of antihelix abnormality of inferior oblique extraocular muscle abnormality of inferior rectus extraocular muscle abnormality of infra - orbital nerve abnormality of inside lining of cheek abnormality of intestinal smooth muscle morphology abnormality of intrinsic muscle of tongue abnormality of lateral crico - arytenoid abnormality of levator veli palatini muscle abnormality of low - limb metaphyses abnormality of low limb epiphysis morphology abnormality of lower - limb metaphyses abnormality of lower limb epiphysis morphology abnormality of middle 2nd finger phalanx abnormality of middle 4th toe bone abnormality of monovalent inorganic cation homeostasis abnormality of mucous membrane of nose abnormality of muscle of facial expression abnormality of muscle of the pharynx abnormality of muscles of the pharynx abnormality of musculature of facial expression abnormality of musculature of soft palate abnormality of musculature of the nose abnormality of natural killer cell count abnormality of neutrophil morphology in csf abnormality of pace of hair growth abnormality of pattern visual evoke potential abnormality of pattern visual evoked potentials abnormality of pelvic girdle bone morphology abnormality of peripheral nervous system electrophysiology abnormality of peripheral somatosensory evoke potential abnormality of peripheral somatosensory evoked potentials abnormality of placenta or umbilical cord abnormality of posterior crus of antihelix abnormality of prenatal development or birth abnormality of renin - angiotensin system abnormality of serum amino acid level abnormality of serum amino acid levels abnormality of shade of lateral incisor abnormality of shape of adult molar abnormality of shape of baby molar abnormality of shape of permanent molar abnormality of shape of primary molar abnormality of skeletal muscle fiber size abnormality of skeletal muscle fibre size abnormality of small intestinal villus morphology abnormality of spacing of front teeth abnormality of speed of hair growth abnormality of superior crus of antihelix abnormality of tensor veli palatini muscle abnormality of terminal index finger phalanx abnormality of the 2nd toe bone abnormality of the alternative complement pathway abnormality of the anterior horn cell abnormality of the anterior horn cells abnormality of the antrum of highmore abnormality of the arcuate arterial lumen abnormality of the autonomic nervous system abnormality of the bony eye socket abnormality of the brachial nerve plexus abnormality of the brainstem white matter abnormality of the central nervous system abnormality of the cerebral arterial circle abnormality of the cerebral blood vessel abnormality of the cerebral blood vessels abnormality of the cerebral venous sinus abnormality of the cerebral venous sinuses abnormality of the cerebral white matter abnormality of the cervical blood vessel abnormality of the cervical blood vessels abnormality of the common bile duct abnormality of the common carotid artery abnormality of the common coagulation pathway abnormality of the common tendinous ring abnormality of the distal femoral epiphysis abnormality of the distal fibular epiphysis abnormality of the distal humeral epiphysis abnormality of the distal radial epiphysis abnormality of the distal tibial epiphysis abnormality of the distal ulnar epiphysis abnormality of the dorsum of nose abnormality of the eighth cranial nerve abnormality of the eleventh cranial nerve abnormality of the fetal cardiovascular system abnormality of the fetal circulation system abnormality of the fifth cranial nerve abnormality of the fifth metatarsal bone abnormality of the first metatarsal bone abnormality of the floor of mouth abnormality of the foetal cardiovascular system abnormality of the foetal circulation system abnormality of the forehead soft spot abnormality of the fourth metatarsal bone abnormality of the glomerular capillary wall abnormality of the great sacrosciatic notch abnormality of the greater sacrosciatic notch abnormality of the humeral epiphyseal plate abnormality of the inferior labial artery abnormality of the inferior oblique muscle abnormality of the inner vaginal lip abnormality of the inner vaginal lips abnormality of the interlobular arterial endothelium abnormality of the internal acoustic meatus abnormality of the internal auditory canal abnormality of the intrahepatic bile duct abnormality of the line of schwalbe abnormality of the little finger bone abnormality of the little toe bone abnormality of the little toe bones abnormality of the low jaw bone abnormality of the low urinary tract abnormality of the lower jaw bone abnormality of the lower urinary tract abnormality of the lumbosacral nerve plexus abnormality of the lung blood vessel abnormality of the lung blood vessels abnormality of the middle ear ossicle abnormality of the middle ear ossicles abnormality of the middle finger bone abnormality of the middle finger bones abnormality of the nasal alar cartilage abnormality of the o naviculare pedis abnormality of the os naviculare pedis abnormality of the outermost finger bone abnormality of the pancreatic islet cell abnormality of the pancreatic islet cells abnormality of the peripheral nervous system abnormality of the periventricular white matter abnormality of the pinkie finger bone abnormality of the pinkie toe bone abnormality of the pinkie toe bones abnormality of the pinky finger bone abnormality of the pinky toe bone abnormality of the pinky toe bones abnormality of the posterior cranial fossa abnormality of the primary palate bone abnormality of the proximal femoral epiphysis abnormality of the proximal fibular epiphysis abnormality of the proximal humeral epiphysis abnormality of the proximal radial epiphysis abnormality of the proximal tibial epiphysis abnormality of the proximal ulnar epiphysis abnormality of the renal collecting system abnormality of the retinal pigment epithelium abnormality of the second metatarsal bone abnormality of the sense of smell abnormality of the seventh cranial nerve abnormality of the shape of calvarium abnormality of the shape of cranium abnormality of the shoulder girdle musculature abnormality of the sixth cranial nerve abnormality of the somatic nervous system abnormality of the spinal dura mater abnormality of the superior cerebellar peduncle abnormality of the systemic arterial tree abnormality of the third metatarsal bone abnormality of the twelfth cranial nerve abnormality of the upper jaw bone abnormality of the upper jaw bones abnormality of the upper jaw sinus abnormality of the upper respiratory tract abnormality of the upper urinary tract abnormality of the urinary system physiology abnormality of the vertebral spinous process abnormality of the vertebral spinous processes abnormality of the viiith cranial nerve abnormality of the vitamin b12 metabolism abnormality of the vitamin b3 metabolism abnormality of transition element cation homeostasis abnormality of tumor necrosis factor secretion abnormality of tumour necrosis factor secretion abnormality of umbilical vein blood flow abnormality of upper limb epiphysis morphology abnormality of urinary uric acid concentration abnormality of urine alpha ketoglutarate concentration abnormally small eyeball on both side abnormally small eyeball on both sides abnormally small eyeball on one side absence of adult mandibular lateral incisor absence of cd4+cd25+ t regulatory cell absence of cd4+cd25+ t regulatory cells absence of deciduous mandibular central incisor absence of deciduous mandibular lateral incisor absence of deciduous maxillary central incisor absence of deciduous maxillary lateral incisor absence of delayed hypersensitivity skin test absence of low front baby tooth absence of lower front baby tooth absence of lutheran antigen on erythrocyte absence of lutheran antigen on erythrocytes absence of lymph node germinal center absence of lymph node germinal centre absence of p wave on electrocardiography absence of permanent low central incisor absence of permanent low front tooth absence of permanent lower central incisor absence of permanent lower front tooth absence of permanent mandibular central incisor absence of permanent mandibular lateral incisor absence of permanent maxillary central incisor absence of permanent maxillary lateral incisor absence of permanent upper central incisor absence of permanent upper front tooth absence of primary mandibular central incisor absence of primary mandibular lateral incisor absence of primary maxillary central incisor absence of primary maxillary lateral incisor absence of tear in the eye absence of tears in the eyes absence of the primary palate bone absence of the third cerebral ventricle absence of upper front baby tooth absent / shorten out dynein arm absent / shortened outer dynein arms absent / small abdominal wall muscle absent / small abdominal wall muscles absent / small big toe bone absent / small cerebral white matter absent / small index finger bone absent / small innermost thumb bone absent / small innermost toe bone absent / small innermost toe bones absent / small little finger bone absent / small little finger bones absent / small little toe bone absent / small little toe bones absent / small low limb bone absent / small lower limb bones absent / small middle finger bone absent / small muscle of extremity absent / small muscles of extremities absent / small outermost thorax bone absent / small outermost thumb bone absent / small pinkie finger bone absent / small pinkie finger bones absent / small pinkie toe bone absent / small pinkie toe bones absent / small pinky finger bone absent / small pinky finger bones absent / small pinky toe bone absent / small pinky toe bones absent / small ring finger bone absent / small ring finger bones absent / small upper arm muscle absent / small upper arm muscles absent / small upper limb muscle absent / small upper limb muscles absent / underdevelop abdominal wall muscle absent / underdevelop big toe bone absent / underdevelop index finger bone absent / underdevelop innermost thumb bone absent / underdevelop innermost toe bone absent / underdevelop low limb bone absent / underdevelop middle finger bone absent / underdevelop muscle of extremity absent / underdevelop outermost thumb bone absent / underdevelop pinky finger bone absent / underdevelop pinky toe bone absent / underdevelop ring finger bone absent / underdevelop upper arm muscle absent / underdevelop upper limb muscle absent / underdeveloped abdominal wall muscles absent / underdeveloped big toe bone absent / underdeveloped cerebral white matter absent / underdeveloped index finger bone absent / underdeveloped innermost thumb bone absent / underdeveloped innermost toe bones absent / underdeveloped lower limb bones absent / underdeveloped middle finger bone absent / underdeveloped muscles of extremities absent / underdeveloped outermost thumb bone absent / underdeveloped pinky finger bones absent / underdeveloped pinky toe bones absent / underdeveloped ring finger bone absent / underdeveloped ring finger bones absent / underdeveloped upper arm muscles absent / underdeveloped upper limb muscles absent 1st long bone of foot absent 1st long bone of hand absent 2nd long bone of hand absent 3rd long bone of hand absent 4th long bone of hand absent 5th long bone of foot absent 5th long bone of hand absent anterior chamber of the eye absent birbeck granule in langerhans cell absent birbeck granules in langerhans cells absent bone of the 4th toe absent bone of the low limb absent bone of the upper limb absent bones of the 4th toe absent bones of the lower limbs absent bones of the upper limbs absent bronchoalveolar surfactant - protein c absent cutis congenita over parietal area absent distal phalanges of the hand absent distal phalanx of the hand absent end part of index finger absent epiphyses of the 2nd finger absent epiphyses of the 2nd toe absent epiphyses of the 3rd finger absent epiphyses of the 3rd toe absent epiphyses of the 4th finger absent epiphyses of the 4th toe absent epiphyses of the 5th finger absent epiphyses of the 5th toe absent epiphysis of the 1st metacarpal absent epiphysis of the 1st metatarsal absent epiphysis of the 2nd finger absent epiphysis of the 2nd toe absent epiphysis of the 3rd finger absent epiphysis of the 3rd toe absent epiphysis of the 4th finger absent epiphysis of the 4th toe absent epiphysis of the 5th finger absent epiphysis of the 5th toe absent finger bone of the hand absent fourth finger distal interphalangeal crease absent inner and outer dynein arm absent inner and outer dynein arms absent innermost bone of big toe absent innermost bone of index finger absent innermost bone of little finger absent innermost bone of middle finger absent innermost bone of pinkie finger absent innermost bone of pinky finger absent long bone in upper arm absent merosin stain in muscle biopsy absent merosin staining in muscle biopsy absent middle bone of 2nd toe absent middle bone of 4th finger absent middle bone of 4th toe absent middle bone of index finger absent middle bone of little finger absent middle bone of little toe absent middle bone of middle finger absent middle bone of pinkie finger absent middle bone of pinkie toe absent middle bone of pinky finger absent middle bone of pinky toe absent middle phalanx of 2nd finger absent middle phalanx of 3rd finger absent middle phalanx of 4th finger absent middle phalanx of 5th finger absent middle phalanx of index finger absent middle phalanx of middle finger absent muscle fiber calpain - 3 absent muscle fiber laminin alpha 2 absent muscle fibre calpain - 3 absent muscle fibre laminin alpha 2 absent or decrease deep tendon reflex absent or decreased deep tendon reflexes absent or minimally ossified vertebral bodies absent or minimally ossified vertebral body absent ossification / absence of radius absent ossification of capital femoral epiphysis absent ossification of cervical vertebral bodies absent ossification of cervical vertebral body absent ossification of femoral capital epiphyses absent ossification of femoral capital epiphysis absent ossification of the humeral epiphyses absent ossification of the humeral epiphysis absent ossification of thoracic vertebral bodies absent ossification of thoracic vertebral body absent outermost bone of big toe absent outermost bone of ring finger absent outermost bone of the toe absent outermost bone of the toes absent pigmentation of the ventral chest absent respiratory ciliary axoneme radial spoke absent respiratory ciliary axoneme radial spokes absent sperm axoneme central pair complex accumulation of fluid in the abdomen accumulation of hemosiderin laden alveolar macrophage accumulation of hemosiderin laden alveolar macrophages acro - osteolysis of distal phalanges acro - osteolysis of distal phalanx acro - osteolysis of index finger acroosteolysis of distal phalanges of feet acroosteolysis of distal phalanx of foot adhesion of upper and low lip adhesion of upper and lower lips adrenocorticotropic hormone - resistant adrenal insufficiency advanced maturation of the hand bone advanced maturation of the hand bones advanced maturation of the humeral epiphyses advanced maturation of the humeral epiphysis advanced ossification of the hand bone advanced ossification of the hand bones advanced ossification of the humeral epiphysis advanced pneumatization of the mastoid process age - related posterior subcapsular cataract agenesis of adult mandibular central incisor agenesis of adult maxillary central incisor agenesis of condylar head of mandible agenesis of condylar neck of mandible agenesis of condylar process of mandible agenesis of deciduous low central incisor agenesis of deciduous lower central incisor agenesis of deciduous mandibular lateral incisor agenesis of deciduous maxillary central incisor agenesis of deciduous maxillary lateral incisor agenesis of first permanent molar tooth agenesis of permanent mandibular central incisor agenesis of permanent mandibular lateral incisor agenesis of permanent maxillary central incisor agenesis of permanent maxillary lateral incisor agenesis of permanent upper lateral incisor agenesis of primary low central incisor agenesis of primary lower central incisor agenesis of primary mandibular central incisor agenesis of primary mandibular lateral incisor agenesis of primary maxillary central incisor agenesis of primary maxillary lateral incisor agenesis of the cerebral white matter allergy to plant base food allergen allergy to plant based food allergens alternate radiolucent and radiodense metaphyseal line alternating radiolucent and radiodense metaphyseal lines amine precursor uptake and decarboxylation tumour amine precursor uptake and decarboxylation tumours amyloid deposition in the vitreous humor amyloid deposition in the vitreous humour aneurysm of the ascend tubular aorta aneurysm of the ascending tubular aorta aneurysm of the membranous ventricular septum aneurysm of the muscular ventricular septum angioectasia of mucous membrane of nose angioectasia of the oral mucous membrane angulate long bone in upper arm angulated long bone in upper arm anomalous branch of internal carotid artery anomalous branches of internal carotid artery anomalous origin of left subclavian artery anomaly of cartilage of nasal septum anomaly of the anterior horn cell anomaly of the anterior horn cells anomaly of the bone marrow cell anomaly of the bone marrow cells anomaly of the limb diaphyses morphology anomaly of the upper limb diaphyses anomaly of the upper limb diaphysis anomaly of the upper lip vermillion anterior / lateral radial head dislocation anterior beaking of low thoracic vertebra anterior beaking of lower thoracic vertebrae anterior displacement of the papillary muscle anterior displacement of the papillary muscles anterior synechiae of the anterior chamber anti - anna - 1 antibody anti - anna - 2 antibody anti - aquaporin 4 antibody positivity anti - asialoglycoprotein receptor antibody positivity anti - citrullinated protein antibody positivity anti - cv2 / crmp5 antibody anti - desmoplakin i antibody positivity anti - desmoplakin ii antibody positivity anti - epidermal transglutaminase antibody positivity anti - gbm - antibody positivity anti - homer - 3 antibody anti - laminin 332 antibody positivity anti - laminin 5 antibody positivity anti - laminin 6 antibody positivity anti - laminin gamma1 antibody positivity anti - lkm - 1 positive anti - mitochondrial m2 antibody positivity anti - neurexin - 3alpha antibody anti - nmda receptor antibody positivity anti - nucleoporin 62 antibody positivity anti - proteinase 3 antibody positivity anti - pyruvate dehydrogenase antibody positivity anti - septin - 5 antibody anti - sj / itpr1 antibody anti - sm - autoantibody positivity anti - smooth muscle antibody positivity anti - thyroid peroxidase antibody positivity anti - tissue transglutaminase antibody positivity anti - topoisomerase i antibody positivity anti - tr / dner antibody anti - transglutaminase 2 antibody positivity anti - trim9 / trim67 antibody anti - type vii collagen antibody anti - u3 ribonucleoprotein antibody positivity antihelix , inferior crus , broad antihelix , inferior crus , prominent antihelix , inferior crus , underdevelop antihelix , inferior crus , underdeveloped aortic smooth muscle cell nuclei loss apical hypertrabeculation of the left ventricle aplasia / hypoplasia affect the eye aplasia / hypoplasia affect the fundus aplasia / hypoplasia affect the uvea aplasia / hypoplasia affecting the eye aplasia / hypoplasia affecting the fundus aplasia / hypoplasia affecting the uvea aplasia / hypoplasia involve forearm bone aplasia / hypoplasia involve the cns aplasia / hypoplasia involve the nose aplasia / hypoplasia involve the pelvis aplasia / hypoplasia involve the sinus aplasia / hypoplasia involve the skeleton aplasia / hypoplasia involving forearm bones aplasia / hypoplasia involving the cns aplasia / hypoplasia involving the nose aplasia / hypoplasia involving the pelvis aplasia / hypoplasia involving the sinuses aplasia / hypoplasia involving the skeleton aplasia / hypoplasia of metatarsal bone aplasia / hypoplasia of metatarsal bones aplasia / hypoplasia of middle phalanges aplasia / hypoplasia of middle phalanx aplasia / hypoplasia of palatine uvula aplasia / hypoplasia of the biceps aplasia / hypoplasia of the bladder aplasia / hypoplasia of the brainstem aplasia / hypoplasia of the breast aplasia / hypoplasia of the breasts aplasia / hypoplasia of the cerebellum aplasia / hypoplasia of the cerebrum aplasia / hypoplasia of the clavicle aplasia / hypoplasia of the clavicles aplasia / hypoplasia of the clitoris aplasia / hypoplasia of the cochlea aplasia / hypoplasia of the colon aplasia / hypoplasia of the diaphragm aplasia / hypoplasia of the ear aplasia / hypoplasia of the earlobe aplasia / hypoplasia of the earlobes aplasia / hypoplasia of the epiglottis aplasia / hypoplasia of the extremities aplasia / hypoplasia of the extremity aplasia / hypoplasia of the eyebrow aplasia / hypoplasia of the eyelid aplasia / hypoplasia of the femur aplasia / hypoplasia of the fibula aplasia / hypoplasia of the fovea aplasia / hypoplasia of the gallbladder aplasia / hypoplasia of the hallux aplasia / hypoplasia of the humerus aplasia / hypoplasia of the iris aplasia / hypoplasia of the lens aplasia / hypoplasia of the lung aplasia / hypoplasia of the lungs aplasia / hypoplasia of the macula aplasia / hypoplasia of the mandible aplasia / hypoplasia of the maxilla aplasia / hypoplasia of the nail aplasia / hypoplasia of the nails aplasia / hypoplasia of the nares aplasia / hypoplasia of the naris aplasia / hypoplasia of the nipple aplasia / hypoplasia of the nipples aplasia / hypoplasia of the ovary aplasia / hypoplasia of the pancreas aplasia / hypoplasia of the patella aplasia / hypoplasia of the premaxilla aplasia / hypoplasia of the quadriceps aplasia / hypoplasia of the radius aplasia / hypoplasia of the retina aplasia / hypoplasia of the rib aplasia / hypoplasia of the ribs aplasia / hypoplasia of the sacrum aplasia / hypoplasia of the scapula aplasia / hypoplasia of the scapulae aplasia / hypoplasia of the skin aplasia / hypoplasia of the spleen aplasia / hypoplasia of the sternum aplasia / hypoplasia of the testes aplasia / hypoplasia of the testis aplasia / hypoplasia of the thumb aplasia / hypoplasia of the thymus aplasia / hypoplasia of the tibia aplasia / hypoplasia of the tongue aplasia / hypoplasia of the tragus aplasia / hypoplasia of the triceps aplasia / hypoplasia of the ulna aplasia / hypoplasia of the uterus aplasia / hypoplasia of the uvula aplasia / hypoplasia of the vagina aplasia / hypoplasia of the vertebra aplasia / hypoplasia of the vertebrae aplasia cutis congenita over parietal area aplasia involve bone of the extremity aplasia involving bones of the extremities aplasia of the abdominal wall musculature aplasia of the distal interphalangeal crease aplasia of the distal interphalangeal creases aplasia of the eccrine sweat gland aplasia of the eccrine sweat glands aplasia of the eighth cranial nerve aplasia of the fifth metatarsal bone aplasia of the low jaw bone aplasia of the lower jaw bone aplasia of the middle ear ossicle aplasia of the middle ear ossicles aplasia of the pectoralis major muscle aplasia of the primary palate bone aplasia of the upper jaw bone aplasia of the upper jaw bones aplasia of the vestibular nerve . arcuate artery endoarterial foam cell hypercellularity arcuate artery intima / media amyloidosis arcuate artery intima / media arteriitis arcuate artery intima / media arteriosclerosis arcuate artery intima / media necrosis arcuate artery intima / medium amyloidosis arcuate artery intima / medium arteriitis arcuate artery intima / medium arteriosclerosis arcuate artery intima / medium necrosis arcuate intimal / medial granulomatous venulitis arcuate vein intima / medial amyloidosis arcuate vein medial / intimal necrosis arnold - chiari type i malformation asymmetry of the size of ear asymmetry of the size of ears atresia of the external auditory canal atresia of the external auditory canals atrial septal defect , primum type atrioventricular canal type ventricular septal defect atrophy / degeneration affect the brainstem atrophy / degeneration affect the cerebellum atrophy / degeneration affect the cerebrum atrophy / degeneration affect the cns atrophy / degeneration affecting the brainstem atrophy / degeneration affecting the cerebellum atrophy / degeneration affecting the cerebrum atrophy / degeneration affecting the cns atrophy / hypoplasia of the cerebellum atrophy of alveolar process of jaw atrophy of alveolar processes of jaw atrophy of the rectus femoris muscle atrophy of the rectus femoris muscles attachment of thumb close to wrist atypical connection between arteries and veins atypical connection between artery and vein axillary and groin hyperpigmentation and hypopigmentation basal cell hamartoma with follicular differentiation best correct visual acuity 0.1 logmar best correct visual acuity 0.2 logmar best correct visual acuity 0.3 logmar best correct visual acuity 0.4 logmar best correct visual acuity 0.5 logmar best correct visual acuity 0.6 logmar best correct visual acuity 0.7 logmar best correct visual acuity 0.8 logmar best correct visual acuity 0.9 logmar best correct visual acuity 1.0 logmar best correct visual acuity 1.1 logmar best correct visual acuity 1.2 logmar best correct visual acuity 1.3 logmar best correct visual acuity 2.0 logmar best correct visual acuity 3.0 logmar best corrected visual acuity 0.1 logmar best corrected visual acuity 0.2 logmar best corrected visual acuity 0.3 logmar best corrected visual acuity 0.4 logmar best corrected visual acuity 0.5 logmar best corrected visual acuity 0.6 logmar best corrected visual acuity 0.7 logmar best corrected visual acuity 0.8 logmar best corrected visual acuity 0.9 logmar best corrected visual acuity 1.0 logmar best corrected visual acuity 1.1 logmar best corrected visual acuity 1.2 logmar best corrected visual acuity 1.3 logmar best corrected visual acuity 2.0 logmar best corrected visual acuity 3.0 logmar beta - galactosidase - 1 deficiency bicarbonate - waste renal tubular acidosis bicarbonate - wasting renal tubular acidosis bifid distal phalanx of the thumb bifid proximal phalanx of the thumb bifid terminal phalanges of the hand bifid terminal phalanx of the hand bilateral cleft lip and cleft palate bilateral hypoplasia of mandibular condylar head bilateral hypoplasia of mandibular condylar neck birth length great than 97th percentile birth length greater than 97th percentile birth length less than 3rd percentile birth weight less than 10th percentile black lung pattern on pulmonary hrct bland - garland - white syndrome bleed with minor or no trauma bleeding with minor or no trauma blind spot locate at fixation point blind spot located at fixation point blood clot in a deep vein blood clot in artery of lung blue / yellow color vision defect blue / yellow colour vision defect blue out white part of eyeball blue outer white part of eyeball body fail to respond to insulin body fails to respond to insulin bone acetabular part of hip bone bone epiphysis of fifth metacarpal bone bone epiphysis of first metatarsal bone bone epiphysis of fourth metacarpal bone bone epiphysis of second metacarpal bone bone epiphysis of second metatarsal bone bone epiphysis of third metacarpal bone bone epiphysis of third metatarsal bone bone fusion involve the calf bone bone fusion involving the calf bones bone marrow biopsy show erythroid hyperplasia bone marrow biopsy shows erythroid hyperplasia bone marrow smear show erythroid hyperplasia bone marrow smear shows erythroid hyperplasia bone metacarpal bone of digit 1 bone metatarsal bone of digit 1 bone metatarsal bone of digit 4 bone metatarsal bone of digit 5 bone proximal phalanx of digit 2 bone proximal phalanx of digit 3 bone proximal phalanx of digit 4 bone proximal phalanx of digit 5 bone spicule pigmentation of the retina bow limb due to multiple fracture bow long bone in upper arm bowed limbs due to multiple fractures bowed long bone in upper arm bracket - epiphyses of index finger bracket - epiphysis of index finger bracket epiphyses of the 2nd finger bracket epiphyses of the 2nd toe bracket epiphyses of the 3rd finger bracket epiphyses of the 3rd toe bracket epiphyses of the 4th finger bracket epiphyses of the 4th toe bracket epiphyses of the 5th finger bracket epiphyses of the 5th toe bracket epiphysis of the 1st metacarpal bracket epiphysis of the 1st metatarsal bracket epiphysis of the 2nd finger bracket epiphysis of the 2nd toe bracket epiphysis of the 3rd finger bracket epiphysis of the 3rd toe bracket epiphysis of the 4th finger bracket epiphysis of the 4th toe bracket epiphysis of the 5th finger bracket epiphysis of the 5th toe breakdown of small bone of finger breakdown of small bones of fingers broad bone of the 2nd toe broad bone of the 4th toe broad bone of the little toe broad bone of the pinkie toe broad bone of the pinky toe broad bones of the 2nd toe broad bones of the 4th toe broad bones of the little toe broad bones of the pinkie toe broad bones of the pinky toe broad diaphyses of the upper limbs broad diaphysis of the upper limb broad distal phalanges of all fingers broad distal phalanges of the hand broad distal phalanx of all finger broad distal phalanx of the hallux broad distal phalanx of the hand broad distal phalanx of the thumb broad distal phalanx of the toe broad distal phalanx of the toes broad epiphyses of the upper limbs broad epiphysis of the upper limb broad growth plate of upper limb broad growth plates of upper limbs broad innermost bone of 2nd toe broad innermost bone of middle finger broad middle bone of 2nd toe broad middle bone of little finger broad middle bone of middle finger broad middle bone of pinkie finger broad middle bone of pinky finger broad middle bone of the toe broad middle bones of the toes broad middle phalanges of the hand broad middle phalanges of the toes broad middle phalanx of the hand broad middle phalanx of the toe broad outermost bone of big toe broad outermost bone of middle finger broad outermost bone of ring finger broad outermost bone of the thumb broad outermost bone of the toe broad outermost wide portion of thighbone broad phalanges of the 2nd finger broad phalanges of the 2nd toe broad phalanges of the 3rd finger broad phalanges of the 3rd toe broad phalanges of the 4th finger broad phalanges of the 4th toe broad phalanges of the 5th finger broad phalanges of the 5th toe broad phalanx of the 2nd finger broad phalanx of the 2nd toe broad phalanx of the 3rd finger broad phalanx of the 3rd toe broad phalanx of the 4th finger broad phalanx of the 4th toe broad phalanx of the 5th finger broad phalanx of the 5th toe broad proximal phalanges of the hand broad proximal phalanx of the hallux broad proximal phalanx of the hand broad proximal phalanx of the thumb broad wide portion of long bone broad wide portion of thigh bone bullet - shape 2nd toe phalanx bullet - shape 3rd toe phalanx bullet - shape 4th toe phalanx bullet - shape 5th toe phalanx bullet - shape innermost thumb bone bullet - shape innermost toe bone bullet - shape little finger bone bullet - shape middle toe phalanx bullet - shape pinkie finger bone bullet - shape pinky finger bone bullet - shape proximal toe phalanx bullet - shaped 2nd toe phalanx bullet - shaped 3rd toe phalanx bullet - shaped 4th toe phalanx bullet - shaped 5th toe phalanx bullet - shaped distal toe phalanx bullet - shaped index finger bone bullet - shaped index finger bones bullet - shaped innermost thumb bone bullet - shaped innermost toe bone bullet - shaped little finger bones bullet - shaped middle toe phalanx bullet - shaped pinkie finger bones bullet - shaped pinky finger bones bullet - shaped proximal toe phalanx cafe - au - lait macule cafe - au - lait macules cafe - au - lait spot cafe - au - lait spots calcific stippling of infantile cartilaginous skeleton calcification of the small brain vessel calcification of the small brain vessels calcified amorphous tumor of the heart calcified amorphous tumour of the heart calcify amorphous tumor of the heart calcify amorphous tumour of the heart camptodactyly of 2nd - 5th finger camptodactyly of 2nd - 5th fingers cardiac total anomalous pulmonary venous connection cardiac total anomalous pulmonary venous connexion cardiomyopathy , esp . right ventricular cauliflower deformity of dermal collagen fibril cauliflower deformity of dermal collagen fibrils cellular non - specific interstitial pneumonia central core region in muscle fiber central core region in muscle fibre central core regions in muscle fibers central core regions in muscle fibres cerebellar ataxia associate with quadrupedal gait cerebellar ataxia associated with quadrupedal gait cervical c2 / c3 vertebral fusion cervical c3 / c4 vertebral fusion cervical c5 / c6 vertebra fusion cervical c5 / c6 vertebrae fusion cherry red spot of the macula chess - pawn shape outermost bone chess - pawn shaped outermost bone chevron - shaped distal radial epiphysis childhood attention deficit / hyperactivity disorder chin , h - shape groove chin , h - shaped crease chin , h - shaped groove chin with h - shape crease chin with h - shaped crease cholesterol emboli within arcuate arterial lumen cholesterol emboli within arcuate vein lumen cholesterol emboli within interlobular vein lumen cholesterol emboli within the arteriolar lumen cholesterol embolus within arcuate arterial lumen cholesterol embolus within arcuate vein lumen cholesterol embolus within interlobular vein lumen cholesterol embolus within the arteriolar lumen chromosomal breakage induce by crosslinking agent chromosomal breakage induce by ionise radiation chromosomal breakage induce by ionize radiation chromosomal breakage induce by mitomycin c chromosomal breakage induced by crosslinking agents chromosomal breakage induced by ionising radiation chromosomal breakage induced by ionizing radiation chromosomal breakage induced by mitomycin c chronic decrease total igg in blood chronic decreased total igg in blood chronic hepatitis due to cryptosporidium infection chronic infection of the middle ear chronic infections of the middle ear chronic partially decrease igg1 in blood chronic partially decrease igg2 in blood chronic partially decrease igg3 in blood chronic partially decrease igg4 in blood chronic partially decreased igg1 in blood chronic partially decreased igg2 in blood chronic partially decreased igg3 in blood chronic partially decreased igg4 in blood clear cell adenocarcinoma of the vagina cleft of alveolar ridge of maxilla cleft of hard and soft palate clinical anophthalmia , unilateral / bilateral coalescence of carpal and tarsal bone coalescence of carpal and tarsal bones coarctation in the transverse aortic arch coarctation of the descend aortic arch coarctation of the descending aortic arch colorblindness , partial , protan series columella extend below the ala nasi columella extends below the ala nasi coma cause by low blood sugar coma caused by low blood sugar common - type renal tubular atrophy compensatory face turn to the left compensatory face turn to the right compensatory head tilt / chin elevation complete duplication of big toe bone complete duplication of big toe bones complete duplication of middle finger bone complete duplication of middle finger bones complete duplication of phalanx of hand complete duplication of the 1st metatarsal complete duplication of the first metacarpal complete leave sided absence of pericardium complete left sided absence of pericardium complete right side absence of pericardium complete right sided absence of pericardium compression fracture of a vertebral body cone - shaped capital femoral epiphysis cone - shaped distal radial epiphysis cone - shaped epiphyses of hand cone - shaped epiphyses of phalanges cone - shaped epiphysis of hand cone - shaped epiphysis of phalanx cone / cone - rod dystrophy congenital absence of skin of limb congenital absence of skin of limbs congenital absence of the va deferens congenital absence of the vas deferens congenital curve nail of fourth toe congenital curved nail of fourth toe congenital cystic disease of the lung congenital drooping of both upper eyelid congenital drooping of both upper eyelids congenital ectodermal dysplasia of the face congenital fibrosis of the extraocular muscle congenital fibrosis of the extraocular muscles congenital hypertrophy of retinal pigment epithelium congenital malformation of the great arteries congenital malformation of the great artery congenital malformation of the left heart congenital malformation of the right heart conjunctival whitish salt - like deposit conjunctival whitish salt - like deposits constant esotropia with an accommodative component constant esotropia with an accommodative element constrict , bell - shape thorax constricted , bell - shaped thorax contracture of post - cervical muscle contracture of post - cervical muscles coronary cameral fistula to right ventricle cortical peritubular capillary lumen cholesterol emboli cortical peritubular capillary lumen cholesterol embolus cortical peritubular capillary lumen organize thrombus cortical peritubular capillary lumen organized thrombi cortical radial artery foam cell hypercellularity cortical radial artery intimal mucoid edema cortical radial artery intraluminal organize thrombus cortical radial artery intraluminal organized thrombi cortical radial artery lumen cholesterol emboli cortical radial artery lumen cholesterol embolus cortical sclerosis of the iliac wing cortical subperiosteal resorption of humeral metaphyses cortical thickening of long bone diaphyses cortical thickening of long bone diaphysis cortical thickening of the forearm bone cortical thickening of the forearm bones cortical thickening of the long bone cortical thickening of the long bones corticotropin - release hormone receptor defect corticotropin - releasing hormone receptor defect crazy pave pattern on pulmonary hrct crazy paving pattern on pulmonary hrct crease in skin under the eye cri de chat - associate cry cri de chat - associated cry crumple long bone in upper arm crumpled long bone in upper arm crus of helix connect to antihelix crus of helix connected to antihelix cuboid - shaped thoracolumbar vertebral bodies cuboid - shaped thoracolumbar vertebral body cup wide portion of hand bone cupid - bow shape upper lip cupid - bow shaped upper lip cupped metaphyses of the upper limb cupped metaphyses of the upper limbs cupped wide portion of hand bones curve 1st long bone of foot curve 1st long bone of hand curve bone of the 2nd toe curve distal phalanx of the hallux curve distal phalanx of the hand curve distal phalanx of the thumb curve distal phalanx of the toe curve innermost bone of 2nd toe curve innermost bone of 3rd toe curve innermost bone of index finger curve innermost bone of little finger curve innermost bone of middle finger curve innermost bone of pinkie finger curve innermost bone of pinky finger curve middle bone of 2nd toe curve middle bone of 3rd toe curve middle bone of 4th toe curve middle bone of little finger curve middle bone of little toe curve middle bone of pinkie finger curve middle bone of pinkie toe curve middle bone of pinky finger curve middle bone of pinky toe curve middle bone of the toe curve middle phalanx of the hand curve middle phalanx of the toe curve outermost bone of big toe curve outermost bone of the thumb curve outermost bone of the toe curve phalanx of the 2nd finger curve phalanx of the 2nd toe curve phalanx of the 3rd finger curve phalanx of the 3rd toe curve phalanx of the 4th finger curve phalanx of the 4th toe curve phalanx of the 5th finger curve phalanx of the 5th toe curve proximal phalanx of the hallux curve proximal phalanx of the hand curve proximal phalanx of the thumb curve proximal phalanx of the toe curved 1st long bone of foot curved 1st long bone of hand curved bones of the 2nd toe curved distal phalanges of the hand curved distal phalanges of the toes curved distal phalanx of the hallux curved distal phalanx of the thumb curved innermost bone of 2nd toe curved innermost bone of 3rd toe curved innermost bone of index finger curved innermost bone of little finger curved innermost bone of middle finger curved innermost bone of pinkie finger curved innermost bone of pinky finger curved middle bone of 2nd toe curved middle bone of 3rd toe curved middle bone of 4th toe curved middle bone of little finger curved middle bone of little toe curved middle bone of pinkie finger curved middle bone of pinkie toe curved middle bone of pinky finger curved middle bone of pinky toe curved middle bones of the toes curved middle phalanges of the hand curved middle phalanges of the toes curved outermost bone of big toe curved outermost bone of the thumb curved outermost bone of the toe curved phalanges of the 2nd finger curved phalanges of the 2nd toe curved phalanges of the 3rd finger curved phalanges of the 3rd toe curved phalanges of the 4th finger curved phalanges of the 4th toe curved phalanges of the 5th finger curved phalanges of the 5th toe curved proximal phalanges of the hand curved proximal phalanges of the toes curved proximal phalanx of the hallux curved proximal phalanx of the thumb cutis gyrata of palm and sol cutis gyrata of palms and soles cylindrical shape long bone of hand cylindrical shaped long bones of hand cyst of the central nervous system cystic lesion in the basal ganglion cystic lesions in the basal ganglia cystic medial necrosis of the aorta d - 2 - hydroxyglutaric acidemia d - 2 - hydroxyglutaric aciduria damage to nerve that sense feel damage to nerves that sense feeling darkening of skin around the mouth darkening of skin of the lip darkening of skin of the lips decrease / absent deep tendon reflex decrease amplitude of sensory action potential decrease amplitude on flash visual electroretinogram decrease attenuation pattern on pulmonary hrct decrease bone mineral density z score decrease breadth of upper jaw bone decrease cd25 upregulation upon tcr activation decrease cd69 upregulation upon tcr activation decrease circulate 18 - hydroxycortisone level decrease circulate beta - crosslaps level decrease circulate beta - ctx level decrease circulate dehydroepiandrosterone - sulfate concentration decrease circulate dehydroepiandrosterone - sulfate level decrease circulate follicle stimulate hormone concentration decrease circulate follicle stimulate hormone level decrease circulate free fatty acid level decrease circulate level of specific antibody decrease complex n - glycan level decrease compound muscle action potential amplitude decrease csf / serum albumin ratio decrease csf 5 - hydroxyindolacetic acid decrease csf 5 - methyltetrahydrofolate concentration decrease distal sensory nerve action potential decrease esterify to free carnitine ratio decrease head circumference present at birth decrease igg subclass level in blood decrease immunoglobulin level in body fluid decrease lecithin cholesterol acyl transferase level decrease level of carnosine in blood decrease level of erythritol in csf decrease level of erythritol in urine decrease level of tissue plasminogen activator decrease mannose - binding protein level decrease methylmalonyl - coa mutase activity decrease mid - arm muscle circumference decrease mobility 3rd - 5th finger decrease movement range in interphalangeal joint decrease mucosal sucrase - isomaltase activity decrease pituitary glycoprotein alpha subunit level decrease plasma apolipoprotein c - ii decrease plasma gh - binding protein decrease platelet glycoprotein iib - iiia decrease post bronchodilator force vital capacity decrease pre bronchodilator force vital capacity decrease reactivity to skin test antigen decrease retinol - bind protein level decrease sialyl t - antigen concentration decrease sialylated n - glycan level decrease small intestinal mucosa lactase level decrease specific antibody response to infection decrease specific antibody response to vaccination decrease superoxide : superoxide oxidoreductase activity decrease sweat due to autonomic dysfunction decrease thyroid - stimulate hormone level decrease to absent deep tendon reflex decrease urine alpha - ketoglutarate concentration decrease visual acuity , slowly progressive decrease width of base of nose decrease width of dorsum of nose decrease width of upper jaw bone decrease width of upper lateral incisor decreased / absent deep tendon reflexes decreased activity of mitochondrial complex i decreased activity of mitochondrial complex ii decreased activity of mitochondrial complex iii decreased activity of mitochondrial complex iv decreased activity of mitochondrial respiratory chain decreased activity of mitochondrial respiratory complex decreased activity of mitochondrial respiratory complexes decreased activity of the pdh complex decreased amount of facial adipose tissue decreased amplitude of sensory action potentials decreased amplitudes on flash visual electroretinogram decreased attenuation pattern on pulmonary hrct decreased bone mineral density z score decreased breadth of upper jaw bones decreased cd25 upregulation upon tcr activation decreased cd69 upregulation upon tcr activation decreased circulating 18 - hydroxycortisone level decreased circulating beta - crosslaps level decreased circulating beta - ctx level decreased circulating dehydroepiandrosterone - sulfate concentration decreased circulating dehydroepiandrosterone - sulfate level decreased circulating follicle stimulating hormone concentration decreased circulating follicle stimulating hormone level decreased circulating free fatty acid level decreased circulating level of specific antibody decreased complex n - glycan level decreased compound muscle action potential amplitude decreased csf / serum albumin ratio decreased csf 5 - hydroxyindolacetic acid decreased csf 5 - methyltetrahydrofolate concentration decreased distal sensory nerve action potential decreased esterified to free carnitine ratio decreased head circumference present at birth decreased height of low lip vermilion decreased height of lower lip vermilion decreased height of upper lip vermilion decreased igg subclass level in blood decreased immunoglobulin level in body fluid decreased lecithin cholesterol acyl transferase level decreased length of anterior nasal spine decreased length of bridge of nose decreased length of septum of nose decreased level of acid labile subunit decreased level of alpha - fetoprotein decreased level of carnosine in blood decreased level of erythritol in csf decreased level of erythritol in urine decreased level of tissue plasminogen activator decreased levels of acid labile subunit decreased levels of alpha - fetoprotein decreased mannose - binding protein level decreased methylmalonyl - coa mutase activity decreased mid - arm muscle circumference decreased mobility 3rd - 5th fingers decreased movement range in interphalangeal joints decreased mucosal sucrase - isomaltase activity decreased number of circulate t cell decreased number of sternal ossification center decreased number of sternal ossification centers decreased number of sternal ossification centre decreased number of sternal ossification centres decreased numbers of circulating t cells decreased pituitary glycoprotein alpha subunit level decreased plasma apolipoprotein c - ii decreased plasma gh - binding protein decreased platelet glycoprotein iib - iiia decreased post bronchodilator forced vital capacity decreased pre bronchodilator forced vital capacity decreased projection of anterior nasal spine decreased projection of zygomaticomaxillary bone complex decreased proportion of cd19+cd27+igd - cell decreased proportion of cd19+cd27+igd - cells decreased proportion of cd3+ t cell decreased proportion of cd3+ t cells decreased proportion of cd4+cd25+ treg cell decreased proportion of cd4+cd25+ treg cells decreased proportion of cd8+ t cell decreased proportion of cd8+ t cells decreased proportion of gammadelta t cell decreased proportion of gammadelta t cells decreased proportion of immature b cell decreased proportion of immature b cells decreased proportion of memory b cell decreased proportion of memory b cells decreased proportion of memory t cell decreased proportion of memory t cells decreased proportion of naive b cell decreased proportion of naive b cells decreased proportion of naive t cell decreased proportion of naive t cells decreased proportion of transitional b cell decreased proportion of transitional b cells decreased reactivity to skin test antigens decreased retinol - binding protein level decreased sialyl t - antigen concentration decreased sialylated n - glycan level decreased size of anterior nasal spine decreased size of bone of forehead decreased size of bridge of nose decreased size of globe of eye decreased size of globes of eyes decreased size of internal carotid artery decreased size of maxillary lateral incisor decreased size of septum of nose decreased size of tip of nose decreased size of upper lateral incisor decreased size of zygomaticomaxillary bone complex decreased small intestinal mucosa lactase level decreased specific antibody response to infection decreased specific antibody response to vaccination decreased superoxide : superoxide oxidoreductase activity decreased sweating due to autonomic dysfunction decreased thyroid - stimulating hormone level decreased to absent deep tendon reflexes decreased urine alpha - ketoglutarate concentration decreased vertical length of upper lip decreased vibratory sense in low limb decreased vibratory sense in lower limbs decreased visual acuity , slowly progressive decreased volume of facial adipose tissue decreased volume of low lip vermilion decreased volume of lower lip vermilion decreased volume of upper lip vermilion decreased width of base of nose decreased width of dorsum of nose decreased width of upper jaw bones decreased width of upper lateral incisor deep s wave in lead v5 deep wrinkle in sol of foot deep wrinkles in soles of feet defective interstrand cross - link repair deficiency of alveolar process of jaw deficiency or absence of cytochrome b deficit in non - word repetition deform external ear on one side deform long bone in upper arm deformed external ear on one side deformed long bone in upper arm deformity of cartilage of nasal septum deformity of the low jaw bone deformity of the lower jaw bone deformity of the nasal alar cartilage deformity of the upper jaw bone deformity of the upper jaw bones deformity of the upper lip vermillion degeneration of the lateral corticospinal tract degeneration of the lateral corticospinal tracts degeneration of white matter of brain delay ability to walk with support delay coalescence of calcaneal ossification center delay coalescence of calcaneal ossification centre delay in central nervous system myelination delay maturation of the hand bone delay maturation of the trapezoid bone delay ossification of the hand bone delay ossification of the trapezoid bone delay pneumatization of the mastoid process delay recoil upon stretch of skin delayed ability to walk with support delayed closure of the anterior fontanelle delayed closure of the bregma suture delayed closure of the bregma sutures delayed coalescence of calcaneal ossification centers delayed coalescence of calcaneal ossification centres delayed maturation of the hand bones delayed maturation of the trapezoid bone delayed ossification of the hand bones delayed ossification of the trapezoid bone delayed pneumatization of the mastoid process delayed recoil upon stretching of skin dentinogenesis imperfecta limit to primary teeth dentinogenesis imperfecta limited to primary teeth depletion of mitochondrial dna in liver depress antibody response to polysaccharide antigen depressed antibody response to polysaccharide antigens desquamation of skin soon after birth developmental stagnation at onset of seizure developmental stagnation at onset of seizures diabetes mellitus , noninsulin - dependent diaphyseal abnormality of the upper limb diaphyseal abnormality of the upper limbs diaphyseal sclerosis of the upper limb diaphyseal sclerosis of the upper limbs diet - resistant subcutaneous adipose tissue difficulty adjust from dark to light difficulty adjust from light to dark difficulty adjust to change in luminance difficulty adjusting from dark to light difficulty adjusting from light to dark difficulty adjusting to changes in luminance difficulty perform quick and alternate movement difficulty performing quick and alternating movements diffuse reticular or finely nodular infiltration diffuse reticular or finely nodular infiltrations diffuse ribbon - like subcortical heterotopia diffuse swelling of cerebral white matter diffuse villous hypertrophy of choroid plexus dilatation of the descend thoracic aorta dilatation of the descending thoracic aorta dilatation of the sinus of valsalva dilatation of the superficial abdominal vein dilatation of the superficial abdominal veins dilate vestibule of the inner ear dilated vestibule of the inner ear dilation of virchow - robin space dilation of virchow - robin spaces diminish or absent deep tendon reflex diminished or absent deep tendon reflexes diminished vibratory sensation in the leg diminished vibratory sensation in the legs discordant connection of the cardiac segment discordant connection of the cardiac segments disharmonic maturation of the hand bone disharmonic maturation of the hand bones disintegration of the tubular basement membrane disorganisation of the anterior cerebellar vermis disorganization of the anterior cerebellar vermis displacement of the external urethral orifice disproportionate short - limb short stature disproportionate short - trunk short stature disproportionate short - trunked short stature disproportionately short middle portion of limb disproportionately short upper portion of limb disruption of the glomerular basement membrane disseminate bacillus calmette - guerin infection disseminate infection with live vaccine virus disseminated bacillus calmette - guerin infection disseminated infection with live vaccine virus distal muscle weakness in low limb distal muscle weakness in lower limbs distal sensory impairment in low limb distal sensory impairment in lower limbs distal sensory impairment of all modalities distal sensory impairment of all modality distal sensory loss of all modalities distal sensory loss of all modality distal sensory loss to all modalities distal sensory loss to all modality distort red blood cell resemble keratocytes distorted red blood cells resembling keratocytes dohle - like leukocyte inclusion bodies dohle - like leukocyte inclusion body double 1st long bone of hand double 1st long bones of hand double crown ( hair whorl ) double crown ( hair whorls ) dumbbell widening of long bone metaphyses duplicate 1st long bone of foot duplicated 1st long bone of foot duplication involve bone of the foot duplication involving bones of the feet duplication of bone of the toe duplication of bones of the toes duplication of distal phalanx of toe duplication of innermost 2nd toe bone duplication of long bone of foot duplication of long bones of foot duplication of middle phalanx of toe duplication of outermost bone of toe duplication of phalanx of 2nd finger duplication of phalanx of 3rd finger duplication of phalanx of 4th finger duplication of phalanx of 5th finger duplication of phalanx of big toe duplication of proximal phalanx of toe dust particle inclusion in alveolar macrophage dust particle inclusion in alveolar macrophages dwarfism , neonatal short - limbed dyschromatopsia with red - green confusion dysharmonic maturation of the hand bone dysharmonic maturation of the hand bones dysharmonic ossification of the hand bone dysharmonic ossification of the hand bones dysplasia of the superior cerebellar vermis ear , posterior angulation , increase ear , posterior angulation , increased ear rotate toward back of head early closure of midline skull joint early closure of the bregma suture early closure of the bregma sutures early closure of the cranial suture early closure of the cranial sutures early onset of puberty in male early onset of puberty in males early ossification of capital femoral epiphyses early ossification of capital femoral epiphysis early progressive calcific cardiac valvular disease ears rotated toward back of head ebstein anomaly of the tricuspid valve ectopic accesory toe - like appendage ectopic accessory finger - like appendage edema of the dorsum of feet edema of the dorsum of foot edema of the dorsum of hand edema of the dorsum of hands eeg : generalise low amplitude activity eeg : generalised low amplitude activity eeg : localise low amplitude activity eeg : localised low amplitude activity eeg : periodic lateralized epileptiform discharge eeg : periodic lateralized epileptiform discharges eeg : persistent abnormal rhythmic activity eeg with central focal spike wave eeg with central focal spike waves eeg with central sharp slow wave eeg with central sharp slow waves eeg with centrotemporal focal spike wave eeg with centrotemporal focal spike waves eeg with focal sharp slow wave eeg with focal sharp slow waves eeg with frontal focal spike wave eeg with frontal focal spike waves eeg with frontal sharp slow wave eeg with frontal sharp slow waves eeg with generalised low amplitude activity eeg with generalised polymorphic epileptiform discharge eeg with generalised polymorphic epileptiform discharges eeg with generalised sharp slow wave eeg with generalised sharp slow waves eeg with generalized low amplitude activity eeg with generalized polymorphic epileptiform discharge eeg with generalized polymorphic epileptiform discharges eeg with generalized sharp slow wave eeg with generalized sharp slow waves eeg with localised low amplitude activity eeg with localized low amplitude activity eeg with occipital focal spike wave eeg with occipital focal spike waves eeg with occipital sharp slow wave eeg with occipital sharp slow waves eeg with parietal focal spike wave eeg with parietal focal spike waves eeg with parietal sharp slow wave eeg with parietal sharp slow waves eeg with periodic lateralize epileptiform discharge eeg with periodic lateralized epileptiform discharges eeg with persistent abnormal rhythmic activity eeg with photoparoxysmal response grade i eeg with photoparoxysmal response grade ii eeg with photoparoxysmal response grade iii eeg with photoparoxysmal response grade iv eeg with series of focal spike eeg with series of focal spikes eeg with spike - wave complex eeg with spike - wave complexes eeg with temporal focal spike wave eeg with temporal focal spike waves eeg with temporal sharp slow wave eeg with temporal sharp slow waves effort - induced polymorphic ventricular tachycardia ekg : t - wave abnormalities ekg : t - wave abnormality ekg : t - wave inversion elevate 6 - hydroxypurine phosphoribosyltransferase level elevate 6 - mercaptopurine phosphoribosyltransferase level elevate alkaline phosphatase of bone origin elevate alkaline phosphatase of hepatic origin elevate alkaline phosphatase of renal origin elevate amniotic fluid alpha - fetoglobulin elevate amniotic fluid alpha - fetoprotein elevate amniotic fluid alpha fetal protein elevate amniotic fluid alpha foetal protein elevate apolipoprotein a - ii level elevate apolipoprotein a - iv level elevate apolipoprotein c - iii level elevate brain choline level by mr elevate brain creatine level by mr elevate brain lactate level by mr elevate bronchoalveolar lavage fluid eosinophil proportion elevate bronchoalveolar lavage fluid lymphocyte proportion elevate bronchoalveolar lavage fluid neutrophil proportion elevate c - reactive protein level elevate circulate 1 - methylhistidine concentration elevate circulate 3 - hydroxylinoleylcarnitine concentration elevate circulate 3 - hydroxypalmitoleylcarnitine concentration elevate circulate 3 - methylhistidine concentration elevate circulate 5 - oxoproline concentration elevate circulate beta - sitosterol concentration elevate circulate d - dimer concentration elevate circulate follicle stimulate hormone level elevate circulate l - alloisoleucine concentration elevate circulate lyso - globotriaosylsphingosine concentration elevate circulate o - butyrylcarnitine concentration elevate circulate o - decenoylcarnitine concentration elevate circulate o - dodecanoylcarnitine concentration elevate circulate o - glutarylcarnitine concentration elevate circulate o - hexanoylcarnitine concentration elevate circulate o - isovalerylcarnitine concentration elevate circulate o - octenoylcarnitine concentration elevate circulate o - phosphoethanolamine concentration elevate circulate o - phosphoserine concentration elevate circulate o - propionylcarnitine concentration elevate circulate pancreatic triacylglycerol lipase activity elevate circulate tenascin - c level elevate csf gamma - hydroxybutyric acid elevate hypoxanthine - guanine phosphoribosyltransferase level elevate imprint of the transverse sinus elevate maternal serum alpha - fetoprotein elevate non - hdl cholesterol concentration elevate phospho - ck after exercise elevate plasma branch chain amino acid elevate proportion of naive t cell elevate prostate - specific antigen level elevate red cell adenosine deaminase level elevate serum glutamic - pyruvic transaminase elevate tissue non - specific alp elevate urinary 2 - ethylhydracylic acid elevate urinary 2 - hydroxybutyric acid elevate urinary 3 - hydroxybutyric acid elevate urinary 3 - methylcrotonylglycine level elevate urinary 4 - hydroxybutyric acid elevate urinary 7 - biopterin level elevate urinary delta - aminolevulinic acid elevate urinary n - hexanoylglycine concentration elevate urine hydroxylysyl - pyridinoline level elevate urine l - alloisoleucine level elevate vascular endothelial growth factor level elevated 6 - hydroxypurine phosphoribosyltransferase level elevated 6 - mercaptopurine phosphoribosyltransferase level elevated alkaline phosphatase of bone origin elevated alkaline phosphatase of hepatic origin elevated alkaline phosphatase of renal origin elevated amniotic fluid alpha - fetoglobulin elevated amniotic fluid alpha - fetoprotein elevated amniotic fluid alpha fetal protein elevated amniotic fluid alpha foetal protein elevated apolipoprotein a - ii level elevated apolipoprotein a - iv level elevated apolipoprotein c - iii level elevated brain choline level by mrs elevated brain creatine level by mrs elevated brain lactate level by mrs elevated bronchoalveolar lavage fluid eosinophil proportion elevated bronchoalveolar lavage fluid lymphocyte proportion elevated bronchoalveolar lavage fluid neutrophil proportion elevated c - reactive protein level elevated circulating 1 - methylhistidine concentration elevated circulating 3 - hydroxylinoleylcarnitine concentration elevated circulating 3 - hydroxypalmitoleylcarnitine concentration elevated circulating 3 - methylhistidine concentration elevated circulating 5 - oxoproline concentration elevated circulating beta - sitosterol concentration elevated circulating d - dimer concentration elevated circulating follicle stimulating hormone level elevated circulating l - alloisoleucine concentration elevated circulating lyso - globotriaosylsphingosine concentration elevated circulating o - butyrylcarnitine concentration elevated circulating o - decenoylcarnitine concentration elevated circulating o - dodecanoylcarnitine concentration elevated circulating o - glutarylcarnitine concentration elevated circulating o - hexanoylcarnitine concentration elevated circulating o - isovalerylcarnitine concentration elevated circulating o - octenoylcarnitine concentration elevated circulating o - phosphoethanolamine concentration elevated circulating o - phosphoserine concentration elevated circulating o - propionylcarnitine concentration elevated circulating pancreatic triacylglycerol lipase activity elevated circulating tenascin - c level elevated csf gamma - hydroxybutyric acid elevated hypoxanthine - guanine phosphoribosyltransferase level elevated imprint of the transverse sinuses elevated maternal serum alpha - fetoprotein elevated non - hdl cholesterol concentration elevated phospho - ck after exercise elevated plasma branched chain amino acids elevated proportion of naive t cells elevated prostate - specific antigen level elevated red cell adenosine deaminase level elevated serum glutamic - pyruvic transaminase elevated tissue non - specific alp elevated urinary 2 - ethylhydracylic acid elevated urinary 2 - hydroxybutyric acid elevated urinary 3 - hydroxybutyric acid elevated urinary 3 - methylcrotonylglycine level elevated urinary 4 - hydroxybutyric acid elevated urinary 7 - biopterin level elevated urinary delta - aminolevulinic acid elevated urinary n - hexanoylglycine concentration elevated urine hydroxylysyl - pyridinoline level elevated urine l - alloisoleucine level elevated vascular endothelial growth factor level emg : decrement at repetitive stimulation emg : repetitive nerve stimulation abnormality enhancement of the c - reflex enlarged end part of finger bone enlarged end part of finger bones enlarged end part of innermost thighbone enlarged epiphyses of the 2nd finger enlarged epiphyses of the 2nd toe enlarged epiphyses of the 3rd finger enlarged epiphyses of the 3rd toe enlarged epiphyses of the 4th finger enlarged epiphyses of the 4th toe enlarged epiphyses of the 5th finger enlarged epiphyses of the 5th toe enlarged epiphysis of the 1st metacarpal enlarged epiphysis of the 1st metatarsal enlarged epiphysis of the 2nd finger enlarged epiphysis of the 2nd toe enlarged epiphysis of the 3rd finger enlarged epiphysis of the 3rd toe enlarged epiphysis of the 4th finger enlarged epiphysis of the 4th toe enlarged epiphysis of the 5th finger enlarged epiphysis of the 5th toe enlargement of the distal femoral epiphysis enlargement of the proximal femoral epiphysis eosinophilic infiltration in the stomach mucosa eosinophilic microabscess formation in the esophagus eosinophilic microabscess formation in the oesophagus epiphyseal stippling of the first metacarpal erlenmeyer flask deformity of distal femur erlenmeyer flask deformity of the femur erlenmeyer flask deformity of the femurs erythroid hypoplasia in the bone marrow exaggerated rugosity of the labia majora exaggerated rugosity of the labium majora excessive , persistent worry and fear excessive focal folding of myelin sheath excessive focal folding of myelin sheaths excessive insulin response to glucagon test excessive inward curvature of low spine excessive inward curvature of lower spine excessive sweating of palm and sol excessive sweating of palms and soles exercise - induced myoglobinuria in adult exercise - induced myoglobinuria in adults exercise - induced polymorphic ventricular tachycardia exercise - induced u wave inversion exostosis of the external auditory canal expand metacarpal with widened medullary cavity expand metatarsal with widened medullary cavity expand phalanx with widened medullary cavity expanded metacarpals with widened medullary cavities expanded metatarsals with widened medullary cavities expanded phalanges with widened medullary cavities extension of eyebrow towards upper eyelid extension of eyebrows towards upper eyelid extra - axial cerebrospinal fluid accumulation eyelid adhesion to globe of eye eyelid stay open due to scar eyelids stay open due to scarring facial palsy , unilateral or bilateral facial palsy secondary to cranial hyperostosis facial telangiectasia in butterfly midface distribution failure of development of a tooth failure of development of all teeth failure of development of central incisor failure of development of ethmoid sinus failure of development of ethmoid sinuses failure of development of eye tooth failure of development of facial bone failure of development of facial bones failure of development of facial skeleton failure of development of lateral incisor failure of development of low eyelash failure of development of low jaw failure of development of lower eyelashes failure of development of lower jaw failure of development of mandibular incisor failure of development of mandibular premolar failure of development of maxillary bicuspid failure of development of maxillary incisor failure of development of maxillary premolar failure of development of nasal cartilage failure of development of nasal septum failure of development of parotid duct failure of development of permanent molar failure of development of permanent teeth failure of development of secondary molar failure of development of secondary teeth failure of development of some teeth failure of development of stensen duct failure of development of upper eyelash failure of development of upper eyelashes failure of development of upper incisor failure of eruption of adult teeth failure of eruption of multiple teeth failure of eruption of permanent teeth false perception of self - motion falter weight secondary to recurrent infection faltering weight secondary to recurrent infections fatigable weakness of distal limb muscle fatigable weakness of distal limb muscles fatiguable weakness of proximal limb muscle fatiguable weakness of proximal limb muscles fatty replacement of ventricular myocardial tissue fava bean - induce hemolytic anaemia fava bean - induce hemolytic anemia fava bean - induced hemolytic anaemia fava bean - induced hemolytic anemia few and broad ridge in brain few or absent groove in brain fewer and broader ridges in brain fewer or absent grooves in brain fibrotic non - specific interstitial pneumonia fibular deviation of the 2nd toe fibular deviation of the 3rd toe fibular deviation of the 4th toe fibular deviation of the 5th toe fifth finger distal interphalangeal joint symphalangism fifth finger mid - phalanx hypoplasia fifth metacarpal notch on ulnar side fifth metacarpal notched on ulnar side fix flexion at the elbow joint fixed flexion at the elbow joint flare wide portion of elbow bone flare wide portion of long bone flared metaphyses of the upper limb flared metaphyses of the upper limbs flared metaphysis of low limb bone flared metaphysis of lower limb bone flared wide portion of elbow bone flared wide portion of long bone flat , discolored area of skin flat , discoloured area of skin flat end part of innermost thighbone flat end part of outermost thighbone flatten end part of knee bone flattended end part of thigh bone flattened end part of knee bone flattening of alveolar process of jaw flattening of alveolar processes of jaw flexion contracture of proximal interphalangeal joint flexion contracture of the 2nd finger flexion contracture of the 2nd toe flexion contracture of the 4th toe flexion contracture of the 5th toe flexion contractures of proximal interphalangeal joints foam cell with lamellar inclusion body foam cells with lamellar inclusion bodies focal absence of the external ear focal autonomic seizure with altered responsiveness focal autonomic seizure without altered responsiveness focal autonomic seizures without altered responsiveness focal aware autonomic seizure with erection focal aware autonomic seizure with lacrimation focal aware autonomic seizure with piloerection focal aware cognitive seizure with anomia focal aware cognitive seizure with dissociation focal aware cognitive seizure with hallucination focal aware cognitive seizure with illusion focal aware cognitive seizure with neglect focal aware emotional seizure with agitation focal aware emotional seizure with anger focal aware emotional seizure with cry focal aware emotional seizure with crying focal aware emotional seizure with laugh focal aware emotional seizure with laughing focal aware emotional seizure with paranoia focal aware emotional seizure with pleasure focal aware head nod automatism seizure focal aware head nodding automatism seizure focal aware motor seizure with dystonia focal aware motor seizure with version focal aware non - motor seizure focal cognitive seizure with auditory agnosia focal cognitive seizure with forced thinking focal cognitive seizure with memory impairment focal eeg discharge with secondary generalisation focal eeg discharge with secondary generalization focal eeg discharges with secondary generalisation focal eeg discharges with secondary generalization focal epithelial hyperplasia of oral mucosa focal friction - related palmoplantar hyperkeratosis focal impair awareness behavior arrest seizure focal impair awareness behaviour arrest seizure focal impair awareness bilateral motor seizure focal impair awareness hemifacial clonic seizure focal impair awareness manual automatism seizure focal impair awareness orofacial automatism seizure focal impair awareness pedal automatism seizure focal impair awareness perseverative automatism seizure focal impair awareness sexual automatism seizure focal impair awareness undressing automatism seizure focal impair awareness verbal automatism seizure focal impair awareness vocal automatism seizure focal impaired awareness behavior arrest seizure focal impaired awareness behaviour arrest seizure focal impaired awareness bilateral motor seizure focal impaired awareness hemifacial clonic seizure focal impaired awareness manual automatism seizure focal impaired awareness orofacial automatism seizure focal impaired awareness pedal automatism seizure focal impaired awareness perseverative automatism seizure focal impaired awareness sexual automatism seizure focal impaired awareness undressing automatism seizure focal impaired awareness verbal automatism seizure focal impaired awareness vocal automatism seizure focal motor aware seizure with dystonia focal motor aware seizure with version focal motor seizure with negative myoclonus focal non - motor aware seizure focal seizure with impairment of awareness focal seizure with loss of awareness focal seizure without impairment of awareness focal sensory seizure with auditory feature focal sensory seizure with auditory features focal sensory seizure with cephalic sensation focal sensory seizure with gustatory feature focal sensory seizure with gustatory features focal sensory seizure with olfactory feature focal sensory seizure with olfactory features focal sensory seizure with somatosensory feature focal sensory seizure with somatosensory features focal sensory seizure with vestibular feature focal sensory seizure with vestibular features focal sensory seizure with visual feature focal sensory seizure with visual features focal substantia nigra t2 hyperintense lesion focal t2 hyperintense basal ganglia lesion focal t2 hyperintense basal ganglion lesion focal t2 hypointense basal ganglia lesion focal t2 hypointense basal ganglion lesion formation of multiple pronuclei during fertilization formation of multiple pronucleus during fertilization foveal hyporeflective space on macular oct foveal hyporeflective spaces on macular oct fracture acetabular part of hip bone fracture metacarpal bone of digit 1 fracture metatarsal bone of digit 1 fracture metatarsal bone of digit 4 fracture metatarsal bone of digit 5 fracture proximal phalanx of digit 2 fracture proximal phalanx of digit 3 fracture proximal phalanx of digit 4 fracture proximal phalanx of digit 5 fractured acetabular part of hip bone fractured epiphysis of fifth metacarpal bone fractured epiphysis of first metatarsal bone fractured epiphysis of fourth metacarpal bone fractured epiphysis of second metacarpal bone fractured epiphysis of second metatarsal bone fractured epiphysis of third metacarpal bone fractured epiphysis of third metatarsal bone fractured metacarpal bone of digit 1 fractured metatarsal bone of digit 1 fractured metatarsal bone of digit 4 fractured metatarsal bone of digit 5 fractured proximal phalanx of digit 2 fractured proximal phalanx of digit 3 fractured proximal phalanx of digit 4 fractured proximal phalanx of digit 5 fragment elastic fiber in the dermis fragment elastic fibre in the dermis fragmented elastic fibers in the dermis fragmented elastic fibres in the dermis fragmented epiphyses of the upper limbs fragmented epiphysis of the upper limb freckle in sun - expose area freckles in sun - exposed areas front half of foot turn inward front half of foot turns inward full thickness defect of the eyelid fullness of tissue around the nose functional abnormality of male internal genitalia functional abnormality of the gastrointestinal tract functional abnormality of the gi tract functional abnormality of the inner ear functional abnormality of the middle ear fuse bone in the little toe fuse bone in the pinkie toe fuse bone in the pinky toe fuse finger bone of the hand fuse innermost bone of 3rd toe fuse innermost bone of 4th toe fuse innermost bone of big toe fuse innermost bone of index finger fuse innermost bone of little finger fuse innermost bone of little toe fuse innermost bone of middle finger fuse innermost bone of pinkie finger fuse innermost bone of pinkie toe fuse innermost bone of pinky finger fuse innermost bone of pinky toe fuse innermost bone of ring finger fuse middle bone of 2nd toe fuse middle bone of 3rd toe fuse middle bone of 4th toe fuse middle bone of 5th toe fuse middle bone of index finger fuse middle bone of little finger fuse middle bone of middle finger fuse middle bone of pinkie finger fuse middle bone of pinky finger fuse middle bone of ring finger fuse outermost bone of 3rd toe fuse outermost bone of big toe fused bones in the little toe fused bones in the pinkie toe fused bones in the pinky toe fused finger bones of the hand fused innermost bone of 3rd toe fused innermost bone of big toe fused innermost bone of index finger fused innermost bone of little finger fused innermost bone of little toe fused innermost bone of middle finger fused innermost bone of pinkie finger fused innermost bone of pinkie toe fused innermost bone of pinky finger fused innermost bone of pinky toe fused innermost bone of ring finger fused innermost bones of 4th toe fused middle bone of 2nd toe fused middle bone of index finger fused middle bone of middle finger fused middle bone of ring finger fused middle bones of 3rd toe fused middle bones of 4th toe fused middle bones of 5th toe fused middle bones of little finger fused middle bones of pinkie finger fused middle bones of pinky finger fused outermost bone of 3rd toe fused outermost bone of big toe fusion involve bone of the toe fusion involving bones of the toes fusion of carpal and tarsal bone fusion of carpal and tarsal bones fusion of second metacarpal - trapezoid fusion of upper and low lip fusion of upper and lower lips gap between 1st and 2nd toe gap between 1st and 2nd toes gap between first and second toe generalise low muscle tone in neonate generalised increase in muscle cell size generalised low muscle tone in neonate generalize low muscle tone in neonate generalized increase in muscle cell size generalized low muscle tone in neonate giant cell hepatitis on liver biopsy giant cell hepatitis show on biopsy giant cell hepatitis shown on biopsy globe retraction and deviation on abduction globe retraction and deviation on adduction glomerular basement membrane electron dense deposit glomerular basement membrane electron dense deposits glomerular basement membrane with powdery deposit glomerular basement membranes with powdery deposit glomerular endocapillary foam - cell hypercellularity glomerular endocapillary hypercellularity consist of leukocyte glomerular endocapillary hypercellularity consisting of leukocytes glomerular hyalinosis at the tubular pole glomerular subendothelial electron - dense deposit glomerular subendothelial electron - dense deposits glomerular subepithelial immune - complex deposit glomerular subepithelial immune - complex deposits glucocorticoid - remediable familial primary aldosteronism glycogen accumulation in muscle fiber lysosome glycogen accumulation in muscle fiber lysosomes glycogen accumulation in muscle fibre lysosome glycogen accumulation in muscle fibre lysosomes glycogen accumulation in pulmonary interstitial cell glycogen accumulation in pulmonary interstitial cells groove in skin under the eye ground glass opacity of humeral diaphysis growth in inner lining of intestine growths in inner lining of intestine hand has less than 5 fingers hand have less than 5 finger hardening of skin and connective tissue hco3 - waste renal tubular acidosis hco3 - wasting renal tubular acidosis head circumference large for gestational age head circumference small for gestational age hearing loss , high - frequency hearing loss , sensorineural , bilateral hearing loss , sensorineural , progressive helix , crus , tragal bridge heparin co - factor ii deficiency high - frequency sensorineural hearing impairment high - output congestive heart failure high - tone sensorineural hearing impairment high alanine level in cerebrospinal fluid high alanine levels in cerebrospinal fluid high albumin level in cerebrospinal fluid high albumin levels in cerebrospinal fluid high arginine level in cerebrospinal fluid high arginine levels in cerebrospinal fluid high blood beta - alanine level high blood beta - alanine levels high blood bilirubin level in neonate high blood bilirubin levels in neonate high blood insulin level while fast high blood insulin levels while fasting high blood phenylalanine level in mother high citrulline level in cerebrospinal fluid high citrulline levels in cerebrospinal fluid high cord blood carbon dioxide level high ethanolamine level in the blood high ethanolamine levels in the blood high glutamine level in cerebrospinal fluid high glutamine levels in cerebrospinal fluid high glycine level in cerebrospinal fluid high glycine levels in cerebrospinal fluid high hairline at back of head high histidine level in cerebrospinal fluid high histidine levels in cerebrospinal fluid high homocarnosine level in cerebrospinal fluid high homocarnosine levels in cerebrospinal fluid high leucine level in cerebrospinal fluid high leucine levels in cerebrospinal fluid high lysine level in cerebrospinal fluid high lysine levels in cerebrospinal fluid high maternal serum alpha - fetoprotein high methionine level in cerebrospinal fluid high methionine levels in cerebrospinal fluid high myoinositol in brain by mr high myoinositol in brain by mrs high nonceruloplasmin - bound serum copper high ornithine level in cerebrospinal fluid high ornithine levels in cerebrospinal fluid high phenylalanine level in cerebrospinal fluid high phenylalanine levels in cerebrospinal fluid high serine level in cerebrospinal fluid high serine levels in cerebrospinal fluid high serum 1,25 - dihydroxyvitamin d3 high threonine level in cerebrospinal fluid high threonine levels in cerebrospinal fluid high tryptophan level in cerebrospinal fluid high tryptophan levels in cerebrospinal fluid high tyrosine level in cerebrospinal fluid high tyrosine levels in cerebrospinal fluid high valine level in cerebrospinal fluid high valine levels in cerebrospinal fluid highly elevate serum phosph - ck highly elevated serum phosph - ck horizontal orientation of the ear crus hyaloid vascular remnant and retrolental mass hydrops fetalis , non - immune hyperchromasia of renal tubular epithelial cell hyperchromasia of renal tubular epithelial cells hyperkeratosis of the palm and sol hyperkeratosis of the palms and soles hyperpigmentation in sun - expose area hyperpigmentation in sun - exposed areas hyperplasia of alveolar process of jaw hyperplasia of half of the tongue hyperplasia of permanent maxillary central incisor hyperplasia of the primary palate bone hypersegmentation of neutrophil nuclei in csf hypersegmentation of neutrophil nucleus in csf hypertension due to renal artery hyperplasia hypertrophy of half of the tongue hypertrophy of permanent maxillary central incisor hypertrophy of the pulmonary artery wall hypoactive to absent deep tendon reflex hypoactive to absent deep tendon reflexes hypoplasia / absence of hand bone hypoplasia / absence of hand bones hypoplasia involve bone of the extremity hypoplasia involving bones of the extremities hypoplasia of condylar head of mandible hypoplasia of condylar neck of mandible hypoplasia of condylar process of mandible hypoplasia of depressor angula oris muscle hypoplasia of mandible relative to maxilla hypoplasia of maxilla relative to mandible hypoplasia of subcondylar region of mandible hypoplasia of the 3rd metatarsal bone hypoplasia of the abdominal wall musculature hypoplasia of the anterior nasal spine hypoplasia of the capital femoral epiphysis hypoplasia of the eccrine sweat gland hypoplasia of the eccrine sweat glands hypoplasia of the eighth cranial nerve hypoplasia of the fifth metatarsal bone hypoplasia of the iris dilator muscle hypoplasia of the primary palate bone hypoplasia of the pupil dilator muscle hypoplasia of the upper arm musculature hypoplastic - absent eccrine sweat gland hypoplastic - absent eccrine sweat glands hypoplastic / aplastic middle ear structure hypoplastic / aplastic middle ear structures hypoplastic phalanges of the little finger hypoplastic phalanx of the little finger hypoplastic proximal phalanx of the hallux hyporeflexia / areflexia in low limb hyporeflexia / areflexia in lower limbs hyposegmentation of neutrophil nuclei in csf hyposegmentation of neutrophil nucleus in csf hypothalamic gonadotropin - release hormone deficiency hypothalamic gonadotropin - releasing hormone deficiency hypotonia , axial , in infancy hypotrophy of the small hand muscle hypotrophy of the small hand muscles idiopathic non - cirrhotic portal hypertension ige - mediate animal dander allergy ige - mediate animal protein allergy ige - mediate cow milk allergy ige - mediate dust mite allergy ige - mediate insect bite allergy ige - mediate meat allergen allergy ige - mediate plant product allergy ige - mediated animal dander allergy ige - mediated animal protein allergy ige - mediated cow milk allergy ige - mediated dust mite allergy ige - mediated insect bite allergy ige - mediated meat allergen allergy ige - mediated plant product allergy immediate - type hypersensitivity drug reaction immunoglobulin e - mediate bacteria allergy immunoglobulin e - mediate dairy allergy immunoglobulin e - mediate drug allergy immunoglobulin e - mediate egg allergy immunoglobulin e - mediate feather allergy immunoglobulin e - mediate food allergy immunoglobulin e - mediate fungi allergy immunoglobulin e - mediate gluten allergy immunoglobulin e - mediate insect allergy immunoglobulin e - mediate parasite allergy immunoglobulin e - mediate seafood allergy immunoglobulin e - mediate venom allergy immunoglobulin e - mediated bacteria allergy immunoglobulin e - mediated dairy allergy immunoglobulin e - mediated drug allergy immunoglobulin e - mediated egg allergy immunoglobulin e - mediated feather allergy immunoglobulin e - mediated food allergy immunoglobulin e - mediated fungi allergy immunoglobulin e - mediated gluten allergy immunoglobulin e - mediated insect allergy immunoglobulin e - mediated parasite allergy immunoglobulin e - mediated seafood allergy immunoglobulin e - mediated venom allergy impair flow - mediate arterial dilatation impaired ability to form peer relationship impaired ability to form peer relationships impaired adp - induced platelet aggregation impaired b - lymphocyte isotype switching impaired collagen - induced platelet aggregation impaired convulxin - induced platelet aggregation impaired epinephrine - induced platelet aggregation impaired flow - mediated arterial dilatation impaired pathogen - specific cd8 cytoxicity impaired release of bile from liver impaired renal tubular reabsorption of bicarbonate impaired renal tubular reabsorption of magnesium impaired ristocetin - induced platelet aggregation impaired sensitivity to thyroid stimulate hormone impaired sensitivity to thyroid stimulating hormone impaired stimulus - induced skin wrinkling impaired thrombin - induced platelet aggregation impairment of activities of daily living impairment of activity of daily living impairment of the the acoustic reflex inability to coordinate movement when walk inability to coordinate movements when walking inability to touch chin to chest inadequate arch length for tooth size incomplete cleft of the upper lip incomplete closure of the vertebral arch incomplete maturation of the pubic bone increase adipose tissue around the neck increase axial length of the globe increase b - type natriuretic peptide increase basal angle of skull base increase bone density in foot bone increase bone density in hand bone increase bone density in skeletal bone increase bone density in thumb bone increase bone density of forearm bone increase bone density with cystic change increase breadth of bridge of nose increase breadth of tip of nose increase carotid artery intimal medial thickness increase cellular sensitivity to uv light increase circulate 18 - hydroxycortisone level increase circulate beta - crosslaps level increase circulate beta - ctx level increase circulate brain natriuretic peptide concentration increase circulate creatine kinase bb isoform increase circulate creatine kinase mb isoform increase circulate creatine kinase mm isoform increase circulate follicle stimulate hormone level increase circulate free fatty acid level increase circulate galectin - 3 level increase circulate n - acetylaspartate level increase circulate n - nicotinoylglycine level increase circulate nt - probnp concentration increase circulate pancreatic triacylglycerol lipase level increase complex n - glycan level increase csf / serum albumin ratio increase csf alpha - aminobutyrate concentration increase density of left ventricular trabecula increase density of long bone diaphysis increase disialyl t - antigen concentration increase echogenicity of the renal parenchyma increase esterify to free carnitine ratio increase groin pigmentation with raindrop depigmentation increase height of low lip vermilion increase height of upper lip vermilion increase hepatitis a virus antibody level increase hepatitis b virus antibody level increase hepatitis c virus antibody level increase immunoglobulin level in body fluid increase jitter at single fiber emg increase jitter at single fibre electromyography increase jitter at single fibre emg increase level of allantoin in serum increase level of asparagine in urine increase level of carnosine in blood increase level of circulate aspartic acid increase level of gaba in serum increase level of galactitol in erythrocyte increase level of galactitol in plasma increase level of galactitol in urine increase level of galactonate in erythrocyte increase level of galactonate in rbc increase level of hexanoylglycine in urine increase level of nana in fibroblast increase level of nana in urine increase level of neu5ac in fibroblast increase level of neu5ac in urine increase level of oxalate in urine increase level of phenylalanine in urine increase level of phosphoserine in urine increase level of ribitol in csf increase level of ribitol in serum increase level of ribitol in urine increase level of ribose in csf increase level of ribose in urine increase level of xylitol in csf increase level of xylitol in urine increase mannose - binding protein level increase megakaryocyte colony form unit count increase mid - arm muscle circumference increase mobility of outermost hinge joint increase non - hdl cholesterol concentration increase oct - measure foveal thickness increase oct - measure macular thickness increase percent tubular reabsorption of phosphorus increase phospho - ck after exercise increase pituitary glycoprotein alpha subunit level increase proportion of cd19+cd27+igd - cell increase proportion of cd25+ mast cell increase proportion of cd4+ t cell increase proportion of cd4+cd25+ treg cell increase proportion of exhausted t cell increase proportion of gammadelta t cell increase proportion of immature b cell increase proportion of memory b cell increase proportion of memory t cell increase proportion of naive b cell increase proportion of naive t cell increase proportion of transitional b cell increase proportion t - helper cell increase red blood cell distribution width increase serum 1,25 - dihydroxyvitamin d3 increase serum interferon - gamma level increase serum thyroid - stimulating hormone increase sialyl t - antigen concentration increase sialylated n - glycan level increase stool alpha1 - antitrypsin concentration increase superoxide : superoxide oxidoreductase activity increase susceptibility to neisseria meningitidis infection increase theta frequency activity in eeg increase thyroid - stimulate hormone level increase troponin i level in blood increase troponin t level in blood increase upper to lower segment ratio increase urinary 11 - deoxycorticosterone level increase urinary 11 - deoxycortisol level increase urinary 11 - deoxytetrahydrocorticosterone level increase urinary excretion of galactosyl hydroxylysine increase urinary o - link sialopeptides increase urinary squamous epithelial cell count increase urinary transitional epithelial cell count increase urine alpha - ketoglutarate concentration increase urine o - phosphoethanolamine level increase variability in muscle fiber diameter increase variability in muscle fiber size increase variability in muscle fibre diameter increase variability in muscle fibre size increase variation in muscle fiber size increase variation in muscle fibre size increase width of base of nose increase width of bridge of nose increase width of dorsum of nose increase width of tip of nose increased activity of mitochondrial respiratory chain increased adipose tissue around the neck increased amount of facial adipose tissue increased axial length of the globe increased b - type natriuretic peptide increased basal angle of skull base increased bone density in foot bone increased bone density in hand bone increased bone density in hand bones increased bone density in skeletal bones increased bone density in thumb bone increased bone density of forearm bones increased bone density with cystic changes increased breadth of bridge of nose increased breadth of tip of nose increased carotid artery intimal medial thickness increased cellular sensitivity to uv light increased circulating 18 - hydroxycortisone level increased circulating beta - crosslaps level increased circulating beta - ctx level increased circulating brain natriuretic peptide concentration increased circulating creatine kinase bb isoform increased circulating creatine kinase mb isoform increased circulating creatine kinase mm isoform increased circulating follicle stimulating hormone level increased circulating free fatty acid level increased circulating galectin - 3 level increased circulating n - acetylaspartate level increased circulating n - nicotinoylglycine level increased circulating nt - probnp concentration increased circulating pancreatic triacylglycerol lipase level increased complex n - glycan level increased csf / serum albumin ratio increased csf alpha - aminobutyrate concentration increased density of left ventricular trabeculae increased density of long bone diaphyses increased disialyl t - antigen concentration increased echogenicity of the renal parenchyma increased esterified to free carnitine ratio increased groin pigmentation with raindrop depigmentation increased height of lower lip vermilion increased height of upper lip vermilion increased hepatitis a virus antibody level increased hepatitis b virus antibody level increased hepatitis c virus antibody level increased immunoglobulin level in body fluid increased jitter at single fiber emg increased jitter at single fibre electromyography increased jitter at single fibre emg increased level of allantoin in serum increased level of asparagine in urine increased level of carnosine in blood increased level of circulating aspartic acid increased level of gaba in serum increased level of galactitol in erythrocytes increased level of galactitol in plasma increased level of galactitol in urine increased level of galactonate in erythrocytes increased level of galactonate in rbcs increased level of hexanoylglycine in urine increased level of nana in fibroblasts increased level of nana in urine increased level of neu5ac in fibroblasts increased level of neu5ac in urine increased level of oxalate in urine increased level of phenylalanine in urine increased level of phosphoserine in urine increased level of ribitol in csf increased level of ribitol in serum increased level of ribitol in urine increased level of ribose in csf increased level of ribose in urine increased level of xylitol in csf increased level of xylitol in urine increased mannose - binding protein level increased megakaryocyte colony forming unit count increased mid - arm muscle circumference increased mobility of outermost hinge joint increased non - hdl cholesterol concentration increased number of platelet in blood increased number of platelets in blood increased oct - measured foveal thickness increased oct - measured macular thickness increased percent tubular reabsorption of phosphorus increased phospho - ck after exercise increased pituitary glycoprotein alpha subunit level increased proportion of cd19+cd27+igd - cells increased proportion of cd25+ mast cells increased proportion of cd4+ t cells increased proportion of cd4+cd25+ treg cells increased proportion of exhausted t cells increased proportion of gammadelta t cells increased proportion of immature b cells increased proportion of memory b cells increased proportion of memory t cells increased proportion of naive b cells increased proportion of naive t cells increased proportion of transitional b cells increased proportion t - helper cells increased rate of premature chromosome condensation increased red blood cell distribution width increased serum 1,25 - dihydroxyvitamin d3 increased serum interferon - gamma level increased serum thyroid - stimulating hormone increased sialyl t - antigen concentration increased sialylated n - glycan level increased stool alpha1 - antitrypsin concentration increased superoxide : superoxide oxidoreductase activity increased susceptibility to neisseria meningitidis infections increased theta frequency activity in eeg increased thyroid - stimulating hormone level increased troponin i level in blood increased troponin t level in blood increased upper to lower segment ratio increased urinary 11 - deoxycorticosterone level increased urinary 11 - deoxycortisol level increased urinary 11 - deoxytetrahydrocorticosterone level increased urinary excretion of galactosyl hydroxylysine increased urinary o - linked sialopeptides increased urinary squamous epithelial cell count increased urinary transitional epithelial cell count increased urine alpha - ketoglutarate concentration increased urine o - phosphoethanolamine level increased variability in muscle fiber diameter increased variability in muscle fiber size increased variability in muscle fibre diameter increased variability in muscle fibre size increased variation in muscle fiber size increased variation in muscle fibre size increased vertical length of upper lip increased volume of facial adipose tissue increased volume of low lip vermilion increased volume of lower lip vermilion increased volume of upper lip vermilion increased width of base of nose increased width of bridge of nose increased width of dorsum of nose increased width of tip of nose increased wrinkle of palm and sol increased wrinkles of palms and soles indentation in back of outer ear indentation or clefting of the nose inflammation of corner of the mouth inflammation of corners of the mouth inflexible adherence to routines or ritual inflexible adherence to routines or rituals infra - aortic superior vena cava infracardiac total anomalous pulmonary venous connection infracardiac total anomalous pulmonary venous connexion interlobular arterial intima / media amyloidosis interlobular arterial intima / medium amyloidosis interlobular artery medial / intimal arteriitis interlobular septal thicken on pulmonary hrct interlobular septal thickening on pulmonary hrct interlobular vein intima / media amyloidosis interlobular vein intima / media multilamellation interlobular vein intima / media necrosis interlobular vein intima / media venulitis interlobular vein intima / medium amyloidosis interlobular vein intima / medium multilamellation interlobular vein intima / medium necrosis interlobular vein intima / medium venulitis internal notch of the femoral head interrupt aortic arch , type b interrupted aortic arch , type b intimal mucoid edema within arcuate vein intimal mucoid edema within arcuate veins intimal mucoid edema within interlobular vein intimal mucoid edema within interlobular veins intimal thickening in the coronary arteries intimal thickening in the coronary artery intra - alveolar accumulation of macrophage intra - alveolar accumulation of macrophages intracellular curvilinear profile on ultrastructural analysis intracellular curvilinear profiles on ultrastructural analysis intraluminal thrombi within arcuate arterial lumen intraluminal thrombi within cortical peritubular capillaries intraluminal thrombi within interlobular arterial lumen intraluminal thrombi within medullary peritubular capillaries intraluminal thrombus within arcuate arterial lumen intraluminal thrombus within cortical peritubular capillary intraluminal thrombus within interlobular arterial lumen intraluminal thrombus within medullary peritubular capillary intraretinal hyporeflective space on macular oct intraretinal hyporeflective spaces on macular oct intrinsic factor absent from gastric juice invert v - shape upper lip inverted v - shaped upper lip involuntary rhythmic muscular contraction and relaxation involuntary rhythmic muscular contractions and relaxations irregular , rachitic - like metaphyses irregular end part of finger bone irregular end part of finger bones irregular end part of innermost thighbone irregular end part of long bone irregular epiphyses of the 2nd finger irregular epiphyses of the 2nd toe irregular epiphyses of the 3rd finger irregular epiphyses of the 3rd toe irregular epiphyses of the 4th finger irregular epiphyses of the 4th toe irregular epiphyses of the 5th finger irregular epiphyses of the 5th toe irregular epiphyses of the upper limbs irregular epiphysis of the 1st metacarpal irregular epiphysis of the 1st metatarsal irregular epiphysis of the 2nd finger irregular epiphysis of the 2nd toe irregular epiphysis of the 3rd finger irregular epiphysis of the 3rd toe irregular epiphysis of the 4th finger irregular epiphysis of the 4th toe irregular epiphysis of the 5th finger irregular epiphysis of the 5th toe irregular epiphysis of the upper limb irregular metaphyses of the upper limb irregular metaphyses of the upper limbs irregular ossification at anterior rib end irregular ossification at anterior rib ends irregular ossification of the humeral epiphyses irregular ossification of the humeral epiphysis irregular ossification of the radial metaphysis irregular septal thicken on pulmonary hrct irregular septal thickening on pulmonary hrct irregular wide portion of elbow bone island of bone within cranial suture islands of bone within cranial sutures isolation of the left subclavian artery ivory epiphyses of the 2nd finger ivory epiphyses of the 2nd toe ivory epiphyses of the 3rd finger ivory epiphyses of the 3rd toe ivory epiphyses of the 4th finger ivory epiphyses of the 4th toe ivory epiphyses of the 5th finger ivory epiphyses of the 5th toe ivory epiphysis of the 1st metacarpal ivory epiphysis of the 1st metatarsal ivory epiphysis of the 2nd finger ivory epiphysis of the 2nd toe ivory epiphysis of the 3rd finger ivory epiphysis of the 3rd toe ivory epiphysis of the 4th finger ivory epiphysis of the 4th toe ivory epiphysis of the 5th finger ivory epiphysis of the 5th toe joint contracture of the 2nd finger joint contracture of the 2nd toe joint contracture of the 3rd finger joint contracture of the 3rd toe joint contracture of the 4th finger joint contracture of the 4th toe joint contracture of the 5th finger joint contracture of the 5th toe joint contracture of the big toe joint contracture of the fourth finger joint contractures of the 2nd finger joint contractures of the 2nd toe joint contractures of the 3rd toe joint contractures of the 4th toe joint contractures of the 5th toe joint contractures of the fourth finger juvenile type ovarian granulosa cell tumor juvenile type ovarian granulosa cell tumour l - 2 - hydroxyglutaric acidemia l - 2 - hydroxyglutaric aciduria lack of delayed skin hypersensitivity reaction lack of skin color on chest lack of skin coloring on chest lack of skin colour on chest lack of skin colouring on chest lack of sweating or excessive sweating lamellation of the glomerular basement membrane large , carp - shape mouth large , carp - shaped mouth large , late - closing fontanelle late - onset distal muscle weakness late - onset proximal muscle weakness late closure of large anterior fontanel late closure of the bregma suture late closure of the bregma sutures lateral displacement of the femoral head leave ventricular - right atrial communication leave ventricular non - compaction cardiomyopathy left - to - right shunt left ventricular - right atrial communication left ventricular non - compaction cardiomyopathy legg - calve - perthes syndrome lethal short - limbed short stature lethal short - trunk short stature limited eye motility from duane anomaly limited eye movement from duane anomaly limited hair on end of eyebrow limited mobility of innermost hinge joint limited mobility of proximal interphalangeal joint limited pronation / supination of forearm lipoma of the central nervous system lipomas of the central nervous system localise autonomic seizure with altered responsiveness localise autonomic seizure without altered responsiveness localised autonomic seizure with altered responsiveness localised autonomic seizures without altered responsiveness localised seizure with loss of awareness localize autonomic seizure with altered responsiveness localize autonomic seizure without altered responsiveness localized autonomic seizure with altered responsiveness localized autonomic seizures without altered responsiveness localized seizure with loss of awareness long 2nd long bone of hand long segment coarctation of the aorta loss of consciousness due to hypoglycemia loss of definition of corticomedullary differentiation loss of facial subcutaneous adipose tissue loss of fat tissue in trunk loss of glomerular endothelial cell fenestration loss of gluteal subcutaneous adipose tissue loss of large myelinated nerve fiber loss of large myelinated nerve fibre loss of larger myelinated nerve fibers loss of larger myelinated nerve fibres loss of subcutaneous truncal adipose tissue loss of truncal subcutaneous adipose tissue low - frequency sensorineural hearing impairment low - frequency sensorineural hearing loss low - molecular - weight proteinuria low - output congestive heart failure low - set posteriorly rotated ear low - set posteriorly rotated ears low - to - normal bp low 1 - minute apgar score low 10 - minute apgar score low 5 - minute apgar score low alanine level in cerebrospinal fluid low alanine levels in cerebrospinal fluid low alkaline phosphatase of bone origin low alkaline phosphatase of hepatic origin low alkaline phosphatase of renal origin low arginine level in cerebrospinal fluid low arginine levels in cerebrospinal fluid low blood sugar after a meal low cord blood carbon dioxide level low csf 5 - hydroxyindolacetic acid low csf bh4 ( tetrahydrobiopterin ) low five - minute apgar score low glutamine level in cerebrospinal fluid low glutamine levels in cerebrospinal fluid low gonadotropin ( secondary hypogonadism ) low gonadotropins ( secondary hypogonadism ) low hairline at back of neck low histidine level in cerebrospinal fluid low histidine levels in cerebrospinal fluid low jaw shift to one side low leucine level in cerebrospinal fluid low leucine levels in cerebrospinal fluid low lysine level in cerebrospinal fluid low lysine levels in cerebrospinal fluid low maternal serum alpha - fetoprotein low maternal serum papp - a low one - minute apgar score low phenylalanine level in cerebrospinal fluid low phenylalanine levels in cerebrospinal fluid low serine level in cerebrospinal fluid low serine levels in cerebrospinal fluid low serum 1,25 - dihydroxyvitamin d3 low tissue non - specific alp low valine level in cerebrospinal fluid low valine levels in cerebrospinal fluid lower jaw shifted to one side lymphocytic infiltration of the colorectal mucosa lytic cystic lesion in appendicular bone lytic cystic lesions in appendicular bones lytic defect in index finger phalanges lytic defect in index finger phalanx lytic defect of middle finger phalanx lytic defect of the forearm bone lytic defect of the humeral metaphysis lytic defects of middle finger phalanges lytic defects of the forearm bones lytic defects of the humeral metaphysis macrodontia of permanent maxillary central incisor malformation of cartilage of nasal septum malformation of the dorsum of nose malformation of the hepatic ductal plate malformation of the low jaw bone malformation of the lower jaw bone malformation of the nasal alar cartilage malformation of the upper jaw bone malformation of the upper jaw bones malformation of the upper lip vermillion marcus gunn jaw - winking syndrome mark metaphyseal flaring of long bone marked metaphyseal flaring of long bones maturity onset diabetes of the young medial rotation of the medial malleolus mediosternal , longitudinal streak of hypopigmentation medullary peritubular capillary lumen cholesterol emboli medullary peritubular capillary lumen cholesterol embolus medullary peritubular capillary lumen organize thrombus medullary peritubular capillary lumen organized thrombi melanin pigment aggregation in hair shaft melanin pigment aggregation in hair shafts mental retardation , borderline - mild merkel cell cancer of the skin metaphyseal abnormality of the upper limb metaphyseal abnormality of the upper limbs methicillin - resistant staphylococcus aureus infection metopic suture patent to nasal root microvillar pa - positive secretory granule microvillar pas - positive secretory granules middle and ring finger metacarpal synostosis midline cleft of maxillary alveolar process midline cleft of upper alveolar ridge midline notch of maxillary alveolar process midline notch of maxillary alveolar ridge midline notch of upper alveolar ridge midline notch of upper gum ridge mild constriction of peripheral visual field mildly elevate serum phospho - ck mildly elevated serum phospho - ck milky appearance of bronchoalveolar lavage fluid miss between one and six teeth miss low central incisor milk tooth miss outer large bone of forearm miss skin on limb since birth missing between one and six teeth missing lower central incisor milk tooth missing outer large bone of forearm missing skin on limbs since birth mitochondrial propionyl - coa carboxylase defect mixed total anomalous pulmonary venous connection mixed total anomalous pulmonary venous connexion moderate constriction of peripheral visual field modic type 1 vertebral endplate change modic type 1 vertebral endplate changes modic type 2 vertebral endplate change modic type 2 vertebral endplate changes modic type 3 vertebral endplate change modic type 3 vertebral endplate changes modic type i vertebral endplate change modic type i vertebral endplate changes modic type ii vertebral endplate change modic type ii vertebral endplate changes modic type iii vertebral endplate change modic type iii vertebral endplate changes monkey wrench appearance of femoral neck monoclonal elevation of igg heavy chain monoclonal elevation of igg kappa chain monoclonal elevation of igg lambda chain monoclonal elevation of igg light chain morbus legg - calve - perthes more than typical sleepiness during day morning generalise tonic - clonic seizure morning generalised tonic - clonic seizures morning generalize tonic - clonic seizure morning generalized tonic - clonic seizures morphologic abnormality of the renal glomerulus morphologic abnormality of the renal tubule morphologic abnormality of the renal tubules morphological abnormality of the corticospinal tract morphological abnormality of the gastrointestinal tract morphological abnormality of the gi tract morphological abnormality of the inner ear morphological abnormality of the middle ear morphological abnormality of the papillary muscle morphological abnormality of the papillary muscles morphological abnormality of the pyramidal tract morphological abnormality of the semicircular canal morphological anomaly of the digestive system mosaic attenuation pattern on pulmonary hrct mri diffusion abnormality of the cerebrum mucinous cystic neoplasm of the pancreas multicentric ossification of proximal femoral epiphyses multicentric ossification of proximal femoral epiphysis multicentric ossification of proximal humeral epiphyses multicentric ossification of proximal humeral epiphysis multinucleated giant chondrocytes in epiphyseal cartilage multinucleation of renal tubular epithelial cell multinucleation of renal tubular epithelial cells multiple exostoses of long tubular bones multiple exostosis of long tubular bone multiple fracture , present at birth multiple fractures , present at birth multiple non - erupt adult teeth multiple non - erupt permanent teeth multiple non - erupt secondary teeth multiple non - erupting adult teeth multiple non - erupting permanent teeth multiple non - erupting secondary teeth multiple pancreatic beta - cell adenoma multiple pancreatic beta - cell adenomas muscle abnormality relate to mitochondrial dysfunction muscle abnormality related to mitochondrial dysfunction muscle hypertrophy of the low extremity muscle hypertrophy of the lower extremities muscle pain , exercise - induced muscle stiffness , exercise - induced muscle weakness , distal , progressive muscle weakness , limb - girdle muscle weakness , progressive , distal muscle weakness , progressive , proximal muscle weakness , shoulder - girdle muscular hypertrophy of the calf muscle muscular hypertrophy of the calf muscles muscular weakness , limb - girdle myeloid maturation arrest in bone marrow myotonia with warm - up phenomenon narrow , bell - shape thorax narrow , bell - shaped thorax narrow , high - arched palate narrow joint space of the elbow narrow joint spaces of the elbow narrow small joint of the hand narrow small joints of the hand narrowing of pulp chamber of tooth neonatal electro - clinical autonomic seizure neonatal electro - clinical clonic seizure neonatal electro - clinical motor seizure neonatal electro - clinical myoclonic seizure neonatal electro - clinical sequential seizure neonatal electro - clinical tonic seizure neonatal electroclinical motor seizure with automatism neonatal electroclinical seizure with behavioural arrest neonatal insulin - dependent diabetes mellitus neonatal seizure with bilateral asymmetric automatism neonatal seizure with bilateral symmetric automatism neonatal short - limb short stature neonatal short - trunk short stature neoplasia of the central nervous system neoplasia of the male external genitalia neoplasm of the central nervous system neoplasm of the male external genitalia neoplasm of the peripheral nervous system neovascularization of peripheral and posterior retina neuronal loss in central nervous system neuronal loss in the cerebral cortex neuroplasm of the autonomic nervous system new blood vessel formation in cornea new blood vessel formation in iris no fourth finger distal interphalangeal crease no secondary sexual characteristic at puberty no secondary sexual characteristics at puberty nodular septal thicken on pulmonary hrct nodular septal thickening on pulmonary hrct nodular subcortical heterotopia in peritrigonal region nodular subcortical heterotopia in peritrigonal regions non - accomodative convergence excess esotropia non - alcoholic fatty pancreatic disease non - caseate epithelioid cell granulomatosis non - caseating epithelioid cell granulomatosis non - occlusive coronary artery disease non - occlusive coronary artery stenosis non - rapid eye movement parasomnia non - restrictive ventricular septal defect non - small cell lung cancer non - small cell lung carcinoma noncancerous growth of membrane cover brain noncancerous growth of membranes covering brain normal - density transverse humeral band normal - density transverse humeral bands notch first long bone of hand notch long bone in upper arm notch outermost bone of big toe notch outermost bone of the thumb notched cleft of the upper lip notched first long bone of hand notched long bone in upper arm notched outermost bone of big toe notched outermost bone of the thumb numerous multiple fracture present at birth numerous multiple fractures present at birth nystagmus , horizontal gaze - evoke nystagmus , horizontal gaze - evoked obliterative abnormality of the renal glomerulus obstruction of the superior vena cava obstructive deficit on pulmonary function test obstructive deficit on pulmonary function testing obtuse basal angle of skull base oedema of the dorsum of feet oedema of the dorsum of foot oedema of the dorsum of hand oedema of the dorsum of hands old - age sensorineural hearing impairment old - aged sensorineural hearing impairment oocyte meiotic arrest at metaphase i optic atrophy from cranial nerve compression optic nerve tram - track sign organize thrombus within arcuate arterial lumen organize thrombus within arcuate vein lumen organize thrombus within interlobular arterial lumen organize thrombus within interlobular vein lumen organized thrombi within arcuate arterial lumen organized thrombi within arcuate vein lumen organized thrombi within interlobular arterial lumen organized thrombi within interlobular vein lumen orthostatic hypotension due to autonomic dysfunction osteoarthritis of the distal interphalangeal joint osteoarthritis of the first carpometacarpal joint osteolysis involve bone of the foot osteolysis involving bones of the feet osteolytic defect of the 1st metacarpal osteolytic defect of the 1st metatarsal osteolytic defect of the hand bone osteolytic defects of the 1st metacarpal osteolytic defects of the 1st metatarsal osteolytic defects of the hand bones osteomyelitis , especially of the mandible ovarian sex cord - stromal tumor ovarian sex cord - stromal tumour pain in head and neck region palmoplantar keratosis with erythema and scale papillary renal cell carcinoma type 1 papillary renal cell carcinoma type 2 paralysis on one side of body paramedian cleft of the upper lip partial absence of the septum pellucidum partial agenesis of the corpus callosum partial autonomic seizure with altered responsiveness partial autonomic seizure without altered responsiveness partial autonomic seizures without altered responsiveness partial cleft of the upper lip partial development of the penile shaft partial duplication of 2nd toe bone partial duplication of middle finger bone partial duplication of middle finger bones partial duplication of the 1st metatarsal partial duplication of the first metacarpal partial duplication of the thumb bone partial duplication of the thumb bones partial functional complement factor d deficiency partial leave sided absence of pericardium partial left sided absence of pericardium partial loss of field of vision partial right side absence of pericardium partial right sided absence of pericardium partial seizure with impairment of awareness partial seizure with loss of awareness partial seizure without impairment of awareness partial to total absence of eyelash partial to total absence of eyelashes patchy change of bone mineral density patchy changes of bone mineral density patchy demyelination of subcortical white matter patchy increase of bone mineral density patchy reduction of bone mineral density patchy sclerosis of 2nd finger phalanx patchy sclerosis of 2nd toe phalanx patchy sclerosis of 3rd finger phalanx patchy sclerosis of 3rd toe phalanx patchy sclerosis of 4th finger phalanx patchy sclerosis of 4th toe phalanx patchy sclerosis of 5th finger phalanx patchy sclerosis of 5th toe phalanx patchy sclerosis of distal toe phalanx patchy sclerosis of middle finger phalanges patchy sclerosis of middle finger phalanx patchy sclerosis of middle toe phalanx patchy sclerosis of proximal toe phalanx patchy sclerosis of the 1st metacarpal patchy sclerosis of the 1st metatarsal patchy variation in bone mineral density patent ductus arteriosus after premature birth pathogen - specific cd8 cytoxicity defect paucity of anterior horn motor neuron paucity of anterior horn motor neurons peg - shaped maxillary lateral incisor peg - shaped maxillary lateral incisors periorbital ecchymosis with tarsal plate sparing periosteal new bone of humeral diaphysis periosteal thickening of long tubular bone periosteal thickening of long tubular bones permanent curving of the pinkie finger persistent foramen of the parietal bone persistent foramina of the parietal bones perthes - like femoral head change perthes - like femoral head changes ph - positive acute lymphoblastic leukaemia ph - positive acute lymphoblastic leukemia philadelphia - positive acute lymphoblastic leukaemia philadelphia - positive acute lymphoblastic leukemia photically induce tonic - clonic seizure photically induced tonic - clonic seizure photoreceptor layer loss on macular oct pigment deposition in the trabecular meshwork pit in front of the ear plaque build - up in arteries plaque build - up in artery platelet - activate factor acetylhydrolase deficiency platelet - activating factor acetylhydrolase deficiency point hairline at front of head point innermost long bone of hand point proximal second through fifth metacarpal pointed hairline at front of head pointed innermost long bone of hand pointed proximal second through fifth metacarpals polymicrogyria , anterior to posterior gradient poor cd25 upregulation upon tcr activation port - wine stain on eyelid port - wine stain on forehead port - wine stain on neck positive blood 1,3 beta glucan test positive methadone plasma / serum test positive plasma / serum cotinine test post - angioplasty coronary artery restenosis posterior crocodile shagreen of the cornea posterior subcapsular opacities of the lens posterior subcapsular opacity of the lens posterior synechiae of the anterior chamber postnatal onset of mild growth retardation precocious puberty with sertoli cell tumor precocious puberty with sertoli cell tumour premature closure of the bregma suture premature closure of the bregma sutures premature closure of the cranial suture premature closure of the cranial sutures presence of nmdar antibody in csf primarily generalise tonic - clonic seizure primarily generalised tonic - clonic seizures primarily generalize tonic - clonic seizure primarily generalized tonic - clonic seizures primary generalise tonic - clonic seizure primary generalised tonic - clonic seizure primary generalised tonic - clonic seizures primary generalize tonic - clonic seizure primary generalized tonic - clonic seizure primary generalized tonic - clonic seizures primary undifferentiated carcinoma of the skin progressive high - frequency hearing loss progressive loss of anterior horn cell progressive loss of anterior horn cells progressive loss of facial adipose tissue prolong russell 's viper venom time prolonged g2 phase of cell cycle prolonged need of intravenous antibiotic therapy prolonged russell 's viper venom time prolonged whole - blood clotting time prolonged yellowing of skin in newborn prominence of the primary palate bone prominent s wave in lead i protuberance at end of long bone protuberances at ends of long bones proximal muscle atrophy in upper limb proximal muscle atrophy in upper limbs proximal muscle weakness in low limb proximal muscle weakness in lower limbs proximal muscle weakness in upper limb proximal muscle weakness in upper limbs punch out area of chorioretinal hypopigmentation punched out areas of chorioretinal hypopigmentation pure ground - glass pulmonary nodule radial deviation of the 2nd finger radial deviation of the 3rd finger radial deviation of the 4th finger radial deviation of the 5th finger radial deviation of the ring finger radial deviation of thumb terminal phalanx recto - sigmoid colon stercoral ulcer recurrent bacterial upper respiratory tract infection recurrent bacterial upper respiratory tract infections recurrent gram - negative bacterial infection recurrent gram - negative bacterial infections recurrent infection in bronchus and lung recurrent infection of the gastrointestinal tract recurrent infection of the gi tract recurrent infection of the middle ear recurrent infections in bronchi and lungs recurrent infections of the middle ear recurrent loss of toenail and fingernail recurrent loss of toenails and fingernails recurrent low blood sugar in infant recurrent pneumonia due to aspiration , recurrent shed of toenail and fingernail recurrent shedding of toenails and fingernails recurrent trauma - related distressing dream recurrent trauma - related distressing dreams recurrent viral upper respiratory tract infection recurrent viral upper respiratory tract infections red / green color vision defect red / green colour vision defect red head ( hair color ) redness of skin or mucous membrane reduce / absent deep tendon reflex reduce 4 - hydroxyphenylpyruvate dioxygenase level reduce 6 - hydroxypurine phosphoribosyltransferase level reduce 6 - mercaptopurine phosphoribosyltransferase level reduce alpha / beta synthesis ratio reduce androgen - bind protein level reduce anterior - posterior chest diameter reduce beta / alpha synthesis ratio reduce blood 5 - methyltetrahydrofolate level reduce brain choline level by mr reduce brain creatine level by mr reduce brain glutamate level by mr reduce brain glutamine level by mr reduce brain lactate level by mr reduce c - reactive protein level reduce carbon dioxide in the blood reduce carnitine o - palmitoyltransferase level reduce cd95 - induced lymphocyte apoptosis reduce csf 5 - methyltetrahydrofolate concentration reduce electroretinogram rod b - wave reduce erythrocyte 2,3 - diphosphoglycerate concentration reduce factor xiii , subunit a reduce factor xiii , subunit b reduce fat tissue below the skin reduce hair growth in temporal region reduce hypoxanthine - guanine phosphoribosyltransferase level reduce il2ra upregulation upon tcr activation reduce lymphocyte surface expression of cd43 reduce lymphocyte surface expression of sialophorin reduce muscle fiber calpain - 3 reduce muscle fiber laminin beta 1 reduce muscle fibre calpain - 3 reduce muscle fibre laminin beta 1 reduce oct - measure foveal thickness reduce oct - measure macular thickness reduce plasminogen activator inhibitor 1 activity reduce plasminogen activator inhibitor 1 antigen reduce proportion of naive t cell reduce quantity of von willebrand factor reduce red cell adenosine deaminase level reduce red cell pyruvate kinase level reduce response to gnrh stimulation test reduce taurine level in the blood reduce upper - low segment ratio reduce upper to lower segment ratio reduced / absent deep tendon reflexes reduced 4 - hydroxyphenylpyruvate dioxygenase level reduced 6 - hydroxypurine phosphoribosyltransferase level reduced 6 - mercaptopurine phosphoribosyltransferase level reduced alpha / beta synthesis ratio reduced androgen - binding protein level reduced anterior - posterior chest diameter reduced beta / alpha synthesis ratio reduced blood 5 - methyltetrahydrofolate level reduced brain choline level by mrs reduced brain creatine level by mrs reduced brain glutamate level by mrs reduced brain glutamine level by mrs reduced brain lactate level by mrs reduced c - reactive protein level reduced carbon dioxide in the blood reduced carnitine o - palmitoyltransferase level reduced cd95 - induced lymphocyte apoptosis reduced csf 5 - methyltetrahydrofolate concentration reduced electroretinogram rod b - wave reduced erythrocyte 2,3 - diphosphoglycerate concentration reduced factor xiii , subunit a reduced factor xiii , subunit b reduced fat tissue below the skin reduced hair growth in temporal region reduced hypoxanthine - guanine phosphoribosyltransferase level reduced il2ra upregulation upon tcr activation reduced lymphocyte surface expression of cd43 reduced lymphocyte surface expression of sialophorin reduced muscle fiber calpain - 3 reduced muscle fiber laminin beta 1 reduced muscle fibre calpain - 3 reduced muscle fibre laminin beta 1 reduced number of corneal endothelial cell reduced number of corneal endothelial cells reduced number of intrahepatic bile duct reduced number of intrahepatic bile ducts reduced oct - measured foveal thickness reduced oct - measured macular thickness reduced plasminogen activator inhibitor 1 activity reduced plasminogen activator inhibitor 1 antigen reduced proportion of naive t cells reduced quantity of von willebrand factor reduced red cell adenosine deaminase level reduced red cell pyruvate kinase level reduced taurine levels in the blood reduced upper - lower segment ratio reduced upper to lower segment ratio redundant , wrinkle skin of palm redundant , wrinkled skin of palms regional leave ventricular wall motion abnormality regional left ventricular wall motion abnormality remnant of the hyaloid vascular system remnants of the hyaloid vascular system renal arteriole foam cell endoarterial hypercellularity renal arteriole intima / media amyloidosis renal arteriole intima / media arteriolosclerosis renal arteriole intima / media hyalinosis renal arteriole intima / media multilamellation renal arteriole intima / media necrosis renal arteriole intima / medium amyloidosis renal arteriole intima / medium arteriolosclerosis renal arteriole intima / medium hyalinosis renal arteriole intima / medium multilamellation renal arteriole intima / medium necrosis renal arteriole intimal / medial multilamellation renal interstitial igg4+ plasma cell infiltration renal interstitial non - necrotizing granuloma renal interstitial non - necrotizing granulomas renal interstitial non - necrotizing granulomata renal juxtaglomerular cell hypertrophy / hyperplasia renal tubular acidosis , type i renal tubular acidosis , type ii renal tubular epithelial cell cytoplasmic vacuolization renal tubular epithelial cell hyaline droplet renal tubular epithelial cell hyaline droplets renal tubular herpes simplex virus inclusion renal tubular herpes simplex virus inclusions repeat seizure without recovery between them repeated seizures without recovery between them repetitive or self - injurious behavior repetitive or self - injurious behaviour resorption of alveolar process of jaw resorption of alveolar processes of jaw respiratory complex deficiency , atpase deficiency respiratory distress due to muscle weakness respiratory failure due to muscle weakness respiratory insufficiency due to muscle weakness restrict neck mobility due to contracture restrict neck movement due to contracture restricted neck mobility due to contractures restricted neck movement due to contractures restrictive deficit on pulmonary function test restrictive deficit on pulmonary function testing restrictive deficit on pulmonary function tests reticulate pigmentation of oral mucous membrane retinal dystrophy with early macular involvement retinopathy of prematurity pre - plus right - to - left shunt round epiphyses of the upper limbs round epiphysis of the upper limb sacralization of the fifth lumbar vertebra sclerosis of bone of the foot sclerosis of bones of the feet sclerotic humeral metaphysis with longitudinal striation sclerotic humeral metaphysis with longitudinal striations sclerotic radial metaphysis with longitudinal striation sclerotic radial metaphysis with longitudinal striations secondarily generalise tonic - clonic seizure secondarily generalised tonic - clonic seizure secondarily generalised tonic - clonic seizures secondarily generalize tonic - clonic seizure secondarily generalized tonic - clonic seizure secondary generalise tonic - clonic seizure secondary generalised tonic - clonic seizures secondary generalize tonic - clonic seizure secondary generalized tonic - clonic seizures seizure affect one half of brain seizure affecting one half of brain sensorineural deafness , late - onset sensory and motor nerve conduction abnormalities sensory and motor nerve conduction abnormality severe constriction of peripheral visual field severe cup ear , type iii severe cupped ear , type iii severe demyelination of the white matter short - limb dwarfism identifiable neonatally short 1st long bone of foot short 2nd long bone of foot short 3rd long bone of foot short 4th long bone of foot short 5th long bone of foot short body and ramus of mandible short distal phalanx of the thumb short index finger and second toe short index fingers and second toes short innermost bone of little toe short innermost bone of middle finger short innermost bone of pinkie toe short innermost bone of pinky toe short limb dwarfism recognisable at birth short limb dwarfism recognizable at birth short long bone of upper arm short metacarpal with rounded proximal end short metacarpals with rounded proximal ends short middle bone ( foot ) short middle bone of 4th finger short middle bone of 4th toe short middle bone of index finger short middle bone of little toe short middle bone of middle finger short middle bone of pinkie toe short middle bone of pinky toe short middle bones ( feet ) short middle phalanx of ring finger short outermost bone of ring finger short outermost bone of the thumb short phalanges of the little finger short phalanx of the 2nd toe short phalanx of the 3rd toe short phalanx of the 4th toe short phalanx of the 5th toe short phalanx of the fifth toe short phalanx of the fourth toe short phalanx of the little finger short phalanx of the second toe short phalanx of the third toe short proximal middle - finger phalanx short stature , disproportionate short limb short terminal phalanx of middle finger short tubular bone of the hand short tubular bones of the hand shorten 1st long bone of hand shorten 2nd long bone of hand shorten 3rd long bone of hand shorten 4th long bone of hand shorten 5th long bone of hand shortened 1st long bone of hand shortened 2nd long bone of hand shortened 3rd long bone of hand shortened 4th long bone of hand shortened 5th long bone of hand shortening of all phalanges of fingers shortening of all phalanx of finger shortness of breathe upon physical activity shortness of breathing upon physical activity shovel - shape maxillary central incisor shovel - shape upper front teeth shovel - shaped maxillary central incisors shovel - shaped upper front teeth simple , cup - shaped ear simple , cup - shaped ears single interphalangeal crease of fifth finger skin tag on the posterior cheek slender , gracile long tubular bone slender , gracile long tubular bones slender long bone of upper arm slender long bone with narrow diaphysis slender long bone with narrow shaft slender long bones with narrow diaphyses slender long bones with narrow shaft slipped end part of innermost thighbone slow decrease in sharpness of vision small amount of blood in urine small and flat posterior skull bone small and flat posterior skull bones small dilate blood vessel in fingerpads small dilated blood vessels in fingerpads small distal phalanx of big toe small end part of finger bone small end part of finger bones small end part of innermost shankbone small end part of innermost shinbone small end part of outermost thighbone small epiphyses of the 2nd finger small epiphyses of the 2nd toe small epiphyses of the 3rd finger small epiphyses of the 3rd toe small epiphyses of the 4th finger small epiphyses of the 4th toe small epiphyses of the 5th finger small epiphyses of the 5th toe small epiphyses of the upper limbs small epiphysis of the 1st metacarpal small epiphysis of the 1st metatarsal small epiphysis of the 2nd finger small epiphysis of the 2nd toe small epiphysis of the 3rd finger small epiphysis of the 3rd toe small epiphysis of the 4th finger small epiphysis of the 4th toe small epiphysis of the 5th finger small epiphysis of the 5th toe small epiphysis of the upper limb small head circumference present at birth small intestine biopsy show villous atrophy small intestine biopsy shows villous atrophy small or short than typical limb small outermost bone of big toe small outermost segment of shoulder blade small outermost segments of shoulder blade small pec muscle on one side small proximal middle - finger phalanx small proximal phalanx of big toe small than typical growth of scrotum small wing of the pelvic girdle small wings of the pelvic girdle smaller or shorter than typical limbs smaller than typical growth of scrotum smoker - inclusion in alveolar macrophage smoker - inclusions in alveolar macrophages smooth septal thicken on pulmonary hrct smooth septal thickening on pulmonary hrct soft tissue swelling of hinge joint soft tissue swelling of hinge joints soft tissue swelling of interphalangeal joint soft tissue swelling of interphalangeal joints solitary median maxillary central incisor syndrome specific anti - polysaccharide antibody deficiency speckled calcification in long toe bone speckled calcifications in long toe bones spider vein of mucosa of nose spider vein of nasal mucous membrane spider vein of the oral cavity spider vein of the oral mucosa spider veins of mucosa of nose spider veins of nasal mucous membrane spider veins of the oral cavity spider veins of the oral mucosa spinal cord anterior horn cell degeneration spinal cord posterior column myelin loss spinal cord posterior columns myelin loss spinal stenosis due to short pedicle spinal stenosis due to short pedicles spinal stenosis with reduced interpedicular distance spindle cell carcinoma of the tongue spinocerebellar tract disease in low limb spinocerebellar tract disease in lower limbs spinous keratoses of palm and sol spinous keratoses of palms and soles spurred metaphyses of the upper limb spurred metaphyses of the upper limbs squamous cell carcinoma of the pancreas squamous cell carcinoma of the skin squamous cell carcinoma of the tongue squamous cell carcinoma of the vulva starry sky appearance on hepatic sonography status epilepticus with prominent motor symptom status epilepticus with prominent motor symptoms status epilepticus without prominent motor symptom status epilepticus without prominent motor symptoms stenosis of the external auditory canal stipple calcification of the humeral epiphysis stipple ossification of the humeral epiphysis stippled calcification of the humeral epiphyses stippled ossification of the humeral epiphyses structural abnormality of the chest wall structural anomalies of the renal tract structural anomaly of the renal tract sub - inner limit membrane haemorrhage sub - inner limit membrane hemorrhage sub - inner limiting membrane haemorrhage sub - inner limiting membrane hemorrhage subretinal hyporeflective space on macular oct subretinal hyporeflective spaces on macular oct subsarcolemmal accumulation of abnormally shape mitochondrion subsarcolemmal accumulations of abnormally shaped mitochondria sun sensitivity occur early in life sun sensitivity occurring early in life supernumerary bone of the axial skeleton supernumerary bones of the axial skeleton supracardiac total anomalous pulmonary venous connection supracardiac total anomalous pulmonary venous connexion swedish key appearance of femoral neck swollen lymph node in the neck swollen lymph nodes in the neck symmetric , concentric , hypertrophic cardiomyopathy symmetric lesion of the basal ganglion symmetric lesions of the basal ganglia symmetrical , oval parietal bone defect symmetrical , oval parietal bone defects symmetrical , proximal limb muscle atrophy symphalangism of middle phalanx of finger syndactyly , 2 - 3 finger syndactyly of 3rd - 4th toe syndactyly of 3rd - 4th toes syndactyly of second and third toe syndactyly of second and third toes syndactyly of second to fourth finger syndactyly of second to fourth fingers syndactyly of toe 4 and 5 syndactyly of toes 4 and 5 syndrome of inappropriate antidiuretic hormone secretion synostosis involve bone of the finger synostosis involve bone of the foot synostosis involve bone of the hand synostosis involve bone of the toe synostosis involve phalanx of the hand synostosis involving bones of the feet synostosis involving bones of the fingers synostosis involving bones of the hand synostosis involving bones of the toes synostosis involving phalanges of the hand synostosis of second metacarpal - trapezoid t - cell acute lymphoblastic leukemia t - cell acute lymphoblastic leukemias t - cell lymphoma / leukemia taper distal phalanx of the hand taper long bone of upper arm tapered distal phalanges of the hand tapered long bone of upper arm tapering of outermost end of thighbone teeth with type iii dentinogenesis imperfecta telangiectasia of mucous membrane of nose telangiectasia of the oral mucous membrane tetralogy of fallot with pulmonary atresia tetralogy of fallot with pulmonary stenosis thick anterior alveolar process of jaw thick vermilion border of low lip thick vermilion border of lower lip thick vermilion border of upper lip thicken , discolor skin under nail thicken , discolour skin under nail thicken elastic fiber in the dermis thicken elastic fibre in the dermis thicken fold on top of scalp thickened , discolored skin under nail thickened , discoloured skin under nail thickened elastic fibers in the dermis thickened elastic fibres in the dermis thickened folds on top of scalp thickening of the tubular basement membrane thickening of upper layer of skin thin proximal phalanges with broad epiphyses thin proximal phalanx with broad epiphysis thin vermilion border of low lip thin vermilion border of lower lip thin vermilion border of upper lip thyroid - stimulate hormone receptor defect thyroid - stimulating hormone receptor defect thyrotoxicosis with toxic single thyroid nodule tibial deviation of the 2nd toe tibial deviation of the 3rd toe tibial deviation of the 4th toe tibial deviation of the 5th toe toe syndactyly , 2 - 3 tombstone - shape innermost digital bone tombstone - shaped innermost digital bones tongue - like lumbar vertebral deformities tongue - like lumbar vertebral deformity tonic neck reflex asymmetrical and persistent too much calcium deposit in kidney too much calcium deposited in kidneys tooth with dentin dysplasia type i total absence von willebrand factor multimers tragal bridge of crus of helix transient decrease in blood erythrocyte number transitional cell carcinoma of the bladder transphyseal fracture of the distal humerus tree - in - bud pattern triangular end part of finger bone triangular end part of finger bones triangular epiphyses of the 2nd finger triangular epiphyses of the 2nd toe triangular epiphyses of the 3rd finger triangular epiphyses of the 3rd toe triangular epiphyses of the 4th finger triangular epiphyses of the 4th toe triangular epiphyses of the 5th finger triangular epiphyses of the 5th toe triangular epiphysis of the 1st metacarpal triangular epiphysis of the 1st metatarsal triangular epiphysis of the 2nd finger triangular epiphysis of the 2nd toe triangular epiphysis of the 3rd finger triangular epiphysis of the 3rd toe triangular epiphysis of the 4th finger triangular epiphysis of the 4th toe triangular epiphysis of the 5th finger triangular epiphysis of the 5th toe triangular long bone of upper arm triangular shape bone of 2nd toe triangular shape bone of 4th toe triangular shape bone of big toe triangular shape bone of ring finger triangular shape bone of second toe triangular shape innermost 2nd toe bone triangular shape innermost little finger bone triangular shape innermost pinkie finger bone triangular shape innermost pinky finger bone triangular shape middle bone of toe triangular shape middle little finger bone triangular shape middle pinkie finger bone triangular shape middle pinky finger bone triangular shape outermost 2nd toe bone triangular shape outermost little finger bone triangular shape outermost pinkie finger bone triangular shape outermost pinky finger bone triangular shape phalanx of the hallux triangular shape phalanx of the hand triangular shape phalanx of the thumb triangular shape phalanx of the toe triangular shaped bone of 2nd toe triangular shaped bone of ring finger triangular shaped bone of second toe triangular shaped bones of 4th toe triangular shaped bones of big toe triangular shaped innermost 2nd toe bone triangular shaped innermost little finger bone triangular shaped innermost pinkie finger bone triangular shaped innermost pinky finger bone triangular shaped middle bones of toes triangular shaped middle little finger bone triangular shaped middle pinkie finger bone triangular shaped middle pinky finger bone triangular shaped outermost 2nd toe bone triangular shaped outermost little finger bone triangular shaped outermost pinkie finger bone triangular shaped outermost pinky finger bone triangular shaped phalanges of the hallux triangular shaped phalanges of the hand triangular shaped phalanges of the thumb triangular shaped phalanges of the toes tumor of the central nervous system tumor of the peripheral nervous system tumors of the central nervous system tumour of the central nervous system tumour of the peripheral nervous system tumours of the central nervous system twin - to - twin transfusion two - raphe bicuspid aortic valve u - shape upper lip vermilion u - shaped upper lip vermilion ubiquitin - positive cerebral inclusion bodies ubiquitin - positive cerebral inclusion body ulnar angulation of the index finger ulnar deviation of the 1st finger ulnar deviation of the 2nd finger ulnar deviation of the 3rd finger ulnar deviation of the 4th finger ulnar deviation of the 5th finger ulnar deviation of the ring finger underdeveloped middle portion of the collarbone underdeveloped outermost segment of shoulder blade underdeveloped outermost segments of shoulder blade underdeveloped pec muscle on one side underdevelopment of alveolar process of jaw underdevelopment of condylar head of mandible underdevelopment of condylar neck of mandible underdevelopment of condylar process of mandible underdevelopment of the primary palate bone unequal size of red blood cell unequal size of red blood cells unilateral absence of pectoralis major muscle unilateral aplasia of pectoralis major muscle unilateral hypoplasia of pectoralis major muscle unilateral paralysis of the vocal cord upper and low gum fuse together upper and lower gums fused together upper respiratory tract infection , recurrent upper respiratory tract infections , recurrent uric acid urolithiasis independent of gout vascular remnant arise from the disc vascular remnant arising from the disc ventilator dependence with inability to wean ventricular preexcitation with multiple accessory pathway ventricular preexcitation with multiple accessory pathways verrucous cell carcinoma of the tongue very late eruption of adult teeth very late eruption of permanent teeth very long chain fatty acid accumulation very severe peripheral visual field loss visual acuity light perception with projection visual acuity light perception without projection vocal cord paresis in severe case vocal cord paresis in severe cases von willebrand disease type ii normandy wasting of limb - girdle muscle wasting of muscle near the body wasting of muscles near the body weak or absent deep tendon reflex weak or absent deep tendon reflexes weakness of long finger extensor muscle weakness of long finger extensor muscles weakness of muscle control eye movement weakness of muscles controlling eye movement weakness of one side of body weakness of the intrinsic hand muscle weakness of the intrinsic hand muscles wedge - shape 11th thoracic vertebra wedge - shape 12th thoracic vertebra wedge - shaped 11th thoracic vertebra wedge - shaped 12th thoracic vertebra weight falter secondary to recurrent infection weight faltering secondary to recurrent infections white lesion of the oral mucosa white part of hair above forehead white spot lesion of tooth enamel white spot lesions of tooth enamel wide , carp - shape mouth wide , carp - shaped mouth wide / broad index finger phalanges wide / broad index finger phalanx wide / broad middle finger phalanges wide / broad middle finger phalanx wide 1st long bone of foot wide 1st long bone of hand wide diaphyses of the upper limbs wide diaphysis of the upper limb wide end part of innermost thighbone wide epiphyses of the upper limbs wide epiphysis of the upper limb wide gap between upper central incisor wide gap between upper central incisors wide innermost bone of 3rd toe wide innermost bone of 4th toe wide innermost bone of index finger wide long bone of upper arm wide midline cleft lip / palate wide outermost bone of big toe wide outermost bone of ring finger wide outermost bone of the toe wide outermost end of long bone wide than typical opening or gap wide tip of outermost digital bone wide tips of outermost digital bone widely - space maxillary central incisor widely - spaced maxillary central incisors widely space 1st - 2nd toe widely space first and second toe widely spaced 1st - 2nd toes widely spaced first and second toes widen gap 1st - 2nd toe widen gap first and second toe widened gap 1st - 2nd toes widened gap first and second toe widening of phalanges of the hand widening of phalanx of the hand wider than typical opening or gap wolff - parkinson - white syndrome wrinkled skin of hand and foot wrinkled skin of hands and feet wrist bone / ankle bone fusion wrist bone / ankle bone fusions 1 - 2 toe complete cutaneous syndactyly 1 - 5 finger complete cutaneous syndactyly 1 - minute apgar score of 0 1 - minute apgar score of 1 1 - minute apgar score of 2 1 - minute apgar score of 3 1 - minute apgar score of 4 1 - minute apgar score of 5 1 - minute apgar score of 6 10 - minute apgar score of 0 10 - minute apgar score of 1 10 - minute apgar score of 2 10 - minute apgar score of 3 10 - minute apgar score of 4 10 - minute apgar score of 5 10 - minute apgar score of 6 2 - 3 toe soft tissue syndactyly 2nd - 5th toe middle phalangeal hypoplasia 5 - minute apgar score of 0 5 - minute apgar score of 1 5 - minute apgar score of 2 5 - minute apgar score of 3 5 - minute apgar score of 4 5 - minute apgar score of 5 5 - minute apgar score of 6 abnormal aggressive , impulsive or violent behavior abnormal aggressive , impulsive or violent behaviour abnormal alpha - beta t cell morphology abnormal alveolar epithelial type ii cell morphology abnormal amino acid level in cerebrospinal fluid abnormal amino acid levels in cerebrospinal fluid abnormal amplitude of flash visual evoke potential abnormal amplitude of flash visual evoked potentials abnormal arcuate artery intima / media morphology abnormal arcuate artery intima / medium morphology abnormal arcuate vein intima / media morphology abnormal arcuate vein intima / medium morphology abnormal aspartic acid level in cerebrospinal fluid abnormal aspartic acid levels in cerebrospinal fluid abnormal axonemal organisation of respiratory motile cilia abnormal axonemal organisation of respiratory motile cilium abnormal axonemal organization of respiratory motile cilia abnormal axonemal organization of respiratory motile cilium abnormal b - type natriuretic peptide level abnormal blood gas level in cord blood abnormal branch pattern of left aortic arch abnormal branch pattern of the aortic arch abnormal branching pattern of left aortic arch abnormal branching pattern of the aortic arch abnormal ca - phos regulate hormone level abnormal ca - phos regulating hormone level abnormal calcium - phosphate regulate hormone level abnormal calcium - phosphate regulating hormone level abnormal carbon dioxide level in cord blood abnormal chest radiograph finding ( lung ) abnormal circulate aspartate family amino acid concentration abnormal circulate branch chain amino acid concentration abnormal circulate fatty - acid anion concentration abnormal circulate follicle - stimulate hormone concentration abnormal circulate follicle - stimulate hormone level abnormal circulate glutamine family amino acid concentration abnormal circulate proteinogenic amino acid derivative concentration abnormal circulate pyruvate family amino acid concentration abnormal circulate serine family amino acid concentration abnormal circulating aspartate family amino acid concentration abnormal circulating branched chain amino acid concentration abnormal circulating fatty - acid anion concentration abnormal circulating follicle - stimulating hormone concentration abnormal circulating follicle - stimulating hormone level abnormal circulating glutamine family amino acid concentration abnormal circulating proteinogenic amino acid derivative concentration abnormal circulating pyruvate family amino acid concentration abnormal circulating serine family amino acid concentration abnormal concentration of acylcarnitine in the urine abnormal core 1 o - glycan level abnormal csf aspartate family amino acid concentration abnormal csf branch chain amino acid concentration abnormal csf branched chain amino acid concentration abnormal csf glutamine family amino acid concentration abnormal csf pyruvate family amino acid concentration abnormal csf serine family amino acid concentration abnormal dark - adapt dim flash electroretinogram abnormal dark - adapted bright flash electroretinogram abnormal dark - adapted dim flash electroretinogram abnormal deposit of calcium in the brain abnormal deposits of calcium in the brain abnormal development of end part of bone abnormal distribution of retinal arteriole and venule abnormal distribution of retinal arterioles and venules abnormal fat tissue distribution below the skin abnormal fear / anxiety - relate behaviour abnormal fear / anxiety - related behavior abnormal fear / anxiety - related behaviour abnormal finger - nose - finger test abnormal form of phalanges of the hand abnormal form of phalanx of the hand abnormal function of filtrate structure in kidney abnormal function of filtrating structures in kidney abnormal g6pd level in dried blood spot abnormal g6pd level in red blood cell abnormal g6pd level in red blood cells abnormal glutamic acid level in cerebrospinal fluid abnormal glutamic acid levels in cerebrospinal fluid abnormal interlobular vein intima / media morphology abnormal interlobular vein intima / medium morphology abnormal lactate level by magnetic resonance spectroscopy abnormal leave ventricular end - diastolic volume abnormal left ventricular end - diastolic volume abnormal level of creatine kinase in blood abnormal level of platelet - activating factor abnormal levels of creatine kinase in blood abnormal light - adapt 30hz flicker electroretinogram abnormal light - adapt 30hz flicker erg abnormal light - adapt single flash electroretinogram abnormal light - adapted 30hz flicker electroretinogram abnormal light - adapted 30hz flicker erg abnormal light - adapted single flash electroretinogram abnormal low - limb motor evoke potential abnormal lower - limb motor evoked potentials abnormal maturation of long bone of foot abnormal middle phalanx morphology of the hand abnormal morphology of the interlobular vein lumen abnormal muscle fiber lamin a / c abnormal muscle fiber valosin - containing protein abnormal muscle fibre lamin a / c abnormal muscle fibre valosin - containing protein abnormal neck or head of thigh bone abnormal ossification involve bone of the foot abnormal ossification involving bones of the feet abnormal oxygen amount in umbilical cord blood abnormal pelli robson contrast sensitivity chart test abnormal phalangeal joint morphology of the hand abnormal pigmentation in sun - expose skin abnormal pigmentation in sun - exposed skin abnormal pituitary glycoprotein hormone alpha subunit level abnormal proportion of cd4+ central memory cell abnormal proportion of cd4+ central memory cells abnormal proportion of cd4+ effector memory cell abnormal proportion of cd4+ effector memory cells abnormal proportion of marginal zone b cell abnormal proportion of marginal zone b cells abnormal proportion of naive cd4 t cell abnormal proportion of naive cd4 t cells abnormal proportion of naive cd8 t cell abnormal proportion of naive cd8 t cells abnormal proportion of unswitched memory b cell abnormal proportion of unswitched memory b cells abnormal proximal phalanx morphology of the hand abnormal renal arteriole intima / media morphology abnormal renal arteriole intima / medium morphology abnormal response to short act pulmonary vasodilator abnormal response to short acting pulmonary vasodilator abnormal sex hormone - binding globulin level abnormal shape of end part of bone abnormal shape of long bone of hand abnormal shape of long bones of hand abnormal shape of shaft of long bone abnormal spatial orientation of the cardiac segment abnormal spatial orientation of the cardiac segments abnormal surface - connect open canalicular system abnormal surface - connected open canalicular system abnormal synaptic transmission at the neuromuscular junction abnormal tendency to infection of the skin abnormal tendency to infections of the skin abnormal timing of flash visual evoke potential abnormal timing of flash visual evoked potentials abnormal tsh response to trh stimulation test abnormal upper - limb motor evoke potential abnormal upper - limb motor evoked potentials abnormalities of the diaphyses of the hand abnormalities of the metaphyses of the hand abnormality involve the diaphysis of the limb abnormality involve the epiphysis of the limb abnormality involving the diaphyses of the limbs abnormality involving the epiphyses of the limbs abnormality of arm long bone growth plate abnormality of aromatic amino acid family metabolism abnormality of cartilage of septum of nose abnormality of cell of the erythroid lineage abnormality of cell of the granulocytic lineage abnormality of cell of the lymphoid lineage abnormality of cell of the megakaryocyte lineage abnormality of cells of the erythroid lineage abnormality of cells of the granulocytic lineage abnormality of cells of the lymphoid lineage abnormality of cells of the megakaryocyte lineage abnormality of circulate beta2 - m level abnormality of circulating beta2 - m level abnormality of dorsoventral patterning of the limb abnormality of dorsoventral patterning of the limbs abnormality of external feature of the abdomen abnormality of external features of the abdomen abnormality of fatty tissue below the skin abnormality of ganglion of peripheral nervous system abnormality of gonadotropin - release hormone level abnormality of gonadotropin - releasing hormone level abnormality of hairline at back of head abnormality of hairline at front of head abnormality of mastoid process of temporal bone abnormality of neutrophil morphology in cerebrospinal fluid abnormality of ossification / mineralisation of vertebra abnormality of ossification / mineralisation of vertebrae abnormality of pattern onset / offset vep abnormality of pattern reversal visual evoke potential abnormality of pattern reversal visual evoked potentials abnormality of phalangeal joint of the hand abnormality of phalangeal joints of the hand abnormality of proximal middle - finger phalanx abnormality of pyruvate family amino acid metabolism abnormality of serine family amino acid metabolism abnormality of sulfur - contain amino acid abnormality of sulfur - containing amino acids abnormality of the area between the eyebrow abnormality of the area between the eyebrows abnormality of the bone of the forehead abnormality of the bridge of the nose abnormality of the brow of the face abnormality of the cortex of foot bone abnormality of the cortex of foot bones abnormality of the cortex of hand bone abnormality of the cortex of hand bones abnormality of the crus of the ear abnormality of the crus of the helix abnormality of the curvature of the cornea abnormality of the diaphysis of the hand abnormality of the distal phalanx of finger abnormality of the epiphyses of the elbow abnormality of the epiphyses of the feet abnormality of the epiphyses of the fingers abnormality of the epiphyses of the hallux abnormality of the epiphyses of the hand abnormality of the epiphyses of the metatarsals abnormality of the epiphyses of the thumb abnormality of the epiphyses of the toes abnormality of the epiphysis of the elbow abnormality of the epiphysis of the finger abnormality of the epiphysis of the foot abnormality of the epiphysis of the hallux abnormality of the epiphysis of the hand abnormality of the epiphysis of the metatarsal abnormality of the epiphysis of the thumb abnormality of the epiphysis of the toe abnormality of the fontanelle or cranial suture abnormality of the fontanelles or cranial sutures abnormality of the hip - girdle musculature abnormality of the hypothalamus - pituitary axis abnormality of the innermost bone little finger abnormality of the innermost bone pinkie finger abnormality of the innermost bone pinky finger abnormality of the kinin - kallikrein system abnormality of the left ventricular outflow tract abnormality of the level of lipoprotein cholesterol abnormality of the long bone of foot abnormality of the long bone of hand abnormality of the metaphyses of the hand abnormality of the musculature of the hand abnormality of the musculature of the limb abnormality of the musculature of the limbs abnormality of the musculature of the neck abnormality of the musculature of the pelvis abnormality of the musculature of the thigh abnormality of the musculature of the thorax abnormality of the opening between the eyelid abnormality of the opening between the eyelids abnormality of the orbital bone of skull abnormality of the orbital bones of skull abnormality of the outermost 4th toe bone abnormality of the outermost little finger bone abnormality of the outermost pinkie finger bone abnormality of the outermost pinky finger bone abnormality of the parietal bone of skull abnormality of the phalanges of the hallux abnormality of the phalanges of the hand abnormality of the phalanges of the toes abnormality of the phalanx of the hallux abnormality of the phalanx of the hand abnormality of the phalanx of the toe abnormality of the plantar skin of foot abnormality of the protein c anticoagulant pathway abnormality of the proximal 2nd finger phalanx abnormality of the region around the ear abnormality of the region around the eye abnormality of the region around the eyes abnormality of the renin - aldosterone axis abnormality of the roof of the mouth abnormality of the shape of skull bone abnormality of the shape of skull bones abnormality of the shape of the midface abnormality of the sinus of the head abnormality of the sinuses of the head abnormality of the styloid process of ulna abnormality of the suspensory ligament of lens abnormality of the vasculature of the conjunctiva abnormality of the vasculature of the eye abnormality of the vasculature of the neck abnormality of the wide portion of shankbone abnormality of the wide portion of shinbone abnormality of the wing of the ilium abnormality of wide portion of outermost thighbone absence / underdevelopment of inner forearm bone absence of acoustic middle ear muscle reflex absence of acoustic middle ear muscle reflexes absence of cd8 - positive t cell absence of cd8 - positive t cells absence of intermediate von willibrand factor multimers absence of large von willibrand factor multimers absence of part of skin at birth absence of stomach bubble on fetal sonography absence of stomach bubble on foetal sonography absence of the condylar head of mandible absence of the condylar neck of mandible absence of the condylar process of mandible absent / hypoplastic terminal phalanges of toes absent / hypoplastic terminal phalanx of toe absent / small bone of 2nd toe absent / small bone of 3rd toe absent / small bone of 4th toe absent / small bones of 2nd toe absent / small bones of 3rd toe absent / small bones of 4th toe absent / small innermost 2nd toe bone absent / small innermost 4th toe bone absent / small innermost big toe bone absent / small innermost index finger bone absent / small innermost little finger bone absent / small innermost little toe bone absent / small innermost pinkie finger bone absent / small innermost pinkie toe bone absent / small innermost pinky finger bone absent / small innermost pinky toe bone absent / small innermost ring finger bone absent / small long bone of foot absent / small long bone of hand absent / small long bones of hand absent / small middle 3rd toe bone absent / small middle 5th toe bone absent / small middle bone of toe absent / small middle bones of toe absent / small middle index finger bone absent / small middle ring finger bone absent / small outermost 2nd toe bone absent / small outermost 3rd toe bone absent / small outermost big toe bone absent / small outermost bone of toe absent / small outermost bones of toe absent / small outermost index finger bone absent / small outermost little toe bone absent / small outermost middle finger bone absent / small outermost pinkie toe bone absent / small outermost pinky toe bone absent / small outermost ring finger bone absent / underdevelop innermost 2nd toe bone absent / underdevelop innermost 4th toe bone absent / underdevelop innermost 5th toe bone absent / underdevelop innermost big toe bone absent / underdevelop innermost index finger bone absent / underdevelop innermost pinky finger bone absent / underdevelop innermost ring finger bone absent / underdevelop long bone of foot absent / underdevelop long bone of hand absent / underdevelop middle 3rd toe bone absent / underdevelop middle bone of toe absent / underdevelop middle index finger bone absent / underdevelop middle ring finger bone absent / underdevelop outermost 2nd toe bone absent / underdevelop outermost 3rd toe bone absent / underdevelop outermost big toe bone absent / underdevelop outermost bone of toe absent / underdevelop outermost index finger bone absent / underdevelop outermost middle finger bone absent / underdevelop outermost pinky toe bone absent / underdevelop outermost ring finger bone absent / underdeveloped bone of 2nd toe absent / underdeveloped bone of 3rd toe absent / underdeveloped bone of 4th toe absent / underdeveloped bones of 2nd toe absent / underdeveloped bones of 3rd toe absent / underdeveloped bones of 4th toe absent / underdeveloped central nervous system tissue absent / underdeveloped innermost 2nd toe bone absent / underdeveloped innermost 4th toe bone absent / underdeveloped innermost 5th toe bone absent / underdeveloped innermost big toe bone absent / underdeveloped innermost index finger bone absent / underdeveloped innermost pinky finger bone absent / underdeveloped innermost ring finger bone absent / underdeveloped long bone of foot absent / underdeveloped long bones of hand absent / underdeveloped middle 3rd toe bone absent / underdeveloped middle bones of toe absent / underdeveloped middle index finger bone absent / underdeveloped middle ring finger bone absent / underdeveloped outermost 2nd toe bone absent / underdeveloped outermost 3rd toe bone absent / underdeveloped outermost big toe bone absent / underdeveloped outermost bones of toe absent / underdeveloped outermost index finger bone absent / underdeveloped outermost middle finger bone absent / underdeveloped outermost pinky toe bone absent / underdeveloped outermost ring finger bone absent bronchoalveolar dimeric surfactant - protein b absent cone and rod function by electroretinogram absent cone and rod functions by electroretinogram absent digital bone of the 3rd toe absent distal phalanx of the 2nd toe absent distal phalanx of the 3rd toe absent distal phalanx of the 4th toe absent distal phalanx of the second toe absent distal phalanx of the third toe absent dorsal skin crease over affected joint absent dorsal skin creases over affected joints absent end part of big toe bone absent end part of little finger bone absent end part of middle finger bone absent end part of pinkie finger bone absent end part of pinky finger bone absent end part of the 3rd toe absent end part of the toe bone absent end part of the toe bones absent in utero ossification of vertebral bodies absent in utero ossification of vertebral body absent inferior half of the cerebellar vermis absent innermost bone of the 3rd toe absent innermost bone of the 4th toe absent innermost bone of the little toe absent innermost bone of the pinkie toe absent innermost bone of the pinky toe absent middle bone of the 3rd toe absent middle phalanx of the 3rd toe absent middle phalanx of the third toe absent natural antibody to blood group agent absent natural antibody to blood group agents absent ossification / absent proximal thumb phalanx absent ossification / absent terminal thumb phalanx absent outermost bone of the 2nd toe absent outermost bone of the 3rd toe absent outermost bone of the 4th toe absent outermost bone of the little toe absent outermost bone of the pinkie toe absent outermost bone of the pinky toe absent proximal phalanx of the 3rd toe accelerate plaque build - up in artery accelerated plaque build - up in arteries acroosteolysis of distal phalanges ( feet ) acroosteolysis of distal phalanx ( foot ) activate thyroid - stimulate hormone receptor defect activating thyroid - stimulating hormone receptor defect all organ on wrong side of body all organs on wrong side of body almond - shape open between the eyelid almond - shaped opening between the eyelids amyloidosis within arcuate arterial intima / media amyloidosis within arcuate arterial intima / medium amyloidosis within arcuate vein intima / media amyloidosis within arcuate vein intima / medium amyloidosis within interlobular arterial intima / media amyloidosis within interlobular arterial intima / medium amyloidosis within interlobular vein intima / media amyloidosis within interlobular vein intima / medium amyloidosis within renal arteriolar intima / media amyloidosis within renal arteriolar intima / medium amyotrophy involve the musculature of the hand amyotrophy involving the musculature of the hand amyotrophy of the musculature of the pelvis anomalous muscle bundle of the right ventricle anterior bulging of the globe of eye anterior position of the primary palate bone anterior wedging of the 11th thoracic vertebra anterior wedging of the 12th thoracic vertebra anti - carbonic anhydrase ii antibody positivity anti - class i hla antibody positivity anti - class ii hla antibody positivity anti - complement factor h antibody positivity anti - desmoglein - 1 antibody positivity anti - desmoglein - 3 antibody positivity anti - glial fibrillary acidic protein antibody anti - glutamic acid decarboxylase 65 antibody anti - glutamic acid decarboxylase antibody positivity anti - glycoprotein - 210 antibody positivity anti - gm - csf antibody positivity anti - h2a - h2b antibody positivity anti - h3 - h4 antibody positivity anti - hla - a antibody positivity anti - hla - b antibody positivity anti - homer protein homolog 3 antibody anti - human leukocyte antigen antibody positivity anti - jo - 1 antibody positivity anti - lad - 1 antibody positivity anti - metabotropic glutamate receptor 1 antibody anti - multiple nuclear dot antibody positivity anti - multiple nuclear dots antibody positivity anti - myelin oligodendrocyte glycoprotein antibody positivity anti - phospholipase a2 receptor antibody positivity anti - pm - scl antibody positivity anti - protein kinase c gamma antibody anti - purkinje cell cytoplasmic antibody 1 anti - scl - 34 antibody positivity anti - signal recognition particle antibody positivity antigen - specific t cell proliferation defect aplasia / hypoplasia involve the carpal bone aplasia / hypoplasia involve the corticospinal tract aplasia / hypoplasia involve the metacarpal bone aplasia / hypoplasia involve the shoulder musculature aplasia / hypoplasia involve the skeletal musculature aplasia / hypoplasia involve the vertebral column aplasia / hypoplasia involving the carpal bones aplasia / hypoplasia involving the corticospinal tracts aplasia / hypoplasia involving the metacarpal bones aplasia / hypoplasia involving the shoulder musculature aplasia / hypoplasia involving the skeletal musculature aplasia / hypoplasia involving the vertebral column aplasia / hypoplasia of proximal toe phalanx aplasia / hypoplasia of the 1st metacarpal aplasia / hypoplasia of the 1st metatarsal aplasia / hypoplasia of the 2nd finger aplasia / hypoplasia of the 2nd metacarpal aplasia / hypoplasia of the 2nd toe aplasia / hypoplasia of the 3rd finger aplasia / hypoplasia of the 3rd metacarpal aplasia / hypoplasia of the 3rd toe aplasia / hypoplasia of the 4th finger aplasia / hypoplasia of the 4th metacarpal aplasia / hypoplasia of the 4th toe aplasia / hypoplasia of the 5th finger aplasia / hypoplasia of the 5th metacarpal aplasia / hypoplasia of the 5th toe aplasia / hypoplasia of the cerebellar vermis aplasia / hypoplasia of the cervical spine aplasia / hypoplasia of the corpus callosum aplasia / hypoplasia of the distal phalanges aplasia / hypoplasia of the distal phalanx aplasia / hypoplasia of the external ear aplasia / hypoplasia of the fallopian tube aplasia / hypoplasia of the frontal sinus aplasia / hypoplasia of the frontal sinuses aplasia / hypoplasia of the inner ear aplasia / hypoplasia of the intermaxillary bone aplasia / hypoplasia of the middle ear aplasia / hypoplasia of the nasal bone aplasia / hypoplasia of the nasal septum aplasia / hypoplasia of the optic nerve aplasia / hypoplasia of the optic tract aplasia / hypoplasia of the palmar crease aplasia / hypoplasia of the palmar creases aplasia / hypoplasia of the pubic bone aplasia / hypoplasia of the pyramidal tract aplasia / hypoplasia of the sweat gland aplasia / hypoplasia of the sweat glands aplasia / hypoplasia of the tarsal bone aplasia / hypoplasia of the tarsal bones aplasia / hypoplasia of the thyroid gland aplasia cutis congenita of midline scalp vertex aplasia cutis congenita on trunk or limb aplasia cutis congenita on trunk or limbs aplasia cutis congenita over posterior parietal area aplasia cutis congenita over the scalp vertex aplasia involve bone of the low limb aplasia involve bone of the upper limb aplasia involving bones of the lower limbs aplasia involving bones of the upper limbs aplasia of the musculature of the pelvis aplasia of the phalanges of the hallux aplasia of the phalanges of the hand aplasia of the phalanges of the thumb aplasia of the phalanges of the toes aplasia of the phalanx of the hallux aplasia of the phalanx of the hand aplasia of the phalanx of the thumb aplasia of the phalanx of the toe aplastic / hypoplastic phalanges of the hand aplastic / hypoplastic phalanx of the hand arcuate artery intima / media coagulative necrosis arcuate artery intima / media granulomatous arteriitis arcuate artery intima / media liquefactive necrosis arcuate artery intima / medium coagulative necrosis arcuate artery intima / medium granulomatous arteriitis arcuate artery intima / medium liquefactive necrosis arcuate vein intima / media crystal accumulation arcuate vein intima / medium crystal accumulation arcuate vein intimal / medial myxomatous degeneration arcuate vein medial / intimal coagulative necrosis arcuate vein medial / intimal liquefactive necrosis arm and / or leg bone difference arm and / or leg bone differences arteriosclerosis within arcuate arterial intima / media arteriosclerosis within arcuate arterial intima / medium arteriosclerosis within interlobular arterial intima / media arteriosclerosis within interlobular arterial intima / medium arteriovenous fistula of celiac and mesenteric vessel arteriovenous fistula of coeliac and mesenteric vessel arteriovenous fistulas of celiac and mesenteric vessels arteriovenous fistulas of coeliac and mesenteric vessels arteritis within arcuate arterial intima / media arteritis within arcuate arterial intima / medium arteritis within interlobular arterial intima / media arteritis within interlobular arterial intima / medium asymmetrical distribution of flash visual evoke potential asymmetrical distribution of flash visual evoked potentials asymmetry of the position of the ear asymmetry of the position of the ears asymmetry of the shape of the ear asymmetry of the shape of the ears atrial septal defect , ostium secundum type atrophy / degeneration involve the caudate nucleus atrophy / degeneration involve the corticospinal tract atrophy / degeneration involve the spinal cord atrophy / degeneration involving the caudate nucleus atrophy / degeneration involving the corticospinal tracts atrophy / degeneration involving the spinal cord atrophy / degeneration of the corpus callosum atrophy of one side of the face avascular necrosis of the capital femoral epiphysis avoidance of stimuli associated with traumatic event avoidance of stimulus associate with traumatic event beaking of vertebral bodies t12 - l3 beaking of vertebral body t12 - l3 benign neoplasm of the central nervous system bifid terminal phalanx of the 2nd finger bifid terminal phalanx of the 3rd finger bifid terminal phalanx of the 4th finger bifid terminal phalanx of the 5th finger bilateral hypoplasia of condylar process of mandible bilateral superior vena cava with bridging vein bilateral tonic - clonic seizure on awaken bilateral tonic - clonic seizure on awakening bone distal phalanx of manual digit 2 bone distal phalanx of manual digit 3 bone distal phalanx of manual digit 4 bone distal phalanx of manual digit 5 bone distal phalanx of pedal digit 1 bone distal phalanx of pedal digit 3 bone epiphysis of middle phalanx of manus bone fuse metatarsal bone 2 - 4 bone fused metatarsal bones 2 - 4 bone marrow arrest at the promyelocytic stage bone marrow biopsy show megaloblastic erythroid hyperplasia bone marrow biopsy shows megaloblastic erythroid hyperplasia bone middle phalanx of manual digit 2 bone middle phalanx of manual digit 3 bone middle phalanx of manual digit 4 bone middle phalanx of manual digit 5 bone middle phalanx of pedal digit 3 bone proximal epiphysis of first metacarpal bone bone proximal phalanx of manual digit 1 bone proximal phalanx of pedal digit 1 bowing of limb due to multiple fracture bowing of limbs due to multiple fractures bowing of radius bone of the forearm bracket epiphyses of proximal index finger phalanx bracket epiphysis of proximal index finger phalanx bracket proximal epiphysis of the ring finger bracket shape end part of finger bone bracket shape end part of index finger bracket shape end part of long bone bracket shaped end part of finger bones bracket shaped end part of index finger bracket shaped end part of long bone brain and / or spinal cord issue broad , square end of distal phalanx broad , square ends of distal phalanges broad distal phalanx of the 2nd finger broad distal phalanx of the 2nd toe broad distal phalanx of the 3rd finger broad distal phalanx of the 3rd toe broad distal phalanx of the 4th finger broad distal phalanx of the 4th toe broad distal phalanx of the 5th finger broad distal phalanx of the 5th toe broad epiphyseal plate of the upper limb broad epiphyseal plates of the upper limbs broad innermost bone of the big toe broad innermost bone of the little toe broad innermost bone of the pinkie toe broad innermost bone of the pinky toe broad innermost finger bone of the hand broad innermost finger bones of the hand broad middle bone of the 4th finger broad middle bone of the index finger broad middle bone of the little toe broad middle bone of the pinkie toe broad middle bone of the pinky toe broad middle phalanx of the 2nd finger broad middle phalanx of the 2nd toe broad middle phalanx of the 3rd finger broad middle phalanx of the 3rd toe broad middle phalanx of the 4th finger broad middle phalanx of the 4th toe broad middle phalanx of the 5th finger broad middle phalanx of the 5th toe broad outermost bone of the 2nd toe broad outermost bone of the 3rd toe broad outermost bone of the 4th toe broad outermost bone of the 5th toe broad proximal phalanx of the 2nd finger broad proximal phalanx of the 2nd toe broad proximal phalanx of the 3rd finger broad proximal phalanx of the 3rd toe broad proximal phalanx of the 4th finger broad proximal phalanx of the 4th toe broad proximal phalanx of the 5th finger broad proximal phalanx of the 5th toe broad proximal phalanx of the big toe broad shaft of long bone of hand broad wide portion of upper limb bone bullet - shape bone of big toe bullet - shape innermost little finger bone bullet - shape innermost pinkie finger bone bullet - shape innermost pinky finger bone bullet - shape innermost ring finger bone bullet - shape middle little finger bone bullet - shape middle pinkie finger bone bullet - shape middle pinky finger bone bullet - shape outermost little finger bone bullet - shape outermost pinkie finger bone bullet - shape outermost pinky finger bone bullet - shape proximal phalanx of toe bullet - shaped bone of 3rd toe bullet - shaped bone of big toe bullet - shaped bone of middle finger bullet - shaped bones of 3rd toe bullet - shaped bones of middle finger bullet - shaped innermost little finger bone bullet - shaped innermost pinkie finger bone bullet - shaped innermost pinky finger bone bullet - shaped innermost ring finger bone bullet - shaped middle little finger bone bullet - shaped middle pinkie finger bone bullet - shaped middle pinky finger bone bullet - shaped outermost little finger bone bullet - shaped outermost pinkie finger bone bullet - shaped outermost pinky finger bone bullet - shaped phalanges of the hallux bullet - shaped phalanges of the hand bullet - shaped phalanges of the hands bullet - shaped phalanges of the thumb bullet - shaped phalanges of the toes bullet - shaped phalanx of the hallux bullet - shaped phalanx of the hand bullet - shaped phalanx of the thumb bullet - shaped phalanx of the toe bullet - shaped proximal phalanges of toe calcium buildup in soft tissue of body calcium buildup in soft tissues of body cancer start in small tube in kidney cancer starting in small tubes in kidneys capsular hyaline drop within bowman 's capsule capsular hyaline drops within bowman 's capsule cataract , posterior , subcapsular , iridescent cataracts , posterior , subcapsular , iridescent cervical vertebral bodies with decreased anteroposterior diameter cervical vertebral body with decreased anteroposterior diameter childhood onset short - limb short stature chronic ( near ) absent circulate igg1 chronic ( near ) absent circulate igg2 chronic ( near ) absent circulate igg3 chronic ( near ) absent circulate igg4 chronic ( near ) absent circulating igg1 chronic ( near ) absent circulating igg2 chronic ( near ) absent circulating igg3 chronic ( near ) absent circulating igg4 chronic active epstein - barr virus infection chronic rhinitis due to narrow nasal airway chronic villitis ( non - infectious ) clouding of the lens of the eye club - shape innermost end of thighbone club - shape outermost end of thighbone club - shaped innermost end of thighbone club - shaped outermost end of thighbone clumping of elastic fiber in the dermis clumping of elastic fibers in the dermis clumping of elastic fibre in the dermis clumping of elastic fibres in the dermis compensatory head tilt to the left shoulder compensatory head tilt to the right shoulder complete duplication of the 2nd toe bone complete duplication of the 2nd toe bones complete duplication of the little finger bone complete duplication of the pinkie finger bone complete duplication of the pinky finger bone complete heart block with broad qrs complex complete heart block with broad qrs complexes complete heart block with narrow qrs complex complete heart block with narrow qrs complexes condense chromatin of renal tubular epithelial cell condensed chromatin of renal tubular epithelial cells cone - shape terminal thumb phalanx epiphysis cone - shaped end part of bone cone - shaped epiphyses of middle phalanges cone - shaped epiphyses of the fingers cone - shaped epiphyses of the hallux cone - shaped epiphyses of the thumb cone - shaped epiphyses of the toes cone - shaped epiphysis of middle phalanx cone - shaped epiphysis of the finger cone - shaped epiphysis of the hallux cone - shaped epiphysis of the thumb cone - shaped epiphysis of the toe cone - shaped terminal thumb phalanx epiphysis confetti hypopigmentation pattern of low leg skin confetti hypopigmentation pattern of lower leg skin congenital , bilateral , scarlike facial lesion congenital , bilateral , scarlike facial lesions congenital , upward displacement of the scapula congenital cystic adenomatoid malformation of the lung congenital stationary night blindness with abnormal fundus congenital stationary night blindness with normal fundus congenitally correct transposition of the great artery congenitally corrected transposition of the great arteries conjunctival avascular cyst ( filter bleb ) conjunctival avascular cysts ( filtering blebs ) continuous spike and wave during slow sleep continuous spike and waves during slow sleep contracture involve the joint of the foot contractures involving the joints of the feet cortical diaphyseal irregularity of the upper limb cortical diaphyseal irregularity of the upper limbs cortical diaphyseal thickening of the upper limb cortical diaphyseal thickening of the upper limbs cortical radial artery intima / media arteriosclerosis cortical radial artery intima / media multilamellation cortical radial artery intima / media necrosis cortical radial artery intima / medium arteriosclerosis cortical radial artery intima / medium multilamellation cortical radial artery intima / medium necrosis cortical radial artery intimal / medial amyloidosis cortical radial artery medial / intimal arteriitis cortical white matter abnormalities seen on mri cortical white matter abnormality see on mri corticotropin - release hormone deficient adrenal insufficiency corticotropin - releasing hormone deficient adrenal insufficiency crescent / chevron - shaped pulp chamber crescent / chevron - shaped pulp chambers cross - fusion of the forearm bone cross - fusion of the forearm bones crossed asymmetry of flash visual evoke potential crossed asymmetry of flash visual evoked potentials csf anti - nmda receptor antibody positivity curvature of outermost bone of little finger curvature of outermost bone of pinkie finger curvature of outermost bone of pinky finger curve distal phalanx of the 2nd finger curve distal phalanx of the 2nd toe curve distal phalanx of the 3rd finger curve distal phalanx of the 3rd toe curve distal phalanx of the 4th finger curve distal phalanx of the 4th toe curve distal phalanx of the 5th finger curve distal phalanx of the 5th toe curve innermost bone of the 4th toe curve innermost bone of the big toe curve innermost finger bone of the hand curve linear dimple below the low lip curve middle bone of the index finger curve middle bone of the middle finger curve middle finger bond of the hand curve middle phalanx of the 2nd finger curve middle phalanx of the 2nd toe curve middle phalanx of the 3rd finger curve middle phalanx of the 3rd toe curve middle phalanx of the 4th finger curve middle phalanx of the 4th toe curve middle phalanx of the 5th finger curve middle phalanx of the 5th toe curve outermost bone of the 2nd toe curve outermost bone of the 3rd finger curve outermost bone of the 3rd toe curve outermost bone of the 4th toe curve outermost bone of the index finger curve outermost bone of the little toe curve outermost bone of the pinkie toe curve outermost bone of the pinky toe curve outermost finger bone of the hand curve proximal phalanx of the 2nd finger curve proximal phalanx of the 2nd toe curve proximal phalanx of the 3rd finger curve proximal phalanx of the 3rd toe curve proximal phalanx of the 4th finger curve proximal phalanx of the 4th toe curve proximal phalanx of the 5th finger curve proximal phalanx of the 5th toe curve terminal phalanx of the little finger curved distal phalanx of the 2nd finger curved distal phalanx of the 2nd toe curved distal phalanx of the 3rd finger curved distal phalanx of the 3rd toe curved distal phalanx of the 4th finger curved distal phalanx of the 4th toe curved distal phalanx of the 5th finger curved distal phalanx of the 5th toe curved innermost bone of the 4th toe curved innermost bone of the big toe curved innermost finger bones of the hand curved linear dimple below the lower lip curved middle bone of the index finger curved middle bone of the middle finger curved middle finger bonds of the hand curved middle phalanx of the 2nd finger curved middle phalanx of the 2nd toe curved middle phalanx of the 3rd finger curved middle phalanx of the 3rd toe curved middle phalanx of the 4th finger curved middle phalanx of the 4th toe curved middle phalanx of the 5th finger curved middle phalanx of the 5th toe curved outermost bone of the 2nd toe curved outermost bone of the 3rd finger curved outermost bone of the 3rd toe curved outermost bone of the 4th toe curved outermost bone of the index finger curved outermost bone of the little toe curved outermost bone of the pinkie toe curved outermost bone of the pinky toe curved outermost finger bone of the hand curved proximal phalanx of the 2nd finger curved proximal phalanx of the 2nd toe curved proximal phalanx of the 3rd finger curved proximal phalanx of the 3rd toe curved proximal phalanx of the 4th finger curved proximal phalanx of the 4th toe curved proximal phalanx of the 5th finger curved proximal phalanx of the 5th toe curved terminal phalanx of the little finger cutaneous atresia of the external auditory canal cutaneous stenosis of the external auditory canal cutaneous syndactyly between finger 2 and 5 cutaneous syndactyly between fingers 2 and 5 cutaneous syndactyly of second and third toe cutaneous syndactyly of second and third toes cytochrome c oxidase - negative muscle fiber cytochrome c oxidase - negative muscle fibers cytochrome c oxidase - negative muscle fibre cytochrome c oxidase - negative muscle fibres cytochrome c oxidase deficiency in skeletal muscle decrease anterioposterior diameter of lumbar vertebral body decrease circulate 12 - hydroxyeicosatetraenoic acid concentration decrease circulate apolipoprotein c - ii concentration decrease circulate high - density lipoprotein cholesterol decrease circulate high - density lipoprotein level decrease circulate low - density lipoprotein level decrease core 1 o - glycan level decrease g6pd level in dried blood spot decrease g6pd level in red blood cell decrease in blood pressure upon stand up decrease in blood pressure upon standing up decrease in size of half of face decrease leave ventricular end - diastolic volume decrease level of 1,5 anhydroglucitol in serum decrease level of erythritol in cerebrospinal fluid decrease level of histidine - rich glycoprotein decrease level of platelet - activating factor decrease low - density lipoprotein particle size decrease lymphocyte proliferation in response to mitogen decrease pituitary glycoprotein hormone alpha subunit level decrease pituitary glycoprotein polypeptide alpha subunit level decrease post - bronchodilator force vital capacity decrease pre - bronchodilator force vital capacity decrease proportion circulate t - helper cell decrease response to growth hormone stimulation test decrease skeletal muscle cytochrome c oxidase activity decrease specific anti - polysaccharide antibody level decrease specific antibody response to polysaccharide vaccine decrease specific antibody response to protein vaccine decrease waist - to - hip ratio decreased activity of mitochondrial atp synthase complex decreased activity of the pyruvate dehydrogenase complex decreased anterioposterior diameter of lumbar vertebral bodies decreased circulating 12 - hydroxyeicosatetraenoic acid concentration decreased circulating apolipoprotein c - ii concentration decreased circulating high - density lipoprotein cholesterol decreased circulating high - density lipoprotein levels decreased circulating low - density lipoprotein levels decreased core 1 o - glycan level decreased g6pd level in dried blood spot decreased g6pd level in red blood cells decreased height of condylar process of mandible decreased left ventricular end - diastolic volume decreased length of condylar process of mandible decreased level of 1,5 anhydroglucitol in serum decreased level of erythritol in cerebrospinal fluid decreased level of histidine - rich glycoprotein decreased level of platelet - activating factor decreased low - density lipoprotein particle size decreased lymphocyte proliferation in response to mitogen decreased natural antibody to blood group agent decreased natural antibody to blood group agents decreased number of peripheral myelinated nerve fiber decreased number of peripheral myelinated nerve fibers decreased number of peripheral myelinated nerve fibre decreased number of peripheral myelinated nerve fibres decreased pituitary glycoprotein hormone alpha subunit level decreased pituitary glycoprotein polypeptide alpha subunit level decreased post - bronchodilator forced vital capacity decreased pre - bronchodilator forced vital capacity decreased proportion circulating t - helper cells decreased proportion of cd4+ central memory cell decreased proportion of cd4+ central memory cells decreased proportion of cd4+cd25+ regulatory t cell decreased proportion of cd4+cd25+ regulatory t cells decreased proportion of marginal zone b cell decreased proportion of marginal zone b cells decreased proportion of naive cd4 t cell decreased proportion of naive cd4 t cells decreased proportion of naive cd8 t cell decreased proportion of naive cd8 t cells decreased proportion of unswitched memory b cell decreased proportion of unswitched memory b cells decreased respiratory function due to muscle weakness decreased response to growth hormone stimulation test decreased size of alveolar process of jaw decreased size of condylar process of mandible decreased size of frontal region of face decreased size of half of the face decreased size of the primary palate bone decreased skeletal muscle cytochrome c oxidase activity decreased specific anti - polysaccharide antibody level decreased specific antibody response to polysaccharide vaccine decreased specific antibody response to protein vaccine decreased vibratory sense in the low extremity decreased vibratory sense in the low limb decreased vibratory sense in the lower extremities decreased vibratory sense in the lower limbs decreased waist - to - hip ratio defective dna repair after ultraviolet radiation damage defective lymphocyte proliferation to anti - cd3 defective or absent horizontal voluntary eye movement defective or absent horizontal voluntary eye movements defective production of nfkb1 - dependent cytokine defective production of nfkb1 - dependent cytokines deficit in phonologic short - term memory deformity of the area between the eyebrow deformity of the area between the eyebrows deformity of the bone of the nose deformity of the bones of the nose deformity of the bridge of the nose deformity of the dorsum of the nose degeneration of spinal cord anterior horn cell degeneration of spinal cord anterior horn cells delay bone maturation of the knee cap delay ossification of the proximal femoral epiphysis delay relaxation of muscle fiber after contraction delay relaxation of muscle fibre after contraction delay self - feed during toddler year delayed bone maturation of the knee cap delayed ossification of the proximal femoral epiphysis delayed relaxation of muscle fibers after contraction delayed relaxation of muscle fibres after contraction delayed self - feeding during toddler years delta - shaped epiphyses of the fingers delta - shaped epiphysis of the finger delta phalanx / delta - like phalanx dense calcification in the cerebellar dentate nucleus dense calcifications in the cerebellar dentate nucleus dentinogenesis imperfecta of adult and baby teeth dentinogenesis imperfecta of both set of teeth dentinogenesis imperfecta of both sets of teeth dentinogenesis imperfecta of primary and permanent teeth depletion of mitochondrial dna in muscle tissue deposit immunoreactive to beta - amyloid protein deposits immunoreactive to beta - amyloid protein diffuse demyelination of the cerebral white matter diffusion weight imaging ( dwi ) abnormality diffusion weighted imaging ( dwi ) abnormality dilatation of the fusiform descend thoracic aorta dilatation of the fusiform descending thoracic aorta dilatation of the saccular descending thoracic aorta diminish health - related quality of life diminished health - related quality of life displaced hand or finger of the hand displaced hand or fingers of the hand displacement of one backbone compare to another displacement of one backbone compared to another displacement of the male external urethral orifice disproportionate prominence of the femoral medial condyle disruption of blood oxygen supply to brain distal / middle symphalangism of 2nd finger distal / middle symphalangism of 3rd finger distal / middle symphalangism of 4th finger distal / middle symphalangism of 5th finger distal sensory impairment of the low extremity distal sensory impairment of the lower extremities distal sensory loss , especially vibratory sense distal vibratory impairment of the low limb distal vibratory impairment of the lower limbs distortion of the bone of the nose distortion of the bones of the nose dorv with subaortic vsd and pulmonary stenosis dorv with subaortic vsd without pulmonary stenosis dorv with subpulmonary vsd and pulmonary stenosis dorv with subpulmonary vsd without pulmonary stenosis dot - and - blot retinal haemorrhage dot - and - blot retinal hemorrhage double urinary collect system on intravenous pyelography double urinary collecting systems on intravenous pyelography dumbbell shape wide portion of long bone dumbbell shaped wide portion of long bone duplication of bone involve the upper extremity duplication of bone of the ring finger duplication of bones involving the upper extremities duplication of bones of the ring finger duplication of middle bone of 2nd toe duplication of phalanx of the 3rd toe duplication of phalanx of the 4th toe duplication of phalanx of the fourth toe duplication of phalanx of the third toe duplication of the bone of index finger duplication of the bones of index finger duplication of the distal phalanx of hand duplication of the innermost 3rd toe bone duplication of the innermost 4th toe bone duplication of the innermost bone of hand duplication of the innermost bones of hand duplication of the innermost little finger bone duplication of the innermost pinkie finger bone duplication of the innermost pinky finger bone duplication of the middle bone of hand duplication of the middle bones of hand duplication of the middle little finger bone duplication of the middle phalanx of hand duplication of the middle pinkie finger bone duplication of the middle pinky finger bone duplication of the outermost bone of hand duplication of the outermost little finger bone duplication of the outermost pinkie finger bone duplication of the outermost pinky finger bone duplication of the proximal phalanx of hand dynein arm defect of respiratory motile cilia dynein arm defect of respiratory motile cilium ebstein 's anomaly of the tricuspid valve eeg with generalised slow activity grade 1 eeg with generalised slow activity grade 2 eeg with generalised slow activity grade 3 eeg with generalised slow activity grade 4 eeg with generalized slow activity grade 1 eeg with generalized slow activity grade 2 eeg with generalized slow activity grade 3 eeg with generalized slow activity grade 4 eeg with hyperventilation - induced epileptiform discharge eeg with hyperventilation - induced epileptiform discharges electroencephalogram demonstrate spike - slow wave discharge electroencephalogram demonstrated spike - slow wave discharges electron transfer flavoprotein - ubiquinone oxidoreductase defect electroretinogram : reduce b - wave amplitude electroretinogram : reduced b - wave amplitude elevate 8 ( 9 ) - cholestenol elevate cancer ag 19 - 9 level elevate circulate 2 - hydroxybutyric acid concentration elevate circulate 3 - hydroxybutyric acid concentration elevate circulate 4 - hydroxyphenylacetic acid concentration elevate circulate alpha - aminobutyric acid concentration elevate circulate apolipoprotein a - ii concentration elevate circulate apolipoprotein a - iv concentration elevate circulate apolipoprotein c - iii concentration elevate circulate c - reactive protein concentration elevate circulate gamma - aminobutyric acid concentration elevate circulate l - pyroglutamic acid concentration elevate circulate long chain fatty acid concentration elevate circulate thyroid - stimulate hormone concentration elevate circulating cartilage oligomeric matrix protein concentration elevate csf 4 - hydroxybutyric acid concentration elevate csf gamma - aminobutyric acid concentration elevate csf glial fibrillary acidic protein level elevate forced expiratory volume in one second elevate n , n - dimethylglycine level elevate phospho - creatine kinase after exercise elevate plasma glutarylcarnitine , c5 - dc elevate proportion of cd4+ central memory cell elevate proportion of cd4+cd25+ regulatory t cell elevate proportion of naive cd4 t cell elevate proportion of naive cd8 t cell elevate proportion of unswitched memory b cell elevate serum long - chain fatty acid elevate tissue non - specific alkaline phosphatase elevate urinary n - acetylaspartic acid level elevate urinary tamm - horsfall protein concentration elevate urine 4 - hydroxyphenylacetic acid level elevated 8 ( 9 ) - cholestenol elevated cancer ag 19 - 9 level elevated circulating 2 - hydroxybutyric acid concentration elevated circulating 3 - hydroxybutyric acid concentration elevated circulating 4 - hydroxyphenylacetic acid concentration elevated circulating alpha - aminobutyric acid concentration elevated circulating apolipoprotein a - ii concentration elevated circulating apolipoprotein a - iv concentration elevated circulating apolipoprotein c - iii concentration elevated circulating c - reactive protein concentration elevated circulating cartilage oligomeric matrix protein concentration elevated circulating gamma - aminobutyric acid concentration elevated circulating l - pyroglutamic acid concentration elevated circulating long chain fatty acid concentration elevated circulating thyroid - stimulating hormone concentration elevated csf 4 - hydroxybutyric acid concentration elevated csf gamma - aminobutyric acid concentration elevated csf glial fibrillary acidic protein level elevated forced expiratory volume in one second elevated n , n - dimethylglycine level elevated phospho - creatine kinase after exercise elevated plasma glutarylcarnitine , c5 - dc elevated proportion of cd4+ central memory cells elevated proportion of cd4+cd25+ regulatory t cells elevated proportion of naive cd4 t cells elevated proportion of naive cd8 t cells elevated proportion of unswitched memory b cells elevated serum long - chain fatty acids elevated tissue non - specific alkaline phosphatase elevated urinary n - acetylaspartic acid level elevated urinary tamm - horsfall protein concentration elevated urine 4 - hydroxyphenylacetic acid level elongate chordae tendinae of the mitral valve elongated chordae tendinae of the mitral valve emg : spontaneous , repetitive electrical activity end - organ unresponsiveness to thyroid hormone endoarterial hypercellularity within arteriole consist of lymphocyte endoarterial hypercellularity within arteriole consist of neutrophil endoarterial hypercellularity within arterioles consisting of lymphocytes endoarterial hypercellularity within arterioles consisting of neutrophils endopolyploidy on chromosome studies of bone marrow endopolyploidy on chromosome study of bone marrow enlarge sagittal diameter of the cervical canal enlarge wide portion of a long bone enlarged end part of middle finger bone enlarged end part of the index finger enlarged end part of the toe bone enlarged end part of the toe bones enlarged end part of thumb long bone enlarged sagittal diameter of the cervical canal enlarged wide portion of a long bone enlargement of the outermost thighbone end part epidural arachnoid cyst of the spinal canal epidural arachnoid cysts of the spinal canal epihyseal plate abnormality of the upper limb epihyseal plate abnormality of the upper limbs epiphyseal abnormality of terminal index finger phalanx eversion of lateral third of low eyelid eversion of lateral third of lower eyelids excessive wrinkle skin of palm and sol excessive wrinkled skin of palms and soles expand terminal portion of crus of helix expanded terminal portion of crus of helix extra cartilage in front of the ear extra cusp on inside of front tooth extra toe attach near the little toe extra toe attached near the little toe extreme sensitivity of the eye to light extreme sensitivity of the eyes to light extremely elevate phospho - ck serum level extremely elevated phospho - ck serum level face with broad temple and narrow chin face with broad temples and narrow chin failure of dental eruption due to mucopolysaccharidoses failure of development of cartilage of nose failure of development of cupid 's bow failure of development of first permanent molar failure of development of mandibular central incisor failure of development of mandibular lateral incisor failure of development of maxillary central incisor failure of development of maxillary lateral incisor failure of development of nasal septal cartilage failure of development of second permanent molar failure of development of six year molar failure of development of some deciduous teeth failure of development of some primary teeth failure of development of the nasal bone failure of development of twelve year molar failure of development of upper jaw bone failure of development of upper jaw bones failure of eruption of multiple adult teeth failure of eruption of multiple permanent teeth failure of tooth eruption due to mucopolysaccharidoses failure to thrive secondary to recurrent infection failure to thrive secondary to recurrent infections fatty deposit in skin around the eye fatty deposits in skin around the eyes few cafe - au - lait spot few cafe - au - lait spots filling of the alveoli with alveolar macrophages filling of the alveolus with alveolar macrophage fix splitting of the second heart sound fixed splitting of the second heart sound flat light - brown mark on skin flatten head of long bone of foot flatten head of long bone of hand flattened head of long bone of foot flattened head of long bone of hand flexed joint that can not be straighten flexed joint that can not be straightened fluid - fill cyst in spinal cord fluid - filled cyst in spinal cord focal autonomic seizure with pallor / flushing focal aware cognitive seizure with auditory agnosia focal aware cognitive seizure with forced thinking focal aware cognitive seizure with memory impairment focal aware motor seizure with negative myoclonus focal aware sensory seizure with auditory feature focal aware sensory seizure with auditory features focal aware sensory seizure with cephalic sensation focal aware sensory seizure with gustatory feature focal aware sensory seizure with gustatory features focal aware sensory seizure with olfactory feature focal aware sensory seizure with olfactory features focal aware sensory seizure with somatosensory feature focal aware sensory seizure with somatosensory features focal aware sensory seizure with vestibular feature focal aware sensory seizure with vestibular features focal aware sensory seizure with visual feature focal aware sensory seizure with visual features focal cognitive seizure with dyscalculia / acalculia focal cognitive seizure with dysgraphia / agraphia focal cognitive seizure with dyslexia / alexia focal hypopigmentation of the retinal pigment epithelium focal impair awareness autonomic seizure with erection focal impair awareness autonomic seizure with lacrimation focal impair awareness autonomic seizure with piloerection focal impair awareness cognitive seizure with anomia focal impair awareness cognitive seizure with hallucination focal impair awareness cognitive seizure with illusion focal impair awareness cognitive seizure with neglect focal impair awareness emotional seizure with agitation focal impair awareness emotional seizure with anger focal impair awareness emotional seizure with cry focal impair awareness emotional seizure with laugh focal impair awareness emotional seizure with paranoia focal impair awareness emotional seizure with pleasure focal impair awareness head nod automatism seizure focal impair awareness motor seizure with dystonia focal impair awareness motor seizure with version focal impair awareness non - motor seizure focal impaired awareness autonomic seizure with erection focal impaired awareness autonomic seizure with lacrimation focal impaired awareness autonomic seizure with piloerection focal impaired awareness cognitive seizure with anomia focal impaired awareness cognitive seizure with hallucination focal impaired awareness cognitive seizure with illusion focal impaired awareness cognitive seizure with neglect focal impaired awareness emotional seizure with agitation focal impaired awareness emotional seizure with anger focal impaired awareness emotional seizure with crying focal impaired awareness emotional seizure with laughing focal impaired awareness emotional seizure with paranoia focal impaired awareness emotional seizure with pleasure focal impaired awareness head nodding automatism seizure focal impaired awareness motor seizure with dystonia focal impaired awareness motor seizure with version focal impaired awareness non - motor seizure focal motor aware seizure with negative myoclonus focal motor impair awareness seizure with dystonia focal motor impair awareness seizure with version focal motor impaired awareness seizure with dystonia focal motor impaired awareness seizure with version focal motor seizure with dysarthria / anarthria focal motor seizure with paresis / paralysis focal necrosis of right ventricular muscle cell focal necrosis of right ventricular muscle cells focal non - motor impaired awareness seizure focal to bilateral tonic - clonic seizure folate - dependent fragile site at xq28 foveal intraretinal hyporeflective space on macular oct foveal intraretinal hyporeflective spaces on macular oct foveal photoreceptor layer loss on macular oct foveal subretinal hyporeflective space on macular oct foveal subretinal hyporeflective spaces on macular oct fracture distal phalanx of manual digit 2 fracture distal phalanx of manual digit 3 fracture distal phalanx of manual digit 4 fracture distal phalanx of manual digit 5 fracture distal phalanx of pedal digit 1 fracture distal phalanx of pedal digit 3 fracture fuse metatarsal bone 2 - 4 fracture middle phalanx of manual digit 2 fracture middle phalanx of manual digit 3 fracture middle phalanx of manual digit 4 fracture middle phalanx of manual digit 5 fracture middle phalanx of pedal digit 3 fracture proximal epiphysis of first metacarpal bone fracture proximal phalanx of manual digit 1 fracture proximal phalanx of pedal digit 1 fractured distal phalanx of manual digit 2 fractured distal phalanx of manual digit 3 fractured distal phalanx of manual digit 4 fractured distal phalanx of manual digit 5 fractured distal phalanx of pedal digit 1 fractured distal phalanx of pedal digit 3 fractured epiphysis of middle phalanx of manus fractured fused metatarsal bones 2 - 4 fractured middle phalanx of manual digit 2 fractured middle phalanx of manual digit 3 fractured middle phalanx of manual digit 4 fractured middle phalanx of manual digit 5 fractured middle phalanx of pedal digit 3 fractured proximal epiphysis of first metacarpal bone fractured proximal phalanx of manual digit 1 fractured proximal phalanx of pedal digit 1 fragment , irregular end part of bone fragmentation of end part of finger bone fragmentation of end part of finger bones fragmentation of the epiphyses of the fingers fragmentation of the epiphyses of the hallux fragmentation of the epiphyses of the thumb fragmentation of the epiphyses of the toes fragmentation of the epiphysis of the finger fragmentation of the epiphysis of the hallux fragmentation of the epiphysis of the thumb fragmentation of the epiphysis of the toe fragmented , irregular end part of bone fragmented end part of upper limb bone fragmented end part of upper limb bones full thickness defect of the low eyelid full thickness defect of the lower eyelid full thickness defect of the upper eyelid fuse innermost and middle index finger bone fuse innermost and middle little toe bone fuse innermost and middle pinkie toe bone fuse innermost and middle pinky toe bone fuse innermost bone of the 2nd toe fuse outermost and middle index finger bone fuse outermost bone of the 2nd toe fuse outermost bone of the 4th toe fuse outermost bone of the little toe fuse outermost bone of the pinkie toe fuse outermost bone of the pinky toe fused innermost and middle index finger bones fused innermost and middle little toe bones fused innermost and middle pinkie toe bones fused innermost and middle pinky toe bones fused innermost bone of the 2nd toe fused outermost and middle index finger bones fused outermost bone of the 2nd toe fused outermost bone of the 4th toe fused outermost bones of the little toe fused outermost bones of the pinkie toe fused outermost bones of the pinky toe fusion involve 1st long bone of hand fusion involve bone of the upper limb fusion involve the bone of the foot fusion involving 1st long bone of hand fusion involving bones of the upper limbs fusion involving the bones of the feet fusion of cervical vertebra c2 - 3 fusion of cervical vertebrae c2 - 3 fusion of innermost shinbone and calf bone fusion of the left and right thalami fusion of the left and right thalamus fusion of upper and low arm bone fusion of upper and lower arm bones gait instability , bad in the dark gait instability , worse in the dark gastro - jejunal tube feeding in infancy generalise - onset tonic - clonic seizure generalise myoclonic - tonic - clonic seizure generalise tonic - clonic seizure on awaken generalised - onset tonic - clonic seizure generalised muscle atrophy , proximal and distal generalised myoclonic - tonic - clonic seizure generalised tonic - clonic seizures on awakening generalize - onset tonic - clonic seizure generalize muscle atrophy , proximal and distal generalize myoclonic - tonic - clonic seizure generalize tonic - clonic seizure on awaken generalized - onset tonic - clonic seizure generalized muscle atrophy , proximal and distal generalized myoclonic - tonic - clonic seizure generalized tonic - clonic seizures on awakening glial remnant anterior to the optic disc glial remnants anterior to the optic disc glomerular capillary wall duplication with cellular interposition glomerular capillary wall duplication without cellular interposition gonadal dysgenesis with female appearance , male granulomatous arteriolitis within arteriolar intima / media granulomatous arteriolitis within arteriolar intima / medium ground - glass opacification on pulmonary hrct group congenital hypertrophy of retinal pigment epithelium grouped congenital hypertrophy of retinal pigment epithelium growth of abnormal tissue under the skin h - shaped dimple of the chin hair loss on scalp from scar condition hair loss on scalp from scarring condition harden artery wall in small cerebral artery hardened artery wall in small cerebral arteries helix , crus , connect to antihelix helix , crus , connected to antihelix helix , crus , expand terminal portion helix , crus , expanded terminal portion hemangioma , facial , plaque - like hemolytic anaemia follow ingestion of fava bean hemolytic anaemia following ingestion of fava beans hemolytic anemia follow ingestion of fava bean hemolytic anemia following ingestion of fava beans hemosiderin - laden macrophage in bronchoalveolar fluid hemosiderin - laden macrophages in bronchoalveolar fluid high aspartic acid level in cerebrospinal fluid high aspartic acid levels in cerebrospinal fluid high frequency of chromosome break in lymphocyte high frequency of chromosome breaks in lymphocytes high glutamic acid level in cerebrospinal fluid high glutamic acid levels in cerebrospinal fluid high level of isoleucine in cerebrospinal fluid high levels of isoleucine in cerebrospinal fluid hoarse voice due to vocal cord paresis hole in the back of the eye horizontal orientation of the crus of helix hyperintensity of cerebral white matter on mri hyperplasia of the glomerular parietal epithelial cell hypersegmentation of neutrophil nuclei in cerebrospinal fluid hypersegmentation of neutrophil nuclei in peripheral blood hypersegmentation of neutrophil nucleus in cerebrospinal fluid hypersegmentation of neutrophil nucleus in peripheral blood hypersegmentation of proximal phalanx of second finger hypersegmentation of proximal phalanx of third finger hypertrophy of the glomerular parietal epithelial cell hypointensity of cerebral white matter on mri hypoplasia involve bone of the low limb hypoplasia involve bone of the upper limb hypoplasia involving bones of the lower limbs hypoplasia involving bones of the upper limbs hypoplasia of the crus of the ear hypoplasia of the musculature of the pelvis hypoplasia of the phalanges of the toes hypoplasia of the phalanx of the toe hypoplasia or absence of the corpus callosum hypoplastic / small phalanges of the hand hypoplastic / small phalanges of the thumb hypoplastic / small phalanx of the hand hypoplastic / small phalanx of the thumb hypoplastic middle phalanx of the 5th finger hyposegmentation of neutrophil nuclei in cerebrospinal fluid hyposegmentation of neutrophil nuclei in peripheral blood hyposegmentation of neutrophil nucleus in cerebrospinal fluid hyposegmentation of neutrophil nucleus in peripheral blood hypothalamic luteinizing hormone - release hormone deficiency hypothalamic luteinizing hormone - releasing hormone deficiency idiopathic cutaneous hyperchromia at the orbital region ige - mediate alpha - gal allergy ige - mediate house dust mite allergy ige - mediate nut food product allergy ige - mediated alpha - gal allergy ige - mediated house dust mite allergy ige - mediated nut food product allergy immunoglobulin e - mediate animal dander allergy immunoglobulin e - mediate animal protein allergy immunoglobulin e - mediate cow milk allergy immunoglobulin e - mediate dust mite allergy immunoglobulin e - mediate insect bite allergy immunoglobulin e - mediate meat allergen allergy immunoglobulin e - mediate plant product allergy immunoglobulin e - mediated animal dander allergy immunoglobulin e - mediated animal protein allergy immunoglobulin e - mediated cow milk allergy immunoglobulin e - mediated dust mite allergy immunoglobulin e - mediated insect bite allergy immunoglobulin e - mediated meat allergen allergy immunoglobulin e - mediated plant product allergy impair visually enhance vestibulo - ocular reflex impaired ag - specific t cell proliferation impaired annexin v bind to platelet phosphatidylserine impaired annexin v binding to platelet phosphatidylserine impaired arachidonic acid - induced platelet aggregation impaired binding of factor viii to vwf impaired ca ionophore - induced platelet aggregation impaired ca2+ ionophore - induced platelet aggregation impaired calcium ionophore - induced platelet aggregation impaired cortisol response to glucagon stimulation test impaired cortisol response to insulin stimulation test impaired renal tubular reabsorption of uric acid impaired vibration sensation in the low limb impaired vibration sensation in the lower limbs impaired visually enhanced vestibulo - ocular reflex impaired von willibrand factor collagen binding activity inability to close the eyelid at night inability to close the eyelids at night inability to walk by childhood / adolescence inactivate thyroid - stimulate hormone receptor defect inactivating thyroid - stimulating hormone receptor defect inappropriately normal thyroid - stimulate hormone level inappropriately normal thyroid - stimulating hormone level incomplete partition of the cochlea type i incomplete partition of the cochlea type ii increase annexin v bind to platelet phosphatidylserine increase anti - bacteria ige antibody level increase anti - dairy ige antibody level increase anti - drug ige antibody level increase anti - egg ige antibody level increase anti - feather ige antibody level increase anti - fungal ige antibody level increase anti - fungi ige antibody level increase anti - fungus ige antibody level increase anti - gluten ige antibody level increase anti - insect ige antibody level increase anti - parasite ige antibody level increase anti - seafood ige antibody level increase anti - venom ige antibody level increase arm - leg blood pressure gradient increase aromatic amino acid level in urine increase bone density in 2nd finger bone increase bone density in 2nd toe bone increase bone density in 3rd toe bone increase bone density in 4th toe bone increase bone density in big toe bone increase bone density in innermost finger bone increase bone density in innermost toe bone increase bone density in little finger bone increase bone density in little toe bone increase bone density in middle finger bone increase bone density in middle toe bone increase bone density in outermost finger bone increase bone density in pinkie finger bone increase bone density in pinkie toe bone increase bone density in pinky finger bone increase bone density in pinky toe bone increase bone density in ring finger bone increase bone density in the finger bone increase bone density in the toe bone increase circulate alpha - ketoisocaproic acid concentration increase circulate high - density lipoprotein level increase circulate low - density lipoprotein cholesterol increase circulate low - density lipoprotein level increase circulate n - acetyl aspartate level increase circulate n - acetylaspartic acid concentration increase circulate taurine level in the blood increase circulate thyroxine - binding globulin level increase concentration of fucosylated oligosaccharide in urine increase concentration of galactosylated oligosaccharide in urine increase core 1 o - glycan level increase csf n - acetylaspartic acid concentration increase cup - to - disc ratio increase density of shaft of long bone increase fat below the skin in trunk increase front to back length of eyeball increase g6pd level in dried blood spot increase g6pd level in red blood cell increase in size of half of face increase in size of the facial bone increase in size of the facial bones increase leave ventricular end - diastolic volume increase level of hippuric acid in blood increase level of hippuric acid in urine increase level of ketone body in blood increase level of methylsuccinic acid in urine increase level of myristic acid in serum increase level of platelet - activating factor increase level of propylene glycol in blood increase level of pyrotartaric acid in urine increase level of ribitol in cerebrospinal fluid increase level of ribose in cerebrospinal fluid increase level of sialic acid in fibroblast increase level of tetradecanoic acid in serum increase level of xylitol in cerebrospinal fluid increase n - acetylaspartate level in csf increase o - galnac on glycoprotein concentration increase overlap of upper and low incisor increase phospho - creatine kinase after exercise increase pigmentation in sun - expose area increase pituitary glycoprotein hormone alpha subunit level increase pituitary glycoprotein polypeptide alpha subunit level increase post - void residual urine volume increase proportion of cd4+ central memory cell increase proportion of cd4+cd25+ regulatory t cell increase proportion of hla dr+ t cell increase proportion of marginal zone b cell increase proportion of naive cd4 t cell increase proportion of naive cd8 t cell increase proportion of unswitched memory b cell increase proteinogenic amino acid level in urine increase red cell hemolysis by shear stress increase respiratory rate or depth of breathe increase serine family amino acid in urine increase serum bile acid concentration during pregnancy increase serum bone - specific alkaline phosphatase increase serum long - chain fatty acid increase size of frontal region of face increase size of half of the tongue increase size of permanent maxillary central incisor increase size of permanent upper central incisor increase size of the primary palate bone increase space between first and second toe increase sulfur amino acid level in urine increase sulphur amino acid level in urine increase susceptibility to spontaneous sister chromatid exchange increase urinary neutrophil gelatinase - associate lipocalin increase urinary renal tubular epithelial cell count increase urine 3 - hydroxyisovaleric acid level increase urine 8 - oxo - gmp increase urine alpha - ketoisocaproic acid level increase urine proteinogenic amino acid derivative level increase waist - to - hip ratio increase width of permanent maxillary central incisor increase width of permanent upper central incisor increased annexin v binding to platelet phosphatidylserine increased anti - bacteria ige antibody level increased anti - dairy ige antibody level increased anti - drug ige antibody level increased anti - egg ige antibody level increased anti - feather ige antibody level increased anti - fungal ige antibody level increased anti - fungi ige antibody level increased anti - fungus ige antibody level increased anti - gluten ige antibody level increased anti - insect ige antibody level increased anti - parasite ige antibody level increased anti - seafood ige antibody level increased anti - venom ige antibody level increased arm - leg blood pressure gradient increased aromatic amino acid level in urine increased bone density in 2nd finger bone increased bone density in 2nd toe bone increased bone density in 3rd toe bone increased bone density in 4th toe bone increased bone density in big toe bone increased bone density in innermost finger bone increased bone density in innermost toe bone increased bone density in little finger bone increased bone density in little toe bone increased bone density in middle finger bone increased bone density in middle toe bone increased bone density in outermost finger bone increased bone density in pinkie finger bone increased bone density in pinkie toe bone increased bone density in pinky finger bone increased bone density in pinky toe bone increased bone density in ring finger bone increased bone density in the finger bone increased bone density in the toe bone increased circulating alpha - ketoisocaproic acid concentration increased circulating high - density lipoprotein levels increased circulating low - density lipoprotein cholesterol increased circulating low - density lipoprotein levels increased circulating n - acetyl aspartate level increased circulating n - acetylaspartic acid concentration increased circulating taurine levels in the blood increased circulating thyroxine - binding globulin level increased concentration of fucosylated oligosaccharides in urine increased concentration of galactosylated oligosaccharides in urine increased core 1 o - glycan level increased csf n - acetylaspartic acid concentration increased cup - to - disc ratio increased density of shaft of long bone increased fat below the skin in trunk increased front to back length of eyeball increased g6pd level in dried blood spot increased g6pd level in red blood cells increased left ventricular end - diastolic volume increased level of animo acid in urine increased level of hippuric acid in blood increased level of hippuric acid in urine increased level of ketone bodies in blood increased level of methylsuccinic acid in urine increased level of myristic acid in serum increased level of platelet - activating factor increased level of propylene glycol in blood increased level of pyrotartaric acid in urine increased level of ribitol in cerebrospinal fluid increased level of ribose in cerebrospinal fluid increased level of sialic acid in fibroblasts increased level of tetradecanoic acid in serum increased level of xylitol in cerebrospinal fluid increased levels of animo acids in urine increased muscle tone of arm or leg increased n - acetylaspartate levels in csf increased number of immature red blood cell increased number of immature red blood cells increased o - galnac on glycoprotein concentration increased overlap of upper and lower incisors increased phospho - creatine kinase after exercise increased pigmentation in sun - exposed areas increased pituitary glycoprotein hormone alpha subunit level increased pituitary glycoprotein polypeptide alpha subunit level increased post - void residual urine volume increased proportion of cd4+ central memory cells increased proportion of cd4+cd25+ regulatory t cells increased proportion of hla dr+ t cells increased proportion of marginal zone b cells increased proportion of naive cd4 t cells increased proportion of naive cd8 t cells increased proportion of unswitched memory b cells increased proteinogenic amino acid level in urine increased red cell hemolysis by shear stress increased respiratory rate or depth of breathing increased serine family amino acid in urine increased serum bile acid concentration during pregnancy increased serum bone - specific alkaline phosphatase increased serum long - chain fatty acids increased size of frontal region of face increased size of half of the tongue increased size of permanent maxillary central incisor increased size of permanent upper central incisor increased size of the primary palate bone increased space between first and second toes increased sulfur amino acid level in urine increased sulphur amino acid level in urine increased susceptibility to spontaneous sister chromatid exchange increased thickness of bone of skull base increased urinary neutrophil gelatinase - associated lipocalin increased urinary renal tubular epithelial cell count increased urine 3 - hydroxyisovaleric acid level increased urine 8 - oxo - gmp increased urine alpha - ketoisocaproic acid level increased urine proteinogenic amino acid derivative level increased waist - to - hip ratio increased width of permanent maxillary central incisor increased width of permanent upper central incisor infancy onset short - trunk short stature inflammation of tissue line lung and chest inflammation of tissues lining lungs and chest inner retinal layer loss on macular oct insufficient response to short act pulmonary vasodilator insufficient response to short acting pulmonary vasodilator insulin - resistant diabetes mellitus at puberty interlobular line ( pulmonary ct finding ) interlobular lines ( pulmonary ct finding ) interlobular vein intima / media coagulative necrosis interlobular vein intima / media granulomatous venulitis interlobular vein intima / media liquefactive necrosis interlobular vein intima / media onion skinning interlobular vein intima / medium coagulative necrosis interlobular vein intima / medium granulomatous venulitis interlobular vein intima / medium liquefactive necrosis interlobular vein intima / medium onion skin interrupt inferior vena cava with azygous continuation interrupted inferior vena cava with azygous continuation intracellular accumulation of autofluorescent lipopigment storage material involuntary , rapid , rhythmic eye movement involuntary , rapid , rhythmic eye movements irregular articular surface of the elbow joint irregular articular surfaces of the elbow joints irregular end part of big toe bone irregular end part of middle finger bone irregular end part of middle hand bone irregular end part of middle hand bones irregular end part of the elbow bone irregular end part of the index finger irregular end part of the toe bone irregular end part of the toe bones irregular end part of thumb long bone irregular end part of thumb outermost bone irregular end part of upper limb bone irregular end part of upper limb bones irregular wide portion of a long bone irregular wide portion of upper limb bone irregular wide portion of upper limb bones irregularity of wide portion of calf bone ivory epiphysis of terminal index finger phalanx joint move beyond expect range of motion joints move beyond expected range of motion l - looping of the right ventricle lack of coordinated beating of respiratory cilia lack of coordinated beating of respiratory cilium lack of development of the nasal bone lack of facial fat below the skin lack of fatty tissue below the skin lack of feeling , emotion , interest lack of gonadotropin - release hormone pulsatility lack of gonadotropin - releasing hormone pulsatility large central loss of field of vision large epiphysis of proximal index finger phalanx leakage of dye on fundus fluorescein angiography leave aortic arch with isolated subclavian artery left aortic arch with isolated subclavian artery lip pit at corner of the mouth lip pits at corners of the mouth lipid - laden macrophage in bronchoalveolar fluid lipid - laden macrophages in bronchoalveolar fluid liver kidney microsome type 1 antibody positivity long chain 3 hydroxyacyl coa dehydrogenase deficiency long hair grow from helix of ear long hair grow from helix of pinna long hairs growing from helix of ear long hairs growing from helix of pinna loss of adipose tissue around the neck loss of fat tissue in localised area loss of fat tissue in localized area loss of spinal cord anterior horn cell loss of spinal cord anterior horn cells loss of subcutaneous adipose tissue from extremities loss of subcutaneous adipose tissue from extremity loss of subcutaneous adipose tissue from face loss of subcutaneous adipose tissue in limb loss of subcutaneous adipose tissue in limbs low - set , posteriorly rotate ear low - set , posteriorly rotated ears low - to - normal blood pressure low glucose level in cerebral spinal fluid low glucose levels in cerebral spinal fluid low glutamic acid level in cerebrospinal fluid low glutamic acid levels in cerebrospinal fluid low level of hydroxyproline in the blood low level of isoleucine in cerebrospinal fluid low levels of isoleucine in cerebrospinal fluid low muscle tone , in neonatal onset low solidness and mass of the bone low solidness and mass of the bones low specific anti - polysaccharide antibody titer low threonine level in the cerebrospinal fluid low threonine levels in the cerebrospinal fluid low tissue non - specific alkaline phosphatase low tyrosine level in the cerebrospinal fluid low tyrosine levels in the cerebrospinal fluid lytic defect of middle index finger phalanx lytic defect of proximal index finger phalanx lytic defects of middle index finger phalanx lytic defects of proximal index finger phalanx malalignment of upper and low dental arch malalignment of upper and lower dental arches malformation of the area between the eyebrow malformation of the area between the eyebrows malformation of the bone of the nose malformation of the bones of the nose malformation of the bridge of the nose malignant neoplasm of the central nervous system map - dot - fingerprint corneal dystrophy mark delay in eruption of permanent teeth marked delay in eruption of permanent teeth maturation arrest of spermatogenesis at spermatid stage maturity - onset diabetes of the young medial calcification of medium - sized arteries medial calcification of medium - sized artery misalignment of upper and low dental arch misalignment of upper and lower dental arches monkey wrench configuration of the proximal femur morphological abnormality of the anterior semicircular canal morphological abnormality of the central nervous system morphological abnormality of the horizontal semicircular canal morphological abnormality of the lateral semicircular canal morphological abnormality of the posterior semicircular canal multilamellation of cortical peritubular capillary basement membrane multilamellation of cortical peritubular capillary basement membranes multilamellation of medullary peritubular capillary basement membrane multilamellation of medullary peritubular capillary basement membranes multiple cafe - au - lait spot multiple cafe - au - lait spots muscle atrophy , low limb , distal muscle atrophy , lower limb , distal muscle fiber desmin - reactive inclusion bodies muscle fiber desmin - reactive inclusion body muscle fibre desmin - reactive inclusion bodies muscle fibre desmin - reactive inclusion body muscle weakness , low limb , distal muscle weakness , lower limb , distal muscle weakness , proximal , low limb muscle weakness , proximal , lower limbs myelin - like whorl in vacuolated fiber myelin - like whorl in vacuolated fibre myelin - like whorls in vacuolated fibers myelin - like whorls in vacuolated fibres narrow , highly arched roof of mouth narrow anterio - posterior vertebral body diameter necrosis within arcuate vein intima / media necrosis within arcuate vein intima / medium necrosis within interlobular arterial intima / media necrosis within interlobular arterial intima / medium necrosis within interlobular vein intima / media necrosis within interlobular vein intima / medium neonatal wrinkle skin of hand and foot neonatal wrinkled skin of hands and feet nerve damage cause decrease feeling and movement nerve damage causing decreased feeling and movement neuronal / glioneuronal neoplasm of the cns neuronal and mixed neuronal - glial tumor neuronal and mixed neuronal - glial tumour night blindness , congenital stationary , complete no light - evoked response on electroretinogram nodular - perilymphatic pattern on pulmonary hrct nodular - random pattern on pulmonary hrct non - convulsive status epilepticus with coma non - convulsive status epilepticus without coma notch outermost bone of the index finger notch outermost bone of the middle finger notch outermost bone of the ring finger notched outermost bone of the index finger notched outermost bone of the middle finger notched outermost bone of the ring finger nystagmus , horizontal , gaze - evoke nystagmus , horizontal , gaze - evoked open bite between upper and low teeth open bite between upper and lower teeth osseous atresia of the external auditory canal osseous stenosis of the external auditory canal osteolysis involve bone of the low limb osteolysis involve bone of the upper limb osteolysis involving bones of the lower limbs osteolysis involving bones of the upper limbs osteolytic defect of the proximal toe phalanx osteosclerosis of the base of the skull overgrowth of innermost part of calf bone overgrowth of the inside of the skull pachygyria with cortical thickness > 10 mm pachygyria with cortical thickness above 10 mm paradoxical splitting of the second heart sound paralysis of both side of the face paralysis of both sides of the face paralysis of one side of the face parkinsonism with favorable response to dopaminergic medication parkinsonism with favourable response to dopaminergic medication partial - complete absence of 5th phalanges partial - complete absence of 5th phalanx partial - total agenesis of corpus callosum partial dislocation of small joint of hand partial dislocation of small joints of hand partial duplication of outermost little finger bone partial duplication of outermost pinkie finger bone partial duplication of outermost pinky finger bone partial duplication of the little finger bone partial duplication of the phalanx of hand partial duplication of the pinkie finger bone partial duplication of the pinky finger bone partial or complete agenesis of corpus callosum partial to complete agenesis of corpus callosum patchy atrophy of the retinal pigment epithelium patchy hypo - and hyper - pigmentation patchy increase and decrease bone mineral density patchy increased and decreased bone mineral density patchy loss of skin color on arm patchy loss of skin color on arms patchy loss of skin colour on arm patchy loss of skin colour on arms patchy sclerosis of distal phalanx of finger patchy sclerosis of middle phalanx of finger patchy sclerosis of proximal phalanx of finger patent ductus arteriosus after birth at term percussion - induced rapid roll muscle contraction percussion - induced rapid rolling muscle contractions peripheral line ( pulmonary ct finding ) peripheral lines ( pulmonary ct finding ) perivascular pre - capillary pulmonary artery inflammation permanent flexion of the finger or toe persistent blue color of hand or foot persistent blue color of hands or feet persistent blue colour of hand or foot persistent blue colour of hands or feet photoreceptor outer segment loss on macular oct photosensitive myoclonic - tonic - clonic seizure pigmentation anomalies of sun - exposed skin pigmentation anomaly of sun - expose skin pit at the corner of the lip pit in posterior aspect of ear helix pits at the corners of the lips pits in posterior aspect of ear helices plantar crease between first and second toe plantar crease between first and second toes plaque build - up in aorta artery plaque build - up in cerebral artery posterior fossa cyst at the fourth ventricle premature fusion of the radial epiphyseal plate premature fusion of the radial epiphyseal plates premature plaque build - up in arteries premature plaque build - up in artery primary small cell carcinoma of the skin progressive brachydactyly of middle and distal phalanges progressive brachydactyly of middle and distal phalanx progressive fusion 2nd - 5th pip joint progressive fusion 2nd - 5th pip joints progressive hypertrophy of alveolar process of jaw progressive loss of facial subcutaneous adipose tissue projection of scalp hair onto lateral cheek prominent cupid - bow of upper lip prominent nucleoli of renal tubular epithelial cells prominent nucleolus of renal tubular epithelial cell proximal / middle symphalangism of 2nd toe proximal / middle symphalangism of 3rd finger proximal / middle symphalangism of 3rd toe proximal / middle symphalangism of 4th finger proximal / middle symphalangism of 4th toe proximal / middle symphalangism of 5th finger proximal / middle symphalangism of 5th toe pseudoepiphyses of the phalanges of the hand pseudoepiphyses of the phalanx of the hand recurrent , involuntary and intrusive distressing memories recurrent , involuntary and intrusive distressing memory recurrent infection in infancy and early childhood recurrent infections in infancy and early childhood recurrent upper and low respiratory tract infection recurrent upper and lower respiratory tract infections recurrent upper respiratory and low respiratory infection recurrent upper respiratory and lower respiratory infections red and sore corner of the mouth red and sore corners of the mouth red or purple spot on the skin red or purple spots on the skin reduce / lack of hair on scalp reduce alpha - 2 - antiplasmin activity reduce antigen - specific t cell proliferation reduce contraction of the left ventricular apex reduce erg amplitude of b - wave reduce forced expiratory volume in one second reduce growth - hormone bind protein level reduce insulin - like factor 3 level reduce level of n - acetylglucosaminyltransferase ii reduce muscle fiber lamin a / c reduce muscle fibre lamin a / c reduce proportion of cd4 - positive cell reduce proportion of cd4+ central memory cell reduce proportion of cd4+cd25+ regulatory t cell reduce proportion of naive cd4 t cell reduce proportion of naive cd8 t cell reduce proportion of unswitched memory b cell reduce reactive oxygen specie production in neutrophil reduce serum alpha - 1 - antitrypsin reduce sex - hormone bind protein level reduce size of pulp chamber of tooth reduced / lack of hair on scalp reduced alpha - 2 - antiplasmin activity reduced antigen - specific t cell proliferation reduced contraction of the left ventricular apex reduced erg amplitude of b - wave reduced forced expiratory volume in one second reduced growth - hormone binding protein level reduced insulin - like factor 3 level reduced level of n - acetylglucosaminyltransferase ii reduced muscle fiber lamin a / c reduced muscle fibre lamin a / c reduced proportion of cd4 - positive cells reduced proportion of cd4+ central memory cells reduced proportion of cd4+cd25+ regulatory t cells reduced proportion of naive cd4 t cells reduced proportion of naive cd8 t cells reduced proportion of unswitched memory b cells reduced reactive oxygen species production in neutrophils reduced serum alpha - 1 - antitrypsin reduced sex - hormone binding protein level reduced size of pulp chamber of tooth reduction in the number of scalp follicle reduction in the number of scalp follicles renal arteriole intima / media coagulative necrosis renal arteriole intima / media crystal accumulation renal arteriole intima / media liquefactive necrosis renal arteriole intima / media onion skinning renal arteriole intima / medium coagulative necrosis renal arteriole intima / medium crystal accumulation renal arteriole intima / medium liquefactive necrosis renal arteriole intima / medium onion skin renal arteriole intimal / medial onion skin renal arteriole intimal / medial onion skinning renal tubular atrophy , endocrine - type respiratory insufficiency due to defective ciliary clearance response to drug act on neuromuscular transmission response to drugs acting on neuromuscular transmission restrictive behavior , interest , and activity restrictive behavior , interests , and activities retinal pigment epithelial loss on macular oct reverse splitting of the second heart sound reversed splitting of the second heart sound rhizo - meso - acromelic limb shorten rhizo - meso - acromelic limb shortening rhomboid or triangular shape little finger bone rhomboid or triangular shape pinkie finger bone rhomboid or triangular shape pinky finger bone rhomboid or triangular shaped little finger bone rhomboid or triangular shaped pinkie finger bone rhomboid or triangular shaped pinky finger bone right and leave cleft lip and palate right and left cleft lip and palate right aortic arch with mirror image branching ring finger and little finger metacarpal synostosis round end part of upper limb bone round end part of upper limb bones s - shape open between the eyelid s - shaped opening between the eyelids sandal gap between first and second toe sandal gap between first and second toes sclerosis of hand bone with transverse striation sclerosis of hand bones with transverse striations sclerosis of metaphyses of the upper limb sclerosis of metaphyses of the upper limbs sclerosis of the phalanges of the hallux sclerosis of the phalanges of the hand sclerosis of the phalanges of the thumb sclerosis of the phalanges of the toes sclerosis of the phalanx of the hallux sclerosis of the phalanx of the hand sclerosis of the phalanx of the thumb sclerosis of the phalanx of the toe sclerotic foci of metaphyses of the elbow sclerotic focus of metaphyses of the elbow secondarily generalise tonic - clonic status epilepticus secondarily generalised tonic - clonic status epilepticus secondarily generalize tonic - clonic status epilepticus secondarily generalized tonic - clonic status epilepticus seizure , febrile , in early childhood seizure , generalize , associate with fever seizure , tonic - clonic , photosensitive seizures , febrile , in early childhood seizures , generalized , associated with fever seizures , tonic - clonic , photosensitive sensorimotor polyneuropathy affect arm more than leg sensorimotor polyneuropathy affecting arms more than legs septal line ( pulmonary ct finding ) septal lines ( pulmonary ct finding ) septal thickening ( pulmonary ct finding ) severe delay in maturation of wrist bone severe delay of eruption of adult teeth severe delay of eruption of permanent teeth severe sars - cov - 2 infection short - limb dwarfism identifiable at birth short - limb dwarfism identifiable during childhood short - limbed dwarfism identifiable at birth short - trunk dwarfism identifiable at birth short - trunk dwarfism identifiable during childhood short chordae tendineae of the mitral valve short chordae tendineae of the tricuspid valve short distal phalanx of the 2nd finger short distal phalanx of the 2nd toe short distal phalanx of the 3rd finger short distal phalanx of the 3rd toe short distal phalanx of the 4th finger short distal phalanx of the 4th toe short distal phalanx of the 5th finger short distal phalanx of the 5th toe short distal phalanx of the fifth finger short distal phalanx of the fifth toe short distal phalanx of the fourth finger short distal phalanx of the fourth toe short distal phalanx of the second finger short distal phalanx of the second toe short distal phalanx of the third finger short distal phalanx of the third toe short innermost bone of the ring finger short line ( pumonary ct finding ) short lines ( pumonary ct finding ) short middle bone of the little finger short middle bone of the pinkie finger short middle bone of the pinky finger short middle phalanx of the 2nd finger short middle phalanx of the 2nd toe short middle phalanx of the 3rd finger short middle phalanx of the 3rd toe short middle phalanx of the 4th finger short middle phalanx of the 4th toe short middle phalanx of the 5th finger short middle phalanx of the 5th toe short middle phalanx of the fifth toe short middle phalanx of the fourth toe short middle phalanx of the little finger short middle phalanx of the second toe short middle phalanx of the third toe short outermost bone of the 2nd toe short outermost bone of the 3rd toe short outermost bone of the 4th toe short outermost bone of the index finger short outermost bone of the little toe short outermost bone of the middle finger short outermost bone of the pinkie toe short outermost bone of the pinky toe short proximal phalanx of the 2nd finger short proximal phalanx of the 2nd toe short proximal phalanx of the 3rd finger short proximal phalanx of the 3rd toe short proximal phalanx of the 4th finger short proximal phalanx of the 4th toe short proximal phalanx of the 5th finger short proximal phalanx of the 5th toe short proximal phalanx of the fifth finger short proximal phalanx of the fifth toe short proximal phalanx of the fourth finger short proximal phalanx of the fourth toe short proximal phalanx of the second finger short proximal phalanx of the second toe short proximal phalanx of the third finger short proximal phalanx of the third toe short stature , disproportionate short - limb shorten o - fucosylated glycan on properdin shorten short tubular bone of the hand shortened o - fucosylated glycan on properdin shortened short tubular bones of the hand shortening of all phalanges of the toes shortening of all phalanx of the toe shrinking of one side of the face skin cancer ( non - melanoma ) skin fragility with non - scarring blistering skin groove in front of the ear skin sulcus in front of the ear skin tag in front of the ear slanting of the opening between the eyelid slanting of the opening between the eyelids small , enlarge blood vessel near skin small , enlarged blood vessels near skin small and flat posterior fossa of skull small distal segment of the shoulder blade small distal segments of the shoulder blade small end part of little finger bone small end part of middle finger bone small end part of pinkie finger bone small end part of pinky finger bone small end part of ring finger bone small end part of the index finger small end part of the toe bone small end part of the toe bones small end part of thumb long bone small end part of thumb outermost bone small end part of upper limb bone small end part of upper limb bones small innermost upper end of calf bone soft - tissue ossification around the shoulder soft - tissue ossification around the shoulders solitary congenital hypertrophy of retinal pigment epithelium sore in the lining of gastrointestinal tract space between great toe and second toe sparse scalp hair at front of head spasm on one side of the face spasms on one side of the face speckled calcification in end part of bone speckled calcifications in end part of bone spider vein of mucous membrane of nose spider veins of mucous membrane of nose spur wide portion of upper limb bone spurred wide portion of upper limb bone stippling of the epiphyses of the fingers stippling of the epiphyses of the hallux stippling of the epiphyses of the metacarpals stippling of the epiphyses of the thumb stippling of the epiphyses of the toes stippling of the epiphysis of the finger stippling of the epiphysis of the hallux stippling of the epiphysis of the metacarpal stippling of the epiphysis of the thumb stippling of the epiphysis of the toe stress / infection - induced lactic acidosis subendothelial glomerular basement membrane electron dense deposit subendothelial glomerular basement membrane electron dense deposits subepithelial glomerular basement membrane electron dense deposit subepithelial glomerular basement membrane electron dense deposits submucous cleft of soft and hard palate sunken or indent skin due to damage sunken or indented skin due to damage supraventricular tachycardia with a concealed accessory connection supraventricular tachycardia with a concealed accessory connexion supraventricular tachycardia with a manifest accessory pathway swedish key configuration of the proximal femur swell or irritation of membrane around heart swelling or irritation of membrane around heart swollen lymph node in center of chest swollen lymph node in centre of chest swollen lymph nodes in center of chest swollen lymph nodes in centre of chest symmetric syndactyly , toe 4 and 5 symmetric syndactyly , toes 4 and 5 symphalangism affect the phalanx of the hallux symphalangism affect the phalanx of the hand symphalangism affect the phalanx of the toe symphalangism affecting the phalanges of the hallux symphalangism affecting the phalanges of the hand symphalangism affecting the phalanges of the toes symphalangism of middle phalanx of 2nd finger symphalangism of middle phalanx of 3rd finger symphalangism of middle phalanx of 4th finger symphalangism of middle phalanx of 5th finger synostosis involve bone of the low limb synostosis involve bone of the upper limb synostosis involving bones of the lower limbs synostosis involving bones of the upper limbs systolic anterior motion of the mitral valve t cell chronic lymphocytic lymphoma / leukemia taper point end of distal finger phalanx tapering pointed ends of distal finger phalanges telangiectasia of the roof of the mouth tetralogy of fallot with absent pulmonary valve tetralogy of fallot with absent subarterial conus tetralogy of fallot with atrioventricular canal defect thick inner surface of the frontal bone thick inner surface of the skull bone thick inner surface of the skull bones thick internal surface of the cranial bone thick internal surface of the cranial bones thick internal surface of the frontal bone thick red part of the low lip thick red part of the lower lip thick red part of the upper lip thicken facial skin with coarse facial feature thickened facial skin with coarse facial features thimble - shape middle bone of hand thimble - shape middle phalanx of hand thimble - shaped middle bones of hand thimble - shaped middle phalanges of hand thin red part of the low lip thin red part of the lower lip thin red part of the upper lip thin scalp hair at front of head thinning and bulging of posterior fossa bone thinning and bulging of posterior fossa bones thinning and bulging of posterior skull bone thinning and bulging of posterior skull bones too much cerebrospinal fluid in the brain topoisomerase ( dna ) i antibody positivity total anomalous pulmonary venous connection , intracardiac total anomalous pulmonary venous connection , mixed total anomalous pulmonary venous connection , supracardiac transient swelling of muscle induce by percussion transient swelling of muscle induced by percussion triangular end part of middle finger bone triangular end part of ring finger bone triangular end part of the index finger triangular end part of the little finger triangular end part of the pinkie finger triangular end part of the pinky finger triangular end part of the thumb bone triangular end part of the toe bone triangular end part of the toe bones triangular end part of thumb outermost bone triangular epiphysis of proximal index finger phalanx triangular shape 1st long bone of foot triangular shape 1st long bone of hand triangular shape bone of the middle finger triangular shape distal phalanx of the hallux triangular shape distal phalanx of the hand triangular shape distal phalanx of the thumb triangular shape distal phalanx of the toe triangular shape innermost bone of big toe triangular shape innermost bone of index finger triangular shape innermost bone of middle finger triangular shape middle bone of 2nd toe triangular shape middle bone of index finger triangular shape middle phalanx of the hand triangular shape middle phalanx of the toe triangular shape outermost bone of the hand triangular shape outermost bone of the thumb triangular shape outermost bone of the toe triangular shape phalanx of the 2nd finger triangular shape phalanx of the 2nd toe triangular shape phalanx of the 3rd finger triangular shape phalanx of the 3rd toe triangular shape phalanx of the 4th finger triangular shape phalanx of the 4th toe triangular shape phalanx of the 5th finger triangular shape phalanx of the 5th toe triangular shape proximal phalanx of the hallux triangular shape proximal phalanx of the hand triangular shape proximal phalanx of the thumb triangular shape proximal phalanx of the toe triangular shaped 1st long bone of foot triangular shaped 1st long bone of hand triangular shaped bone of the middle finger triangular shaped distal phalanges of the hand triangular shaped distal phalanges of the toes triangular shaped distal phalanx of the hallux triangular shaped distal phalanx of the thumb triangular shaped innermost bone of big toe triangular shaped innermost bone of index finger triangular shaped innermost bone of middle finger triangular shaped middle bone of 2nd toe triangular shaped middle bone of index finger triangular shaped middle phalanges of the hand triangular shaped middle phalanges of the toes triangular shaped outermost bone of the hand triangular shaped outermost bone of the thumb triangular shaped outermost bone of the toes triangular shaped phalanges of the 2nd finger triangular shaped phalanges of the 2nd toe triangular shaped phalanges of the 3rd finger triangular shaped phalanges of the 3rd toe triangular shaped phalanges of the 4th finger triangular shaped phalanges of the 4th toe triangular shaped phalanges of the 5th finger triangular shaped phalanges of the 5th toe triangular shaped proximal phalanges of the hand triangular shaped proximal phalanges of the toes triangular shaped proximal phalanx of the hallux triangular shaped proximal phalanx of the thumb twist vestigial remnant of the muellerian duct twisted vestigial remnant of the muellerian duct two carpal ossification center present at birth two carpal ossification centers present at birth two carpal ossification centre present at birth two carpal ossification centres present at birth type 1 total anomalous pulmonary venous connection type 2 total anomalous pulmonary venous connection type 3 total anomalous pulmonary venous connection type 4 total anomalous pulmonary venous connection underdeveloped 2nd - 5th middle toe bone underdeveloped 2nd - 5th middle toe bones underdeveloped innermost upper end of calf bone underdevelopment of the innermost thighbone end part unequal size of open between the eyelid unequal size of opening between the eyelids uni - and bilateral multifocal epileptiform discharge uni - and bilateral multifocal epileptiform discharges unstable walking , bad in the dark unstable walking , worse in the dark venosclerosis within interlobular vein intima / media venosclerosis within interlobular vein intima / medium venous varicosities of celiac and mesenteric vessels venous varicosities of coeliac and mesenteric vessels venous varicosity of celiac and mesenteric vessel venous varicosity of coeliac and mesenteric vessel venulitis within arcuate vein intima / media venulitis within arcuate vein intima / medium venulitis within interlobular vein intima / media venulitis within interlobular vein intima / medium very severe constriction of peripheral visual field visually enhance vestibulo - ocular reflex impairment visually enhanced vestibulo - ocular reflex impairment vitamin b12 deficiency cause by intestinal malabsorption vitamin b12 deficiency caused by intestinal malabsorption wake up several time during the night waking up several times during the night weakness due to upper motor neuron dysfunction weakness of both side of the face weakness of both sides of the face weakness of one side of the face webbed 2nd , 3rd and 4th toe webbed 2nd , 3rd and 4th toes webbed index , middle and little finger webbed index , middle and pinkie finger webbed index , middle and pinky finger webbed second , third and fourth toe webbed second , third and fourth toes webbed skin of 2nd - 3rd toe webbed skin of 2nd - 3rd toes webbed third , fourth and fifth toe webbed third , fourth and fifth toes white streak / speck on enamel . white streaks / specks on enamel . wide / broad proximal index finger phalanx wide end part of upper limb bone wide end part of upper limb bones wide epiphyseal plate of the upper limb wide epiphyseal plates of the upper limbs wide innermost finger bone of the hand wide innermost finger bones of the hand wide innermost wide portion of shankbone bone wide innermost wide portion of shinbone bone wide long bone of arm growth plate wide middle phalanx of the 5th finger wide outermost bone of the 2nd toe wide outermost bone of the 3rd toe wide outermost bone of the 4th toe wide outermost bone of the index finger wide outermost bone of the little toe wide outermost bone of the pinkie toe wide outermost bone of the pinky toe wide proximal phalanx of the 5th finger wide space between 1st , 2nd toe wide space between 1st , 2nd toes wide space between 4th and 5th toe wide space between first and second toe wide space between first and second toes williams - fitzgerald - flaujeac factor deficiency wind - swept deformity of the knee wind - swept deformity of the knees y - shape long bone of foot y - shape long bone of hand y - shaped long bone of foot y - shaped long bone of hand yellow - brown discoloration of the teeth yellow / white lesion of the macula yellow / white lesion of the retina yellow / white lesions of the macula yellow / white lesions of the retina yellow bump of fatty deposit on skin yellow bumps of fatty deposits on skin yellowing of the white of the eye yellowing of the whites of the eyes 'de toni - fanconi - debre ' syndrome 'molar tooth sign ' on brain imaging ' a severe pyogenic infection of the epidural space abnormal a - type atrial natriuretic peptide level abnormal alpha - aminobutyrate level in cerebrospinal fluid abnormal alpha - aminobutyrate levels in cerebrospinal fluid abnormal amplitude of light - adapt flicker electroretinogram abnormal amplitude of light - adapted flicker electroretinogram abnormal amplitude of pattern onset / offset vep abnormal amplitude of pattern reversal visual evoke potential abnormal amplitude of pattern reversal visual evoked potentials abnormal aromatic amino acid level in cerebrospinal fluid abnormal aromatic amino acid levels in cerebrospinal fluid abnormal biochemical composition of broncho - alveolar fluid abnormal brain choline / creatine ratio by mr abnormal brain choline / creatine ratio by mrs abnormal brain choline level by magnetic resonance spectroscopy abnormal brain creatine level by magnetic resonance spectroscopy abnormal cell differential of broncho - alveolar fluid abnormal circulate non - proteinogenic amino acid concentration abnormal circulating non - proteinogenic amino acid concentration abnormal cortical radial artery intima / media morphology abnormal cortical radial artery intima / medium morphology abnormal csf a [ beta ] 42 level abnormal fucosylation of o - link protein glycosylation abnormal fucosylation of o - linked protein glycosylation abnormal fucosylation of protein n - link glycosylation abnormal fucosylation of protein n - linked glycosylation abnormal glucose - 6 - phosphate dehydrogenase level abnormal hardy - rand - rittler plate test abnormal head of long bone in upper arm abnormal high - mannose n - glycan level abnormal humphrey sita 10 - 2 perimetry test abnormal humphrey sita 24 - 2 perimetry test abnormal humphrey sita 30 - 2 perimetry test abnormal light - and dark - adapt electroretinogram abnormal light - and dark - adapted electroretinogram abnormal mannosylation of n - link protein glycosylation abnormal mannosylation of n - linked protein glycosylation abnormal maturation of long bone in upper arm abnormal maturation of thigh bone head and neck abnormal middle finger bone of the middle finger abnormal morphology of bone of the low limb abnormal morphology of bone of the upper limb abnormal morphology of bones of the lower limbs abnormal morphology of bones of the upper limbs abnormal morphology of phalanx of the 2nd toe abnormal morphology of the cortex of the humerus abnormal morphology of the musculature of the neck abnormal motility of the globe of the eye abnormal motor evoke potential in the low limb abnormal motor evoke potential in the upper limb abnormal motor evoked potentials in the lower limb abnormal motor evoked potentials in the upper limb abnormal movement of the globe of the eye abnormal ossification involve the bone of the pelvis abnormal ossification involve the femoral head and neck abnormal ossification involving the bones of the pelvis abnormal ossification involving the femoral head and neck abnormal p50 / n95 ratio of pattern electroretinogram abnormal pigmentation of the oral mucosa / gingiva abnormal pigmentation of the oral mucosa / gingivae abnormal platelet dense granule atp / adp ratio abnormal prominence of the crus of the ear abnormal proportion of cd19+ / cd21low b cell abnormal proportion of cd19+ / cd21low b cells abnormal proportion of cd4 - positive t cell abnormal proportion of cd4 - positive t cells abnormal proportion of cd8 - positive t cell abnormal proportion of cd8 - positive t cells abnormal proportion of circulate t - helper cell abnormal proportion of circulating t - helper cells abnormal proportion of gamma - delta t cell abnormal proportion of gamma - delta t cells abnormal proprotion of gamma - delta t lymphocyte abnormal proprotion of gamma - delta t lymphocytes abnormal response to adrenocorticotropic - hormone stimulation test abnormal response to corticotropin release hormone stimulation test abnormal response to corticotropin releasing hormone stimulation test abnormal response to human chorionic gonadotrophin stimulation test abnormal rest energy expenditure from metabolic cart test abnormal resting energy expenditure from metabolic cart test abnormal shape of bone of the low limb abnormal shape of bone of the upper limb abnormal shape of bones of the lower limbs abnormal shape of bones of the upper limbs abnormal shape of end part of limb bone abnormal shape of end part of limb bones abnormal shape of the back of the head abnormal shape of the back of the skull abnormal shape of the opening between the eyelid abnormal shape of the opening between the eyelids abnormal sialylation of n - link protein glycosylation abnormal sialylation of n - linked protein glycosylation abnormal sialylation of o - link protein glycosylation abnormal sialylation of o - linked protein glycosylation abnormal size of the opening between the eyelid abnormal size of the opening between the eyelids abnormal timing of light - adapt flicker electroretinogram abnormal timing of light - adapted flicker electroretinogram abnormal timing of pattern reversal visual evoke potential abnormal timing of pattern reversal visual evoked potentials abnormal udp - glucose 4 - epimerase level abnormal umbilical cord blood level of carbon dioxide abnormal umbilical cord blood levels of carbon dioxide abnormal urinary non - proteinogenic amino acid level abnormalities of the arcuate arterial intima / media abnormalities of the interlobular arterial intima / media abnormality in area between air sac in lung abnormality in area between air sacs in lung abnormality involve the diaphysis of the upper limb abnormality involve the epiphysis of the low limb abnormality involve the epiphysis of the upper limb abnormality involving the diaphyses of the upper limbs abnormality involving the epiphyses of the lower limbs abnormality involving the epiphyses of the upper limbs abnormality of blood and blood - forming tissue abnormality of blood and blood - forming tissues abnormality of bone mineral density involve tarsal bone abnormality of bone mineral density involving tarsal bones abnormality of end part of little finger bone abnormality of end part of pinkie finger bone abnormality of end part of pinky finger bone abnormality of end part of the elbow bone abnormality of end part of thumb long bone abnormality of lateral rectus extra - ocular muscle abnormality of levator labii superioris alaeque nasi muscle abnormality of terminal phalanx of middle - finger abnormality of the 1st long bone of foot abnormality of the 1st long bone of hand abnormality of the 2nd long bone of foot abnormality of the 2nd long bone of hand abnormality of the 3rd long bone of foot abnormality of the 3rd long bone of hand abnormality of the 4th long bone of foot abnormality of the 4th long bone of hand abnormality of the 5th long bone of foot abnormality of the 5th long bone of hand abnormality of the anterior segment of the eye abnormality of the anterior segment of the eyeball abnormality of the anterior segment of the globe abnormality of the arcuate arterial intima / medium abnormality of the bed nucleus of stria terminalis abnormality of the bone of the 3rd toe abnormality of the bones of the 3rd toe abnormality of the curvature of the vertebral column abnormality of the distal phalanges of the hand abnormality of the distal phalanges of the toes abnormality of the distal phalanx of the hallux abnormality of the distal phalanx of the hand abnormality of the distal phalanx of the thumb abnormality of the distal phalanx of the toe abnormality of the end part of innermost shankbone abnormality of the end part of innermost shinbone abnormality of the end part of outermost shankbone abnormality of the end part of outermost shinbone abnormality of the epiphyseal plate of the ulna abnormality of the epiphyses of the 2nd finger abnormality of the epiphyses of the 2nd toe abnormality of the epiphyses of the 3rd finger abnormality of the epiphyses of the 3rd toe abnormality of the epiphyses of the 4th finger abnormality of the epiphyses of the 4th toe abnormality of the epiphyses of the 5th finger abnormality of the epiphyses of the 5th toe abnormality of the epiphysis of the 1st metacarpal abnormality of the epiphysis of the 1st metatarsal abnormality of the epiphysis of the 2nd finger abnormality of the epiphysis of the 2nd metacarpal abnormality of the epiphysis of the 2nd toe abnormality of the epiphysis of the 3rd finger abnormality of the epiphysis of the 3rd metacarpal abnormality of the epiphysis of the 3rd toe abnormality of the epiphysis of the 4th finger abnormality of the epiphysis of the 4th metacarpal abnormality of the epiphysis of the 4th toe abnormality of the epiphysis of the 5th finger abnormality of the epiphysis of the 5th metacarpal abnormality of the epiphysis of the 5th toe abnormality of the epiphysis of the femoral head abnormality of the femoral neck or head region abnormality of the frontal region of the face abnormality of the innermost bone of 3rd toe abnormality of the interlobular arterial intima / medium abnormality of the intermaxillary segment of the maxilla abnormality of the joint of the low limb abnormality of the joint of the upper limb abnormality of the joint space of the elbow abnormality of the joint spaces of the elbow abnormality of the joints of the lower limbs abnormality of the joints of the upper limbs abnormality of the long bone of the toe abnormality of the long bones of the toes abnormality of the middle bone of 3rd toe abnormality of the middle bone of little finger abnormality of the middle bone of pinkie finger abnormality of the middle bone of pinky finger abnormality of the middle phalanges of the hand abnormality of the middle phalanges of the toes abnormality of the middle phalanx of the hand abnormality of the middle phalanx of the toe abnormality of the mucous membrane layer of stomach abnormality of the musculature of the low limb abnormality of the musculature of the lower limbs abnormality of the musculature of the upper arm abnormality of the musculature of the upper limb abnormality of the musculature of the upper limbs abnormality of the outer white part of eyeball abnormality of the outermost bone of ring finger abnormality of the outermost bone of the thumb abnormality of the outermost bone of the toe abnormality of the outermost bone of the toes abnormality of the phalanges of the 2nd finger abnormality of the phalanges of the 3rd finger abnormality of the phalanges of the 3rd toe abnormality of the phalanges of the 4th toe abnormality of the phalanges of the 5th finger abnormality of the phalanges of the 5th toe abnormality of the phalanges of the ring finger abnormality of the phalanx of the 2nd finger abnormality of the phalanx of the 3rd finger abnormality of the phalanx of the 3rd toe abnormality of the phalanx of the 4th toe abnormality of the phalanx of the 5th finger abnormality of the phalanx of the 5th toe abnormality of the phalanx of the ring finger abnormality of the posterior segment of the eye abnormality of the posterior segment of the eyeball abnormality of the posterior segment of the globe abnormality of the proximal phalanges of the hand abnormality of the proximal phalanges of the toes abnormality of the proximal phalanx of the hallux abnormality of the proximal phalanx of the hand abnormality of the proximal phalanx of the thumb abnormality of the proximal phalanx of the toe abnormality of the region around the eye socket abnormality of the small joint of the hand abnormality of the small joints of the hand abnormally low t cell receptor excision circle level absence of bactericidal oxidative respiratory burst in phagocyte absence of bactericidal oxidative respiratory burst in phagocytes absence of overlap of upper and low teeth absence of overlap of upper and lower teeth absence of skin crease over distal interphalangeal joint absence of skin creases over distal interphalangeal joints absence of the outermost bone of the thumb absent / hypoplastic middle phalanx of 2nd finger absent / hypoplastic middle phalanx of 5th finger absent / small 1st long bone of foot absent / small 1st long bone of hand absent / small 2nd long bone of hand absent / small 3rd long bone of hand absent / small 4th long bone of hand absent / small 5th long bone of foot absent / small 5th long bone of hand absent / small bone of the upper limb absent / small bones of the upper limbs absent / small end part of innermost thighbone absent / small head and neck of thighbone absent / small innermost bone of 3rd toe absent / small innermost bone of middle finger absent / small long bone in upper arm absent / small middle bone of 2nd toe absent / small middle bone of pinky finger absent / small outermost bone of 4th toe absent / small outermost bone of little finger absent / small outermost bone of pinkie finger absent / small outermost bone of pinky finger absent / underdevelop 1st long bone of foot absent / underdevelop 1st long bone of hand absent / underdevelop 2nd long bone of hand absent / underdevelop 3rd long bone of hand absent / underdevelop 4th long bone of hand absent / underdevelop 5th long bone of foot absent / underdevelop 5th long bone of hand absent / underdevelop innermost bone of 3rd toe absent / underdevelop innermost bone of middle finger absent / underdevelop long bone in upper arm absent / underdevelop middle bone of 2nd toe absent / underdevelop middle bone of little finger absent / underdevelop middle bone of little toe absent / underdevelop middle bone of pinkie finger absent / underdevelop middle bone of pinkie toe absent / underdevelop middle bone of pinky finger absent / underdevelop middle bone of pinky toe absent / underdevelop outermost bone of 4th toe absent / underdevelop outermost bone of pinky finger absent / underdeveloped 1st long bone of foot absent / underdeveloped 1st long bone of hand absent / underdeveloped 2nd long bone of hand absent / underdeveloped 3rd long bone of hand absent / underdeveloped 4th long bone of hand absent / underdeveloped 5th long bone of foot absent / underdeveloped 5th long bone of hand absent / underdeveloped bone of the upper limb absent / underdeveloped bones of the upper limbs absent / underdeveloped end part of innermost thighbone absent / underdeveloped head and neck of thighbone absent / underdeveloped innermost bone of 3rd toe absent / underdeveloped innermost bone of middle finger absent / underdeveloped long bone in upper arm absent / underdeveloped middle bone of 2nd toe absent / underdeveloped middle bone of little finger absent / underdeveloped middle bone of little toe absent / underdeveloped middle bone of pinkie finger absent / underdeveloped middle bone of pinkie toe absent / underdeveloped middle bone of pinky finger absent / underdeveloped middle bone of pinky toe absent / underdeveloped outermost bone of 4th toe absent / underdeveloped outermost bone of pinky finger absent central pair complex ( 9+0 pattern ) absent end part of the 2nd toe bone absent end part of the 4th toe bone absent end part of the innermost hand bone absent end part of the innermost hand bones absent end part of the little toe bone absent end part of the middle hand bone absent end part of the middle hand bones absent end part of the outermost hand bone absent end part of the outermost hand bones absent end part of the pinkie toe bone absent end part of the pinky toe bone absent end part of the ring finger bone absent end part of thumb innermost long bone absent end part of thumb outermost long bone absent epiphyses of middle phalanx of index finger absent epiphyses of the phalanges of the hand absent epiphysis of middle phalanx of index finger absent epiphysis of the phalanx of the hand absent line around of left side of heart absent lining around of left side of heart absent peripheral lymph node in presence of infection absent peripheral lymph nodes in presence of infection absent photopic ( cone ) responses on erg accumulate crystal within renal arteriolar intima / medium accumulate storage material within arteriolar intima / medium accumulated crystals within renal arteriolar intima / media accumulated storage material within arteriolar intima / media accumulation of muscle fiber valosin - containing protein accumulation of muscle fibre valosin - containing protein acro - osteolysis of terminal index finger phalanx anaemia correct by uridylic acid and cytidylic acid anaemia corrected by uridylic acid and cytidylic acid anemia correct by uridylic acid and cytidylic acid anemia corrected by uridylic acid and cytidylic acid ankylosis of the metacarpophalangeal joint of the thumb anomalous coronary artery arise from the opposite sinus anomalous coronary artery arising from the opposite sinus anomalous hepatic venous drainage into the left atrium anomalous leave coronary artery from the pulmonary artery anomalous left coronary artery from the pulmonary artery anomaly of the orbital region of the face anterior open bite between upper and low teeth anterior open bite between upper and lower teeth anti - beta 2 glycoprotein i antibody positivity anti - fibroblast growth factor receptor 3 antibody anti - gaba ( a ) r antibody anti - gaba ( b ) r antibody anti - glomerular basement membrane - antibody positivity anti - glutamate kainate receptor subunit 2 antibody anti - hla - a igg1 antibody positivity anti - hla - a igg3 antibody positivity anti - hla - b igg1 antibody positivity anti - hla - b igg3 antibody positivity anti - kelch - like protein 11 antibody anti - liver cytosol antibody - 1 positivity anti - metabotropic glutamate receptor type 5 antibody anti - microtubule - associate protein 1b antibody anti - microtubule - associated protein 1b antibody anti - myelin - associate glycoprotein antibody positivity anti - myelin - associated glycoprotein antibody positivity anti - rhogtpase - activate protein 26 antibody anti - rhogtpase - activating protein 26 antibody aortic valve has two leaflets rather than three aortic valve have two leaflet rather than three aplasia / hypoplasia involve bone of the extremity aplasia / hypoplasia involve bone of the foot aplasia / hypoplasia involve bone of the hand aplasia / hypoplasia involve bone of the skull aplasia / hypoplasia involve bone of the thorax aplasia / hypoplasia involve the central nervous system aplasia / hypoplasia involving bones of the extremities aplasia / hypoplasia involving bones of the feet aplasia / hypoplasia involving bones of the hand aplasia / hypoplasia involving bones of the skull aplasia / hypoplasia involving bones of the thorax aplasia / hypoplasia involving the central nervous system aplasia / hypoplasia of the abdominal wall musculature aplasia / hypoplasia of the capital femoral epiphysis aplasia / hypoplasia of the cerebral white matter aplasia / hypoplasia of the fifth metatarsal bone aplasia / hypoplasia of the primary palate bone aplasia / hypoplastia of the eccrine sweat gland aplasia / hypoplastia of the eccrine sweat glands aplasia of the distal phalanges of the hand aplasia of the distal phalanges of the toes aplasia of the distal phalanx of the hallux aplasia of the distal phalanx of the hand aplasia of the distal phalanx of the thumb aplasia of the distal phalanx of the toe aplasia of the middle phalanges of the toes aplasia of the middle phalanx of the hand aplasia of the middle phalanx of the toe aplasia of the outermost bone of the thumb aplasia of the phalanges of the 2nd toe aplasia of the phalanges of the 3rd toe aplasia of the phalanges of the 4th toe aplasia of the phalanges of the 5th toe aplasia of the phalanx of the 2nd toe aplasia of the phalanx of the 3rd toe aplasia of the phalanx of the 4th toe aplasia of the phalanx of the 5th toe aplasia of the proximal phalanges of the hand aplasia of the proximal phalanges of the toes aplasia of the proximal phalanx of the hallux aplasia of the proximal phalanx of the hand aplasia of the proximal phalanx of the thumb aplasia of the proximal phalanx of the toe arcuate vein intimal / medial storage material accumulation asymmetrical distribution of pattern reversal visual evoke potential asymmetrical distribution of pattern reversal visual evoked potentials asymmetry of right and leave side of face asymmetry of right and left side of face atrophic and degenerative change in the spinal cord atrophic and degenerative changes in the spinal cord atrophy / degeneration affect the central nervous system atrophy / degeneration affecting the central nervous system atypical nevi in non - sun exposed areas atypical nevus in non - sun expose area bear track congenital hypertrophy of retinal pigment epithelium bilateral superior vena cava with no bridging vein bilateral tonic - clonic seizure with focal onset bilateral tonic - clonic seizure with generalised onset bilateral tonic - clonic seizure with generalized onset blood pressure substantially high in arm than leg blood pressure substantially high in legs than arm blood pressure substantially higher in arms than legs blood pressure substantially higher in legs than arms blood pressure substantially low in arm than leg blood pressure substantially lower in arms than legs bowing of out large bone of the forearm bowing of outer large bone of the forearm bracket epiphyses of the phalanges of the hand bracket epiphysis of the phalanx of the hand bracket shape end part of 2nd toe bone bracket shape end part of 3rd toe bone bracket shape end part of 4th toe bone bracket shape end part of big toe bone bracket shape end part of little finger bone bracket shape end part of little toe bone bracket shape end part of middle finger bone bracket shape end part of pinkie finger bone bracket shape end part of pinkie toe bone bracket shape end part of pinky finger bone bracket shape end part of pinky toe bone bracket shape end part of ring finger bone bracket shape end part of the thumb bone bracket shape end part of the toe bone bracket shaped end part of 2nd toe bone bracket shaped end part of 3rd toe bone bracket shaped end part of 4th toe bone bracket shaped end part of big toe bone bracket shaped end part of little finger bone bracket shaped end part of little toe bone bracket shaped end part of middle finger bone bracket shaped end part of pinkie finger bone bracket shaped end part of pinkie toe bone bracket shaped end part of pinky finger bone bracket shaped end part of pinky toe bone bracket shaped end part of ring finger bones bracket shaped end part of the thumb bone bracket shaped end part of the toe bones brain tissue stick out through back of skull brain tissue sticks out through back of skull broad end part of long bone of hand broad shaft of long bone in upper arm bullet - shape 1st long bone of foot bullet - shape 1st long bone of hand bullet - shape innermost bone of 2nd toe bullet - shape innermost bone of index finger bullet - shape innermost bone of little toe bullet - shape innermost bone of pinkie toe bullet - shape innermost bone of pinky toe bullet - shape middle bone of 2nd toe bullet - shape middle bone of index finger bullet - shape middle bone of middle finger bullet - shape middle bone of the toe bullet - shape middle phalanx of the hand bullet - shape middle phalanx of the toe bullet - shape outermost bone of big toe bullet - shape outermost bone of ring finger bullet - shape outermost bone of the thumb bullet - shape outermost bone of the toe bullet - shape proximal phalanx of the hallux bullet - shape proximal phalanx of the hand bullet - shape proximal phalanx of the thumb bullet - shape proximal phalanx of the toe bullet - shaped 1st long bone of foot bullet - shaped 1st long bone of hand bullet - shaped bone of the 2nd toe bullet - shaped bone of the 4th toe bullet - shaped bone of the little toe bullet - shaped bone of the pinkie toe bullet - shaped bone of the pinky toe bullet - shaped bones of the 2nd toe bullet - shaped bones of the 4th toe bullet - shaped bones of the little toe bullet - shaped bones of the pinkie toe bullet - shaped bones of the pinky toe bullet - shaped distal phalanges of the hand bullet - shaped distal phalanges of the toes bullet - shaped distal phalanx of the hallux bullet - shaped distal phalanx of the hand bullet - shaped distal phalanx of the thumb bullet - shaped distal phalanx of the toe bullet - shaped innermost bone of 2nd toe bullet - shaped innermost bone of index finger bullet - shaped innermost bone of little toe bullet - shaped innermost bone of pinkie toe bullet - shaped innermost bone of pinky toe bullet - shaped middle bone of 2nd toe bullet - shaped middle bone of index finger bullet - shaped middle bone of middle finger bullet - shaped middle bones of the toes bullet - shaped middle phalanges of the hand bullet - shaped middle phalanges of the toes bullet - shaped of bone of ring finger bullet - shaped outermost bone of big toe bullet - shaped outermost bone of ring finger bullet - shaped outermost bone of the thumb bullet - shaped outermost bone of the toe bullet - shaped phalanges of the 2nd finger bullet - shaped phalanges of the 2nd toe bullet - shaped phalanges of the 3rd finger bullet - shaped phalanges of the 3rd toe bullet - shaped phalanges of the 4th finger bullet - shaped phalanges of the 4th toe bullet - shaped phalanges of the 5th finger bullet - shaped phalanges of the 5th toe bullet - shaped phalanx of the 2nd finger bullet - shaped phalanx of the 2nd toe bullet - shaped phalanx of the 3rd finger bullet - shaped phalanx of the 3rd toe bullet - shaped phalanx of the 4th finger bullet - shaped phalanx of the 4th toe bullet - shaped phalanx of the 5th finger bullet - shaped phalanx of the 5th toe bullet - shaped proximal phalanges of the hand bullet - shaped proximal phalanges of the toes bullet - shaped proximal phalanx of the hallux bullet - shaped proximal phalanx of the thumb calcification of the interosseus membrane of the forearm cd43 defectively express on surface of blood cell cd43 defectively expressed on surface of blood cells centrilobular ground - glass opacification on pulmonary hrct childhood - onset short - trunk short stature cholesterol emboli within the medullary peritubular capillary lumen cholesterol embolus within the medullary peritubular capillary lumen chronic ( near ) absent ige in blood chronic ( near ) absent igg1 in blood chronic ( near ) absent igg2 in blood chronic ( near ) absent igg3 in blood chronic ( near ) absent igg4 in blood chronic ( near ) absent igm in blood chronic candidiasis of mucosa , skin and nail chronic candidiasis of mucosa , skin and nails chronic nasal inflammation due to narrow nasal airway cleft at the superior portion of the ear cleft at the superior portion of the pinna coagulative necrosis within arcuate vein intima / media coagulative necrosis within arcuate vein intima / medium coagulative necrosis within interlobular arterial intima / media coagulative necrosis within interlobular arterial intima / medium collection of dilated blood vessel that form mass collection of dilated blood vessels that forms mass complete cutaneous syndactyly of second and third toe complete cutaneous syndactyly of second and third toes complete duplication of distal phalanx of the thumb complete duplication of outermost bone of the thumb complete duplication of proximal phalanx of the thumb complete duplication of the innermost 2nd toe bone complete duplication of the innermost 3rd toe bone complete duplication of the innermost 4th toe bone complete duplication of the innermost little finger bone complete duplication of the innermost pinkie finger bone complete duplication of the innermost pinky finger bone complete duplication of the middle little finger bone complete duplication of the middle pinkie finger bone complete duplication of the middle pinky finger bone complete duplication of the outermost little finger bone complete duplication of the outermost pinkie finger bone complete duplication of the outermost pinky finger bone complete duplication of the phalanges of the hallux complete duplication of the phalanges of the thumb complete duplication of the phalanx of the hallux complete duplication of the phalanx of the thumb complete or near - complete absence of isohemagglutinins complete or partial absence of the corpus callosum cone - shaped end part of finger bone cone - shaped end part of finger bones cone - shaped end part of innermost thighbone cone - shaped end part of long bone cone - shaped epiphyses fused within their metaphyses cone - shaped epiphyses of the 2nd finger cone - shaped epiphyses of the 2nd toe cone - shaped epiphyses of the 3rd finger cone - shaped epiphyses of the 3rd toe cone - shaped epiphyses of the 4th finger cone - shaped epiphyses of the 4th toe cone - shaped epiphyses of the 5th finger cone - shaped epiphyses of the 5th toe cone - shaped epiphysis fuse within their metaphyses cone - shaped epiphysis of the 1st metacarpal cone - shaped epiphysis of the 1st metatarsal cone - shaped epiphysis of the 2nd finger cone - shaped epiphysis of the 2nd toe cone - shaped epiphysis of the 3rd finger cone - shaped epiphysis of the 3rd toe cone - shaped epiphysis of the 4th finger cone - shaped epiphysis of the 4th toe cone - shaped epiphysis of the 5th finger cone - shaped epiphysis of the 5th toe confluent hyperintensity of cerebral white matter on mri confluent hypointensity of cerebral white matter on mri conical bullet - shaped distal end of phalanx conical bullet - shaped distal ends of phalanges contracture of the carpometacarpal joint of the thumb contracture of the interphalangeal joint of the hallux contracture of the interphalangeal joint of the thumb contracture of the joint of the low limb contracture of the joint of the upper limb contracture of the metacarpophalangeal joint of the thumb contracture of the metatarsophalangeal joint of the hallux contracture of the tarsometatarsal joint of the hallux contractures of the carpometacarpal joint of the thumb contractures of the interphalangeal joint of the thumb contractures of the joints of the lower limbs contractures of the joints of the upper limbs contractures of the metacarpophalangeal joint of the thumb contractures of the metatarsophalangeal joint of the hallux cornea of eye less than 10mm in diameter cortical radial artery intima / media coagulative necrosis cortical radial artery intima / media liquefactive necrosis cortical radial artery intima / media onion skinning cortical radial artery intima / medium coagulative necrosis cortical radial artery intima / medium liquefactive necrosis cortical radial artery intima / medium onion skin cortical radial artery medial / intimal granulomatous arteriitis cough up blood or blood - stain mucus coughing up blood or blood - stained mucus crossed asymmetry of pattern reversal visual evoke potential crossed asymmetry of pattern reversal visual evoked potentials cup wide portion of the upper limb bone cupped wide portion of the upper limb bone curvilinear intracellular accumulation of autofluorescent lipopigment storage material d - loop transposition of the great arteries d - loop transposition of the great artery death of bone due to decreased blood supply decrease 3 - hydroxyacyl - coa dehydrogenase level decrease circulate a - type natriuretic peptide level decrease circulate beta - 2 - microglobulin level decrease forced expiratory flow 25 - 75 % decrease high - mannose n - glycan level decrease level of 1,5 - ag in serum decrease level of 1,5 - anhydroglucitol in serum decrease level of d - mannose in urine decrease level of heparin co - factor ii decrease lung function due to weak breathing muscle decrease monosialylated core 1 o - glycan level decrease plasma testosterone - to - androstenedione ratio decrease platelet alpha - 2a - adrenergic receptor decrease platelet glycoprotein ib - ix - v decrease post - bronchodilator fef25 - 75 % decrease postbronchodilator forced expiratory volume in one second decrease pre - bronchodilator fef25 - 75 % decrease serum insulin - like growth factor 1 decreased 3 - hydroxyacyl - coa dehydrogenase level decreased circulating a - type natriuretic peptide level decreased circulating beta - 2 - microglobulin level decreased forced expiratory flow 25 - 75 % decreased fucosylation of n - link protein glycosylation decreased fucosylation of n - linked protein glycosylation decreased fucosylation of o - link protein glycosylation decreased fucosylation of o - linked protein glycosylation decreased galactosylation of n - link protein glycosylation decreased galactosylation of n - linked protein glycosylation decreased high - mannose n - glycan level decreased level of 1,5 - ag in serum decreased level of 1,5 - anhydroglucitol in serum decreased level of d - mannose in urine decreased level of heparin co - factor ii decreased lung function due to weak breathing muscles decreased mannosylation of n - link protein glycosylation decreased mannosylation of n - linked protein glycosylation decreased mitochondrial complex iii activity in liver tissue decreased monosialylated core 1 o - glycan level decreased number of large and small myelinated fiber decreased number of large and small myelinated fibers decreased number of large and small myelinated fibre decreased number of large and small myelinated fibres decreased number of large peripheral myelinated nerve fiber decreased number of large peripheral myelinated nerve fibers decreased number of large peripheral myelinated nerve fibre decreased number of large peripheral myelinated nerve fibres decreased number of small peripheral myelinated nerve fiber decreased number of small peripheral myelinated nerve fibers decreased number of small peripheral myelinated nerve fibre decreased number of small peripheral myelinated nerve fibres decreased plasma testosterone - to - androstenedione ratio decreased platelet alpha - 2a - adrenergic receptor decreased platelet glycoprotein ib - ix - v decreased post - bronchodilator fef25 - 75 % decreased postbronchodilator forced expiratory volume in one second decreased pre - bronchodilator fef25 - 75 % decreased proportion of cd19+ / cd21low b cell decreased proportion of cd19+ / cd21low b cells decreased proportion of cd3 - positive t cell decreased proportion of cd3 - positive t cells decreased proportion of cd4 - positive t cell decreased proportion of cd4 - positive t cells decreased proportion of cd4+ effector memory t cell decreased proportion of cd4+ effector memory t cells decreased proportion of cd8 - positive t cell decreased proportion of cd8 - positive t cells decreased proportion of gamma - delta t cell decreased proportion of gamma - delta t cells decreased proportion of gamma - delta t lymphocyte decreased proportion of gamma - delta t lymphocytes decreased range of movement range in hinge joint decreased range of movement range in hinge joints decreased serum insulin - like growth factor 1 decreased sialylation of n - link protein glycosylation decreased sialylation of n - linked protein glycosylation decreased sialylation of o - link protein glycosylation decreased sialylation of o - linked protein glycosylation decreased size of one side of the face deform head of long bone in upper arm deformed head of long bone in upper arm deformity of the orbital region of the face delay maturation / delay ossification of the hand delay maturation / delayed ossification of the hand delay maturation of end part of long bone delayed maturation of end part of long bone delta - shaped epiphyses of the 3rd finger delta - shaped epiphyses of the 4th finger delta - shaped epiphyses of the 5th finger delta - shaped epiphysis of the 3rd finger delta - shaped epiphysis of the 4th finger delta - shaped epiphysis of the 5th finger depletion of component of the alternative complement pathway depletion of components of the alternative complement pathway depletion of mitochondrial dna in skeletal muscle tissue diet - resistant subcutaneous adipose tissue below waist disorder of mandibular and maxillary dental arch relationship disorder of maxillary and mandibular dental arch relationship distal limb muscle weakness due to peripheral neuropathy distal muscle atrophy , upper and low limb distal muscle atrophy , upper and lower limbs distal sensory loss , upper and low limb distal sensory loss , upper and lower limbs dorv with doubly commit vsd and pulmonary stenosis dorv with doubly committed vsd and pulmonary stenosis double inlet to single ventricle of indeterminate morphology downward slanting of the opening between the eyelid downward slanting of the opening between the eyelids dumbbell - shape long bone in upper arm dumbbell - shaped long bone in upper arm duplication of the bone of the 2nd toe duplication of the bone of the little toe duplication of the bone of the pinkie toe duplication of the bone of the pinky toe duplication of the bones of the 2nd toe duplication of the bones of the little toe duplication of the bones of the pinkie toe duplication of the bones of the pinky toe duplication of the distal phalanx of the hallux duplication of the distal phalanx of the thumb duplication of the innermost bone of big toe duplication of the outermost bone of big toe duplication of the outermost bone of the thumb duplication of the phalanges of the 2nd toe duplication of the phalanges of the 5th toe duplication of the phalanges of the fifth toe duplication of the phalanx of the 2nd toe duplication of the phalanx of the 5th toe duplication of the phalanx of the fifth toe duplication of the proximal phalanx of the hallux duplication of the proximal phalanx of the thumb dysplastic distal thumb phalanges with a central hole dysplastic distal thumb phalanx with a central hole eeg with hyperventilation - induce generalised epileptiform discharge eeg with hyperventilation - induced focal epileptiform discharge eeg with hyperventilation - induced focal epileptiform discharges eeg with hyperventilation - induced generalised epileptiform discharges eeg with hyperventilation - induced generalized epileptiform discharge eeg with hyperventilation - induced generalized epileptiform discharges eeg with irregular generalise spike and wave complex eeg with irregular generalised spike and wave complexes eeg with irregular generalize spike and wave complex eeg with irregular generalized spike and wave complexes electrical status epilepticus during slow - wave sleep elevate amniotic fluid alpha - 1 - fetoprotein elevate brain creatine level by magnetic resonance spectroscopy elevate circulate 3 - oh - palmitoleylcarnitine concentration elevate circulate beta - 2 - microglobulin level elevate circulate chitinase 3 - like 1 level elevate circulate n , n - dimethylglycine concentration elevate proportion of cd4 - positive t cell elevate proportion of cd4+ effector memory t cell elevate proportion of gamma - delta t cell elevate urinary n , n - dimethylglycine level elevate urinary non - proteinogenic amino acid level elevated amniotic fluid alpha - 1 - fetoprotein elevated brain creatine level by magnetic resonance spectroscopy elevated circulating 3 - oh - palmitoleylcarnitine concentration elevated circulating beta - 2 - microglobulin level elevated circulating chitinase 3 - like 1 level elevated circulating n , n - dimethylglycine concentration elevated proportion of cd4 - positive t cells elevated proportion of cd4+ effector memory t cells elevated proportion of gamma - delta t cells elevated urinary n , n - dimethylglycine level elevated urinary non - proteinogenic amino acid level emg : continuous motor unit activity at rest endoarterial hypercellularity within arcuate artery consisting of leukocyte endoarterial hypercellularity within arcuate artery consisting of leukocytes endoarterial hypercellularity within arcuate artery consisting of lymphocyte endoarterial hypercellularity within arcuate artery consisting of lymphocytes endoarterial hypercellularity within arcuate artery consisting of neutrophil endoarterial hypercellularity within arcuate artery consisting of neutrophils endoarterial hypercellularity within arteriole consist of foam cell endoarterial hypercellularity within arterioles consisting of foam cells endoarterial hypercellularity within interlobular artery consisting of leukocyte endoarterial hypercellularity within interlobular artery consisting of leukocytes endoarterial hypercellularity within interlobular artery consisting of lymphocyte endoarterial hypercellularity within interlobular artery consisting of lymphocytes enlarged end part of long bone of hand enlarged end part of the 2nd toe bone enlarged end part of the 3rd toe bone enlarged end part of the 4th toe bone enlarged end part of the big toe bone enlarged end part of the innermost hand bone enlarged end part of the innermost hand bones enlarged end part of the little finger bone enlarged end part of the little finger bones enlarged end part of the little toe bone enlarged end part of the middle hand bone enlarged end part of the middle hand bones enlarged end part of the outermost hand bone enlarged end part of the outermost hand bones enlarged end part of the pinkie finger bone enlarged end part of the pinkie finger bones enlarged end part of the pinkie toe bone enlarged end part of the pinky finger bone enlarged end part of the pinky finger bones enlarged end part of the pinky toe bone enlarged end part of the ring finger bone enlarged end part of the ring finger bones enlarged end part of thumb innermost long bone enlarged end part of thumb outermost long bone enlarged epiphyses of the phalanges of the hand enlarged epiphysis of the phalanx of the hand entrapment neuropathy of the ulnar nerve at elbow eosinophilic micro - abscess formation in the esophagus eosinophilic micro - abscess formation in the oesophagus episodic apnea induce by febrile illness or stress episodic apnea induced by febrile illness or stress excessive bone growth of the skull and face extension of the columella below the ala nasi eye of the tiger anomaly of globus pallidus facial palsy cause by enlargement of cranial bone facial palsy cause by overgrowth of cranial bone facial palsy caused by enlargement of cranial bones facial palsy caused by overgrowth of cranial bones facial palsy secondary to hypertrophy of cranial bone facial palsy secondary to hypertrophy of cranial bones failure of development of condylar head of mandible failure of development of condylar neck of mandible failure of development of deciduous mandibular central incisor failure of development of deciduous mandibular lateral incisor failure of development of deciduous maxillary central incisor failure of development of deciduous maxillary lateral incisor failure of development of more than six teeth failure of development of permanent mandibular central incisor failure of development of permanent mandibular lateral incisor failure of development of permanent maxillary central incisor failure of development of permanent maxillary lateral incisor failure of development of permanent upper lateral incisor failure of development of primary mandibular central incisor failure of development of primary mandibular lateral incisor failure of development of primary maxillary central incisor failure of development of primary maxillary lateral incisor failure of development of the primary palate bone failure to thrive in first year of life favorable response of weakness to acetylcholine esterase inhibitor favorable response of weakness to acetylcholine esterase inhibitors favourable response of weakness to acetylcholine esterase inhibitor favourable response of weakness to acetylcholine esterase inhibitors filling of the alveoli with desquamated epithelial cells filling of the alveolus with desquamated epithelial cell finger point in a different direction than usual finger pointing in a different direction than usual fingerprint intracellular accumulation of autofluorescent lipopigment storage material flare outermost wide portion of of calf bone flare wide portion of the upper limb bone flared outermost wide portion of of calf bone flared wide portion of the upper limb bone flattended head of long bone in upper arm focal autonomic seizure with pupillary dilation / constriction focal aware autonomic seizure with pallor / flushing focal aware cognitive seizure with dyscalculia / acalculia focal aware cognitive seizure with dysgraphia / agraphia focal aware cognitive seizure with dyslexia / alexia focal aware motor seizure with dysarthria / anarthria focal aware motor seizure with paresis / paralysis focal cognitive seizure with conduction dysphasia / aphasia focal cognitive seizure with expressive dysphasia / aphasia focal cognitive seizure with left - right confusion focal cognitive seizure with receptive dysphasia / aphasia focal eeg discharge with propagation to ipsilateral hemisphere focal eeg discharges with propagation to ipsilateral hemisphere focal epithelial hyperplasia of the lining of mouth focal hyperintensity of cerebral white matter on mri focal hypointensity of cerebral white matter on mri focal impair awareness cognitive seizure with auditory agnosia focal impair awareness cognitive seizure with forced thinking focal impair awareness cognitive seizure with memory impairment focal impair awareness motor seizure with negative myoclonus focal impair awareness seizure with dissociation at onset focal impair awareness sensory seizure with auditory feature focal impair awareness sensory seizure with cephalic sensation focal impair awareness sensory seizure with gustatory feature focal impair awareness sensory seizure with olfactory feature focal impair awareness sensory seizure with somatosensory feature focal impair awareness sensory seizure with vestibular feature focal impair awareness sensory seizure with visual feature focal impaired awareness cognitive seizure with auditory agnosia focal impaired awareness cognitive seizure with forced thinking focal impaired awareness cognitive seizure with memory impairment focal impaired awareness motor seizure with negative myoclonus focal impaired awareness seizure with dissociation at onset focal impaired awareness sensory seizure with auditory features focal impaired awareness sensory seizure with cephalic sensation focal impaired awareness sensory seizure with gustatory features focal impaired awareness sensory seizure with olfactory features focal impaired awareness sensory seizure with somatosensory features focal impaired awareness sensory seizure with vestibular features focal impaired awareness sensory seizure with visual features focal motor aware seizure with dysarthria / anarthria focal motor aware seizure with paresis / paralysis focal motor impair awareness seizure with negative myoclonus focal motor impaired awareness seizure with negative myoclonus focal non - convulsive status epilepticus without coma focal seizure with impairment of consciousness or awareness focal seizure without impairment of consciousness or awareness focal seizures with impairment of consciousness or awareness focal seizures without impairment of consciousness or awareness focal sensory seizure with hot - cold sensation focal sensory seizure with hot - cold sensations foveal inner retinal layer loss on macular oct foveal photoreceptor outer segment loss on macular oct foveal retinal pigment epithelial loss on macular oct fragmentation of end part of middle finger bone fragmentation of end part of the index finger fragmentation of end part thumb outermost long bone fragmentation of the epiphyses of the 2nd finger fragmentation of the epiphyses of the 2nd toe fragmentation of the epiphyses of the 3rd finger fragmentation of the epiphyses of the 3rd toe fragmentation of the epiphyses of the 4th finger fragmentation of the epiphyses of the 4th toe fragmentation of the epiphyses of the 5th finger fragmentation of the epiphyses of the 5th toe fragmentation of the epiphysis of the 1st metacarpal fragmentation of the epiphysis of the 1st metatarsal fragmentation of the epiphysis of the 2nd finger fragmentation of the epiphysis of the 2nd toe fragmentation of the epiphysis of the 3rd finger fragmentation of the epiphysis of the 3rd toe fragmentation of the epiphysis of the 4th finger fragmentation of the epiphysis of the 4th toe fragmentation of the epiphysis of the 5th finger fragmentation of the epiphysis of the 5th toe furrow in thickened skin on top of scalp furrows in thickened skin on top of scalp fuse 4th - 5th long bone of hand fuse innermost and middle bone of 3rd toe fuse innermost and middle bone of 4th toe fuse innermost and middle bone of fourth finger fuse innermost and middle bone of little finger fuse innermost and middle bone of pinkie finger fuse innermost and middle bone of pinky finger fuse middle and innermost bone of 2nd toe fuse outermost and middle bone of middle finger fuse outermost and middle bone of ring finger fuse wrist bone and long bone of hand fused 4th - 5th long bones of hand fused end and middle bone of little finger fused end and middle bone of pinkie finger fused end and middle bone of pinky finger fused end and middle bones of little finger fused end and middle bones of pinkie finger fused end and middle bones of pinky finger fused innermost and middle bone of fourth finger fused innermost and middle bones of 3rd toe fused innermost and middle bones of 4th toe fused innermost and middle bones of little finger fused innermost and middle bones of pinkie finger fused innermost and middle bones of pinky finger fused middle and innermost bones of 2nd toe fused outermost and middle bones of middle finger fused outermost and middle bones of ring finger fused wrist bones and long bones of hand fusion involve the 1st long bone of foot fusion involve the 2nd long bone of hand fusion involve the 3rd long bone of hand fusion involve the 4th long bone of hand fusion involve the 5th long bone of hand fusion involve the bone of the low limb fusion involving the 1st long bone of foot fusion involving the 2nd long bone of hand fusion involving the 3rd long bone of hand fusion involving the 4th long bone of hand fusion involving the 5th long bone of hand fusion involving the bones of the lower limbs fusion of the long bone of the foot fusion of the long bones of the feet gap between large left and right abdominal muscle gap between large left and right abdominal muscles generalise non - convulsive status epilepticus without coma generalise non - motor ( absence ) seizure generalise onset myoclonic - tonic - clonic seizure generalise tonic - clonic seizure with focal onset generalise tonic - clonic seizure without focal onset generalise tonic - clonic seizure without partial onset generalised non - convulsive status epilepticus without coma generalised non - motor ( absence ) seizure generalised onset myoclonic - tonic - clonic seizure generalised tonic - clonic seizure without focal onset generalised tonic - clonic seizure without partial onset generalised tonic - clonic seizures with focal onset generalised tonic - clonic seizures without focal onset generalize non - convulsive status epilepticus without coma generalize non - motor ( absence ) seizure generalize onset myoclonic - tonic - clonic seizure generalize tonic - clonic seizure with focal onset generalize tonic - clonic seizure without focal onset generalize tonic - clonic seizure without partial onset generalized non - convulsive status epilepticus without coma generalized non - motor ( absence ) seizure generalized onset myoclonic - tonic - clonic seizure generalized tonic - clonic seizure without focal onset generalized tonic - clonic seizure without partial onset generalized tonic - clonic seizures with focal onset generalized tonic - clonic seizures without focal onset globus pallidus hypointensity on susceptibility - weight imaging globus pallidus hypointensity on susceptibility - weighted imaging granular osmiophilic deposit ( grod ) in cell granular osmiophilic deposits ( grod ) in cells granulomatous arteriolitis of the arteriolar intima / media granulomatous arteriolitis of the arteriolar intima / medium granulomatous arteritis within arcuate arterial intima / media granulomatous arteritis within arcuate arterial intima / medium granulomatous venulitis within interlobular vein intima / media granulomatous venulitis within interlobular vein intima / medium hair displacement , preauricular , towards lateral cheekbone harder , denser , fracture - prone bone harder , denser , fracture - prone bones hearing loss , sensorineural , bilateral , progressive hepatitis , chronic , due to cryptosporidium infection high alpha - aminobutyrate level in cerebrospinal fluid high alpha - aminobutyrate levels in cerebrospinal fluid high myo - inositol in brain by mr high myo - inositol in brain by mrs high than normal level of lactate in blood higher than normal levels of lactate in blood hyperintense lesion in the basal ganglion on mri hyperintense lesions in the basal ganglia on mri hyperkeratosis , palmoplantar , focal friction - related hypoplasia / agenesis of distal phalanges of toes hypoplasia / agenesis of distal phalanx of toe hypoplasia of the distal phalanges of the hand hypoplasia of the distal phalanx of the hand hypoplasia of the middle phalanges of the hand hypoplasia of the middle phalanx of the hand hypoplasia of the proximal phalanges of the hand hypoplasia of the proximal phalanx of the hand hypoplasia of the vestibule of the inner ear hypoplasia or unilateral / bilateral absence of ulna hypoplastic / aplastic middle phalanx of index finger hypoplastic / small distal phalanx of the hallux hypoplastic / small distal phalanx of the thumb hypoplastic / small middle phalanx of ring finger hypoplastic / small phalanges of the 2nd toe hypoplastic / small phalanges of the 3rd toe hypoplastic / small phalanges of the 4th toe hypoplastic / small phalanges of the 5th toe hypoplastic / small phalanx of the 2nd toe hypoplastic / small phalanx of the 3rd toe hypoplastic / small phalanx of the 4th toe hypoplastic / small phalanx of the 5th toe hypoplastic / small proximal phalanx of the thumb ige - mediate plant base food allergen allergy ige - mediated plant based food allergen allergy immunoglobulin e - mediate alpha - gal allergy immunoglobulin e - mediate house dust mite allergy immunoglobulin e - mediate nut food product allergy immunoglobulin e - mediated alpha - gal allergy immunoglobulin e - mediated house dust mite allergy immunoglobulin e - mediated nut food product allergy impaired phorbol myristate acetate - induced platelet aggregation impaired thromboxane a2 agonist - induced platelet aggregation inability to close the eyelid due to scar inability to close the eyelids due to scarring inability to make and keep healthy fat tissue incorrect relation between upper and low dental arch incorrect relation between upper and lower dental arches increase anti - animal dander ige antibody level increase anti - animal protein ige antibody level increase anti - dairy protein ige antibody level increase anti - dust mite ige antibody level increase anti - food allergen ige antibody level increase anti - house dust ige antibody level increase anti - meat allergen ige antibody level increase anti - plant product ige antibody level increase aspartate family amino acid level in urine increase blood pressure in blood vessel of lung increase bone density in end part of bone increase bone density in innermost little finger bone increase bone density in innermost pinkie finger bone increase bone density in innermost pinky finger bone increase bone density in shaft of long bone increase circulate a - type natriuretic peptide level increase circulate beta - 2 - microglobulin level increase circulate n - acetyl aspartic acid level increase concentration of multiantennary sialylated oligosaccharide in urine increase concentration of multiantennary sialylated oligosaccharides in urine increase deep tendon reflex in the low limb increase disialylated core 1 o - glycan level increase fucosylation of n - link protein glycosylation increase fucosylation of o - link protein glycosylation increase glutamine family amino acid level in urine increase high - mannose n - glycan level increase level of anti - bacteria ige antibody increase level of anti - dander ige antibody increase level of anti - drug ige antibody increase level of anti - gluten ige antibody increase level of anti - seafood ige antibody increase level of antigen - precipitating igg antibody increase level of d - threitol in csf increase level of d - threitol in plasma increase level of d - threitol in urine increase level of galactitol in red blood cell increase level of galactonate in red blood cell increase level of l - fucose in urine increase level of n - benzoylglycine in blood increase level of n - benzoylglycine in urine increase level of o - phosphoethanolamine in urine increase mannosylation of n - link protein glycosylation increase monosialylated core 1 o - glycan level increase n - acetyl aspartate level in csf increase proportion of cd19+ / cd21low b cell increase proportion of cd4 - positive t cell increase proportion of cd4+ effector memory t cell increase proportion of gamma - delta t cell increase proportion of gamma - delta t lymphocyte increase ratio of vwf propeptide to vwf antigen increase serum insulin - like growth factor 1 increase sialylation of n - link protein glycosylation increase truncate complex n - glycans on glycoprotein increase urinary 8 - oxo - gsn level increase urinary alpha - 1 - acid glycoprotein increase urinary high - mannose - type oligosaccharide increase urinary non - proteinogenic amino acid level increased anti - animal dander ige antibody level increased anti - animal protein ige antibody level increased anti - dairy protein ige antibody level increased anti - dust mite ige antibody level increased anti - food allergen ige antibody level increased anti - house dust ige antibody level increased anti - meat allergen ige antibody level increased anti - plant product ige antibody level increased aspartate family amino acid level in urine increased blood pressure in blood vessels of lungs increased bone density in end part of bone increased bone density in innermost little finger bone increased bone density in innermost pinkie finger bone increased bone density in innermost pinky finger bone increased bone density in shaft of long bone increased circulating a - type natriuretic peptide level increased circulating beta - 2 - microglobulin level increased circulating n - acetyl aspartic acid level increased deep tendon reflexes in the lower limbs increased disialylated core 1 o - glycan level increased fucosylation of n - linked protein glycosylation increased fucosylation of o - linked protein glycosylation increased glutamine family amino acid level in urine increased high - mannose n - glycan level increased level of anti - bacteria ige antibody increased level of anti - dander ige antibody increased level of anti - drug ige antibody increased level of anti - gluten ige antibody increased level of anti - seafood ige antibody increased level of antigen - precipitating igg antibodies increased level of d - threitol in csf increased level of d - threitol in plasma increased level of d - threitol in urine increased level of galactitol in red blood cells increased level of galactonate in red blood cells increased level of l - fucose in urine increased level of n - benzoylglycine in blood increased level of n - benzoylglycine in urine increased level of o - phosphoethanolamine in urine increased mannosylation of n - linked protein glycosylation increased monosialylated core 1 o - glycan level increased n - acetyl aspartate levels in csf increased number of elastic fiber in the dermis increased number of elastic fibers in the dermis increased number of elastic fibre in the dermis increased number of elastic fibres in the dermis increased proportion of cd19+ / cd21low b cells increased proportion of cd4 - positive t cells increased proportion of cd4+ effector memory t cells increased proportion of gamma - delta t cells increased proportion of gamma - delta t lymphocytes increased ratio of vwf propeptide to vwf antigen increased serum insulin - like growth factor 1 increased sialylation of n - linked protein glycosylation increased truncated complex n - glycans on glycoproteins increased urinary 8 - oxo - gsn level increased urinary alpha - 1 - acid glycoprotein increased urinary high - mannose - type oligosaccharide increased urinary non - proteinogenic amino acid level increased vertical cup - to - disc ratio inflammation of the inner lining of the uterus insulin - dependent but ketosis - resistant diabetes intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material intracellular accumulation of dol - pp - glcnac2man5 intratubular tamm - horsfall ( uromodulin ) cast intratubular tamm - horsfall ( uromodulin ) casts intrauterine fetal demise of one twin after midgestation intrauterine foetal demise of one twin after midgestation involuntary muscle stiffness , contraction , or spasm irregular end part of the 2nd toe bone irregular end part of the 3rd toe bone irregular end part of the 4th toe bone irregular end part of the innermost hand bone irregular end part of the innermost hand bones irregular end part of the little finger bone irregular end part of the little finger bones irregular end part of the little toe bone irregular end part of the outermost hand bone irregular end part of the outermost hand bones irregular end part of the pinkie finger bone irregular end part of the pinkie finger bones irregular end part of the pinkie toe bone irregular end part of the pinky finger bone irregular end part of the pinky finger bones irregular end part of the pinky toe bone irregular end part of the ring finger bone irregular end part of the ring finger bones irregular end part of thumb innermost long bone irregular epiphyses of the phalanges of the hand irregular epiphysis of the phalanx of the hand ivory epiphyses of the phalanges of the hand ivory epiphysis of the phalanx of the hand joint contracture involve the joint of the foot joint contractures involving the joints of the feet knuckle pad on dorsal aspect of finger joint knuckle pads on dorsal aspect of finger joints large epiphysis of proximal middle - finger phalanx large vacuolated foam cell on bone marrow biopsy large vacuolated foam cells on bone marrow biopsy late - onset form of familial alzheimer disease late closure of soft spot on the skull leave aortic arch with retroesophageal diverticulum of kommerell leave aortic arch with retroesophageal right subclavian artery leave superior vena cava drain to coronary sinus left aortic arch with retroesophageal diverticulum of kommerell left aortic arch with retroesophageal right subclavian artery left superior vena cava draining to coronary sinus less than 10 fetal movement in 12 hour less than 10 fetal movements in 12 hours less than 10 foetal movement in 12 hour less than 10 foetal movements in 12 hours linear array of macular hyperkeratoses in flexural area linear arrays of macular hyperkeratoses in flexural areas liquefactive necrosis within arcuate vein intima / media liquefactive necrosis within arcuate vein intima / medium liquefactive necrosis within interlobular arterial intima / media liquefactive necrosis within interlobular arterial intima / medium liquefactive necrosis within interlobular vein intima / media liquefactive necrosis within interlobular vein intima / medium loss of ability to walk in early childhood loss of ability to walk in first decade loss of purkinje cell in the cerebellar vermis loss of purkinje cells in the cerebellar vermis loss of subcutaneous adipose tissue from upper limb loss of subcutaneous adipose tissue from upper limbs low - grade adenocarcinoma of endolymphatic sac origin low number of red blood cell or haemoglobin low number of red blood cell or hemoglobin low number of red blood cells or haemoglobin low number of red blood cells or hemoglobin low urinary cyclic amp response to pth administration lytic defect in metaphyses of the upper limb lytic defect of terminal phalanx of middle finger lytic defects in metaphyses of the upper limbs macular hypopigmented whorl , streak , and patch macular hypopigmented whorls , streaks , and patches malformation of the orbital region of the face midline skin dimple over anterior / posterior fontanelle midline skin dimples over anterior / posterior fontanelles mixed hypo - and hyperpigmentation of the skin mottle pigmentation of the trunk and proximal extremity mottled pigmentation of the trunk and proximal extremities multifocal hyperintensity of cerebral white matter on mri multifocal hypointensity of cerebral white matter on mri multilamellation of basement membrane within cortical peritubular capillary multilamellation of basement membrane within medullary peritubular capillary multilamellation of basement membranes within cortical peritubular capillaries multilamellation of basement membranes within medullary peritubular capillaries multiple bilateral congenital hypertrophy of retinal pigment epithelium multiple flat light - brown mark on skin multiple flat light - brown marks on skin myxomatous change within arcuate vein intima / media myxomatous change within arcuate vein intima / medium narrow , high - arch roof of mouth narrow , high - arched roof of mouth narrowing of blood vessel below aortic heart valve narrowing of blood vessel in back of eye narrowing of blood vessels in back of eye narrowness of interpediculate distance in low thoracic region narrowness of interpediculate distances in lower thoracic regions neonatal electro - clinical motor seizure with automatism neonatal electro - clinical non - motor seizure neonatal electro - clinical seizure with behavior arrest neonatal electro - clinical seizure with behaviour arrest neurofibrillary tangle compose of disordered microtubule in neuron neurofibrillary tangles composed of disordered microtubules in neurons neutropenia in presence of anti - neutropil antibodies neutropenia in presence of anti - neutropil antibody non - midline cleft of the upper lip number of teeth decrease by more than six number of teeth decreased by more than six numerous multiple fracture that be present at birth numerous multiple fractures that are present at birth organize thrombus within the medullary peritubular capillary lumen organized thrombi within the medullary peritubular capillary lumen orofacial action - specific dystonia induce by speech orofacial action - specific dystonia induced by speech osteoarthritis of the small joint of the hand osteoarthritis of the small joints of the hand osteolytic defect of the phalanx of the hallux osteolytic defect of the phalanx of the hand osteolytic defect of the phalanx of the thumb osteolytic defect of the phalanx of the toe osteolytic defects of the phalanges of the hallux osteolytic defects of the phalanges of the hand osteolytic defects of the phalanges of the thumb osteolytic defects of the phalanges of the toes overgrowth of the inside of the frontal bone pachygyria with 5 - 10 mm cortical thickness painful noncancerous fat tissue tumor under the skin painful noncancerous fat tissue tumour under the skin pallor of dorsal column of the spinal cord pallor of dorsal columns of the spinal cord paradoxical increase cortisol secretion on dexamethasone suppression test paradoxical increased cortisol secretion on dexamethasone suppression test paralysis or weakness of one side of body parathormone - independent increase renal tubular ca reabsorption parathormone - independent increase renal tubular ca2+ reabsorption parathormone - independent increase renal tubular calcium reabsorption parathormone - independent increased renal tubular ca reabsorption parathormone - independent increased renal tubular ca2+ reabsorption parathormone - independent increased renal tubular calcium reabsorption paresis of extensor muscle of the big toe paresis of extensor muscles of the big toe partial - complete absence of 5th digital bone partial / complete duplication of little finger bone partial / complete duplication of pinkie finger bone partial / complete duplication of pinky finger bone partial / complete duplication of the 1st metacarpal partial duplication of phalanx of the 2nd toe partial duplication of the innermost 2nd toe bone partial duplication of the innermost little finger bone partial duplication of the innermost pinkie finger bone partial duplication of the innermost pinky finger bone partial duplication of the middle bone of hand partial duplication of the middle bones of hand partial duplication of the middle little finger bone partial duplication of the middle pinkie finger bone partial duplication of the middle pinky finger bone partial duplication of the phalanges of the hallux partial duplication of the phalanges of the thumb partial duplication of the phalanx of the hallux partial duplication of the phalanx of the thumb partial fusion of innermost row of wrist bone partial fusion of innermost row of wrist bones partial fusion of proximal row of carpal bone partial fusion of proximal row of carpal bones partial onset seizure evolve into convulsive status epilepticus partial onset seizure evolving into convulsive status epilepticus partial or complete agenesis of the corpus callosum partial or complete syndactyly 2nd - 3rd toe partial or complete syndactyly 2nd - 3rd toes partial or complete syndactyly 3rd - 4th finger partial or complete syndactyly 3rd - 4th fingers partially dislocate innermost hinge joint of little finger partially dislocate innermost hinge joint of pinkie finger partially dislocate innermost hinge joint of pinky finger partially dislocated innermost hinge joint of little finger partially dislocated innermost hinge joint of pinkie finger partially dislocated innermost hinge joint of pinky finger patchy sclerosis of the phalanges of the hallux patchy sclerosis of the phalanges of the hand patchy sclerosis of the phalanges of the thumb patchy sclerosis of the phalanges of the toes patchy sclerosis of the phalanx of the hallux patchy sclerosis of the phalanx of the hand patchy sclerosis of the phalanx of the thumb patchy sclerosis of the phalanx of the toe perifoveal ring of hyperautofluorescence surround by abnormal autofluorescence perifoveal ring of hyperautofluorescence surround by normal autofluorescence perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence perivascular inflammation of arteriole in the pulmonary circulation perivascular inflammation of arterioles in the pulmonary circulation perivascular inflammation of pre - capillary pulmonary arteries perivascular inflammation of pre - capillary pulmonary artery permanent enlargement of the airway of the lung permanent enlargement of the airways of the lungs persistent posterior fetal fibrovascular sheath of the lens persistent posterior foetal fibrovascular sheath of the lens photically induce myoclonic - tonic - clonic seizure photically induced myoclonic - tonic - clonic seizure pre - b - cell acute lymphoblastic leukaemia pre - b - cell acute lymphoblastic leukemia premature birth follow premature rupture of fetal membrane premature birth follow premature rupture of foetal membrane premature birth following premature rupture of fetal membranes premature birth following premature rupture of foetal membranes premature fusion of end part of digital bone presence of anti - nmdar antibody in blood progressive loss of subcutaneous adipose tissue from face prominent central ridge on roof of the mouth proximal / middle symphalangism of the 2nd finger pseudoepiphyses of middle phalanx of middle - finger pseudoepiphyses of the distal phalanges of the hand pseudoepiphyses of the distal phalanx of the hand pseudoepiphyses of the middle phalanges of the hand pseudoepiphyses of the middle phalanx of the hand pseudoepiphyses of the proximal phalanges of the hand pseudoepiphyses of the proximal phalanx of the hand pseudoepiphysis of the distal phalanx of the hallux pseudoepiphysis of the distal phalanx of the thumb pseudoepiphysis of the outermost bone of the thumb pseudoepiphysis of the proximal phalanx of the hallux pseudoepiphysis of the proximal phalanx of the thumb pulmonary interstitial high - resolution compute tomography abnormality pulmonary interstitial high - resolution computed tomography abnormality pulmonary situs ambiguus with bilateral morphologic leave lung pulmonary situs ambiguus with bilateral morphologic left lungs pulmonary situs ambiguus with bilateral morphologic right lung pulmonary situs ambiguus with bilateral morphologic right lungs quiver upper heart chamber result in irregular heartbeat quivering upper heart chambers resulting in irregular heartbeat rectilinear intracellular accumulation of autofluorescent lipopigment storage material recurrent breakdown of clear protective layer of eye red scaly skin cause by inflammatory skin disease red scaly skin caused by inflammatory skin disease reduce anterior - posterior diameter of vertebral body reduce brain choline level by magnetic resonance spectroscopy reduce brain creatine level by magnetic resonance spectroscopy reduce brain lactate level by magnetic resonance spectroscopy reduce circulate beta - 2 - microglobulin level reduce orotidine 5 - prime phosphate decarboxylase level reduce proportion of cd4+ effector memory t cell reduce proportion of gamma - delta t cell reduce ration of renal ca2+ to creatinine clearance reduced anterior - posterior diameter of vertebral bodies reduced brain choline level by magnetic resonance spectroscopy reduced brain creatine level by magnetic resonance spectroscopy reduced brain lactate level by magnetic resonance spectroscopy reduced circulating beta - 2 - microglobulin level reduced orotidine 5 - prime phosphate decarboxylase level reduced proportion of cd4+ effector memory t cells reduced proportion of gamma - delta t cells reduced ration of renal ca2+ to creatinine clearance renal arteriole intima / media storage material accumulation renal arteriole intima / medium storage material accumulation rhomboid or triangular shape 5th finger distal phalanx rhomboid or triangular shape 5th finger middle phalanx rhomboid or triangular shape 5th finger proximal phalanx rhomboid or triangular shape fifth finger middle phalanx rhomboid or triangular shaped 5th finger distal phalanx rhomboid or triangular shaped 5th finger middle phalanx rhomboid or triangular shaped 5th finger proximal phalanx rhomboid or triangular shaped fifth finger middle phalanx right aortic arch with aberrant leave subclavian artery right aortic arch with aberrant left subclavian artery right aortic arch with anomalous left subclavian artery right aortic arch with retroesophageal diverticulum of kommerell right aortic arch with retroesophageal leave subclavian artery right aortic arch with retroesophageal left subclavian artery scar tissue replace healthy tissue in the liver scar tissue replaces healthy tissue in the liver sclerosis of the distal phalanges of the hand sclerosis of the distal phalanges of the toes sclerosis of the distal phalanx of the hallux sclerosis of the distal phalanx of the hand sclerosis of the distal phalanx of the thumb sclerosis of the distal phalanx of the toe sclerosis of the middle phalanges of the hand sclerosis of the middle phalanges of the toes sclerosis of the middle phalanx of the hand sclerosis of the middle phalanx of the toe sclerosis of the phalanges of the 2nd finger sclerosis of the phalanges of the 2nd toe sclerosis of the phalanges of the 3rd finger sclerosis of the phalanges of the 3rd toe sclerosis of the phalanges of the 4th finger sclerosis of the phalanges of the 4th toe sclerosis of the phalanges of the 5th finger sclerosis of the phalanges of the 5th toe sclerosis of the phalanx of the 2nd finger sclerosis of the phalanx of the 2nd toe sclerosis of the phalanx of the 3rd finger sclerosis of the phalanx of the 3rd toe sclerosis of the phalanx of the 4th finger sclerosis of the phalanx of the 4th toe sclerosis of the phalanx of the 5th finger sclerosis of the phalanx of the 5th toe sclerosis of the proximal phalanges of the hand sclerosis of the proximal phalanges of the toes sclerosis of the proximal phalanx of the hallux sclerosis of the proximal phalanx of the hand sclerosis of the proximal phalanx of the thumb sclerosis of the proximal phalanx of the toe severe myopia ( > - 6.00 diopter ) severe myopia ( > - 6.00 diopters ) short , cube shape long bone of hand short , cube shaped long bone of hand short - trunk dwarfism , identifiable in infancy short fetal long bone in upper arm length short foetal long bone in upper arm length short than typical length between neck and abdomen shortening of all distal phalanges of the fingers shortening of all distal phalanges of the toes shortening of all distal phalanx of the finger shortening of all distal phalanx of the toe shortening of all innermost bone of the finger shortening of all innermost bones of the fingers shortening of all middle phalanges of the fingers shortening of all middle phalanges of the toes shortening of all middle phalanx of the finger shortening of all middle phalanx of the toe shortening of all outermost bone of the finger shortening of all outermost bone of the toe shortening of all outermost bone of the toes shortening of all outermost bones of the fingers shortening of all proximal phalanges of the fingers shortening of all proximal phalanx of the finger shorter than typical length between neck and abdomen single isolate congenital hypertrophy of retinal pigment epithelium single isolated congenital hypertrophy of retinal pigment epithelium skin dimple over apex of long bone angulation slender shaft of long bone in upper arm slop metaphysis of long bone of upper arm sloping metaphysis of long bone of upper arm slow or block flow of bile from liver slowed or blocked flow of bile from liver small end part of the 2nd toe bone small end part of the 3rd toe bone small end part of the 4th toe bone small end part of the big toe bone small end part of the innermost hand bone small end part of the innermost hand bones small end part of the little toe bone small end part of the middle hand bone small end part of the middle hand bones small end part of the outermost hand bone small end part of the outermost hand bones small end part of the pinkie toe bone small end part of the pinky toe bone small end part of thumb innermost long bone small epiphyses of the phalanges of the hand small epiphysis of the phalanx of the hand small yellow foveal lesion with surround gray zone small yellow foveal lesion with surround grey zone small yellow foveal lesion with surrounding gray zone small yellow foveal lesion with surrounding grey zone sparse scalp , axillary , and pubic hair speckled calcification in bone end part in neonate speckled calcification in end part of finger bone speckled calcification in end part of thumb bone speckled calcifications in bone end parts in neonates speckled calcifications in end part of finger bones speckled calcifications in end part of thumb bone spider vein of the roof of the mouth spider veins of the roof of the mouth spinal nerve root neurofibroma , symmetric , multiple spinal nerve root neurofibromas , symmetric , multiple spur metaphysis of long bone of upper arm spurred metaphysis of long bone of upper arm square metaphysis of long bone of upper arm steroid - sensitive nephrotic syndrome with frequent relapse steroid - sensitive nephrotic syndrome with frequent relapses steroid - sensitive nephrotic syndrome with infrequent relapse steroid - sensitive nephrotic syndrome with infrequent relapses stippling of the epiphyses of the 2nd finger stippling of the epiphyses of the 2nd toe stippling of the epiphyses of the 3rd finger stippling of the epiphyses of the 3rd toe stippling of the epiphyses of the 4th finger stippling of the epiphyses of the 4th toe stippling of the epiphyses of the 5th finger stippling of the epiphyses of the 5th toe stippling of the epiphysis of the 1st metacarpal stippling of the epiphysis of the 1st metatarsal stippling of the epiphysis of the 2nd finger stippling of the epiphysis of the 2nd toe stippling of the epiphysis of the 3rd finger stippling of the epiphysis of the 3rd toe stippling of the epiphysis of the 4th finger stippling of the epiphysis of the 4th toe stippling of the epiphysis of the 5th finger stippling of the epiphysis of the 5th toe subepidermal blister with cleavage in the lamina lucida subepidermal blistering with cleavage in the lamina lucida subluxation of the small joint of the hand subluxation of the small joints of the hand substantia nigra hypointensity on susceptibility - weight imaging substantia nigra hypointensity on susceptibility - weighted imaging supraventricular tachycardia with an accessory connection mediate pathway supraventricular tachycardia with an accessory connection mediated pathway supraventricular tachycardia with an accessory connexion mediate pathway supraventricular tachycardia with an accessory connexion mediated pathway swan neck - like deformities of the fingers swan neck - like deformity of the finger swell cause by excess lymph fluid under skin swelling caused by excess lymph fluid under skin symmetrical , oval defect in the parietal bone symmetrical , oval defects in the parietal bone symphalangism affect the distal phalanx of the hallux symphalangism affect the distal phalanx of the hand symphalangism affect the distal phalanx of the toe symphalangism affect the middle phalanx of the toe symphalangism affect the phalanx of the 2nd toe symphalangism affect the phalanx of the 3rd toe symphalangism affect the phalanx of the 4th toe symphalangism affect the phalanx of the 5th toe symphalangism affect the proximal phalanx of the hallux symphalangism affect the proximal phalanx of the hand symphalangism affect the proximal phalanx of the toe symphalangism affecting the distal phalanges of the hand symphalangism affecting the distal phalanges of the toes symphalangism affecting the distal phalanx of the hallux symphalangism affecting the middle phalanges of the toes symphalangism affecting the phalanges of the 2nd toe symphalangism affecting the phalanges of the 3rd toe symphalangism affecting the phalanges of the 4th toe symphalangism affecting the phalanges of the 5th toe symphalangism affecting the proximal phalanges of the hand symphalangism affecting the proximal phalanges of the toes symphalangism affecting the proximal phalanx of the hallux syndactyly of toe 2 , 3 and 4 syndactyly of toes 2 , 3 and 4 synostosis of the fourth and fifth metacarpal bone synostosis of the fourth and fifth metacarpal bones synostosis of third and the fourth metacarpal bone synostosis of third and the fourth metacarpal bones teeth with thin dentin and large pulp chamber teeth with thin dentin and large pulp chambers telangiectases in sun - expose and nonexposed skin telangiectases in sun - exposed and nonexposed skin tetralogy of fallot with absent pulmonary valve syndrome thicken glomerular basement membrane with electron dense deposit thickened glomerular basement membranes with electron dense deposits thickening of connective tissue of innermost finger bone thickening of the lateral border of the scapula thinning and bulging of occipital bone of skull thinning and bulging of the posterior fossa bone thinning and bulging of the posterior fossa bones thyroid defect in oxidation and organification of iodide triangular end part of the 2nd toe bone triangular end part of the 3rd toe bone triangular end part of the 4th toe bone triangular end part of the big toe bone triangular end part of the innermost hand bone triangular end part of the innermost hand bones triangular end part of the little toe bone triangular end part of the middle hand bone triangular end part of the middle hand bones triangular end part of the outermost hand bone triangular end part of the outermost hand bones triangular end part of the pinkie toe bone triangular end part of the pinky toe bone triangular end part of thumb innermost long bone triangular epiphyses of the phalanges of the hand triangular epiphysis of the phalanx of the hand triangular shape distal phalanx of the 2nd finger triangular shape distal phalanx of the 2nd toe triangular shape distal phalanx of the 3rd finger triangular shape distal phalanx of the 4th finger triangular shape distal phalanx of the 5th finger triangular shape distal phalanx of the 5th toe triangular shape innermost bone of the 4th finger triangular shape innermost bone of the ring finger triangular shape middle bone of the middle finger triangular shape middle bone of the ring finger triangular shape middle finger bone of the hand triangular shape middle phalanx of the 2nd finger triangular shape middle phalanx of the 2nd toe triangular shape middle phalanx of the 3rd finger triangular shape middle phalanx of the 4th finger triangular shape middle phalanx of the 5th finger triangular shape outermost bone of the 2nd finger triangular shape outermost bone of the big toe triangular shape outermost bone of the little toe triangular shape outermost bone of the middle finger triangular shape outermost bone of the pinkie toe triangular shape outermost bone of the pinky toe triangular shape outermost bone of the ring finger triangular shape proximal phalanx of the 2nd finger triangular shape proximal phalanx of the 2nd toe triangular shape proximal phalanx of the 3rd finger triangular shape proximal phalanx of the 4th finger triangular shape proximal phalanx of the 5th finger triangular shaped distal phalanx of the 2nd finger triangular shaped distal phalanx of the 2nd toe triangular shaped distal phalanx of the 3rd finger triangular shaped distal phalanx of the 4th finger triangular shaped distal phalanx of the 5th finger triangular shaped distal phalanx of the 5th toe triangular shaped innermost bone of the 4th finger triangular shaped innermost bone of the ring finger triangular shaped middle bone of the middle finger triangular shaped middle bone of the ring finger triangular shaped middle finger bones of the hand triangular shaped middle phalanx of the 2nd finger triangular shaped middle phalanx of the 2nd toe triangular shaped middle phalanx of the 3rd finger triangular shaped middle phalanx of the 4th finger triangular shaped middle phalanx of the 5th finger triangular shaped outermost bone of the 2nd finger triangular shaped outermost bone of the big toe triangular shaped outermost bone of the little toe triangular shaped outermost bone of the middle finger triangular shaped outermost bone of the pinkie toe triangular shaped outermost bone of the pinky toe triangular shaped outermost bone of the ring finger triangular shaped proximal phalanx of the 2nd finger triangular shaped proximal phalanx of the 2nd toe triangular shaped proximal phalanx of the 3rd finger triangular shaped proximal phalanx of the 4th finger triangular shaped proximal phalanx of the 5th finger ultra - low vision with no light perception ultra - low vision with retained light perception ultra - low vision with retained light projection ultra - low vision with retained motion projection underdevelopment of part of brain call corpus callosum underdevelopment of part of brain called corpus callosum undetectable light - and dark - adapt electroretinogram undetectable light - and dark - adapted electroretinogram uneven increase in bone density in finger bone uneven increase in bone density in hand bone uneven increase in bone density in hand bones uneven increase in bone density in thumb bone uneven increase in bone density in toe bone univentricular heart with absent left side atrioventricular connection univentricular heart with absent left side atrioventricular connexion univentricular heart with absent left sided atrioventricular connection univentricular heart with absent left sided atrioventricular connexion upward slanting of the opening between the eyelid upward slanting of the opening between the eyelids wasting of the out part of the retina wasting of the outer part of the retina white mater abnormalities in the posterior periventricular region white mater abnormality in the posterior periventricular region wide / broad metaphyses of the upper limb wide / broad metaphyses of the upper limbs wide shaft of long bone in upper arm wide space between the 4th and 5th toe wrinkled skin of hand and foot in newborn wrinkled skin of hands and feet in newborn y - shaped central long bone of hand y - shaped central long bones of hand 'generalised ' tonic - clonic seizure with focal onset 'generalised ' tonic - clonic seizure with partial onset 'generalized ' tonic - clonic seizure with focal onset 'generalized ' tonic - clonic seizure with partial onset abnormal amplitude of dark - adapted bright flash electroretinogram abnormal amplitude of dark - adapted dim flash electroretinogram abnormal amplitude of light - adapt single flash electroretinogram abnormal amplitude of light - adapted single flash electroretinogram abnormal brain n - acetyl aspartate level by mr abnormal brain n - acetyl aspartate level by mrs abnormal central microtubular pair morphology of respiratory motile cilia abnormal central microtubular pair morphology of respiratory motile cilium abnormal circulate beta - c - terminal telopeptide level abnormal circulate complement factor h related protein 1 concentration abnormal circulate long - chain fatty - acid concentration abnormal circulate short - chain fatty - acid concentration abnormal circulating beta - c - terminal telopeptide level abnormal circulating complement factor h related protein 1 concentration abnormal circulating long - chain fatty - acid concentration abnormal circulating short - chain fatty - acid concentration abnormal concentration of complex n - glycans on glycoprotein abnormal concentration of complex n - glycans on glycoproteins abnormal distribution of cd56 bright / dim nk cell abnormal distribution of cd56 bright / dim nk cells abnormal epiphysis morphology of the phalanges of the hand abnormal epiphysis morphology of the phalanx of the hand abnormal glutamine family amino acid level in cerebrospinal fluid abnormal glutamine family amino acid levels in cerebrospinal fluid abnormal level of natural antibody to blood group agent abnormal level of natural antibody to blood group agents abnormal liver function test during pregnancy , resolve postpartum abnormal liver function tests during pregnancy , resolves postpartum abnormal maturation of the end part of a bone abnormal morphology of the posterior segment of the globe abnormal morphology of the proximal phalanx of the hallux abnormal proportion of cd4 - positive effector memory cell abnormal proportion of cd4 - positive effector memory cells abnormal proportion of cd4 - positive helper t cell abnormal proportion of cd4 - positive helper t cells abnormal proportion of class - switched memory b cell abnormal proportion of class - switched memory b cells abnormal proportion of gamma - delta t - lymphocyte abnormal proportion of gamma - delta t - lymphocytes abnormal proportion of immature gamma - delta t cell abnormal proportion of immature gamma - delta t cells abnormal proportion of immature gamma - delta t lymphocyte abnormal proportion of immature gamma - delta t lymphocytes abnormal response to gonadotropin - release hormone stimulation test abnormal response to gonadotropin - releasing hormone stimulation test abnormal serum insulin - like growth factor 1 level abnormal timing of dark - adapted bright flash electroretinogram abnormal timing of dark - adapted dim flash electroretinogram abnormal timing of light - adapt single flash electroretinogram abnormal timing of light - adapted single flash electroretinogram abnormal transfer factor of the lung for carbon monoxide abnormal uridine diphosphate glucose - 4 - epimerase level abnormalities of shaft of long bone of the hand abnormality of bone of the orbit of the skull abnormality of bones of the orbit of the skull abnormality of circulate beta - 2 - microglobulin level abnormality of circulating beta - 2 - microglobulin level abnormality of end part of long bone of foot abnormality of end part of long bone of hand abnormality of end part of thumb innermost long bone abnormality of multiple cell lineage in the bone marrow abnormality of multiple cell lineages in the bone marrow abnormality of pattern onset / offset visual evoked potential abnormality of pattern onset / offset visual evoked potentials abnormality of shaft of long bone in upper arm abnormality of shaft of long bone of the hand abnormality of shaft of long bone of the limb abnormality of shaft of long bone of the limbs abnormality of the distal phalanx of the 2nd finger abnormality of the distal phalanx of the 2nd toe abnormality of the distal phalanx of the 3rd finger abnormality of the distal phalanx of the 3rd toe abnormality of the distal phalanx of the 4th finger abnormality of the distal phalanx of the 4th toe abnormality of the distal phalanx of the 5th finger abnormality of the distal phalanx of the 5th toe abnormality of the distal phalanx of the little finger abnormality of the dorsal column of the spinal cord abnormality of the end part of the calf bone abnormality of the end part of the foot bone abnormality of the end part of the hand bone abnormality of the end part of the hand bones abnormality of the end part of the innermost thighbone abnormality of the end part of the outermost thighbone abnormality of the end part of the ring finger abnormality of the end part of the toe bone abnormality of the end part of the toe bones abnormality of the innermost bone of the 2nd toe abnormality of the innermost bone of the little toe abnormality of the innermost bone of the pinkie toe abnormality of the innermost bone of the pinky toe abnormality of the innermost end part of calf bone abnormality of the innermost finger bone of the hand abnormality of the innermost finger bones of the hand abnormality of the marrow cavity of the long bone abnormality of the marrow cavity of the long bones abnormality of the medullary cavity of the long bone abnormality of the medullary cavity of the long bones abnormality of the middle bone of the 2nd toe abnormality of the middle bone of the little toe abnormality of the middle bone of the pinkie toe abnormality of the middle bone of the pinky toe abnormality of the middle finger bone of the hand abnormality of the middle finger bones of the hand abnormality of the middle phalanx of the 2nd finger abnormality of the middle phalanx of the 2nd toe abnormality of the middle phalanx of the 3rd finger abnormality of the middle phalanx of the 3rd toe abnormality of the middle phalanx of the 4th finger abnormality of the middle phalanx of the 4th toe abnormality of the middle phalanx of the 5th finger abnormality of the middle phalanx of the 5th toe abnormality of the middle phalanx of the ring finger abnormality of the mineralisation or ossification of the epiphyses abnormality of the mineralisation or ossification of the epiphysis abnormality of the outermost bone of the 2nd finger abnormality of the outermost bone of the 2nd toe abnormality of the outermost bone of the 3rd finger abnormality of the outermost bone of the 3rd toe abnormality of the outermost bone of the big toe abnormality of the outermost bone of the little toe abnormality of the outermost bone of the pinkie toe abnormality of the outermost bone of the pinky toe abnormality of the outermost end part of calf bone abnormality of the proximal phalanx of the 2nd finger abnormality of the proximal phalanx of the 3rd finger abnormality of the proximal phalanx of the 4th finger abnormality of the proximal phalanx of the 5th finger abnormality of the proximal phalanx of the ring finger abnormality of the red part of the upper lip abnormality of the reflex of the tensor tympani muscle abnormality of the terminal phalanx of the little finger abnormality of the wide portion of a long bone abnormality of the wide portion of the femoral bone abnormality of the wide portion of the hand bone abnormality of the wide portion of upper limb bone abnormally loud pulmonic component of the second heart sound absence of overlap of anterior upper and low teeth absence of overlap of anterior upper and lower teeth absence of some of the sacral and coccygeal bone absence of some of the sacral and coccygeal bones absence of the reflex of the tensor tympani muscle absence or narrowing of first part of small bowel absent / small innermost finger bone of the hand absent / small innermost finger bones of the hand absent / small middle bone of the 4th toe absent / small middle bone of the middle finger absent / small middle finger bone of the hand absent / small outermost finger bone of the hand absent / underdevelop innermost finger bone of the hand absent / underdevelop middle bone of the 4th toe absent / underdevelop middle bone of the middle finger absent / underdevelop middle finger bone of the hand absent / underdevelop outermost finger bone of the hand absent / underdeveloped innermost finger bones of the hand absent / underdeveloped middle bone of the 4th toe absent / underdeveloped middle bone of the middle finger absent / underdeveloped middle finger bone of the hand absent / underdeveloped outermost finger bone of the hand absent central microtubular pair morphology of respiratory motile cilia absent central microtubular pair morphology of respiratory motile cilium absent end part of the long bone of hand absent epiphyses of the distal phalanges of the hand absent epiphyses of the middle phalanges of the hand absent epiphyses of the proximal phalanges of the hand absent epiphysis of the distal phalanx of the hallux absent epiphysis of the distal phalanx of the hand absent epiphysis of the distal phalanx of the thumb absent epiphysis of the middle phalanx of the hand absent epiphysis of the proximal phalanx of the hallux absent epiphysis of the proximal phalanx of the hand absent epiphysis of the proximal phalanx of the thumb absent microvilli on the surface of peripheral blood lymphocyte absent microvilli on the surface of peripheral blood lymphocytes absent of the outermost bone of the middle finger absent spinous process of low thoracic and lumbar vertebra absent spinous processes of lower thoracic and lumbar vertebrae accumulation of acid in body due to kidney problem acute vesiculation and crusting and scar follow sun exposure acute vesiculation and crusting and scarring following sun exposure anaemia due to reduced life span of red cell anaemia due to reduced life span of red cells anemia due to reduced life span of red cell anemia due to reduced life span of red cells anomalous origin of coronary artery from the pulmonary artery anomalous origin of left pulmonary artery from ascend aorta anomalous origin of left pulmonary artery from ascending aorta anomalous origin of one pulmonary artery from ascend aorta anomalous origin of one pulmonary artery from ascending aorta anomalous origin of right pulmonary artery from ascend aorta anomalous origin of right pulmonary artery from ascending aorta anomaly of shaft of long bone of low limb anomaly of shaft of long bone of lower limb anterior tongue - like protrusion of lumbar vertebral bodies anterior tongue - like protrusion of lumbar vertebral body anti - carbonic anhydrase - related protein viii antibody anti - collapsin response - mediate protein 5 antibody anti - collapsin response - mediated protein 5 antibody anti - gamma - aminobutyric acid b receptor antibody anti - la / ss - b antibody positivity anti - liver cytosolic antigen type 1 antibody positivity anti - neuronal nuclear antibody type - 1 antibody anti - p / q - type vgcc antibody anti - purkinje cell cytoplasmic type - 2 antibody anti - ro / s - a antibody positivity anti - ro / ss - a antibody positivity aplasia / hypoplasia affect bone of the axial skeleton aplasia / hypoplasia affecting bones of the axial skeleton aplasia / hypoplasia involve bone of the low limb aplasia / hypoplasia involve bone of the upper limb aplasia / hypoplasia involve the femoral head and neck aplasia / hypoplasia involve the musculature of the extremity aplasia / hypoplasia involving bones of the lower limbs aplasia / hypoplasia involving bones of the upper limbs aplasia / hypoplasia involving the femoral head and neck aplasia / hypoplasia involving the musculature of the extremities aplasia / hypoplasia of the musculature of the pelvis aplasia / hypoplasia of the musculature of the thigh aplasia / hypoplasia of the phalanges of the hallux aplasia / hypoplasia of the phalanges of the hand aplasia / hypoplasia of the phalanges of the thumb aplasia / hypoplasia of the phalanges of the toes aplasia / hypoplasia of the phalanx of the hallux aplasia / hypoplasia of the phalanx of the hand aplasia / hypoplasia of the phalanx of the thumb aplasia / hypoplasia of the phalanx of the toe aplasia of the distal phalanx of the 2nd finger aplasia of the distal phalanx of the 2nd toe aplasia of the distal phalanx of the 3rd finger aplasia of the distal phalanx of the 3rd toe aplasia of the distal phalanx of the 4th finger aplasia of the distal phalanx of the 4th toe aplasia of the distal phalanx of the 5th finger aplasia of the distal phalanx of the 5th toe aplasia of the inferior half of the cerebellar vermis aplasia of the middle phalanx of the 2nd finger aplasia of the middle phalanx of the 2nd toe aplasia of the middle phalanx of the 3rd finger aplasia of the middle phalanx of the 3rd toe aplasia of the middle phalanx of the 4th finger aplasia of the middle phalanx of the 4th toe aplasia of the middle phalanx of the 5th finger aplasia of the middle phalanx of the 5th toe aplasia of the proximal phalanx of the 2nd finger aplasia of the proximal phalanx of the 2nd toe aplasia of the proximal phalanx of the 3rd finger aplasia of the proximal phalanx of the 3rd toe aplasia of the proximal phalanx of the 4th finger aplasia of the proximal phalanx of the 4th toe aplasia of the proximal phalanx of the 5th finger aplasia of the proximal phalanx of the 5th toe apneic episode precipitate by illness , fatigue , stress apneic episodes precipitated by illness , fatigue , stress asymmetry of right and leave side of the maxilla asymmetry of right and left side of the maxilla basal lamina 'onion bulb ' formation on nerve biopsy basal lamina 'onion bulb ' formations on nerve biopsy bicuspid aortic valve with left - noncoronary cusp fusion bicuspid aortic valve with right - leave cusp fusion bicuspid aortic valve with right - left cusp fusion bicuspid aortic valve with right - noncoronary cusp fusion blebbing of apical cytoplasm of renal tubular epithelial cell blebbing of apical cytoplasm of renal tubular epithelial cells blister with sub - lamina densa plane of cleavage blistering with sub - lamina densa plane of cleavage blockage of the rear opening of the nasal cavity blood pressure substantially high in upper than low extremity blood pressure substantially higher in low than upper extremity blood pressure substantially higher in lower than upper extremities blood pressure substantially higher in upper than lower extremities blood pressure substantially low in upper than low extremity blood pressure substantially lower in upper than lower extremities bowing of thighbone at birth , straighten with time bowing of thighbone at birth , straightening with time bracket epiphyses of the distal phalanges of the hand bracket epiphyses of the middle phalanges of the hand bracket epiphyses of the proximal phalanges of the hand bracket epiphysis of the distal phalanx of the hallux bracket epiphysis of the distal phalanx of the hand bracket epiphysis of the distal phalanx of the thumb bracket epiphysis of the middle phalanx of the hand bracket epiphysis of the proximal phalanx of the hallux bracket epiphysis of the proximal phalanx of the hand bracket epiphysis of the proximal phalanx of the thumb bracket shape end part of long bone of hand bracket shape end part of the innermost hand bone bracket shape end part of the middle hand bone bracket shape end part of the outermost hand bone bracket shape end part of thumb innermost long bone bracket shape end part of thumb outermost long bone bracket shaped end part of long bone of hand bracket shaped end part of the innermost hand bones bracket shaped end part of the middle hand bones bracket shaped end part of the outermost hand bones bracket shaped end part of thumb innermost long bone bracket shaped end part of thumb outermost long bone broad shaft of long bone of the upper limb broad shaft of long bone of the upper limbs bulging of wall of large artery locate above heart bulging of wall of large artery located above heart bullet - shape innermost bone of the big toe bullet - shape innermost bone of the middle finger bullet - shape innermost finger bone of the hand bullet - shape middle bone of the 3rd toe bullet - shape middle bone of the 4th finger bullet - shape middle bone of the 4th toe bullet - shape middle bone of the little toe bullet - shape middle bone of the pinkie toe bullet - shape middle bone of the pinky toe bullet - shape middle phalanx of the 2nd finger bullet - shape middle phalanx of the 2nd toe bullet - shape middle phalanx of the 3rd finger bullet - shape middle phalanx of the 3rd toe bullet - shape middle phalanx of the 4th finger bullet - shape middle phalanx of the 4th toe bullet - shape middle phalanx of the 5th finger bullet - shape middle phalanx of the 5th toe bullet - shape outermost bone of the 2nd toe bullet - shape outermost bone of the 3rd toe bullet - shape outermost bone of the 4th toe bullet - shape outermost bone of the index finger bullet - shape outermost bone of the little toe bullet - shape outermost bone of the middle finger bullet - shape outermost bone of the pinkie toe bullet - shape outermost bone of the pinky toe bullet - shape outermost finger bone of the hand bullet - shape proximal bone of the 3rd toe bullet - shape proximal bone of the 4th toe bullet - shape proximal phalanx of the 2nd finger bullet - shape proximal phalanx of the 2nd toe bullet - shape proximal phalanx of the 3rd finger bullet - shape proximal phalanx of the 3rd toe bullet - shape proximal phalanx of the 4th finger bullet - shape proximal phalanx of the 4th toe bullet - shape proximal phalanx of the 5th finger bullet - shape proximal phalanx of the 5th toe bullet - shaped distal phalanx of the 2nd finger bullet - shaped distal phalanx of the 2nd toe bullet - shaped distal phalanx of the 3rd finger bullet - shaped distal phalanx of the 3rd toe bullet - shaped distal phalanx of the 4th finger bullet - shaped distal phalanx of the 4th toe bullet - shaped distal phalanx of the 5th finger bullet - shaped distal phalanx of the 5th toe bullet - shaped innermost bone of the big toe bullet - shaped innermost bone of the middle finger bullet - shaped innermost finger bones of the hand bullet - shaped middle bone of the 3rd toe bullet - shaped middle bone of the 4th finger bullet - shaped middle bone of the 4th toe bullet - shaped middle bone of the little toe bullet - shaped middle bone of the pinkie toe bullet - shaped middle bone of the pinky toe bullet - shaped middle phalanx of the 2nd finger bullet - shaped middle phalanx of the 2nd toe bullet - shaped middle phalanx of the 3rd finger bullet - shaped middle phalanx of the 3rd toe bullet - shaped middle phalanx of the 4th finger bullet - shaped middle phalanx of the 4th toe bullet - shaped middle phalanx of the 5th finger bullet - shaped middle phalanx of the 5th toe bullet - shaped outermost bone of the 2nd toe bullet - shaped outermost bone of the 3rd toe bullet - shaped outermost bone of the 4th toe bullet - shaped outermost bone of the index finger bullet - shaped outermost bone of the little toe bullet - shaped outermost bone of the middle finger bullet - shaped outermost bone of the pinkie toe bullet - shaped outermost bone of the pinky toe bullet - shaped outermost finger bone of the hand bullet - shaped proximal bone of the 3rd toe bullet - shaped proximal bone of the 4th toe bullet - shaped proximal phalanx of the 2nd finger bullet - shaped proximal phalanx of the 2nd toe bullet - shaped proximal phalanx of the 3rd finger bullet - shaped proximal phalanx of the 3rd toe bullet - shaped proximal phalanx of the 4th finger bullet - shaped proximal phalanx of the 4th toe bullet - shaped proximal phalanx of the 5th finger bullet - shaped proximal phalanx of the 5th toe calcification of the soft - tissue around the shoulder calcification of the soft - tissue around the shoulders chronic ( near ) absent total igg in blood clouding of the lens of the eye at birth clouding of the lens of the eye with age combine hamartoma of the retinal pigment epithelium and retina combine pre - and post - capillary pulmonary hypertension combined hamartoma of the retinal pigment epithelium and retina combined pre - and post - capillary pulmonary hypertension complete / partial duplication of phalanges of the thumb complete / partial duplication of phalanx of the thumb complete duplication of the 1st long bone of foot complete duplication of the bone of the index finger complete duplication of the bone of the ring finger complete duplication of the bones of the index finger complete duplication of the bones of the ring finger complete duplication of the distal phalanges of the hand complete duplication of the distal phalanx of the hallux complete duplication of the distal phalanx of the hand complete duplication of the first long bone of hand complete duplication of the innermost bone of big toe complete duplication of the innermost bone of the hand complete duplication of the innermost bone of the thumb complete duplication of the innermost bones of the hand complete duplication of the middle bone of the hand complete duplication of the middle bones of the hand complete duplication of the middle phalanges of the hand complete duplication of the middle phalanx of the hand complete duplication of the outermost bone of the hand complete duplication of the outermost bones of the hand complete duplication of the phalanges of the 2nd finger complete duplication of the phalanges of the 2nd toe complete duplication of the phalanges of the 3rd finger complete duplication of the phalanges of the 4th finger complete duplication of the phalanges of the 5th finger complete duplication of the phalanx of the 2nd finger complete duplication of the phalanx of the 2nd toe complete duplication of the phalanx of the 3rd finger complete duplication of the phalanx of the 4th finger complete duplication of the phalanx of the 5th finger complete duplication of the proximal phalanges of the hand complete duplication of the proximal phalanx of the hallux complete duplication of the proximal phalanx of the hand cone - shaped end part of middle finger bone cone - shaped end part of the index finger cone - shaped end part of the toe bone cone - shaped end part of the toe bones cone - shaped end part of thumb long bone cone - shaped epiphyses of phalanges 2 to 5 cone - shaped epiphysis of phalanx 2 to 5 cone - shaped epiphysis of proximal index finger phalanx contracture of the distal interphalangeal joint of the finger contracture of the distal interphalangeal joint of the fingers contracture of the metacarpophalangeal joint of the 2nd finger contracture of the metacarpophalangeal joint of the 3rd finger contracture of the metacarpophalangeal joint of the 4th finger contracture of the metacarpophalangeal joint of the 5th finger contracture of the metatarsophalangeal joint of the 2nd toe contracture of the metatarsophalangeal joint of the 3rd toe contracture of the metatarsophalangeal joint of the 4th toe contracture of the metatarsophalangeal joint of the 5th toe contracture of the proximal interphalangeal joint of the finger contractures of the proximal interphalangeal joints of the fingers corticotropin - release hormone receptor ( crhr ) resistance corticotropin - releasing hormone receptor ( crhr ) resistance cupping of wide portion of long bone of hand cyclic neutropenia in myeloid maturation arrest in bone marrow dark spot around tooth root on x - ray decrease circulate beta - c - terminal telopeptide level decrease in high molecular weight von willebrand factor multimers decrease in size of one side of the face decrease level of gamma - aminobutyric acid in serum decrease light - and dark - adapted electroretinogram amplitude decrease lymphocyte proliferation in response to anti - cd3 decrease o - mannosyl glycans on alpha - dystroglycan decrease post bronchodilator force expiratory volume in one second decrease postbronchodilator force expiratory flow 25 - 75 % decrease prebronchodilator force expiratory flow 25 - 75 % decreased activities of mitochondrial - encoded respiratory chain complexes decreased activity of cytochrome c oxidase in muscle tissue decreased activity of mitochondrial - encoded respiratory chain complex decreased circulate very - low - density lipoprotein level decreased circulating beta - c - terminal telopeptide level decreased circulating very - low - density lipoprotein levels decreased concentration of sialylated n - glycans on glycoprotein decreased concentration of sialylated n - glycans on glycoproteins decreased level of gamma - aminobutyric acid in serum decreased light - and dark - adapted electroretinogram amplitude decreased lymphocyte proliferation in response to anti - cd3 decreased o - mannosyl glycans on alpha - dystroglycan decreased post bronchodilator forced expiratory volume in one second decreased postbronchodilator forced expiratory flow 25 - 75 % decreased prebronchodilator forced expiratory flow 25 - 75 % decreased proportion of cd4 - positive central memory cell decreased proportion of cd4 - positive central memory cells decreased proportion of cd4 - positive helper t cell decreased proportion of cd4 - positive helper t cells decreased proportion of class - switched memory b cell decreased proportion of class - switched memory b cells decreased proportion of gamma - delta t - cell decreased proportion of gamma - delta t - cells decreased proportion of gamma - delta t - lymphocyte decreased proportion of gamma - delta t - lymphocytes decreased proportion of immature gamma - delta t cell decreased proportion of immature gamma - delta t cells decreased proportion of immature gamma - delta t lymphocyte decreased proportion of immature gamma - delta t lymphocytes defective proliferation of lymphocyte follow anti - cd3 stimulation defective proliferation of lymphocytes following anti - cd3 stimulation deficiency of n - acetylglucosamine - 1 - phosphotransferase delay bone maturation of end part of digital bone delay maturation / delay ossification of the humeral epiphysis delay maturation of the head of the thigh bone delayed bone maturation of end part of digital bone delayed closure of the soft spot on the skull delayed maturation / delayed ossification of the humeral epiphyses delayed maturation of the head of the thigh bone diffusion weight magnetic resonance imaging ( dwi ) abnormality diffusion weighted magnetic resonance imaging ( dwi ) abnormality distal amyotrophy , especially of the hand and foot distal amyotrophy , especially of the hands and feet dorv with non - commit vsd and pulmonary stenosis dorv with non - committed vsd and pulmonary stenosis dorv with non - committed vsd without pulmonary stenosis double inlet to single ventricle with common atrioventricular orifice double inlet to single ventricle with two atrioventricular valve double inlet to single ventricle with two atrioventricular valves double outlet right ventricle , noncommitted ventricular septal defect duplication of the distal phalanx of the 2nd finger duplication of the distal phalanx of the 2nd toe duplication of the distal phalanx of the 3rd finger duplication of the distal phalanx of the 3rd toe duplication of the distal phalanx of the 4th finger duplication of the distal phalanx of the 4th toe duplication of the distal phalanx of the 5th finger duplication of the distal phalanx of the 5th toe duplication of the distal phalanx of the fifth toe duplication of the distal phalanx of the fourth toe duplication of the distal phalanx of the third toe duplication of the innermost bone of the little toe duplication of the innermost bone of the pinkie toe duplication of the innermost bone of the pinky toe duplication of the middle bone of the 3rd toe duplication of the middle bone of the 4th toe duplication of the middle bone of the little toe duplication of the middle bone of the middle finger duplication of the middle bone of the pinkie toe duplication of the middle bone of the pinky toe duplication of the middle phalanx of the 2nd finger duplication of the middle phalanx of the 2nd toe duplication of the middle phalanx of the 3rd finger duplication of the middle phalanx of the 3rd toe duplication of the middle phalanx of the 4th finger duplication of the middle phalanx of the 4th toe duplication of the middle phalanx of the 5th finger duplication of the middle phalanx of the 5th toe duplication of the middle phalanx of the fifth toe duplication of the middle phalanx of the fourth toe duplication of the middle phalanx of the third toe duplication of the outermost bone of the 2nd toe duplication of the outermost bone of the 3rd toe duplication of the outermost bone of the 4th toe duplication of the outermost bone of the fifth toe duplication of the outermost bone of the little toe duplication of the outermost bone of the pinkie toe duplication of the outermost bone of the pinky toe duplication of the proximal bone of the index finger duplication of the proximal bone of the middle finger duplication of the proximal bone of the ring finger duplication of the proximal bones of the index finger duplication of the proximal phalanx of the 2nd finger duplication of the proximal phalanx of the 2nd toe duplication of the proximal phalanx of the 3rd finger duplication of the proximal phalanx of the 3rd toe duplication of the proximal phalanx of the 4th finger duplication of the proximal phalanx of the 4th toe duplication of the proximal phalanx of the 5th finger duplication of the proximal phalanx of the 5th toe duplication of the proximal phalanx of the fifth toe duplication of the proximal phalanx of the fourth toe duplication of the proximal phalanx of the second toe duplication of the proximal phalanx of the third toe eeg with 3 - 4 - hz spike wave eeg with 3 - 4 - hz spike waves eeg with 4 - 5 / second background activity elevate alkaline phosphatase , liver / bone / kidney elevate brain n - acetyl aspartate level by mr elevate circulate interleukin - 2 receptor alpha - chain elevate imprint of occipital bone over the transverse sinus elevate proportion of immature gamma - delta t cell elevated alkaline phosphatase , liver / bone / kidney elevated brain n - acetyl aspartate level by mrs elevated circulating interleukin - 2 receptor alpha - chain elevated imprint of occipital bone over the transverse sinuses elevated proportion of immature gamma - delta t cells endoarterial hypercellularity within arcuate artery consisting of foam cell endoarterial hypercellularity within arcuate artery consisting of foam cells endocapillary hypercellularity within interlobular arterial endothelium consisting of neutrophil endocapillary hypercellularity within interlobular arterial endothelium consisting of neutrophils enlarge wide portion of long bone of upper arm enlarged epiphyses of the distal phalanges of the hand enlarged epiphyses of the middle phalanges of the hand enlarged epiphyses of the proximal phalanges of the hand enlarged epiphysis of the distal phalanx of the hallux enlarged epiphysis of the distal phalanx of the hand enlarged epiphysis of the distal phalanx of the thumb enlarged epiphysis of the middle phalanx of the hand enlarged epiphysis of the proximal phalanx of the hallux enlarged epiphysis of the proximal phalanx of the hand enlarged epiphysis of the proximal phalanx of the thumb enlarged wide portion of long bone of upper arm enlargement of the inner surface of the frontal bone enlargement of the inner surface of the skull bone enlargement of the inner surface of the skull bones epiphyseal abnormality of middle phalanx of the 2nd finger excessive growth of inner surface of the frontal bone excessive growth of inner surface of the skull bone excessive growth of inner surface of the skull bones excessive skin wrinkle on back of hand and finger excessive skin wrinkle on dorsum of hand and finger excessive skin wrinkling on back of hands and fingers excessive skin wrinkling on dorsum of hands and fingers extension of hair growth on temple to lateral eyebrow extension of hair growth on temples to lateral eyebrow facial muscle weakness of muscle innervate by cn vii facial muscle weakness of muscles innervated by cn vii facial palsy cause by excessive growth of facial bone facial palsy caused by excessive growth of facial bones failure of development of between one and six teeth failure of development of the condylar process of mandible false joint ( long bone in upper arm ) femoral bow present at birth , straighten with time femoral bowing present at birth , straightening with time flare wide portion of long bone of upper arm flared wide portion of long bone of upper arm flatten , square - off epiphysis of tubular bone flatten end part of long bone in upper arm flattened , squared - off epiphyses of tubular bones flattened end part of long bone in upper arm focal autonomic seizure with urge to urinate / defecate focal aware autonomic seizure with pupillary dilation / constriction focal aware cognitive seizure with conduction dysphasia / aphasia focal aware cognitive seizure with expressive dysphasia / aphasia focal aware cognitive seizure with left - right confusion focal aware cognitive seizure with receptive dysphasia / aphasia focal aware sensory seizure with hot - cold sensation focal aware sensory seizure with hot - cold sensations focal cognitive seizure with deja vu / jamais vu focal emotional seizure with fear / anxiety / panic focal epileptiform discharge with limited propagation to contralateral hemisphere focal epileptiform discharges with limited propagation to contralateral hemisphere focal impair awareness autonomic seizure with pallor / flushing focal impair awareness cognitive seizure with dyscalculia / acalculia focal impair awareness cognitive seizure with dysgraphia / agraphia focal impair awareness cognitive seizure with dyslexia / alexia focal impair awareness motor seizure with dysarthria / anarthria focal impair awareness motor seizure with paresis / paralysis focal impaired awareness autonomic seizure with pallor / flushing focal impaired awareness cognitive seizure with dyscalculia / acalculia focal impaired awareness cognitive seizure with dysgraphia / agraphia focal impaired awareness cognitive seizure with dyslexia / alexia focal impaired awareness motor seizure with dysarthria / anarthria focal impaired awareness motor seizure with paresis / paralysis focal motor impair awareness seizure with dysarthria / anarthria focal motor impair awareness seizure with paresis / paralysis focal motor impaired awareness seizure with dysarthria / anarthria focal motor impaired awareness seizure with paresis / paralysis focal non - convulsive status epilepticus with retained awareness focal onset seizure evolve into bilateral convulsive status epilepticus focal onset seizure evolving into bilateral convulsive status epilepticus foot and ankle bend up toward shin of leg fragmentation of end part of long bone of thumb fragmentation of end part of thumb innermost long bone fragmentation of the end part of the toe bone fragmentation of the end part of the toe bones fuse long bone of hand with innermost finger bone fuse of innermost and middle bone of middle finger fused long bone of hand with innermost finger bone fused of innermost and middle bones of middle finger gap between upper and low front teeth when bite gap between upper and lower front teeth when biting generalise - onset myoclonic - tonic - clonic seizure generalise hypotonia due to defect at the neuromuscular junction generalised - onset myoclonic - tonic - clonic seizure generalised hypotonia due to defect at the neuromuscular junction generalize - onset myoclonic - tonic - clonic seizure generalize hypotonia due to defect at the neuromuscular junction generalized - onset myoclonic - tonic - clonic seizure generalized hypotonia due to defect at the neuromuscular junction glomerular hyalinosis away from the vascular and tubular pole glomerular hyalinosis away from the vascular and tubular poles gonadal tissue inappropriate for external genitalia or chromosomal sex growth of abnormal tissue on or under the skin high renal tubular epithelial cell n / c ratio hole in heart wall separate two low heart chamber hole in heart wall separate two upper heart chamber hole in heart wall separating two lower heart chambers hole in heart wall separating two upper heart chambers hyperintensity of mri t2 signal of the spinal cord hyperostosis of the internal surface of the cranial bone hyperostosis of the internal surface of the cranial bones hyperostosis of the internal surface of the frontal bone hypertrophy of the internal surface of the cranial bone hypertrophy of the internal surface of the cranial bones hypertrophy of the internal surface of the frontal bone hypoplastic / small distal phalanx of the 2nd finger hypoplastic / small distal phalanx of the 2nd toe hypoplastic / small distal phalanx of the 3rd finger hypoplastic / small distal phalanx of the 3rd toe hypoplastic / small distal phalanx of the 4th finger hypoplastic / small distal phalanx of the 4th toe hypoplastic / small distal phalanx of the 5th toe hypoplastic / small middle phalanx of the 2nd finger hypoplastic / small middle phalanx of the 2nd toe hypoplastic / small middle phalanx of the 3rd finger hypoplastic / small middle phalanx of the 3rd toe hypoplastic / small middle phalanx of the 4th finger hypoplastic / small middle phalanx of the 4th toe hypoplastic / small middle phalanx of the 5th finger hypoplastic / small middle phalanx of the 5th toe hypoplastic / small middle phalanx of the little finger hypoplastic / small proximal phalanx of the 2nd finger hypoplastic / small proximal phalanx of the 2nd toe hypoplastic / small proximal phalanx of the 3rd finger hypoplastic / small proximal phalanx of the 3rd toe hypoplastic / small proximal phalanx of the 4th finger hypoplastic / small proximal phalanx of the 4th toe hypoplastic / small proximal phalanx of the 5th finger hypoplastic / small proximal phalanx of the 5th toe hypoplastic / small terminal phalanx of the little finger immunoglobulin e - mediate plant base food allergen allergy immunoglobulin e - mediated plant based food allergen allergy impaired collagen - relate peptide - induced platelet aggregation impaired collagen - related peptide - induced platelet aggregation impaired cortisol response to corticotropin release hormone stimulation test impaired cortisol response to corticotropin releasing hormone stimulation test impaired growth - hormone response to glucagon stimulation test impaired growth - hormone response to insulin stimulation test impairment of the reflex of the tensor tympani muscle increase anti - alpha - gal ige antibody level increase anti - house dust mite ige antibody level increase anti - nut food product ige antibody level increase bone density in 1st long bone of hand increase bone density in long bone of upper arm increase bone density in middle finger bone of hand increase bone density in the outermost little finger bone increase bone density in the outermost pinkie finger bone increase bone density in the outermost pinky finger bone increase bone density in wide portion of long bone increase bone density of end part of the thumb increase bone density of end part of the toe increase c - c motif chemokine ligand 18 concentration increase circulate beta - c - terminal telopeptide level increase circulate complement factor h related protein 1 concentration increase circulate very - low - density lipoprotein cholesterol increase circulate very - low - density lipoprotein level increase circulate very long - chain fatty acid concentration increase concentration of complex n - glycans on glycoprotein increase concentration of sialylated n - glycans on glycoprotein increase level of anti - animal protein ige antibody increase level of anti - dust mite ige antibody increase level of anti - food allergen ige antibody increase level of anti - house dust ige antibody increase level of d - threitol in cerebrospinal fluid increase level of gamma - aminobutyric acid in serum increase level of gamma - aminobutyric acid in urine increase level of l - glutamic acid in blood increase level of l - pyroglutamic acid in urine increase level of n - acetylneuraminic acid in fibroblast increase level of n - acetylneuraminic acid in urine increase n - acetyl aspartic acid level in csf increase plasma vitamin k epoxide after vitamin k supplementation increase proportion of class - switched memory b cell increase proportion of gamma - delta t - cell increase proportion of gamma - delta t - lymphocyte increase proportion of immature gamma - delat t lymphocyte increase proportion of immature gamma - delta t cell increase prothrombin induce by vitamin k absence - ii increase serum bile acid concentration during pregnancy , resolve increase sulfur - contain amino acid level in urine increase urinary 8 - oxo - 7,8 - dihydroguanosine increase urine 8 - oxo - 7,8 - dihydroguanosine increased anti - alpha - gal ige antibody level increased anti - house dust mite ige antibody level increased anti - nut food product ige antibody level increased bone density in 1st long bone of hand increased bone density in long bone of upper arm increased bone density in middle finger bone of hand increased bone density in the outermost little finger bone increased bone density in the outermost pinkie finger bone increased bone density in the outermost pinky finger bone increased bone density in wide portion of long bone increased bone density of end part of the thumb increased bone density of end part of the toes increased c - c motif chemokine ligand 18 concentration increased circulating beta - c - terminal telopeptide level increased circulating complement factor h related protein 1 concentration increased circulating very - low - density lipoprotein cholesterol increased circulating very - low - density lipoprotein levels increased circulating very long - chain fatty acid concentration increased concentration of complex n - glycans on glycoproteins increased concentration of sialylated n - glycans on glycoproteins increased level of anti - animal protein ige antibody increased level of anti - dust mite ige antibody increased level of anti - food allergen ige antibody increased level of anti - house dust ige antibody increased level of d - threitol in cerebrospinal fluid increased level of gamma - aminobutyric acid in serum increased level of gamma - aminobutyric acid in urine increased level of l - glutamic acid in blood increased level of l - pyroglutamic acid in urine increased level of n - acetylneuraminic acid in fibroblasts increased level of n - acetylneuraminic acid in urine increased n - acetyl aspartic acid levels in csf increased plasma vitamin k epoxide after vitamin k supplementation increased proportion of class - switched memory b cells increased proportion of gamma - delta t - cells increased proportion of gamma - delta t - lymphocytes increased proportion of immature gamma - delat t lymphocytes increased proportion of immature gamma - delta t cells increased prothrombin induced by vitamin k absence - ii increased serum bile acid concentration during pregnancy , resolves increased sulfur - containing amino acid level in urine increased urinary 8 - oxo - 7,8 - dihydroguanosine increased urine 8 - oxo - 7,8 - dihydroguanosine inflammation of the outer white part of the eye instability or lack of coordination of central trunk muscle instability or lack of coordination of central trunk muscles intermittent episode of respiratory insufficiency due to muscle weakness intermittent episodes of respiratory insufficiency due to muscle weakness intimal mucoid edema within interlobular arterial intima / media intimal mucoid edema within interlobular arterial intima / medium irregular end part of long bone in upper arm irregular end part of the innermost little finger bone irregular end part of the innermost pinkie finger bone irregular end part of the innermost pinky finger bone irregular end part of the long bone of hand irregular epiphyses of the distal phalanges of the hand irregular epiphyses of the middle phalanges of the hand irregular epiphyses of the proximal phalanges of the hand irregular epiphysis of the distal phalanx of the hallux irregular epiphysis of the distal phalanx of the hand irregular epiphysis of the distal phalanx of the thumb irregular epiphysis of the middle phalanx of the hand irregular epiphysis of the proximal phalanx of the hallux irregular epiphysis of the proximal phalanx of the hand irregular epiphysis of the proximal phalanx of the thumb irregular wide portion of long bone in upper arm ivory epiphyses of the distal phalanges of the hand ivory epiphyses of the middle phalanges of the hand ivory epiphyses of the proximal phalanges of the hand ivory epiphysis of the distal phalanx of the hallux ivory epiphysis of the distal phalanx of the hand ivory epiphysis of the distal phalanx of the thumb ivory epiphysis of the middle phalanx of the hand ivory epiphysis of the proximal phalanx of the hallux ivory epiphysis of the proximal phalanx of the hand ivory epiphysis of the proximal phalanx of the thumb lack of bladder control due to nervous system injury lamellated / basket - woven thicken glomerular basement membrane lamellated / basket - woven thickened glomerular basement membranes large clump of pigment irregularly distribute along hair shaft large clumps of pigment irregularly distributed along hair shaft large end part of long bone in upper arm later than typical closing of soft spot of skull laterally slop metaphysis of long bone of upper arm laterally sloping metaphysis of long bone of upper arm left and right leg differ in length or width linear c3 deposit along the epidermal basement membrane zone linear c3 deposits along the epidermal basement membrane zone linear iga deposit along the epidermal basement membrane zone linear iga deposits along the epidermal basement membrane zone linear igg deposit along the epidermal basement membrane zone linear igg deposits along the epidermal basement membrane zone liquefactive necrosis of the arcuate artery intima / media liquefactive necrosis of the arcuate artery intima / medium liquefactive necrosis of the renal arteriolar intima / media liquefactive necrosis of the renal arteriolar intima / medium loss of fat tissue below the skin in glut loss of fat tissue below the skin in gluts loss of fat tissue below the skin in limb loss of fat tissue below the skin in limbs loss of subcutaneous adipose tissue from face , progressive low thyroid gland function due to abnormal pituitary gland lytic defect of the phalanx of the little finger lytic defect of the phalanx of the ring finger lytic defects of the phalanges of the little finger lytic defects of the phalanges of the ring finger morphological abnormality of the nerve of the inner ear morphological abnormality of the nerves of the inner ear morphological abnormality of the vestibule of the inner ear muscle issue in the arm and / or leg muscle issues in the arms and / or legs muscle weakness , distal limb , due to neuronopathy muscle weakness , distal limbs , due to neuronopathy narrowing of esophagus due to inflammation and scar tissue narrowing of oesophagus due to inflammation and scar tissue narrowing of passageway from out ear to middle ear narrowing of passageway from outer ear to middle ear narrowing of the rear opening of the nasal cavity neurogenic muscle atrophy , especially in the low limb neurogenic muscle atrophy , especially in the lower limbs neuronal / glioneuronal neoplasm of the central nervous system not able to finish a normal - size meal not able to finish a normal - sized meal obstruction of the rear opening of the nasal cavity only one artery in umbilical cord instead of two orotidine - 5 - prime - phosphate decarboxylase defect osteolytic defect of the distal phalanx of the hallux osteolytic defect of the distal phalanx of the hand osteolytic defect of the distal phalanx of the thumb osteolytic defect of the distal phalanx of the toe osteolytic defect of the middle phalanx of the hand osteolytic defect of the middle phalanx of the toe osteolytic defect of the outermost bone of the thumb osteolytic defect of the phalanx of the 2nd finger osteolytic defect of the phalanx of the 2nd toe osteolytic defect of the phalanx of the 3rd finger osteolytic defect of the phalanx of the 3rd toe osteolytic defect of the phalanx of the 4th finger osteolytic defect of the phalanx of the 4th toe osteolytic defect of the phalanx of the 5th finger osteolytic defect of the phalanx of the 5th toe osteolytic defect of the proximal phalanx of the hallux osteolytic defect of the proximal phalanx of the hand osteolytic defect of the proximal phalanx of the thumb osteolytic defect of the proximal phalanx of the toe osteolytic defects of the distal phalanges of the hand osteolytic defects of the distal phalanges of the toes osteolytic defects of the distal phalanx of the hallux osteolytic defects of the distal phalanx of the thumb osteolytic defects of the middle phalanges of the hand osteolytic defects of the middle phalanges of the toes osteolytic defects of the outermost bone of the thumb osteolytic defects of the phalanges of the 2nd finger osteolytic defects of the phalanges of the 2nd toe osteolytic defects of the phalanges of the 3rd finger osteolytic defects of the phalanges of the 3rd toe osteolytic defects of the phalanges of the 4th finger osteolytic defects of the phalanges of the 4th toe osteolytic defects of the phalanges of the 5th finger osteolytic defects of the phalanges of the 5th toe osteolytic defects of the proximal phalanges of the hand osteolytic defects of the proximal phalanges of the toes osteolytic defects of the proximal phalanx of the hallux osteolytic defects of the proximal phalanx of the thumb osteomyelitis lead to amputation due to slow healing fracture osteomyelitis leading to amputation due to slow healing fractures overgrowth of the inner surface of the frontal bone overgrowth of the inner surface of the skull bone overgrowth of the inner surface of the skull bones pachygyria with cortical thickness > 10 mm anterior predominant pachygyria with cortical thickness > 10 mm perisylvian predominant pachygyria with cortical thickness over 10 mm posterior predominant paralysis due to lesion of the principle motor tract paralysis due to lesions of the principle motor tracts partial - onset seizure evolve into convulsive status epilepticus partial - onset seizure evolving into convulsive status epilepticus partial absence of specific antibody response to meningococcus vaccine partial absence of specific antibody response to tetanus vaccine partial duplication of the 1st long bone of foot partial duplication of the bone of the index finger partial duplication of the bone of the ring finger partial duplication of the bones of the index finger partial duplication of the bones of the ring finger partial duplication of the distal phalanges of the hand partial duplication of the distal phalanx of the hallux partial duplication of the distal phalanx of the hand partial duplication of the innermost bone of 3rd toe partial duplication of the innermost bone of 4th toe partial duplication of the innermost bone of big toe partial duplication of the innermost bone of the hand partial duplication of the innermost bones of the hand partial duplication of the middle bone of 3rd toe partial duplication of the middle phalanges of the hand partial duplication of the middle phalanx of the hand partial duplication of the outermost bone of big toe partial duplication of the outermost bone of the hand partial duplication of the phalanges of the 2nd finger partial duplication of the phalanges of the 3rd finger partial duplication of the phalanges of the 4th finger partial duplication of the phalanges of the 5th finger partial duplication of the phalanx of the 2nd finger partial duplication of the phalanx of the 3rd finger partial duplication of the phalanx of the 4th finger partial duplication of the phalanx of the 5th finger partial duplication of the proximal phalanges of the hand partial duplication of the proximal phalanx of the hallux partial duplication of the proximal phalanx of the hand partial or complete collapse of part or entire lung patchy sclerosis of the distal phalanges of the hand patchy sclerosis of the distal phalanges of the toes patchy sclerosis of the distal phalanx of the hallux patchy sclerosis of the distal phalanx of the hand patchy sclerosis of the distal phalanx of the thumb patchy sclerosis of the distal phalanx of the toe patchy sclerosis of the middle phalanges of the hand patchy sclerosis of the middle phalanges of the toes patchy sclerosis of the middle phalanx of the hand patchy sclerosis of the middle phalanx of the toe patchy sclerosis of the phalanges of the 2nd finger patchy sclerosis of the phalanges of the 2nd toe patchy sclerosis of the phalanges of the 3rd finger patchy sclerosis of the phalanges of the 3rd toe patchy sclerosis of the phalanges of the 4th finger patchy sclerosis of the phalanges of the 4th toe patchy sclerosis of the phalanges of the 5th finger patchy sclerosis of the phalanges of the 5th toe patchy sclerosis of the phalanx of the 2nd finger patchy sclerosis of the phalanx of the 2nd toe patchy sclerosis of the phalanx of the 3rd finger patchy sclerosis of the phalanx of the 3rd toe patchy sclerosis of the phalanx of the 4th finger patchy sclerosis of the phalanx of the 4th toe patchy sclerosis of the phalanx of the 5th finger patchy sclerosis of the phalanx of the 5th toe patchy sclerosis of the proximal phalanges of the hand patchy sclerosis of the proximal phalanges of the toes patchy sclerosis of the proximal phalanx of the hallux patchy sclerosis of the proximal phalanx of the hand patchy sclerosis of the proximal phalanx of the thumb patchy sclerosis of the proximal phalanx of the toe peg - like central prominence of distal tibial metaphyses pigmentation of the outer white part of the eyeball point wide portion of long bone of upper arm pointed wide portion of long bone of upper arm premature delivery because of cervical insufficiency or membrane fragility presence of anti - nmdar antibody in cerebrospinal fluid presence of terminal o - fucose glycans on properdin progressive paralysis or weakness of muscle of eye motility progressive paralysis or weakness of muscle of eye movement progressive paralysis or weakness of muscles of eye motility progressive paralysis or weakness of muscles of eye movement protrusion of upper teeth in front of low teeth protrusion of upper teeth in front of lower teeth pseudoepiphysis of the distal phalanx of the 2nd finger pseudoepiphysis of the distal phalanx of the 2nd toe pseudoepiphysis of the distal phalanx of the 3rd finger pseudoepiphysis of the distal phalanx of the 3rd toe pseudoepiphysis of the distal phalanx of the 4th finger pseudoepiphysis of the distal phalanx of the 4th toe pseudoepiphysis of the distal phalanx of the 5th finger pseudoepiphysis of the distal phalanx of the 5th toe pseudoepiphysis of the middle phalanx of the 2nd finger pseudoepiphysis of the middle phalanx of the 2nd toe pseudoepiphysis of the middle phalanx of the 3rd finger pseudoepiphysis of the middle phalanx of the 3rd toe pseudoepiphysis of the middle phalanx of the 4th finger pseudoepiphysis of the middle phalanx of the 4th toe pseudoepiphysis of the middle phalanx of the 5th finger pseudoepiphysis of the middle phalanx of the 5th toe pseudoepiphysis of the outermost bone of the middle finger pseudoepiphysis of the proximal phalanx of the 2nd finger pseudoepiphysis of the proximal phalanx of the 2nd toe pseudoepiphysis of the proximal phalanx of the 3rd finger pseudoepiphysis of the proximal phalanx of the 3rd toe pseudoepiphysis of the proximal phalanx of the 4th finger pseudoepiphysis of the proximal phalanx of the 4th toe pseudoepiphysis of the proximal phalanx of the 5th finger pseudoepiphysis of the proximal phalanx of the 5th toe reduce bone - marrow pro - b cell count reduce brain gamma - aminobutyric acid level by mr reduce brain n - acetyl aspartate level by mr reduce circulate complement factor h related protein 1 concentration reduce level of platelet glycoprotein iib / iiia complex reduce o - mannosyl glycans on alpha - dystroglycan reduce proportion of immature gamma - delta t cell reduce proportion of mucosal - associate invariant t cell reduce ratio of renal calcium clearance to creatinine clearance reduce ration of kidney calcium clearance to creatinine clearance reduce ration of renal ca clearance to creatinine clearance reduce response to gonadotropin - release hormone stimulation test reduced bone - marrow pro - b cell count reduced brain gamma - aminobutyric acid level by mrs reduced brain n - acetyl aspartate level by mrs reduced circulating complement factor h related protein 1 concentration reduced level of platelet glycoprotein iib / iiia complex reduced o - mannosyl glycans on alpha - dystroglycan reduced proportion of immature gamma - delta t cells reduced proportion of mucosal - associated invariant t cells reduced ratio of renal calcium clearance to creatinine clearance reduced ration of kidney calcium clearance to creatinine clearance reduced ration of renal ca clearance to creatinine clearance reduced response to gonadotropin - releasing hormone stimulation test respiratory cilia have shortened or absent outer dynein arms respiratory cilium have shorten or absent outer dynein arm rhomboid or triangular shape innermost bone of little finger rhomboid or triangular shape innermost bone of pinkie finger rhomboid or triangular shape innermost bone of pinky finger rhomboid or triangular shaped innermost bone of little finger rhomboid or triangular shaped innermost bone of pinkie finger rhomboid or triangular shaped innermost bone of pinky finger rosette - form glioneuronal tumor of the fourth ventricle rosette - form glioneuronal tumour of the fourth ventricle rosette - forming glioneuronal tumor of the fourth ventricle rosette - forming glioneuronal tumour of the fourth ventricle round end part of long bone in upper arm scar or clouding of the cornea of the eye scarring or clouding of the cornea of the eye sclerosis of the distal phalanx of the 2nd finger sclerosis of the distal phalanx of the 2nd toe sclerosis of the distal phalanx of the 3rd finger sclerosis of the distal phalanx of the 3rd toe sclerosis of the distal phalanx of the 4th finger sclerosis of the distal phalanx of the 4th toe sclerosis of the distal phalanx of the 5th finger sclerosis of the distal phalanx of the 5th toe sclerosis of the middle phalanx of the 2nd finger sclerosis of the middle phalanx of the 2nd toe sclerosis of the middle phalanx of the 3rd finger sclerosis of the middle phalanx of the 3rd toe sclerosis of the middle phalanx of the 4th finger sclerosis of the middle phalanx of the 4th toe sclerosis of the middle phalanx of the 5th finger sclerosis of the middle phalanx of the 5th toe sclerosis of the proximal phalanx of the 2nd finger sclerosis of the proximal phalanx of the 2nd toe sclerosis of the proximal phalanx of the 3rd finger sclerosis of the proximal phalanx of the 3rd toe sclerosis of the proximal phalanx of the 4th finger sclerosis of the proximal phalanx of the 4th toe sclerosis of the proximal phalanx of the 5th finger sclerosis of the proximal phalanx of the 5th toe segmental glomerulosclerosis away from the vascular and tubular pole segmental glomerulosclerosis away from the vascular and tubular poles short long bone of hand with rounded innermost end short long bone of hand with rounded innermost ends shortening of all the middle bone of the toe shortening of all the middle bones of the toes slit - like opening of the exterior auditory meatus small end part of long bone in upper arm small end part of the long bone of hand small epiphyses of the distal phalanges of the hand small epiphyses of the middle phalanges of the hand small epiphyses of the proximal phalanges of the hand small epiphysis of the distal phalanx of the hallux small epiphysis of the distal phalanx of the hand small epiphysis of the distal phalanx of the thumb small epiphysis of the middle phalanx of the hand small epiphysis of the proximal phalanx of the hallux small epiphysis of the proximal phalanx of the hand small epiphysis of the proximal phalanx of the thumb speckled calcification in end part of little finger bone speckled calcification in end part of middle finger bone speckled calcification in end part of pinkie finger bone speckled calcification in end part of pinky finger bone speckled calcification in end part of ring finger bone speckled calcification in end part of the index finger speckled calcifications in end part of little finger bone speckled calcifications in end part of middle finger bone speckled calcifications in end part of pinkie finger bone speckled calcifications in end part of pinky finger bone speckled calcifications in end part of ring finger bone speckled calcifications in end part of the index finger stenosis of the medullary cavity of the long bone stenosis of the medullary cavity of the long bones stiff lung or chest wall causing decrease lung volume stiff lung or chest wall causing decreased lung volume streak of hyperkeratosis along each finger onto the palm streaks of hyperkeratosis along each finger onto the palm swollen lymph node affect all region of the body swollen lymph nodes affecting all regions of the body symphalangism affect the distal phalanx of the 2nd toe symphalangism affect the distal phalanx of the 3rd toe symphalangism affect the distal phalanx of the 4th toe symphalangism affect the distal phalanx of the 5th toe symphalangism affect the middle phalanx of the 2nd toe symphalangism affect the middle phalanx of the 3rd toe symphalangism affect the middle phalanx of the 4th toe symphalangism affect the middle phalanx of the 5th toe symphalangism affect the proximal phalanx of the 2nd finger symphalangism affect the proximal phalanx of the 2nd toe symphalangism affect the proximal phalanx of the 3rd finger symphalangism affect the proximal phalanx of the 3rd toe symphalangism affect the proximal phalanx of the 4th finger symphalangism affect the proximal phalanx of the 4th toe symphalangism affect the proximal phalanx of the 5th finger symphalangism affect the proximal phalanx of the 5th toe symphalangism affecting the distal phalanx of the 2nd toe symphalangism affecting the distal phalanx of the 3rd toe symphalangism affecting the distal phalanx of the 4th toe symphalangism affecting the distal phalanx of the 5th toe symphalangism affecting the middle phalanx of the 2nd toe symphalangism affecting the middle phalanx of the 3rd toe symphalangism affecting the middle phalanx of the 4th toe symphalangism affecting the middle phalanx of the 5th toe symphalangism affecting the proximal phalanx of the 2nd finger symphalangism affecting the proximal phalanx of the 2nd toe symphalangism affecting the proximal phalanx of the 3rd finger symphalangism affecting the proximal phalanx of the 3rd toe symphalangism affecting the proximal phalanx of the 4th finger symphalangism affecting the proximal phalanx of the 4th toe symphalangism affecting the proximal phalanx of the 5th finger symphalangism affecting the proximal phalanx of the 5th toe t - wave inversion in the right precordial lead t - wave inversion in the right precordial leads thicken glomerular basement membrane with no electron dense deposit thickened glomerular basement membranes with no electron dense deposits thickening of shaft or central part of long bone thickening of shaft or central part of long bones thickening of the lateral border of the shoulder blade thin proximal phalanges with broad epiphyses of the hand thin proximal phalanx with broad epiphysis of the hand tractional retinal detachment at the periphery of the retina triangular end part of the long bone of hand triangular epiphyses of the distal phalanges of the hand triangular epiphyses of the middle phalanges of the hand triangular epiphyses of the proximal phalanges of the hand triangular epiphysis of the distal phalanx of the hallux triangular epiphysis of the distal phalanx of the hand triangular epiphysis of the distal phalanx of the thumb triangular epiphysis of the middle phalanx of the hand triangular epiphysis of the outermost bone of the thumb triangular epiphysis of the proximal phalanx of the hallux triangular epiphysis of the proximal phalanx of the hand triangular epiphysis of the proximal phalanx of the thumb type 1 and type 2 muscle fiber minicore region type 1 and type 2 muscle fiber minicore regions type 1 and type 2 muscle fibre minicore region type 1 and type 2 muscle fibre minicore regions type 1 fiber relatively small than type 2 fiber type 1 fibers relatively smaller than type 2 fibers type 1 fibre relatively small than type 2 fibre type 1 fibres relatively smaller than type 2 fibres uneven increase in bone density in 2nd toe bone uneven increase in bone density in 3rd toe bone uneven increase in bone density in 4th toe bone uneven increase in bone density in big toe bone uneven increase in bone density in index finger bone uneven increase in bone density in innermost finger bone uneven increase in bone density in innermost toe bone uneven increase in bone density in little finger bone uneven increase in bone density in little toe bone uneven increase in bone density in middle finger bone uneven increase in bone density in middle toe bone uneven increase in bone density in outermost finger bone uneven increase in bone density in outermost toe bone uneven increase in bone density in pinkie finger bone uneven increase in bone density in pinkie toe bone uneven increase in bone density in pinky finger bone uneven increase in bone density in pinky toe bone uneven increase in bone density in ring finger bone unfavorable response of muscle weakness to acetylcholine esterase inhibitor unfavorable response of muscle weakness to acetylcholine esterase inhibitors unfavourable response of muscle weakness to acetylcholine esterase inhibitor unfavourable response of muscle weakness to acetylcholine esterase inhibitors unknown onset behavioral arrest seizure with impairment of awareness unknown onset behavioural arrest seizure with impairment of awareness vertical linear mixed lucent and sclerotic pattern of metaphyses weakness in muscle of upper arm and upper leg weakness in muscles of upper arms and upper legs white of eye be a bluish - gray color white of eye be a bluish - gray colour whites of eyes are a bluish - gray color whites of eyes are a bluish - gray colour wide - than - typical soft spot of skull wide / broad middle phalanx of middle - finger wide end part of long bone in upper arm wide shaft of long bone of the upper limb wide shaft of long bone of the upper limbs wider - than - typical soft spot of skull yellow subcutaneous tissue cover by thin , scaly skin yellow subcutaneous tissue covered by thin , scaly skin abnormal amplitude of pattern onset / offset visual evoked potential abnormal amplitude of pattern onset / offset visual evoked potentials abnormal aspartate - family amino acid level in cerebrospinal fluid abnormal aspartate - family amino acid levels in cerebrospinal fluid abnormal branch - chain amino acid level in cerbrospinal fluid abnormal branched - chain amino acid levels in cerbrospinal fluid abnormal curving of the cornea or lens of the eye abnormal distribution of cd56 bright / dim natural killer cell abnormal distribution of cd56 bright / dim natural killer cells abnormal distribution of cell junction proteins in buccal mucosal cell abnormal distribution of cell junction proteins in buccal mucosal cells abnormal glucose - 6 - phosphate dehydrogenase level in blood abnormal glucose - 6 - phosphate dehydrogenase level in db abnormal glucose - 6 - phosphate dehydrogenase level in dbs abnormal glucose - 6 - phosphate dehydrogenase level in leukocyte abnormal glucose - 6 - phosphate dehydrogenase level in leukocytes abnormal glucose - 6 - phosphate dehydrogenase level in tissue abnormal high - mannose n - glycans on glycoprotein concentration abnormal isoelectric focusing of serum transferrin , type 2 pattern abnormal isoelectric focusing of serum transferrin , type i pattern abnormal isoelectric focusing of serum transferrin , type ii pattern abnormal level of protein in the broncho - alveolar fluid abnormal level of proteins in the broncho - alveolar fluid abnormal middle - ear - muscle ( mem ) reflex abnormal middle - ear - muscles ( mem ) reflex abnormal morphology of the chordae tendinae of the mitral valve abnormal morphology of the proximal phalanx of the 2nd toe abnormal morphology of the proximal phalanx of the 3rd toe abnormal morphology of the proximal phalanx of the 4th toe abnormal morphology of the proximal phalanx of the 5th toe abnormal presence of ultra - large von willebrand factor multimers abnormal proportion of immature gamma - delta t - cell abnormal proportion of immature gamma - delta t - cells abnormal proportion of immature gamma - delta t - lymphocyte abnormal proportion of immature gamma - delta t - lymphocytes abnormal pyruvate - family amino acid level in cerebrospinal fluid abnormal pyruvate - family amino acid levels in cerebrospinal fluid abnormal serine - family amino acid level in cerebrospinal fluid abnormal serine - family amino acid levels in cerebrospinal fluid abnormal shape of end part of low limb end bone abnormal shape of end part of lower limb end bone abnormal shape of end part of upper limb long bone abnormal shape of end part of upper limb long bones abnormal shape of the end part of the vertebra bone abnormal timing of pattern onset / offset visual evoked potential abnormal timing of pattern onset / offset visual evoked potentials abnormal tsh response to thyrotrophin - release hormone stimulation test abnormal tsh response to thyrotrophin - releasing hormone stimulation test abnormal udp - glucose 4 - epimerase level in rbc abnormal udp - glucose 4 - epimerase level in rbcs abnormality of shaft of long bone of the upper limb abnormality of shaft of long bone of the upper limbs abnormality of the concentration of heparan sulfate in the blood abnormality of the concentration of heparan sulphate in the blood abnormality of the end part of middle little finger bone abnormality of the end part of middle pinkie finger bone abnormality of the end part of middle pinky finger bone abnormality of the end part of the 2nd toe bone abnormality of the end part of the 3rd toe bone abnormality of the end part of the 4th toe bone abnormality of the end part of the big toe bone abnormality of the end part of the index finger bone abnormality of the end part of the innermost hand bone abnormality of the end part of the innermost hand bones abnormality of the end part of the little toe bone abnormality of the end part of the middle hand bone abnormality of the end part of the middle hand bones abnormality of the end part of the pinkie toe bone abnormality of the end part of the pinky toe bone abnormality of the epiphyses of the distal phalanx of finger abnormality of the epiphyses of the phalanges of the hand abnormality of the epiphysis of the distal phalanx of finger abnormality of the epiphysis of the phalanx of the hand absence or underdevelopment of the radius bone of the arm absent end part of innermost long bone of index finger absent end part of the 1st long bone of foot absent end part of the 1st long bone of hand absent end part of the innermost bone of little finger absent end part of the innermost bone of pinkie finger absent end part of the innermost bone of pinky finger absent epiphysis of the distal phalanx of the 2nd finger absent epiphysis of the distal phalanx of the 2nd toe absent epiphysis of the distal phalanx of the 3rd finger absent epiphysis of the distal phalanx of the 3rd toe absent epiphysis of the distal phalanx of the 4th finger absent epiphysis of the distal phalanx of the 4th toe absent epiphysis of the distal phalanx of the 5th finger absent epiphysis of the distal phalanx of the 5th toe absent epiphysis of the middle phalanx of the 2nd finger absent epiphysis of the middle phalanx of the 2nd toe absent epiphysis of the middle phalanx of the 3rd finger absent epiphysis of the middle phalanx of the 3rd toe absent epiphysis of the middle phalanx of the 4th finger absent epiphysis of the middle phalanx of the 4th toe absent epiphysis of the middle phalanx of the 5th finger absent epiphysis of the middle phalanx of the 5th toe absent epiphysis of the proximal phalanx of the 2nd finger absent epiphysis of the proximal phalanx of the 2nd toe absent epiphysis of the proximal phalanx of the 3rd finger absent epiphysis of the proximal phalanx of the 3rd toe absent epiphysis of the proximal phalanx of the 4th finger absent epiphysis of the proximal phalanx of the 4th toe absent epiphysis of the proximal phalanx of the 5th finger absent epiphysis of the proximal phalanx of the 5th toe absent ossification / absent epiphysis of terminal index finger phalanx absent rod - and cone - mediate response on erg absent rod - and cone - mediated responses on erg absent tsh response to thyrotrophin - release hormone stimulation test absent tsh response to thyrotrophin - releasing hormone stimulation test accentuation of the pulmonic component of the second heart sound anomalous insertion of papillary muscle directly into anterior mitral leaflet anomalous origin of left coronary artery from the pulmonary artery anomalous origin of right coronary artery from the pulmonary artery anterior predominant pachygyria with 5 - 10 mm cortical thickness anti - anti - muscle - specific tyrosine kinase antibody anti - bactericidal / permeability - increase protein antibody positivity anti - bactericidal / permeability - increasing protein antibody positivity anti - contactin - associate protein - like 2 antibody anti - contactin - associated protein - like 2 antibody anti - dipeptidyl - peptidase - like protein 6 antibody anti - dopamine - 2 receptor ( d2r ) antibody anti - dopamine - 2 receptors ( d2r ) antibody anti - epidermal transglutaminase ( anti - etg ) antibody anti - gamma amino butyric acid type a receptor antibody anti - gamma amino butyric acid type a receptors antibody anti - granulocyte - macrophage colony stimulate factor antibody positivity anti - granulocyte - macrophage colony stimulating factor antibody positivity anti - immunoglobulin - like cell adhesion molecule 5 antibody anti - inositol 1,4,5 - trisphosphate receptor type 1 antibody anti - rna - polymerase - iii - autoantibody positivity anti - sj / inositol 1,4,5 - trisphosphate receptor antibody aplasia / hypoplasia affect the anterior segment of the eye aplasia / hypoplasia affecting the anterior segment of the eye aplasia / hypoplasia involve the musculature of the upper arm aplasia / hypoplasia involve the musculature of the upper limb aplasia / hypoplasia involving the musculature of the upper arm aplasia / hypoplasia involving the musculature of the upper limbs aplasia / hypoplasia of the distal phalanges of the hand aplasia / hypoplasia of the distal phalanges of the toes aplasia / hypoplasia of the distal phalanx of the hallux aplasia / hypoplasia of the distal phalanx of the hand aplasia / hypoplasia of the distal phalanx of the thumb aplasia / hypoplasia of the distal phalanx of the toe aplasia / hypoplasia of the middle phalanges of the hand aplasia / hypoplasia of the middle phalanges of the toes aplasia / hypoplasia of the middle phalanx of the hand aplasia / hypoplasia of the middle phalanx of the toe aplasia / hypoplasia of the phalanges of the 2nd finger aplasia / hypoplasia of the phalanges of the 2nd toe aplasia / hypoplasia of the phalanges of the 3rd finger aplasia / hypoplasia of the phalanges of the 3rd toe aplasia / hypoplasia of the phalanges of the 4th finger aplasia / hypoplasia of the phalanges of the 4th toe aplasia / hypoplasia of the phalanges of the 5th finger aplasia / hypoplasia of the phalanges of the 5th toe aplasia / hypoplasia of the phalanx of the 2nd finger aplasia / hypoplasia of the phalanx of the 2nd toe aplasia / hypoplasia of the phalanx of the 3rd finger aplasia / hypoplasia of the phalanx of the 3rd toe aplasia / hypoplasia of the phalanx of the 4th finger aplasia / hypoplasia of the phalanx of the 4th toe aplasia / hypoplasia of the phalanx of the 5th finger aplasia / hypoplasia of the phalanx of the 5th toe aplasia / hypoplasia of the proximal phalanges of the hand aplasia / hypoplasia of the proximal phalanges of the toes aplasia / hypoplasia of the proximal phalanx of the hallux aplasia / hypoplasia of the proximal phalanx of the hand aplasia / hypoplasia of the proximal phalanx of the thumb aplasia / hypoplasia of the proximal phalanx of the toe behavioral arrest seizure with impairment of awareness irrespective of onset behavioural arrest seizure with impairment of awareness irrespective of onset beta - galactosidase deficiency in fibroblast and white blood cell beta - galactosidase deficiency in fibroblasts and white blood cells bilateral blockage of the rear opening of the nasal cavity bilateral obstruction of the rear opening of the nasal cavity birth defect in which part of esophagus did not develop birth defect in which part of esophagus do not develop birth defect in which part of oesophagus did not develop birth defect in which part of oesophagus do not develop bone - in - a - bone appearance of forearm bone distal epiphysis of distal phalanx of manual digit 1 bone proximal epiphysis of middle phalanx of manual digit 3 bracket epiphysis of the distal phalanx of the 2nd finger bracket epiphysis of the distal phalanx of the 2nd toe bracket epiphysis of the distal phalanx of the 3rd finger bracket epiphysis of the distal phalanx of the 3rd toe bracket epiphysis of the distal phalanx of the 4th finger bracket epiphysis of the distal phalanx of the 4th toe bracket epiphysis of the distal phalanx of the 5th finger bracket epiphysis of the distal phalanx of the 5th toe bracket epiphysis of the middle phalanx of the 2nd finger bracket epiphysis of the middle phalanx of the 2nd toe bracket epiphysis of the middle phalanx of the 3rd finger bracket epiphysis of the middle phalanx of the 3rd toe bracket epiphysis of the middle phalanx of the 4th finger bracket epiphysis of the middle phalanx of the 4th toe bracket epiphysis of the middle phalanx of the 5th finger bracket epiphysis of the middle phalanx of the 5th toe bracket epiphysis of the proximal phalanx of the 2nd finger bracket epiphysis of the proximal phalanx of the 2nd toe bracket epiphysis of the proximal phalanx of the 3rd finger bracket epiphysis of the proximal phalanx of the 3rd toe bracket epiphysis of the proximal phalanx of the 4th finger bracket epiphysis of the proximal phalanx of the 4th toe bracket epiphysis of the proximal phalanx of the 5th finger bracket epiphysis of the proximal phalanx of the 5th toe bracket shape end part of 1st long bone of foot bracket shape end part of 1st long bone of hand bracket shape end part of the outermost little finger bone bracket shape end part of the outermost pinkie finger bone bracket shape end part of the outermost pinky finger bone bracket shaped end part of 1st long bone of foot bracket shaped end part of 1st long bone of hand bracket shaped end part of the outermost little finger bone bracket shaped end part of the outermost pinkie finger bone bracket shaped end part of the outermost pinky finger bone breakdown of light - sensitive cell in back of eye breakdown of light - sensitive cells in back of eye combine cystic and ground - glass pattern on pulmonary hrct combined cystic and ground - glass pattern on pulmonary hrct complete duplication of the distal phalanx of the 2nd finger complete duplication of the distal phalanx of the 2nd toe complete duplication of the distal phalanx of the 3rd finger complete duplication of the distal phalanx of the 3rd toe complete duplication of the distal phalanx of the 4th finger complete duplication of the distal phalanx of the 4th toe complete duplication of the distal phalanx of the 5th finger complete duplication of the distal phalanx of the 5th toe complete duplication of the distal phalanx of the fifth toe complete duplication of the distal phalanx of the fourth toe complete duplication of the distal phalanx of the third toe complete duplication of the innermost bone of the 3rd finger complete duplication of the innermost bone of the little toe complete duplication of the innermost bone of the pinkie toe complete duplication of the innermost bone of the pinky toe complete duplication of the middle bone of the 2nd toe complete duplication of the middle bone of the 3rd toe complete duplication of the middle bone of the 4th toe complete duplication of the middle bone of the index finger complete duplication of the middle bone of the little toe complete duplication of the middle bone of the middle finger complete duplication of the middle bone of the pinkie toe complete duplication of the middle bone of the pinky toe complete duplication of the middle bone of the ring finger complete duplication of the middle phalanx of the 2nd finger complete duplication of the middle phalanx of the 2nd toe complete duplication of the middle phalanx of the 3rd finger complete duplication of the middle phalanx of the 3rd toe complete duplication of the middle phalanx of the 4th finger complete duplication of the middle phalanx of the 4th toe complete duplication of the middle phalanx of the 5th finger complete duplication of the middle phalanx of the 5th toe complete duplication of the middle phalanx of the fifth toe complete duplication of the middle phalanx of the fourth toe complete duplication of the middle phalanx of the third toe complete duplication of the outermost bone of the 2nd toe complete duplication of the outermost bone of the 3rd finger complete duplication of the outermost bone of the 3rd toe complete duplication of the outermost bone of the 4th toe complete duplication of the outermost bone of the big toe complete duplication of the outermost bone of the index finger complete duplication of the outermost bone of the little toe complete duplication of the outermost bone of the pinkie toe complete duplication of the outermost bone of the pinky toe complete duplication of the outermost bone of the ring finger complete duplication of the proximal bone of the index finger complete duplication of the proximal bone of the ring finger complete duplication of the proximal phalanx of the 2nd finger complete duplication of the proximal phalanx of the 2nd toe complete duplication of the proximal phalanx of the 3rd finger complete duplication of the proximal phalanx of the 3rd toe complete duplication of the proximal phalanx of the 4th finger complete duplication of the proximal phalanx of the 4th toe complete duplication of the proximal phalanx of the 5th finger complete duplication of the proximal phalanx of the 5th toe complete duplication of the proximal phalanx of the fifth toe complete duplication of the proximal phalanx of the second toe cone - shaped end part of the 2nd toe bone cone - shaped end part of the 3rd toe bone cone - shaped end part of the 4th toe bone cone - shaped end part of the big toe bone cone - shaped end part of the innermost hand bone cone - shaped end part of the innermost hand bones cone - shaped end part of the little finger bone cone - shaped end part of the little finger bones cone - shaped end part of the little toe bone cone - shaped end part of the middle hand bone cone - shaped end part of the middle hand bones cone - shaped end part of the outermost hand bone cone - shaped end part of the outermost hand bones cone - shaped end part of the pinkie finger bone cone - shaped end part of the pinkie finger bones cone - shaped end part of the pinkie toe bone cone - shaped end part of the pinky finger bone cone - shaped end part of the pinky finger bones cone - shaped end part of the pinky toe bone cone - shaped end part of the ring finger bone cone - shaped end part of the ring finger bones cone - shaped end part of thumb innermost long bone cone - shaped end part of thumb outermost long bone cone - shaped epiphyses of middle phalanx of index finger cone - shaped epiphyses of the phalanges of the hand cone - shaped epiphysis of middle phalanx of index finger cone - shaped epiphysis of the phalanx of the hand congenital partial albinism on face , trunk , or limb congenital partial albinism on face , trunk , or limbs contracture of proximal interphalangeal joint of 2nd - 5th finger contracture of proximal interphalangeal joints of 2nd - 5th fingers contracture of the distal interphalangeal joint of the 2nd finger contracture of the distal interphalangeal joint of the 2nd toe contracture of the distal interphalangeal joint of the 3rd finger contracture of the distal interphalangeal joint of the 3rd toe contracture of the distal interphalangeal joint of the 4th finger contracture of the distal interphalangeal joint of the 4th toe contracture of the distal interphalangeal joint of the 5th finger contracture of the distal interphalangeal joint of the 5th toe contracture of the distal interphalangeal joint of the second toe contracture of the innermost hinge joint of the 4th toe contracture of the outermost hinge joint of the 3rd finger contracture of the outermost hinge joint of the 5th toe contracture of the proximal interphalangeal joint of the 2nd finger contracture of the proximal interphalangeal joint of the 2nd toe contracture of the proximal interphalangeal joint of the 3rd finger contracture of the proximal interphalangeal joint of the 3rd toe contracture of the proximal interphalangeal joint of the 4th finger contracture of the proximal interphalangeal joint of the 4th toe contracture of the proximal interphalangeal joint of the 5th finger contracture of the proximal interphalangeal joint of the 5th toe contractures of the distal interphalangeal joint of the 5th toe contractures of the proximal interphalangeal joint of the 5th toe criss - cross atrioventricular valve with superior - inferior ventricle criss - cross atrioventricular valves with superior - inferior ventricles damage to outer layer of the cornea of the eye death of digestive organ tissue due to poor blood supply decrease glucose - 6 - phosphate dehydrogenase level in blood decrease glucose - 6 - phosphate dehydrogenase level in db decrease glucose - 6 - phosphate dehydrogenase level in leukocyte decrease glucose - 6 - phosphate dehydrogenase level in tissue decrease gonadotropin - stimulate testosterone - to - androstenedione ratio decrease high - mannose n - glycans on glycoprotein concentration decrease post - bronchodilator force expiratory volume in one second decrease post bronchodilator force expiratory flow 25 - 75 % decrease pre bronchodilator force expiratory flow 25 - 75 % decrease specific antibody response to protein - conjugate polysaccharide vaccine decrease tubular maximum for phosphate reabsorption per glomerular filtration rate decrease udp - glucose 4 - epimerase level in plasma decrease udp - glucose 4 - epimerase level in rbc decrease urinary lysyl - pyridinoline - hydroxylysyl - pyridinoline ratio decreased glucose - 6 - phosphate dehydrogenase level in blood decreased glucose - 6 - phosphate dehydrogenase level in dbs decreased glucose - 6 - phosphate dehydrogenase level in leukocytes decreased glucose - 6 - phosphate dehydrogenase level in tissue decreased gonadotropin - stimulated testosterone - to - androstenedione ratio decreased high - mannose n - glycans on glycoprotein concentration decreased post - bronchodilator forced expiratory volume in one second decreased post bronchodilator forced expiratory flow 25 - 75 % decreased pre bronchodilator forced expiratory flow 25 - 75 % decreased proportion of cd4 - positive effector memory t cell decreased proportion of cd4 - positive effector memory t cells decreased proportion of immature gamma - delta t - cell decreased proportion of immature gamma - delta t - cells decreased proportion of immature gamma - delta t - lymphocyte decreased proportion of immature gamma - delta t - lymphocytes decreased specific antibody response to protein - conjugated polysaccharide vaccine decreased tubular maximum for phosphate reabsorption per glomerular filtration rate decreased udp - glucose 4 - epimerase level in plasma decreased udp - glucose 4 - epimerase level in rbcs decreased urinary lysyl - pyridinoline - hydroxylysyl - pyridinoline ratio deficiency or absence of cytochrome b ( - 245 ) deficient excision of uv - induced pyrimidine dimer in dna deficient excision of uv - induced pyrimidine dimers in dna delay maturation of the end part of the elbow bone delay maturation of the end part of the vertebral bone delayed maturation of the end part of the elbow bone delayed maturation of the end part of the vertebral bone development of small head that be not present at birth development of small head that was not present at birth deviation of the hand or of finger of the hand deviation of the hand or of fingers of the hand disproportionate short - trunk short stature , identifiable in childhood double outlet right ventricle , doubly commit ventricular septal defect double outlet right ventricle , doubly committed ventricular septal defect elevate csf chitinase - 3 - like protein 1 level elevate imprint of posterior skull bone over the transverse sinus elevate level of neutrophil in broncho - alveolar lavage fluid elevate serum level of free thyroid hormone with nonsuppressed tsh elevated csf chitinase - 3 - like protein 1 level elevated imprint of posterior skull bones over the transverse sinuses elevated level of neutrophils in broncho - alveolar lavage fluid elevated serum levels of free thyroid hormone with nonsuppressed tsh emg : decremental response of cmap to repetitive nerve stimulation endocapillary hypercellularity within interlobular arterial endothelium consisting of foam cell endocapillary hypercellularity within interlobular arterial endothelium consisting of foam cells enlarged end part of innermost long bone of index finger enlarged end part of the 1st long bone of foot enlarged end part of the 1st long bone of hand enlarged end part of the innermost bone of little finger enlarged end part of the innermost bone of pinkie finger enlarged end part of the innermost bone of pinky finger enlarged end part of the outermost bone of little finger enlarged end part of the outermost bone of pinkie finger enlarged end part of the outermost bone of pinky finger enlarged epiphysis of the distal phalanx of the 2nd finger enlarged epiphysis of the distal phalanx of the 2nd toe enlarged epiphysis of the distal phalanx of the 3rd finger enlarged epiphysis of the distal phalanx of the 3rd toe enlarged epiphysis of the distal phalanx of the 4th finger enlarged epiphysis of the distal phalanx of the 4th toe enlarged epiphysis of the distal phalanx of the 5th finger enlarged epiphysis of the distal phalanx of the 5th toe enlarged epiphysis of the middle phalanx of the 2nd finger enlarged epiphysis of the middle phalanx of the 2nd toe enlarged epiphysis of the middle phalanx of the 3rd finger enlarged epiphysis of the middle phalanx of the 3rd toe enlarged epiphysis of the middle phalanx of the 4th finger enlarged epiphysis of the middle phalanx of the 4th toe enlarged epiphysis of the middle phalanx of the 5th finger enlarged epiphysis of the middle phalanx of the 5th toe enlarged epiphysis of the proximal phalanx of the 2nd finger enlarged epiphysis of the proximal phalanx of the 2nd toe enlarged epiphysis of the proximal phalanx of the 3rd finger enlarged epiphysis of the proximal phalanx of the 3rd toe enlarged epiphysis of the proximal phalanx of the 4th finger enlarged epiphysis of the proximal phalanx of the 4th toe enlarged epiphysis of the proximal phalanx of the 5th finger enlarged epiphysis of the proximal phalanx of the 5th toe epiphyseal abnormality of the proximal phalanx of the 2nd finger extra bone on end of second long bone of hand feet or buttocks of fetus positioned near opening of uterus feet or buttocks of foetus positioned near opening of uterus female external genitalia in individual with 46 , xy karyotype flatten , square - off end part of tubular bone flattened , squared - off end part of tubular bones focal - onset seizure evolve into bilateral convulsive status epilepticus focal - onset seizure evolve into generalise convulsive status epilepticus focal - onset seizure evolve into generalize convulsive status epilepticus focal - onset seizure evolving into bilateral convulsive status epilepticus focal - onset seizure evolving into generalised convulsive status epilepticus focal - onset seizure evolving into generalized convulsive status epilepticus focal autonomic seizure with hypoventilation / hyperventilation / alter respiration focal autonomic seizure with hypoventilation / hyperventilation / altered respiration focal aware autonomic seizure with urge to urinate / defecate focal aware cognitive seizure with deja vu / jamais vu focal aware emotional seizure with fear / anxiety / panic focal impair awareness autonomic seizure with pupillary dilation / constriction focal impair awareness cognitive seizure with conduction dysphasia / aphasia focal impair awareness cognitive seizure with expressive dysphasia / aphasia focal impair awareness cognitive seizure with left - right confusion focal impair awareness cognitive seizure with receptive dysphasia / aphasia focal impair awareness sensory seizure with hot - cold sensation focal impaired awareness autonomic seizure with pupillary dilation / constriction focal impaired awareness cognitive seizure with conduction dysphasia / aphasia focal impaired awareness cognitive seizure with expressive dysphasia / aphasia focal impaired awareness cognitive seizure with left - right confusion focal impaired awareness cognitive seizure with receptive dysphasia / aphasia focal impaired awareness sensory seizure with hot - cold sensations focal non - convulsive status epilepticus with impairment of awareness focal non - convulsive status epilepticus with impairment of consciousness focal non - convulsive status epilepticus without impairment of awareness focal non - convulsive status epilepticus without impairment of consciousness foot or buttock of fetus position near opening of uterus foot or buttock of foetus position near opening of uterus formation of new noncancerous bone on top of exist bone formation of new noncancerous bone on top of existing bone fracture distal epiphysis of distal phalanx of manual digit 1 fracture proximal epiphysis of middle phalanx of manual digit 3 fractured distal epiphysis of distal phalanx of manual digit 1 fractured proximal epiphysis of middle phalanx of manual digit 3 fragmentation of end part of the long bone of hand fragmentation of the end part of the 2nd toe bone fragmentation of the end part of the 3rd toe bone fragmentation of the end part of the 4th toe bone fragmentation of the end part of the big toe bone fragmentation of the end part of the innermost hand bone fragmentation of the end part of the innermost hand bones fragmentation of the end part of the little finger bone fragmentation of the end part of the little finger bones fragmentation of the end part of the little toe bone fragmentation of the end part of the middle hand bone fragmentation of the end part of the middle hand bones fragmentation of the end part of the outermost hand bone fragmentation of the end part of the outermost hand bones fragmentation of the end part of the pinkie finger bone fragmentation of the end part of the pinkie finger bones fragmentation of the end part of the pinkie toe bone fragmentation of the end part of the pinky finger bone fragmentation of the end part of the pinky finger bones fragmentation of the end part of the pinky toe bone fragmentation of the end part of the ring finger bone fragmentation of the end part of the ring finger bones fragmentation of the epiphyses of the phalanges of the hand fragmentation of the epiphysis of the phalanx of the hand fusion of shoulder blade to long bone in upper arm generalise muscle weakness due to defect at the neuromuscular junction generalised muscle weakness due to defect at the neuromuscular junction generalize muscle weakness due to defect at the neuromuscular junction generalized muscle weakness due to defect at the neuromuscular junction hardening of wide portion of long bone of upper arm high n / c ratio of renal tubular epithelial cell high n / c ratio of renal tubular epithelial cells increase anti - plant base food allergen ige antibody level increase bone density in innermost bone of the middle finger increase bone density in the 1st long bone of foot increase bone density in the innermost bone of the thumb increase bone density in the outermost bone of the thumb increase bone density in the outermost bone of the toe increase bone density of end part of the 2nd toe increase bone density of end part of the hand bone increase bone density of end part of the little finger increase bone density of end part of the pinkie finger increase bone density of end part of the pinky finger increase glucose - 6 - phosphate dehydrogenase level in blood increase glucose - 6 - phosphate dehydrogenase level in db increase glucose - 6 - phosphate dehydrogenase level in leukocyte increase glucose - 6 - phosphate dehydrogenase level in tissue increase high - mannose n - glycans on glycoprotein concentration increase level of propane - 1,2 - diol in blood increase lh response to gonadotropin - release hormone stimulation test increase ossification of the internal surface of the cranial bone increase ossification of the internal surface of the frontal bone increase plasma level of very long - chain fatty acid increase proportion autoreactive unresponsive cd21 - / low b cell increase proportion of cd4 - positive effector memory t cell increase proportion of immature gamma - delta t - cell increase proportion of immature gamma - delta t - lymphocyte increase udp - glucose 4 - epimerase level in plasma increase udp - glucose 4 - epimerase level in rbc increase urinary 8 - oxo - 7,8 - dihydroguanosine level increase urinary type 1 collagen n - terminal telopeptide level increased anti - plant based food allergen ige antibody level increased bone density in innermost bone of the middle finger increased bone density in the 1st long bone of foot increased bone density in the innermost bone of the thumb increased bone density in the outermost bone of the thumb increased bone density in the outermost bone of the toes increased bone density of end part of the 2nd toe increased bone density of end part of the hand bones increased bone density of end part of the little finger increased bone density of end part of the pinkie finger increased bone density of end part of the pinky finger increased glucose - 6 - phosphate dehydrogenase level in blood increased glucose - 6 - phosphate dehydrogenase level in dbs increased glucose - 6 - phosphate dehydrogenase level in leukocytes increased glucose - 6 - phosphate dehydrogenase level in tissue increased high - mannose n - glycans on glycoprotein concentration increased level of propane - 1,2 - diol in blood increased lh response to gonadotropin - releasing hormone stimulation test increased ossification of the internal surface of the cranial bones increased ossification of the internal surface of the frontal bone increased plasma levels of very long - chain fatty acid increased proportion autoreactive unresponsive cd21 - / low b cells increased proportion of cd4 - positive effector memory t cells increased proportion of immature gamma - delta t - cells increased proportion of immature gamma - delta t - lymphocytes increased udp - glucose 4 - epimerase level in plasma increased udp - glucose 4 - epimerase level in rbcs increased urinary 8 - oxo - 7,8 - dihydroguanosine level increased urinary type 1 collagen n - terminal telopeptide level increased vertical cup - to - disc ratio - 0.6 increased vertical cup - to - disc ratio - 0.7 increased vertical cup - to - disc ratio - 0.8 increased vertical cup - to - disc ratio - 0.9 increased vertical cup - to - disc ratio - 1.0 irregular end part of innermost long bone of index finger irregular end part of the 1st long bone of foot irregular end part of the 1st long bone of hand irregular end part of the outermost bone of little finger irregular end part of the outermost bone of pinkie finger irregular end part of the outermost bone of pinky finger irregular epiphysis of the distal phalanx of the 2nd finger irregular epiphysis of the distal phalanx of the 2nd toe irregular epiphysis of the distal phalanx of the 3rd finger irregular epiphysis of the distal phalanx of the 3rd toe irregular epiphysis of the distal phalanx of the 4th finger irregular epiphysis of the distal phalanx of the 4th toe irregular epiphysis of the distal phalanx of the 5th finger irregular epiphysis of the distal phalanx of the 5th toe irregular epiphysis of the middle phalanx of the 2nd finger irregular epiphysis of the middle phalanx of the 2nd toe irregular epiphysis of the middle phalanx of the 3rd finger irregular epiphysis of the middle phalanx of the 3rd toe irregular epiphysis of the middle phalanx of the 4th finger irregular epiphysis of the middle phalanx of the 4th toe irregular epiphysis of the middle phalanx of the 5th finger irregular epiphysis of the middle phalanx of the 5th toe irregular epiphysis of the proximal phalanx of the 2nd finger irregular epiphysis of the proximal phalanx of the 2nd toe irregular epiphysis of the proximal phalanx of the 3rd finger irregular epiphysis of the proximal phalanx of the 3rd toe irregular epiphysis of the proximal phalanx of the 4th finger irregular epiphysis of the proximal phalanx of the 4th toe irregular epiphysis of the proximal phalanx of the 5th finger irregular epiphysis of the proximal phalanx of the 5th toe isoelectric focusing of serum transferrin consistent with cdg type i isoelectric focusing of serum transferrin consistent with cdg type ii ivory epiphysis of the distal phalanx of the 2nd finger ivory epiphysis of the distal phalanx of the 2nd toe ivory epiphysis of the distal phalanx of the 3rd finger ivory epiphysis of the distal phalanx of the 3rd toe ivory epiphysis of the distal phalanx of the 4th finger ivory epiphysis of the distal phalanx of the 4th toe ivory epiphysis of the distal phalanx of the 5th finger ivory epiphysis of the distal phalanx of the 5th toe ivory epiphysis of the distal phalanx of the little finger ivory epiphysis of the middle phalanx of the 2nd finger ivory epiphysis of the middle phalanx of the 2nd toe ivory epiphysis of the middle phalanx of the 3rd finger ivory epiphysis of the middle phalanx of the 3rd toe ivory epiphysis of the middle phalanx of the 4th finger ivory epiphysis of the middle phalanx of the 4th toe ivory epiphysis of the middle phalanx of the 5th finger ivory epiphysis of the middle phalanx of the 5th toe ivory epiphysis of the proximal phalanx of the 2nd finger ivory epiphysis of the proximal phalanx of the 2nd toe ivory epiphysis of the proximal phalanx of the 3rd finger ivory epiphysis of the proximal phalanx of the 3rd toe ivory epiphysis of the proximal phalanx of the 4th finger ivory epiphysis of the proximal phalanx of the 4th toe ivory epiphysis of the proximal phalanx of the 5th finger ivory epiphysis of the proximal phalanx of the 5th toe ivory epiphysis of the proximal phalanx of the little finger ivory epiphysis of the terminal phalanx of the little finger large cafe - au - lait macule with irregular margin large cafe - au - lait macules with irregular margins leave superior vena cava drain directly to the left atrium left superior vena cava draining directly to the left atrium loss of fat tissue below the skin from upper limb loss of fat tissue below the skin from upper limbs more than five finger or toe on hand or foot more than five fingers or toes on hands or feet multilamellation ( onion skin ) within arteriolar intima / medium multilamellation ( onion skinning ) within arteriolar intima / media normal density transverse band in metaphyses of the upper limb normal density transverse bands in metaphyses of the upper limbs osteolytic defect of the distal phalanx of the 2nd finger osteolytic defect of the distal phalanx of the 2nd toe osteolytic defect of the distal phalanx of the 3rd finger osteolytic defect of the distal phalanx of the 3rd toe osteolytic defect of the distal phalanx of the 4th finger osteolytic defect of the distal phalanx of the 4th toe osteolytic defect of the distal phalanx of the 5th finger osteolytic defect of the distal phalanx of the 5th toe osteolytic defect of the middle phalanx of the 2nd finger osteolytic defect of the middle phalanx of the 2nd toe osteolytic defect of the middle phalanx of the 3rd finger osteolytic defect of the middle phalanx of the 3rd toe osteolytic defect of the middle phalanx of the 4th finger osteolytic defect of the middle phalanx of the 4th toe osteolytic defect of the middle phalanx of the 5th finger osteolytic defect of the middle phalanx of the 5th toe osteolytic defect of the outermost bone of the 2nd finger osteolytic defect of the outermost bone of the 3rd toe osteolytic defect of the outermost bone of the 4th toe osteolytic defect of the outermost bone of the 5th toe osteolytic defect of the outermost finger bone of the hand osteolytic defect of the proximal phalanx of the 2nd finger osteolytic defect of the proximal phalanx of the 2nd toe osteolytic defect of the proximal phalanx of the 3rd finger osteolytic defect of the proximal phalanx of the 3rd toe osteolytic defect of the proximal phalanx of the 4th finger osteolytic defect of the proximal phalanx of the 4th toe osteolytic defect of the proximal phalanx of the 5th finger osteolytic defect of the proximal phalanx of the 5th toe osteolytic defects of the distal phalanx of the 2nd finger osteolytic defects of the distal phalanx of the 2nd toe osteolytic defects of the distal phalanx of the 3rd finger osteolytic defects of the distal phalanx of the 3rd toe osteolytic defects of the distal phalanx of the 4th finger osteolytic defects of the distal phalanx of the 4th toe osteolytic defects of the distal phalanx of the 5th finger osteolytic defects of the distal phalanx of the 5th toe osteolytic defects of the middle phalanx of the 2nd finger osteolytic defects of the middle phalanx of the 2nd toe osteolytic defects of the middle phalanx of the 3rd finger osteolytic defects of the middle phalanx of the 3rd toe osteolytic defects of the middle phalanx of the 4th finger osteolytic defects of the middle phalanx of the 4th toe osteolytic defects of the middle phalanx of the 5th finger osteolytic defects of the middle phalanx of the 5th toe osteolytic defects of the outermost bone of the 2nd finger osteolytic defects of the outermost bone of the 3rd toe osteolytic defects of the outermost bone of the 4th toe osteolytic defects of the outermost bone of the 5th toe osteolytic defects of the outermost finger bone of the hand osteolytic defects of the proximal phalanx of the 2nd finger osteolytic defects of the proximal phalanx of the 2nd toe osteolytic defects of the proximal phalanx of the 3rd finger osteolytic defects of the proximal phalanx of the 3rd toe osteolytic defects of the proximal phalanx of the 4th finger osteolytic defects of the proximal phalanx of the 4th toe osteolytic defects of the proximal phalanx of the 5th finger osteolytic defects of the proximal phalanx of the 5th toe partial / complete duplication of phalanges of the 2nd finger partial / complete duplication of phalanges of the 3rd finger partial / complete duplication of phalanges of the 4th finger partial / complete duplication of phalanges of the 5th finger partial / complete duplication of phalanx of the 2nd finger partial / complete duplication of phalanx of the 3rd finger partial / complete duplication of phalanx of the 4th finger partial / complete duplication of phalanx of the 5th finger partial / complete duplication of the phalanges of the hallux partial / complete duplication of the phalanges of the toes partial / complete duplication of the phalanx of the hallux partial / complete duplication of the phalanx of the toe partial absence of specific antibody response to hepatitis b vaccine partial absence of specific antibody response to unconjugated pneumococcus vaccine partial duplication of the distal phalanx of the 2nd finger partial duplication of the distal phalanx of the 2nd toe partial duplication of the distal phalanx of the 3rd finger partial duplication of the distal phalanx of the 3rd toe partial duplication of the distal phalanx of the 4th finger partial duplication of the distal phalanx of the 4th toe partial duplication of the distal phalanx of the 5th finger partial duplication of the distal phalanx of the 5th toe partial duplication of the distal phalanx of the fifth toe partial duplication of the distal phalanx of the fourth toe partial duplication of the distal phalanx of the third toe partial duplication of the innermost bone of the little toe partial duplication of the innermost bone of the pinkie toe partial duplication of the innermost bone of the pinky toe partial duplication of the innermost bone of the ring finger partial duplication of the middle bone of the 2nd toe partial duplication of the middle bone of the 3rd finger partial duplication of the middle bone of the 4th toe partial duplication of the middle bone of the index finger partial duplication of the middle bone of the little toe partial duplication of the middle bone of the pinkie toe partial duplication of the middle bone of the pinky toe partial duplication of the middle bone of the ring finger partial duplication of the middle phalanx of the 2nd finger partial duplication of the middle phalanx of the 2nd toe partial duplication of the middle phalanx of the 3rd finger partial duplication of the middle phalanx of the 3rd toe partial duplication of the middle phalanx of the 4th finger partial duplication of the middle phalanx of the 4th toe partial duplication of the middle phalanx of the 5th finger partial duplication of the middle phalanx of the 5th toe partial duplication of the middle phalanx of the fifth toe partial duplication of the middle phalanx of the fourth toe partial duplication of the middle phalanx of the third toe partial duplication of the outermost bone of the 2nd finger partial duplication of the outermost bone of the 2nd toe partial duplication of the outermost bone of the 3rd toe partial duplication of the outermost bone of the fifth toe partial duplication of the outermost bone of the fourth toe partial duplication of the outermost bone of the little toe partial duplication of the outermost bone of the middle finger partial duplication of the outermost bone of the pinkie toe partial duplication of the outermost bone of the pinky toe partial duplication of the outermost bone of the ring finger partial duplication of the proximal bone of the index finger partial duplication of the proximal bone of the middle finger partial duplication of the proximal bones of the index finger partial duplication of the proximal phalanx of the 2nd finger partial duplication of the proximal phalanx of the 2nd toe partial duplication of the proximal phalanx of the 3rd finger partial duplication of the proximal phalanx of the 3rd toe partial duplication of the proximal phalanx of the 4th finger partial duplication of the proximal phalanx of the 4th toe partial duplication of the proximal phalanx of the 5th finger partial duplication of the proximal phalanx of the 5th toe partial duplication of the proximal phalanx of the fifth toe partial duplication of the proximal phalanx of the second toe partial duplication of the proximal phalanx of the third toe passive dorsiflexion of the 5th finger more than 90 degree passive dorsiflexion of the 5th finger more than 90 degrees patchy sclerosis of the distal phalanx of the 2nd finger patchy sclerosis of the distal phalanx of the 2nd toe patchy sclerosis of the distal phalanx of the 3rd finger patchy sclerosis of the distal phalanx of the 3rd toe patchy sclerosis of the distal phalanx of the 4th finger patchy sclerosis of the distal phalanx of the 4th toe patchy sclerosis of the distal phalanx of the 5th finger patchy sclerosis of the distal phalanx of the 5th toe patchy sclerosis of the middle phalanx of the 2nd finger patchy sclerosis of the middle phalanx of the 2nd toe patchy sclerosis of the middle phalanx of the 3rd finger patchy sclerosis of the middle phalanx of the 3rd toe patchy sclerosis of the middle phalanx of the 4th finger patchy sclerosis of the middle phalanx of the 4th toe patchy sclerosis of the middle phalanx of the 5th finger patchy sclerosis of the middle phalanx of the 5th toe patchy sclerosis of the proximal phalanx of the 2nd finger patchy sclerosis of the proximal phalanx of the 2nd toe patchy sclerosis of the proximal phalanx of the 3rd finger patchy sclerosis of the proximal phalanx of the 3rd toe patchy sclerosis of the proximal phalanx of the 4th finger patchy sclerosis of the proximal phalanx of the 4th toe patchy sclerosis of the proximal phalanx of the 5th finger patchy sclerosis of the proximal phalanx of the 5th toe plaque build - up in arteries supplying blood to heart plaque build - up in artery supply blood to heart proximal muscle weakness due to defect at the neuromuscular junction pulmonary arterial hypertension with positive acute response to no challenge reduce tsh response to thyrotrophin - release hormone stimulation test reduced tsh response to thyrotrophin - releasing hormone stimulation test sclerosis with transverse striation in metaphyses of the upper limb sclerosis with transverse striations in metaphyses of the upper limbs short middle and distal phalanges of digits ii through v short middle and distal phalanx of digit ii through v small end part of middle long bone of 4th toe small end part of proximal long bond of index finger small end part of the 1st long bone of foot small end part of the 1st long bone of hand small end part of the innermost bone of little finger small end part of the innermost bone of pinkie finger small end part of the innermost bone of pinky finger small end part of the outermost bone of little finger small end part of the outermost bone of pinkie finger small end part of the outermost bone of pinky finger small epiphysis of the distal phalanx of the 2nd finger small epiphysis of the distal phalanx of the 2nd toe small epiphysis of the distal phalanx of the 3rd finger small epiphysis of the distal phalanx of the 3rd toe small epiphysis of the distal phalanx of the 4th finger small epiphysis of the distal phalanx of the 4th toe small epiphysis of the distal phalanx of the 5th finger small epiphysis of the distal phalanx of the 5th toe small epiphysis of the middle phalanx of the 2nd finger small epiphysis of the middle phalanx of the 2nd toe small epiphysis of the middle phalanx of the 3rd finger small epiphysis of the middle phalanx of the 3rd toe small epiphysis of the middle phalanx of the 4th finger small epiphysis of the middle phalanx of the 4th toe small epiphysis of the middle phalanx of the 5th finger small epiphysis of the middle phalanx of the 5th toe small epiphysis of the proximal phalanx of the 2nd finger small epiphysis of the proximal phalanx of the 2nd toe small epiphysis of the proximal phalanx of the 3rd finger small epiphysis of the proximal phalanx of the 3rd toe small epiphysis of the proximal phalanx of the 4th finger small epiphysis of the proximal phalanx of the 4th toe small epiphysis of the proximal phalanx of the 5th finger small epiphysis of the proximal phalanx of the 5th toe speckle calcification in metaphysis of long bone of upper arm speckled calcification in end part of thumb innermost long bone speckled calcification in metaphysis of long bone of upper arm speckled calcifications in end part of thumb innermost long bone stiffening of wide portion of long bone of upper arm stippling of the epiphyses of the phalanges of the hand stippling of the epiphysis of the phalanx of the hand subluxation of the proximal interphalangeal joint of the little finger superior - inferior ventricle without criss - cross atrioventricular valve superior - inferior ventricles without criss - cross atrioventricular valves supernormal dark - adapted bright flash electroretinogram b - wave supraventricular tachycardia with a concealed accessory pathway on the septum supraventricular tachycardia with a manifest accessory pathway on the septum symphalangism of the distal and proximal phalanges of the thumb symphalangism of the distal and proximal phalanx of the thumb thinning and bulging of occipital bone over the transverse sinus thinning and bulging of occipital bone over the transverse sinuses triangular end part of innermost long bone of index finger triangular end part of the 1st long bone of foot triangular end part of the 1st long bone of hand triangular end part of the innermost bone of little finger triangular end part of the innermost bone of pinkie finger triangular end part of the innermost bone of pinky finger triangular end part of the innermost bone of ring finger triangular end part of the outermost bone of little finger triangular end part of the outermost bone of pinkie finger triangular end part of the outermost bone of pinky finger triangular end part of the outermost bone of ring finger triangular epiphysis of the distal phalanx of the 2nd finger triangular epiphysis of the distal phalanx of the 2nd toe triangular epiphysis of the distal phalanx of the 3rd finger triangular epiphysis of the distal phalanx of the 3rd toe triangular epiphysis of the distal phalanx of the 4th finger triangular epiphysis of the distal phalanx of the 4th toe triangular epiphysis of the distal phalanx of the 5th finger triangular epiphysis of the distal phalanx of the 5th toe triangular epiphysis of the middle phalanx of the 2nd finger triangular epiphysis of the middle phalanx of the 2nd toe triangular epiphysis of the middle phalanx of the 3rd finger triangular epiphysis of the middle phalanx of the 3rd toe triangular epiphysis of the middle phalanx of the 4th finger triangular epiphysis of the middle phalanx of the 4th toe triangular epiphysis of the middle phalanx of the 5th finger triangular epiphysis of the middle phalanx of the 5th toe triangular epiphysis of the proximal phalanx of the 2nd finger triangular epiphysis of the proximal phalanx of the 2nd toe triangular epiphysis of the proximal phalanx of the 3rd finger triangular epiphysis of the proximal phalanx of the 3rd toe triangular epiphysis of the proximal phalanx of the 4th finger triangular epiphysis of the proximal phalanx of the 4th toe triangular epiphysis of the proximal phalanx of the 5th finger triangular epiphysis of the proximal phalanx of the 5th toe uneven increase in bone density in innermost index finger bone uneven increase in bone density in the innermost thumb bone vocal impairment , severe , due to laryngeal cartilage abnormalities vocal impairment , severe , due to laryngeal cartilage abnormality abnormal brain n - acetyl aspartate level by magnetic resonance spectroscopy abnormal double - negative alpha - beta regulatory t cell distribution abnormal insulin like growth factor bind protein acid labile subunit level abnormal insulin like growth factor binding protein acid labile subunit level abnormal proportion of non - class - switched memory b cell abnormal proportion of non - class - switched memory b cells abnormal udp - glucose 4 - epimerase activity level in plasma abnormal uridine diphosphate glucose - 4 - epimerase level in plasma abnormality of end part of the innermost bone of little finger abnormality of end part of the innermost bone of pinkie finger abnormality of end part of the innermost bone of pinky finger abnormality of the end part of the outermost bone of finger abnormality of the epiphyses of the middle phalanges of the hand abnormality of the epiphyses of the proximal phalanges of the hand abnormality of the epiphysis of the distal phalanx of the hallux abnormality of the epiphysis of the distal phalanx of the thumb abnormality of the epiphysis of the middle phalanx of the hand abnormality of the epiphysis of the proximal phalanx of the hallux abnormality of the epiphysis of the proximal phalanx of the hand abnormality of the epiphysis of the proximal phalanx of the thumb abnormality of the mineralisation and ossification of bone of the foot abnormality of the mineralisation and ossification of bone of the hand abnormality of the mineralisation and ossification of bones of the feet abnormality of the mineralisation and ossification of bones of the hand abnormality of the wide portion of the low - limb bone abnormality of the wide portion of the lower - limb bone absent end part of innermost long bone of the middle finger absent end part of the innermost bone of the 2nd toe absent end part of the innermost bone of the 3rd toe absent end part of the innermost bone of the 4th toe absent end part of the innermost bone of the big toe absent end part of the innermost bone of the little toe absent end part of the innermost bone of the pinkie toe absent end part of the innermost bone of the pinky toe absent end part of the innermost bone of the ring finger absent end part of the middle bone of the 2nd toe absent end part of the middle bone of the 3rd toe absent end part of the middle bone of the 4th toe absent end part of the middle bone of the little finger absent end part of the middle bone of the little toe absent end part of the middle bone of the middle finger absent end part of the middle bone of the pinkie finger absent end part of the middle bone of the pinkie toe absent end part of the middle bone of the pinky finger absent end part of the middle bone of the pinky toe absent end part of the middle bone of the ring finger absent end part of the outermost bone of the 2nd toe absent end part of the outermost bone of the 3rd toe absent end part of the outermost bone of the 4th toe absent end part of the outermost bone of the big toe absent end part of the outermost bone of the index finger absent end part of the outermost bone of the little finger absent end part of the outermost bone of the little toe absent end part of the outermost bone of the middle finger absent end part of the outermost bone of the pinkie finger absent end part of the outermost bone of the pinkie toe absent end part of the outermost bone of the pinky finger absent end part of the outermost bone of the pinky toe absent end part of the outermost bone of the ring finger absent maturation of end part of long bone in upper arm accelerate maturation of end part of long bone in upper arm accelerated maturation of end part of long bone in upper arm anomalous origin of the right common carotid artery from the aorta anomalous origin of the right subclavian artery from the descending aorta aplasia / hypoplasia of the distal phalanx of the 2nd finger aplasia / hypoplasia of the distal phalanx of the 2nd toe aplasia / hypoplasia of the distal phalanx of the 3rd finger aplasia / hypoplasia of the distal phalanx of the 3rd toe aplasia / hypoplasia of the distal phalanx of the 4th finger aplasia / hypoplasia of the distal phalanx of the 4th toe aplasia / hypoplasia of the distal phalanx of the 5th finger aplasia / hypoplasia of the distal phalanx of the 5th toe aplasia / hypoplasia of the middle phalanx of the 2nd finger aplasia / hypoplasia of the middle phalanx of the 2nd toe aplasia / hypoplasia of the middle phalanx of the 3rd finger aplasia / hypoplasia of the middle phalanx of the 3rd toe aplasia / hypoplasia of the middle phalanx of the 4th finger aplasia / hypoplasia of the middle phalanx of the 4th toe aplasia / hypoplasia of the middle phalanx of the 5th finger aplasia / hypoplasia of the middle phalanx of the 5th toe aplasia / hypoplasia of the proximal phalanx of the 2nd finger aplasia / hypoplasia of the proximal phalanx of the 2nd toe aplasia / hypoplasia of the proximal phalanx of the 3rd finger aplasia / hypoplasia of the proximal phalanx of the 3rd toe aplasia / hypoplasia of the proximal phalanx of the 4th finger aplasia / hypoplasia of the proximal phalanx of the 4th toe aplasia / hypoplasia of the proximal phalanx of the 5th finger aplasia / hypoplasia of the proximal phalanx of the 5th toe area of hypopigmentation and hyperpigmentation that do not follow blaschko line areas of hypopigmentation and hyperpigmentation that do not follow blaschko lines bone - in - a - bone appearance of carpal bone bone - in - a - bone appearance of carpal bones bone - in - a - bone appearance of wrist bone bone - in - a - bone appearance of wrist bones bracket shape end part of innermost long bone of index finger bracket shape end part of the innermost bone of 3rd toe bracket shape end part of the innermost bone of 4th toe bracket shape end part of the innermost bone of big toe bracket shape end part of the middle bone of 3rd toe bracket shape end part of the outermost bone of big toe bracket shaped end part of innermost long bone of index finger bracket shaped end part of the innermost bone of 3rd toe bracket shaped end part of the innermost bone of 4th toe bracket shaped end part of the innermost bone of big toe bracket shaped end part of the middle bone of 3rd toe bracket shaped end part of the outermost bone of big toe cone - shaped end part of digital bone 2 to 5 cone - shaped end part of digital bones 2 to 5 cone - shaped end part of the outermost little finger bone cone - shaped end part of the outermost pinkie finger bone cone - shaped end part of the outermost pinky finger bone cone - shaped epiphyses of the distal phalanges of the hand cone - shaped epiphyses of the middle phalanges of the hand cone - shaped epiphyses of the proximal phalanges of the hand cone - shaped epiphysis of the distal phalanx of the hallux cone - shaped epiphysis of the distal phalanx of the hand cone - shaped epiphysis of the distal phalanx of the thumb cone - shaped epiphysis of the middle phalanx of the hand cone - shaped epiphysis of the proximal phalanx of the hallux cone - shaped epiphysis of the proximal phalanx of the hand cone - shaped epiphysis of the proximal phalanx of the thumb congenitally correct transposition of the great artery with ventricular septal defect congenitally corrected transposition of the great arteries with ventricular septal defect decrease post - bronchodilator force expiratory flow 25 - 75 % decrease pre - bronchodilator force expiratory flow 25 - 75 % decrease uridine diphosphate glucose - 4 - epimerase level in plasma decreased cervical spine flexion due to contracture of posterior cervical muscle decreased cervical spine flexion due to contractures of posterior cervical muscles decreased expression of gpi - anchored protein on the cell surface decreased expression of gpi - anchored proteins on the cell surface decreased growth hormone responses to growth hormone - release hormone challenge decreased growth hormone responses to growth hormone - releasing hormone challenge decreased post - bronchodilator forced expiratory flow 25 - 75 % decreased pre - bronchodilator forced expiratory flow 25 - 75 % decreased proportion of non - class - switched memory b cell decreased proportion of non - class - switched memory b cells decreased uridine diphosphate glucose - 4 - epimerase level in plasma delay maturation fo the end part of the upper limb bone delayed maturation fo the end part of the upper limb bone discrete 2 to 5 - mm hyper - and hypopigmented macule discrete 2 to 5 - mm hyper - and hypopigmented macules eeg : spike and multispike wave , 3 - 4 hz eeg : spike and multispike waves , 3 - 4 hz eeg with spike - wave complex ( < 2.5 hz ) eeg with spike - wave complex ( > 3.5 hz ) eeg with spike - wave complexes ( < 2.5 hz ) eeg with spike - wave complexes ( > 3.5 hz ) elevate brain n - acetyl aspartate level by magnetic resonance spectroscopy elevate circulate 3 - methyl - 2 - oxovaleric acid concentration elevate circulate 4 - methyl - 2 - oxopentanoic acid concentration elevate plasma 3 - oh - linoleylcarnitine , c18:1 - oh elevate plasma 3 - oh - palmitoleylcarnitine , c16:1 - oh elevate urine 3 - methyl - 2 - oxovaleric acid level elevate urine 4 - methyl - 2 - oxopentanoic acid level elevated brain n - acetyl aspartate level by magnetic resonance spectroscopy elevated circulating 3 - methyl - 2 - oxovaleric acid concentration elevated circulating 4 - methyl - 2 - oxopentanoic acid concentration elevated plasma 3 - oh - linoleylcarnitine , c18:1 - oh elevated plasma 3 - oh - palmitoleylcarnitine , c16:1 - oh elevated urine 3 - methyl - 2 - oxovaleric acid level elevated urine 4 - methyl - 2 - oxopentanoic acid level enlarged end part of innermost long bone of the middle finger enlarged end part of the innermost bone of the 2nd toe enlarged end part of the innermost bone of the 3rd toe enlarged end part of the innermost bone of the 4th toe enlarged end part of the innermost bone of the big toe enlarged end part of the innermost bone of the little toe enlarged end part of the innermost bone of the pinkie toe enlarged end part of the innermost bone of the pinky toe enlarged end part of the innermost bone of the ring finger enlarged end part of the middle bone of the 2nd toe enlarged end part of the middle bone of the 3rd toe enlarged end part of the middle bone of the 4th toe enlarged end part of the middle bone of the index finger enlarged end part of the middle bone of the little finger enlarged end part of the middle bone of the little toe enlarged end part of the middle bone of the middle finger enlarged end part of the middle bone of the pinkie finger enlarged end part of the middle bone of the pinkie toe enlarged end part of the middle bone of the pinky finger enlarged end part of the middle bone of the pinky toe enlarged end part of the middle bone of the ring finger enlarged end part of the outermost bone of the 2nd toe enlarged end part of the outermost bone of the 3rd finger enlarged end part of the outermost bone of the 3rd toe enlarged end part of the outermost bone of the 4th toe enlarged end part of the outermost bone of the big toe enlarged end part of the outermost bone of the index finger enlarged end part of the outermost bone of the little toe enlarged end part of the outermost bone of the pinkie toe enlarged end part of the outermost bone of the pinky toe enlarged end part of the outermost bone of the ring finger excessive buildup of connective tissue and scarring of liver at birth febrile seizure outside the age of 3 month to 6 year febrile seizure outside the age of 3 months to 6 years focal autonomic seizure with palpitation / tachycardia / bradycardia / asystole focal autonomic seizure with palpitations / tachycardia / bradycardia / asystole focal aware autonomic seizure with hypoventilation / hyperventilation / alter respiration focal aware autonomic seizure with hypoventilation / hyperventilation / altered respiration focal impair awareness autonomic seizure with urge to urinate / defecate focal impair awareness cognitive seizure with deja vu / jamais vu focal impair awareness emotional seizure with fear / anxiety / panic focal impaired awareness autonomic seizure with urge to urinate / defecate focal impaired awareness cognitive seizure with deja vu / jamais vu focal impaired awareness emotional seizure with fear / anxiety / panic fragmentation of end part of innermost long bone of index finger fragmentation of end part of the outermost bone of little finger fragmentation of end part of the outermost bone of pinkie finger fragmentation of end part of the outermost bone of pinky finger fragmentation of the epiphyses of the distal phalanges of the hand fragmentation of the epiphyses of the middle phalanges of the hand fragmentation of the epiphyses of the proximal phalanges of the hand fragmentation of the epiphysis of the distal phalanx of the hallux fragmentation of the epiphysis of the distal phalanx of the hand fragmentation of the epiphysis of the distal phalanx of the thumb fragmentation of the epiphysis of the middle phalanx of the hand fragmentation of the epiphysis of the proximal phalanx of the hallux fragmentation of the epiphysis of the proximal phalanx of the hand fragmentation of the epiphysis of the proximal phalanx of the thumb fusion of long bone of hand / long bone of foot fusion of long bones of hand / long bones of foot fusion of the terminal and middle phalanges of the 5th finger fusion of the terminal and middle phalanx of the 5th finger generalise tonic - clonic seizure ( without specification of onset ) generalised tonic - clonic seizure ( without specification of onset ) generalize tonic - clonic seizure ( without specification of onset ) generalized tonic - clonic seizure ( without specification of onset ) heart tip and four chamber point towards right side of body heart tip and four chambers point towards right side of body increase bone density in shaft of long bone in upper arm increase bone density in the innermost bone of the 2nd toe increase bone density in the innermost bone of the 3rd toe increase bone density in the innermost bone of the 4th toe increase bone density in the innermost bone of the big toe increase bone density in the innermost bone of the index finger increase bone density in the innermost bone of the little toe increase bone density in the innermost bone of the pinkie toe increase bone density in the innermost bone of the pinky toe increase bone density in the innermost bone of the ring finger increase bone density in the middle bone of the 2nd toe increase bone density in the middle bone of the 3rd toe increase bone density in the middle bone of the 4th toe increase bone density in the middle bone of the index finger increase bone density in the middle bone of the little finger increase bone density in the middle bone of the little toe increase bone density in the middle bone of the middle finger increase bone density in the middle bone of the pinkie finger increase bone density in the middle bone of the pinkie toe increase bone density in the middle bone of the pinky finger increase bone density in the middle bone of the pinky toe increase bone density in the middle bone of the ring finger increase bone density in the outermost bone of the 2nd toe increase bone density in the outermost bone of the 3rd toe increase bone density in the outermost bone of the 4th toe increase bone density in the outermost bone of the big toe increase bone density in the outermost bone of the index finger increase bone density in the outermost bone of the little toe increase bone density in the outermost bone of the middle finger increase bone density in the outermost bone of the pinkie toe increase bone density in the outermost bone of the pinky toe increase bone density in the outermost bone of the ring finger increase bone density in wide portion of the upper limb bone increase bone density of end part of the 3rd toe bone increase bone density of end part of the 4th toe bone increase bone density of end part of the big toe bone increase bone density of end part of the index finger bone increase bone density of end part of the innermost hand bone increase bone density of end part of the little toe bone increase bone density of end part of the middle finger bone increase bone density of end part of the middle hand bone increase bone density of end part of the outermost hand bone increase bone density of end part of the pinkie toe bone increase bone density of end part of the pinky toe bone increase bone density of end part of the ring finger bone increase circulate n - acetyl - l - aspartic acid level increase concentration of high - mannose - type oligosaccharide in urine increase level of anti - plant base food allergen ige antibody increase proportion of non - class - switched memory b cell increase uridine diphosphate glucose - 4 - epimerase level in plasma increase urinary excretion of gamma - aminobutyric acid ( gaba ) increased bone density in shaft of long bone in upper arm increased bone density in the innermost bone of the 2nd toe increased bone density in the innermost bone of the 3rd toe increased bone density in the innermost bone of the 4th toe increased bone density in the innermost bone of the big toe increased bone density in the innermost bone of the index finger increased bone density in the innermost bone of the little toe increased bone density in the innermost bone of the pinkie toe increased bone density in the innermost bone of the pinky toe increased bone density in the innermost bone of the ring finger increased bone density in the middle bone of the 2nd toe increased bone density in the middle bone of the 3rd toe increased bone density in the middle bone of the 4th toe increased bone density in the middle bone of the index finger increased bone density in the middle bone of the little finger increased bone density in the middle bone of the little toe increased bone density in the middle bone of the middle finger increased bone density in the middle bone of the pinkie finger increased bone density in the middle bone of the pinkie toe increased bone density in the middle bone of the pinky finger increased bone density in the middle bone of the pinky toe increased bone density in the middle bone of the ring finger increased bone density in the outermost bone of the 2nd toe increased bone density in the outermost bone of the 3rd toe increased bone density in the outermost bone of the 4th toe increased bone density in the outermost bone of the big toe increased bone density in the outermost bone of the index finger increased bone density in the outermost bone of the little toe increased bone density in the outermost bone of the middle finger increased bone density in the outermost bone of the pinkie toe increased bone density in the outermost bone of the pinky toe increased bone density in the outermost bone of the ring finger increased bone density in wide portion of the upper limb bones increased bone density of end part of the 3rd toe bone increased bone density of end part of the 4th toe bone increased bone density of end part of the big toe bone increased bone density of end part of the index finger bone increased bone density of end part of the innermost hand bones increased bone density of end part of the little toe bone increased bone density of end part of the middle finger bone increased bone density of end part of the middle hand bones increased bone density of end part of the outermost hand bones increased bone density of end part of the pinkie toe bone increased bone density of end part of the pinky toe bone increased bone density of end part of the ring finger bone increased circulating n - acetyl - l - aspartic acid level increased concentration of high - mannose - type oligosaccharides in urine increased level of anti - plant based food allergen ige antibody increased proportion of non - class - switched memory b cells increased uridine diphosphate glucose - 4 - epimerase level in plasma increased urinary excretion of gamma - aminobutyric acid ( gaba ) interruption of electrical communication between upper and low chamber of heart interruption of electrical communication between upper and lower chambers of heart irregular end part of innermost long bone of the middle finger irregular end part of the innermost bone of the 2nd toe irregular end part of the innermost bone of the 3rd toe irregular end part of the innermost bone of the 4th toe irregular end part of the innermost bone of the big toe irregular end part of the innermost bone of the little toe irregular end part of the innermost bone of the pinkie toe irregular end part of the innermost bone of the pinky toe irregular end part of the innermost bone of the ring finger irregular end part of the middle bone of the 2nd toe irregular end part of the middle bone of the 3rd toe irregular end part of the middle bone of the 4th toe irregular end part of the middle bone of the little finger irregular end part of the middle bone of the little toe irregular end part of the middle bone of the middle finger irregular end part of the middle bone of the pinkie finger irregular end part of the middle bone of the pinkie toe irregular end part of the middle bone of the pinky finger irregular end part of the middle bone of the pinky toe irregular end part of the middle bone of the ring finger irregular end part of the outermost bone of the 2nd toe irregular end part of the outermost bone of the 3rd toe irregular end part of the outermost bone of the 4th toe irregular end part of the outermost bone of the big toe irregular end part of the outermost bone of the index finger irregular end part of the outermost bone of the little toe irregular end part of the outermost bone of the pinkie toe irregular end part of the outermost bone of the pinky toe irregular end part of the outermost bone of the ring finger leave aortic arch with cervical origin of the right subclavian artery leave aortic arch with right descend aorta and right ductus arteriosus left aortic arch with cervical origin of the right subclavian artery left aortic arch with right descending aorta and right ductus arteriosus multilamellation ( onion skin ) within interlobular arterial intima / medium multilamellation ( onion skin ) within interlobular vein intima / medium multilamellation ( onion skin ) within renal arteriole intima / medium multilamellation ( onion skinning ) within interlobular arterial intima / media multilamellation ( onion skinning ) within interlobular vein intima / media multilamellation ( onion skinning ) within renal arteriole intima / media partial / complete duplication of the 1st long bone of hand partial / complete duplication of the distal phalanges of the hand partial / complete duplication of the distal phalanges of the toes partial / complete duplication of the distal phalanx of the hallux partial / complete duplication of the distal phalanx of the hand partial / complete duplication of the distal phalanx of the thumb partial / complete duplication of the distal phalanx of the toe partial / complete duplication of the middle bone of the toe partial / complete duplication of the middle bones of the toes partial / complete duplication of the middle phalanges of the hand partial / complete duplication of the middle phalanges of the toes partial / complete duplication of the middle phalanx of the hand partial / complete duplication of the middle phalanx of the toe partial / complete duplication of the phalanges of the 2nd toe partial / complete duplication of the phalanges of the 3rd toe partial / complete duplication of the phalanges of the 4th toe partial / complete duplication of the phalanges of the 5th toe partial / complete duplication of the phalanges of the big toe partial / complete duplication of the phalanx of the 2nd toe partial / complete duplication of the phalanx of the 3rd toe partial / complete duplication of the phalanx of the 4th toe partial / complete duplication of the phalanx of the 5th toe partial / complete duplication of the phalanx of the big toe partial / complete duplication of the proximal phalanges of the hand partial / complete duplication of the proximal phalanges of the toes partial / complete duplication of the proximal phalanx of the hand partial / complete duplication of the proximal phalanx of the thumb partial / complete duplication of the proximal phalanx of the toe pulmonary arterial hypertension with lack of acute response to no challenge radial deviation of the hand or of finger of the hand radial deviation of the hand or of fingers of the hand reduce brain n - acetyl aspartate level by magnetic resonance spectroscopy reduced brain n - acetyl aspartate level by magnetic resonance spectroscopy reduced insulin like growth factor bind protein acid labile subunit level reduced insulin like growth factor binding protein acid labile subunit level reduced volume of central subdivision of bed nucleus of stria terminalis right aortic arch with left descend aorta and leave ductus arteriosus right aortic arch with left descending aorta and left ductus arteriosus self - mutilation of tongue and lip due to involuntary movement self - mutilation of tongue and lips due to involuntary movements separate origin of the left anterior descending and leave circumflex artery separate origin of the left anterior descending and left circumflex artery short - chain 3 - hydroxyacyl - coenzyme a dehydrogenase deficiency small end part of innermost long bone of the middle finger small end part of the innermost bone of the 2nd toe small end part of the innermost bone of the 3rd toe small end part of the innermost bone of the 4th toe small end part of the innermost bone of the big toe small end part of the innermost bone of the little toe small end part of the innermost bone of the pinkie toe small end part of the innermost bone of the pinky toe small end part of the innermost bone of the ring finger small end part of the innermost long bone of index finger small end part of the middle bone of the 2nd toe small end part of the middle bone of the 3rd toe small end part of the middle bone of the little finger small end part of the middle bone of the little toe small end part of the middle bone of the middle finger small end part of the middle bone of the pinkie finger small end part of the middle bone of the pinkie toe small end part of the middle bone of the pinky finger small end part of the middle bone of the pinky toe small end part of the middle bone of the ring finger small end part of the outermost bone of the 2nd toe small end part of the outermost bone of the 3rd toe small end part of the outermost bone of the 4th toe small end part of the outermost bone of the big toe small end part of the outermost bone of the index finger small end part of the outermost bone of the little toe small end part of the outermost bone of the pinkie toe small end part of the outermost bone of the pinky toe small end part of the outermost bone of the ring finger soft tissue syndactyly of toe 2 , 3 , and 4 soft tissue syndactyly of toes 2 , 3 , and 4 speckled calcification in end part of the long bone of hand speckled calcification in the end part of the 2nd toe bone speckled calcification in the end part of the 3rd toe bone speckled calcification in the end part of the 4th toe bone speckled calcification in the end part of the big toe bone speckled calcification in the end part of the innermost hand bone speckled calcification in the end part of the little toe bone speckled calcification in the end part of the middle hand bone speckled calcification in the end part of the outermost hand bone speckled calcification in the end part of the outermost thumb bone speckled calcification in the end part of the pinkie toe bone speckled calcification in the end part of the pinky toe bone speckled calcifications in end part of the long bone of hand speckled calcifications in the end part of the 2nd toe bone speckled calcifications in the end part of the 3rd toe bone speckled calcifications in the end part of the 4th toe bone speckled calcifications in the end part of the big toe bone speckled calcifications in the end part of the innermost hand bones speckled calcifications in the end part of the little toe bone speckled calcifications in the end part of the middle hand bones speckled calcifications in the end part of the outermost hand bones speckled calcifications in the end part of the outermost thumb bone speckled calcifications in the end part of the pinkie toe bone speckled calcifications in the end part of the pinky toe bone stippling of the epiphyses of the distal phalanges of the hand stippling of the epiphyses of the middle phalanges of the hand stippling of the epiphyses of the proximal phalanges of the hand stippling of the epiphysis of the distal phalanx of the hallux stippling of the epiphysis of the distal phalanx of the hand stippling of the epiphysis of the distal phalanx of the thumb stippling of the epiphysis of the middle phalanx of the hand stippling of the epiphysis of the proximal phalanx of the hallux stippling of the epiphysis of the proximal phalanx of the hand stippling of the epiphysis of the proximal phalanx of the thumb streak increase in bone density in wide portion of wide bone symphalangism of the distal and middle phalanges of the 2nd finger symphalangism of the distal and middle phalanges of the 3rd finger symphalangism of the distal and middle phalanges of the 4th finger symphalangism of the distal and middle phalanges of the 5th finger symphalangism of the distal and middle phalanx of the 2nd finger symphalangism of the distal and middle phalanx of the 3rd finger symphalangism of the distal and middle phalanx of the 4th finger symphalangism of the distal and middle phalanx of the 5th finger symphalangism of the middle and proximal phalanges of the 2nd toe symphalangism of the middle and proximal phalanges of the 3rd toe symphalangism of the middle and proximal phalanges of the 4th toe symphalangism of the middle and proximal phalanges of the 5th toe symphalangism of the middle and proximal phalanx of the 2nd toe symphalangism of the middle and proximal phalanx of the 3rd toe symphalangism of the middle and proximal phalanx of the 4th toe symphalangism of the middle and proximal phalanx of the 5th toe symphalangism of the proximal and middle phalanges of the 5th finger symphalangism of the proximal and middle phalanx of the 5th finger symphalangism of the terminal and middle phalanges of the 5th finger symphalangism of the terminal and middle phalanx of the 5th finger tetralogy of fallot with pulmonary atresia and major aortopulmonary collateral arteries tetralogy of fallot with pulmonary atresia and major aortopulmonary collateral artery thin innermost bone with broad end part of the hand bone thinning and bulging of posterior skull bone over the transverse sinus thinning and bulging of posterior skull bones over the transverse sinuses triangular end part of innermost long bone of the middle finger triangular end part of the innermost bone of the 2nd toe triangular end part of the innermost bone of the 3rd toe triangular end part of the innermost bone of the 4th toe triangular end part of the innermost bone of the big toe triangular end part of the innermost bone of the little toe triangular end part of the innermost bone of the pinkie toe triangular end part of the innermost bone of the pinky toe triangular end part of the middle bone of the 2nd toe triangular end part of the middle bone of the 3rd toe triangular end part of the middle bone of the 4th toe triangular end part of the middle bone of the index finger triangular end part of the middle bone of the little finger triangular end part of the middle bone of the little toe triangular end part of the middle bone of the middle finger triangular end part of the middle bone of the pinkie finger triangular end part of the middle bone of the pinkie toe triangular end part of the middle bone of the pinky finger triangular end part of the middle bone of the pinky toe triangular end part of the middle bone of the ring finger triangular end part of the outermost bone of the 2nd toe triangular end part of the outermost bone of the 3rd toe triangular end part of the outermost bone of the 4th toe triangular end part of the outermost bone of the big toe triangular end part of the outermost bone of the index finger triangular end part of the outermost bone of the little toe triangular end part of the outermost bone of the pinkie toe triangular end part of the outermost bone of the pinky toe ulnar deviation of the hand or of finger of the hand ulnar deviation of the hand or of fingers of the hand uneven increase in bone density in 1st long bone of hand uneven increase in bone density in the outermost little toe bone uneven increase in bone density in the outermost pinkie toe bone uneven increase in bone density in the outermost pinky toe bone uneven or disproportionate growth of one body part compare to another uneven or disproportionate growth of one body part compared to another unusual hairline with hair growth on temple extend to lateral eyebrow unusual hairline with hair growth on temples extending to lateral eyebrow abnormal development of the end of long bone in arm and leg abnormal development of the ends of long bones in arms and legs abnormal glucose - 6 - phosphate dehydrogenase level in dried blood spot abnormal glucose - 6 - phosphate dehydrogenase level in red blood cell abnormal glucose - 6 - phosphate dehydrogenase level in red blood cells abnormal proportion of cd4 - positive , alpha - beta t cell abnormal proportion of cd4 - positive , alpha - beta t cells abnormal proportion of cd8 - positive , alpha - beta t cell abnormal proportion of cd8 - positive , alpha - beta t cells abnormal proportion of central memory cd4+ , alpha - beta t cell abnormal proportion of central memory cd4+ , alpha - beta t cells abnormal proportion of double - negative alpha - beta regulatory t cell abnormal udp - glucose 4 - epimerase level in red blood cell abnormal udp - glucose 4 - epimerase level in red blood cells abnormality of end part of the long bone of the upper arm abnormality of end part of the middle bone of the index finger abnormality of end part of the middle bone of the middle finger abnormality of end part of the outermost bone of the little finger abnormality of end part of the outermost bone of the pinkie finger abnormality of end part of the outermost bone of the pinky finger abnormality of the end part of the 1st long bone of foot abnormality of the end part of the 1st long bone of hand abnormality of the end part of the 2nd long bone of hand abnormality of the end part of the 3rd long bone of hand abnormality of the end part of the 4th long bone of hand abnormality of the end part of the long bone of little finger abnormality of the end part of the long bone of pinkie finger abnormality of the end part of the long bone of pinky finger abnormality of the end part of the outermost bone of the thumb abnormality of the epiphysis of the distal phalanx of the 2nd finger abnormality of the epiphysis of the distal phalanx of the 2nd toe abnormality of the epiphysis of the distal phalanx of the 3rd finger abnormality of the epiphysis of the distal phalanx of the 3rd toe abnormality of the epiphysis of the distal phalanx of the 4th finger abnormality of the epiphysis of the distal phalanx of the 4th toe abnormality of the epiphysis of the distal phalanx of the 5th finger abnormality of the epiphysis of the distal phalanx of the 5th toe abnormality of the epiphysis of the middle phalanx of the 2nd finger abnormality of the epiphysis of the middle phalanx of the 2nd toe abnormality of the epiphysis of the middle phalanx of the 3rd finger abnormality of the epiphysis of the middle phalanx of the 3rd toe abnormality of the epiphysis of the middle phalanx of the 4th finger abnormality of the epiphysis of the middle phalanx of the 4th toe abnormality of the epiphysis of the middle phalanx of the 5th finger abnormality of the epiphysis of the middle phalanx of the 5th toe abnormality of the epiphysis of the proximal phalanx of the 2nd finger abnormality of the epiphysis of the proximal phalanx of the 2nd toe abnormality of the epiphysis of the proximal phalanx of the 3rd finger abnormality of the epiphysis of the proximal phalanx of the 3rd toe abnormality of the epiphysis of the proximal phalanx of the 4th finger abnormality of the epiphysis of the proximal phalanx of the 4th toe abnormality of the epiphysis of the proximal phalanx of the 5th finger abnormality of the epiphysis of the proximal phalanx of the 5th toe abnormality of the epiphysis of the terminal phalanx of the little finger abnormality of the wide portion of the long bone in upper arm absence of cd4 - positive , cd25 - positive regulatory t cell absence of cd4 - positive , cd25 - positive regulatory t cells angel - shaped epiphysis of the proximal phalanx of the 5th finger anomalous coronary artery with aortic origin and course between the great arteries anomalous coronary artery with aortic origin and course between the great artery anomalous origin of the circumflex artery from the right sinus of valsalva anomalous origin of the left anterior descend artery from the pulmonary artery anomalous origin of the left anterior descending artery from the pulmonary artery anomalous origin of the left circumflex artery from the right coronary artery anomalous origin of the left common carotid artery from the brachiocephalic artery anomalous origin of the left common carotid artery from the brachiocephalic trunk anti - anti - leucine - rich glioma - inactivated 1 antibody anti - low - density lipoprotein receptor - related protein 4 antibody bracket shape end part of innermost long bone of the middle finger bracket shape end part of the innermost bone of the 2nd toe bracket shape end part of the innermost bone of the little finger bracket shape end part of the innermost bone of the little toe bracket shape end part of the innermost bone of the pinkie finger bracket shape end part of the innermost bone of the pinkie toe bracket shape end part of the innermost bone of the pinky finger bracket shape end part of the innermost bone of the pinky toe bracket shape end part of the innermost bone of the ring finger bracket shape end part of the middle bone of the 2nd toe bracket shape end part of the middle bone of the 4th toe bracket shape end part of the middle bone of the little finger bracket shape end part of the middle bone of the little toe bracket shape end part of the middle bone of the middle finger bracket shape end part of the middle bone of the pinkie finger bracket shape end part of the middle bone of the pinkie toe bracket shape end part of the middle bone of the pinky finger bracket shape end part of the middle bone of the pinky toe bracket shape end part of the middle bone of the ring finger bracket shape end part of the outermost bone of the 2nd toe bracket shape end part of the outermost bone of the 3rd toe bracket shape end part of the outermost bone of the 4th toe bracket shape end part of the outermost bone of the index finger bracket shape end part of the outermost bone of the little toe bracket shape end part of the outermost bone of the middle finger bracket shape end part of the outermost bone of the pinkie toe bracket shape end part of the outermost bone of the pinky toe bracket shape end part of the outermost bone of the ring finger bracket shaped end part of innermost long bone of the middle finger bracket shaped end part of the innermost bone of the 2nd toe bracket shaped end part of the innermost bone of the little finger bracket shaped end part of the innermost bone of the little toe bracket shaped end part of the innermost bone of the pinkie finger bracket shaped end part of the innermost bone of the pinkie toe bracket shaped end part of the innermost bone of the pinky finger bracket shaped end part of the innermost bone of the pinky toe bracket shaped end part of the innermost bone of the ring finger bracket shaped end part of the middle bone of the 2nd toe bracket shaped end part of the middle bone of the 4th toe bracket shaped end part of the middle bone of the little finger bracket shaped end part of the middle bone of the little toe bracket shaped end part of the middle bone of the middle finger bracket shaped end part of the middle bone of the pinkie finger bracket shaped end part of the middle bone of the pinkie toe bracket shaped end part of the middle bone of the pinky finger bracket shaped end part of the middle bone of the pinky toe bracket shaped end part of the middle bone of the ring finger bracket shaped end part of the outermost bone of the 2nd toe bracket shaped end part of the outermost bone of the 3rd toe bracket shaped end part of the outermost bone of the 4th toe bracket shaped end part of the outermost bone of the index finger bracket shaped end part of the outermost bone of the little toe bracket shaped end part of the outermost bone of the middle finger bracket shaped end part of the outermost bone of the pinkie toe bracket shaped end part of the outermost bone of the pinky toe bracket shaped end part of the outermost bone of the ring finger bulge in wall of large artery that carries blood away from heart bulge in wall of large artery that carry blood away from heart common origin of the right brachiocephalic artery and leave common carotid artery common origin of the right brachiocephalic artery and left common carotid artery cone - shaped end part of innermost long bone of index finger cone - shaped end part of the 1st long bone of foot cone - shaped end part of the 1st long bone of hand cone - shaped end part of the innermost bone of little finger cone - shaped end part of the innermost bone of pinkie finger cone - shaped end part of the innermost bone of pinky finger cone - shaped epiphysis of the distal phalanx of the 2nd finger cone - shaped epiphysis of the distal phalanx of the 2nd toe cone - shaped epiphysis of the distal phalanx of the 3rd finger cone - shaped epiphysis of the distal phalanx of the 3rd toe cone - shaped epiphysis of the distal phalanx of the 4th finger cone - shaped epiphysis of the distal phalanx of the 4th toe cone - shaped epiphysis of the distal phalanx of the 5th finger cone - shaped epiphysis of the distal phalanx of the 5th toe cone - shaped epiphysis of the distal phalanx of the little finger cone - shaped epiphysis of the middle phalanx of the 2nd finger cone - shaped epiphysis of the middle phalanx of the 2nd toe cone - shaped epiphysis of the middle phalanx of the 3rd finger cone - shaped epiphysis of the middle phalanx of the 3rd toe cone - shaped epiphysis of the middle phalanx of the 4th finger cone - shaped epiphysis of the middle phalanx of the 4th toe cone - shaped epiphysis of the middle phalanx of the 5th finger cone - shaped epiphysis of the middle phalanx of the 5th toe cone - shaped epiphysis of the proximal phalanx of the 2nd finger cone - shaped epiphysis of the proximal phalanx of the 2nd toe cone - shaped epiphysis of the proximal phalanx of the 3rd finger cone - shaped epiphysis of the proximal phalanx of the 3rd toe cone - shaped epiphysis of the proximal phalanx of the 4th finger cone - shaped epiphysis of the proximal phalanx of the 4th toe cone - shaped epiphysis of the proximal phalanx of the 5th finger cone - shaped epiphysis of the proximal phalanx of the 5th toe cone - shaped epiphysis of the proximal phalanx of the little finger death of body tissue due to lack of blood flow or infection decrease glucose - 6 - phosphate dehydrogenase level in dried blood spot decrease glucose - 6 - phosphate dehydrogenase level in red blood cell decrease level of 1,5 - anhydro - d - glucitol in serum decrease udp - glucose 4 - epimerase level in red blood cell decreased glucose - 6 - phosphate dehydrogenase level in dried blood spot decreased glucose - 6 - phosphate dehydrogenase level in red blood cells decreased level of 1,5 - anhydro - d - glucitol in serum decreased proportion of cd4 - positive , alpha - beta t cell decreased proportion of cd4 - positive , alpha - beta t cells decreased proportion of cd8 - positive , alpha - beta t cell decreased proportion of cd8 - positive , alpha - beta t cells decreased proportion of central memory cd4+ , alpha - beta t cell decreased udp - glucose 4 - epimerase level in red blood cells delta - shaped epiphysis of the distal phalanx of the 3rd finger delta - shaped epiphysis of the distal phalanx of the 4th finger delta - shaped epiphysis of the distal phalanx of the 5th finger delta - shaped epiphysis of the middle phalanx of the 3rd finger delta - shaped epiphysis of the middle phalanx of the 4th finger delta - shaped epiphysis of the middle phalanx of the 5th finger delta - shaped epiphysis of the proximal phalanx of the 3rd finger delta - shaped epiphysis of the proximal phalanx of the 4th finger delta - shaped epiphysis of the proximal phalanx of the 5th finger detection of pas - positive extracellular material in broncho - alveolar lavage double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis eeg with spike - wave complex ( 2.5 - 3.5 hz ) eeg with spike - wave complexes ( 2.5 - 3.5 hz ) elevate cd4 - positive , cd25 - positive regulatory t cell count elevated cd4 - positive , cd25 - positive regulatory t cell count elevated level of cholesta - 5,7 - dien - 3beta - ol elevated levels of cholesta - 5,7 - dien - 3beta - ol fluid - fill sac locate in membrane surround brain or spinal cord fluid - filled sac located in membrane surrounding brain or spinal cord focal aware autonomic seizure with palpitation / tachycardia / bradycardia / asystole focal aware autonomic seizure with palpitations / tachycardia / bradycardia / asystole focal impair awareness autonomic seizure with hypoventilation / hyperventilation / alter respiration focal impaired awareness autonomic seizure with hypoventilation / hyperventilation / altered respiration fragmentation of end part of innermost long bone of the middle finger fragmentation of end part of the innermost bone of the little finger fragmentation of end part of the innermost bone of the pinkie finger fragmentation of end part of the innermost bone of the pinky finger fragmentation of end part of the innermost bone of the ring finger fragmentation of end part of the middle bone of the little finger fragmentation of end part of the middle bone of the middle finger fragmentation of end part of the middle bone of the pinkie finger fragmentation of end part of the middle bone of the pinky finger fragmentation of end part of the middle bone of the ring finger fragmentation of end part of the outermost bone of the index finger fragmentation of end part of the outermost bone of the middle finger fragmentation of end part of the outermost bone of the ring finger fragmentation of the end part of the 1st long bone of foot fragmentation of the end part of the 1st long bone of hand fragmentation of the epiphysis of the distal phalanx of the 2nd finger fragmentation of the epiphysis of the distal phalanx of the 2nd toe fragmentation of the epiphysis of the distal phalanx of the 3rd finger fragmentation of the epiphysis of the distal phalanx of the 3rd toe fragmentation of the epiphysis of the distal phalanx of the 4th finger fragmentation of the epiphysis of the distal phalanx of the 4th toe fragmentation of the epiphysis of the distal phalanx of the 5th finger fragmentation of the epiphysis of the distal phalanx of the 5th toe fragmentation of the epiphysis of the middle phalanx of the 2nd finger fragmentation of the epiphysis of the middle phalanx of the 2nd toe fragmentation of the epiphysis of the middle phalanx of the 3rd finger fragmentation of the epiphysis of the middle phalanx of the 3rd toe fragmentation of the epiphysis of the middle phalanx of the 4th finger fragmentation of the epiphysis of the middle phalanx of the 4th toe fragmentation of the epiphysis of the middle phalanx of the 5th finger fragmentation of the epiphysis of the middle phalanx of the 5th toe fragmentation of the epiphysis of the proximal phalanx of the 2nd finger fragmentation of the epiphysis of the proximal phalanx of the 2nd toe fragmentation of the epiphysis of the proximal phalanx of the 3rd finger fragmentation of the epiphysis of the proximal phalanx of the 3rd toe fragmentation of the epiphysis of the proximal phalanx of the 4th finger fragmentation of the epiphysis of the proximal phalanx of the 4th toe fragmentation of the epiphysis of the proximal phalanx of the 5th finger fragmentation of the epiphysis of the proximal phalanx of the 5th toe fuse innermost bone of index finger with 2nd long bone of hand fuse innermost bone of little finger with 5th long bone of hand fuse innermost bone of middle finger with middle long bone of hand fuse innermost bone of pinkie finger with 5th long bone of hand fuse innermost bone of pinky finger with 5th long bone of hand fuse innermost bone of ring finger with 4th long bone of hand fuse innermost bone of third toe with 3rd long bone of foot fuse innermost pinky toe bone with the 5th long bone of foot fused innermost bone of index finger with 2nd long bone of hand fused innermost bone of little finger with 5th long bone of hand fused innermost bone of pinkie finger with 5th long bone of hand fused innermost bone of pinky finger with 5th long bone of hand fused innermost bone of ring finger with 4th long bone of hand fused innermost bones of middle finger with middle long bone of hand fused innermost bones of third toe with 3rd long bone of foot fused innermost pinky toe bone with the 5th long bone of foot impaired growth hormone secretory response after growth hormone - release hormone challenge impaired growth hormone secretory responses after growth hormone - releasing hormone challenge inability to properly digest food due to lack of pancreatic digestive enzyme inability to properly digest food due to lack of pancreatic digestive enzymes increase bone density in central part of long bone of upper limb increase bone density of end part of the innermost middle finger bone increase bone density of end part of the innermost ring finger bone increase bone density of end part of the long bone of hand increase bone density of end part of the middle ring finger bone increase bone density of end part of the outermost little finger bone increase bone density of end part of the outermost middle finger bone increase bone density of end part of the outermost pinkie finger bone increase bone density of end part of the outermost pinky finger bone increase bone density of end part of the outermost ring finger bone increase glucose - 6 - phosphate dehydrogenase level in dried blood spot increase glucose - 6 - phosphate dehydrogenase level in red blood cell increase level of 5 - oxo - l - proline in urine increase level of anti - melanoma differentiation - associate protein 5 antibody increase n - acetyl - l - aspartic acid level in csf increase proportion of cd4 - positive , alpha - beta t cell increase proportion of central memory cd4+ , alpha - beta t cell increase udp - glucose 4 - epimerase level in red blood cell increased bone density in central part of long bone of upper limbs increased bone density of end part of the innermost middle finger bone increased bone density of end part of the innermost ring finger bone increased bone density of end part of the long bone of hands increased bone density of end part of the middle ring finger bone increased bone density of end part of the outermost little finger bone increased bone density of end part of the outermost middle finger bone increased bone density of end part of the outermost pinkie finger bone increased bone density of end part of the outermost pinky finger bone increased bone density of end part of the outermost ring finger bone increased glucose - 6 - phosphate dehydrogenase level in dried blood spot increased glucose - 6 - phosphate dehydrogenase level in red blood cells increased level of 5 - oxo - l - proline in urine increased level of anti - melanoma differentiation - associated protein 5 antibodies increased n - acetyl - l - aspartic acid levels in csf increased proportion of cd4 - positive , alpha - beta t cells increased proportion of central memory cd4+ , alpha - beta t cell increased udp - glucose 4 - epimerase level in red blood cells involuntary writhe movement in finger , hand , toe , and foot involuntary writhing movements in fingers , hands , toes , and feet irregular end part of the middle long bone of the index finger irregular end part of the outermost long bone of the middle finger miss end part of the middle long bone of the index finger missing end part of the middle long bone of the index finger paralysis or weakness of muscle within or surround out part of eye paralysis or weakness of muscles within or surrounding outer part of eye partial / complete duplication of the distal phalanx of the 2nd finger partial / complete duplication of the distal phalanx of the 2nd toe partial / complete duplication of the distal phalanx of the 3rd finger partial / complete duplication of the distal phalanx of the 3rd toe partial / complete duplication of the distal phalanx of the 4th finger partial / complete duplication of the distal phalanx of the 4th toe partial / complete duplication of the distal phalanx of the 5th finger partial / complete duplication of the distal phalanx of the 5th toe partial / complete duplication of the middle bone of the index finger partial / complete duplication of the middle bone of the ring finger partial / complete duplication of the middle bones of the index finger partial / complete duplication of the middle phalanx of the 2nd finger partial / complete duplication of the middle phalanx of the 2nd toe partial / complete duplication of the middle phalanx of the 3rd finger partial / complete duplication of the middle phalanx of the 3rd toe partial / complete duplication of the middle phalanx of the 4th finger partial / complete duplication of the middle phalanx of the 4th toe partial / complete duplication of the middle phalanx of the 5th finger partial / complete duplication of the middle phalanx of the 5th toe partial / complete duplication of the outermost bone of the index finger partial / complete duplication of the outermost bone of the middle finger partial / complete duplication of the outermost bone of the ring finger partial / complete duplication of the proximal phalanx of the 2nd finger partial / complete duplication of the proximal phalanx of the 2nd toe partial / complete duplication of the proximal phalanx of the 3rd finger partial / complete duplication of the proximal phalanx of the 3rd toe partial / complete duplication of the proximal phalanx of the 4th finger partial / complete duplication of the proximal phalanx of the 4th toe partial / complete duplication of the proximal phalanx of the 5th finger partial / complete duplication of the proximal phalanx of the 5th toe pyramidal skinfold extend from the base to the top of the nail pyramidal skinfold extending from the base to the top of the nails reduce amplitude of dark - adapted bright flash electroretinogram a - wave reduce amplitude of dark - adapted bright flash electroretinogram b - wave reduced amplitude of dark - adapted bright flash electroretinogram a - wave reduced amplitude of dark - adapted bright flash electroretinogram b - wave right side atrium to leave ventricle and absent leave sided atrioventricular connection right side atrium to leave ventricle and absent leave sided atrioventricular connexion right sided atrium to left ventricle and absent left sided atrioventricular connection right sided atrium to left ventricle and absent left sided atrioventricular connexion small dilate blood vessel near membrane cover front of eye and eyelid small dilated blood vessels near membrane covering front of eye and eyelids small end part of the outermost long bone of the middle finger speckled calcification in end part of innermost long bone of upper arm speckled calcification in end part of the innermost bone of ring finger speckled calcification in end part of the outermost bone of little finger speckled calcification in end part of the outermost bone of pinkie finger speckled calcification in end part of the outermost bone of pinky finger speckled calcifications in end part of innermost long bone of upper arm speckled calcifications in end part of the innermost bone of ring finger speckled calcifications in end part of the outermost bone of little finger speckled calcifications in end part of the outermost bone of pinkie finger speckled calcifications in end part of the outermost bone of pinky finger stippling of the epiphysis of the distal phalanx of the 2nd finger stippling of the epiphysis of the distal phalanx of the 2nd toe stippling of the epiphysis of the distal phalanx of the 3rd finger stippling of the epiphysis of the distal phalanx of the 3rd toe stippling of the epiphysis of the distal phalanx of the 4th finger stippling of the epiphysis of the distal phalanx of the 4th toe stippling of the epiphysis of the distal phalanx of the 5th finger stippling of the epiphysis of the distal phalanx of the 5th toe stippling of the epiphysis of the middle phalanx of the 2nd finger stippling of the epiphysis of the middle phalanx of the 2nd toe stippling of the epiphysis of the middle phalanx of the 3rd finger stippling of the epiphysis of the middle phalanx of the 3rd toe stippling of the epiphysis of the middle phalanx of the 4th finger stippling of the epiphysis of the middle phalanx of the 4th toe stippling of the epiphysis of the middle phalanx of the 5th finger stippling of the epiphysis of the middle phalanx of the 5th toe stippling of the epiphysis of the proximal phalanx of the 2nd finger stippling of the epiphysis of the proximal phalanx of the 2nd toe stippling of the epiphysis of the proximal phalanx of the 3rd finger stippling of the epiphysis of the proximal phalanx of the 3rd toe stippling of the epiphysis of the proximal phalanx of the 4th finger stippling of the epiphysis of the proximal phalanx of the 4th toe stippling of the epiphysis of the proximal phalanx of the 5th finger stippling of the epiphysis of the proximal phalanx of the 5th toe supraventricular tachycardia with a concealed accessory pathway on the left free wall supraventricular tachycardia with a concealed accessory pathway on the right free wall supraventricular tachycardia with a manifest accessory pathway on the left free wall supraventricular tachycardia with a manifest accessory pathway on the right free wall synostosis of the proximal phalanx of the hallux with the 1st metatarsal synostosis of the proximal phalanx of the thumb with the 1st metacarpal triangular end part of the outermost long bone of the middle finger uneven increase in bone density in middle bone of the 4th toe uneven increase in bone density in the innermost bone of little finger uneven increase in bone density in the innermost bone of pinkie finger uneven increase in bone density in the innermost bone of pinky finger uneven increase in bone density in the outermost bone of big toe uneven increase in bone density in the outermost bone of little finger uneven increase in bone density in the outermost bone of pinkie finger uneven increase in bone density in the outermost bone of pinky finger uneven increase in bone density in the outermost bone of the thumb uneven increase in bone density of the 1st long bone of foot abnormal natural antibody level to blood group antigen in blood ( isohemagglutinin ) abnormal natural antibody level to blood group antigens in blood ( isohemagglutinin ) abnormal proportion of cd4 - positive , alpha - beta memory t cell abnormal proportion of cd4 - positive , alpha - beta memory t cells abnormal proportion of cd8 - positive , alpha - beta memory t cell abnormal proportion of cd8 - positive , alpha - beta memory t cells abnormal proportion of cd8 - positive , alpha - beta temra t cell abnormal proportion of cd8 - positive , alpha - beta temra t cells abnormal proportion of naive thymus - derive , alpha - beta t cell abnormal proportion of naive thymus - derived , alpha - beta t cells abnormal uridine diphosphate glucose - 4 - epimerase level in red blood cell abnormal uridine diphosphate glucose - 4 - epimerase level in red blood cells abnormality of the end part of the innermost bone of the 2nd toe abnormality of the end part of the innermost bone of the 3rd toe abnormality of the end part of the innermost bone of the 4th toe abnormality of the end part of the innermost bone of the big toe abnormality of the end part of the innermost bone of the little toe abnormality of the end part of the innermost bone of the middle finger abnormality of the end part of the innermost bone of the pinkie toe abnormality of the end part of the innermost bone of the pinky toe abnormality of the end part of the innermost bone of the ring finger abnormality of the end part of the innermost long bone in upper arm abnormality of the end part of the middle bone of the 2nd toe abnormality of the end part of the middle bone of the 3rd toe abnormality of the end part of the middle bone of the 4th toe abnormality of the end part of the middle bone of the little toe abnormality of the end part of the middle bone of the pinkie toe abnormality of the end part of the middle bone of the pinky toe abnormality of the end part of the middle bone of the ring finger abnormality of the end part of the outermost bone of the 2nd toe abnormality of the end part of the outermost bone of the 3rd toe abnormality of the end part of the outermost bone of the 4th toe abnormality of the end part of the outermost bone of the index finger abnormality of the end part of the outermost bone of the little toe abnormality of the end part of the outermost bone of the middle finger abnormality of the end part of the outermost bone of the pinkie toe abnormality of the end part of the outermost bone of the pinky toe abnormality of the end part of the outermost bone of the ring finger abnormality of the end part of the outermost long bone in upper arm abnormality of the middle part of the middle bone of the middle finger an opening in the wall separate the top two chamber of the heart an opening in the wall separating the top two chambers of the heart anomalous origin of the left common carotid artery from the main pulmonary artery anti - 3 - hydroxy - 3 - methylglutaryl - coa reductase antibodies anti - 3 - hydroxy - 3 - methylglutaryl - coa reductase antibody anti - cv2 / collapsin response mediator protein ( crmp ) 5 antibody bracket shape end part of the middle long bone of the index finger bracket shaped end part of the middle long bone of the index finger complete or near - complete absence of specific antibody response to meningococcus vaccine complete or near - complete absence of specific antibody response to tetanus vaccine cone - shaped end part of the innermost bone of the 2nd toe cone - shaped end part of the innermost bone of the 3rd toe cone - shaped end part of the innermost bone of the 4th toe cone - shaped end part of the innermost bone of the big toe cone - shaped end part of the innermost bone of the little toe cone - shaped end part of the innermost bone of the middle finger cone - shaped end part of the innermost bone of the pinkie toe cone - shaped end part of the innermost bone of the pinky toe cone - shaped end part of the innermost bone of the ring finger cone - shaped end part of the middle bone of the 2nd toe cone - shaped end part of the middle bone of the 3rd toe cone - shaped end part of the middle bone of the 4th toe cone - shaped end part of the middle bone of the little finger cone - shaped end part of the middle bone of the little toe cone - shaped end part of the middle bone of the middle finger cone - shaped end part of the middle bone of the pinkie finger cone - shaped end part of the middle bone of the pinkie toe cone - shaped end part of the middle bone of the pinky finger cone - shaped end part of the middle bone of the pinky toe cone - shaped end part of the middle bone of the ring finger cone - shaped end part of the outermost bone of the 2nd toe cone - shaped end part of the outermost bone of the 3rd toe cone - shaped end part of the outermost bone of the 4th toe cone - shaped end part of the outermost bone of the big toe cone - shaped end part of the outermost bone of the index finger cone - shaped end part of the outermost bone of the little toe cone - shaped end part of the outermost bone of the middle finger cone - shaped end part of the outermost bone of the pinkie toe cone - shaped end part of the outermost bone of the pinky toe cone - shaped end part of the outermost bone of the ring finger decrease uridine diphosphate glucose - 4 - epimerase level in red blood cell decreased glycosyltransferase o - fucosylpeptide 3 - beta - n - acetylglucosaminyltransferase level decreased proportion of cd4 - positive , alpha - beta memory t cell decreased proportion of cd4 - positive , alpha - beta memory t cells decreased proportion of cd8 - positive , alpha - beta memory t cell decreased proportion of cd8 - positive , alpha - beta memory t cells decreased proportion of cd8 - positive , alpha - beta temra t cell decreased proportion of cd8 - positive , alpha - beta temra t cells decreased proportion of naive thymus - derive , alpha - beta t cell decreased proportion of naive thymus - derived , alpha - beta t cells decreased uridine diphosphate glucose - 4 - epimerase level in red blood cells delay maturation of the end part of the long bone in upper arm delayed maturation of the end part of the long bone in upper arm double outlet right ventricle with doubly commit ventricular septal defect and pulmonary stenosis double outlet right ventricle with doubly commit ventricular septal defect without pulmonary stenosis double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis elevate proportion central memory cd4 - positive , alpha - beta t cell elevated proportion central memory cd4 - positive , alpha - beta t cells emg : decremental response of compound muscle action potential to repetitive nerve stimulation emg : incremental response of compound muscle action potential to repetitive nerve stimulation focal impair awareness autonomic seizure with palpitation / tachycardia / bradycardia / asystole focal impaired awareness autonomic seizure with palpitations / tachycardia / bradycardia / asystole fragmentation of end part of the middle long bone of the index finger fragmentation of the end part of the innermost bone of the 2nd toe fragmentation of the end part of the innermost bone of the 3rd toe fragmentation of the end part of the innermost bone of the 4th toe fragmentation of the end part of the innermost bone of the big toe fragmentation of the end part of the innermost bone of the little toe fragmentation of the end part of the innermost bone of the pinkie toe fragmentation of the end part of the innermost bone of the pinky toe fragmentation of the end part of the middle bone of the 2nd toe fragmentation of the end part of the middle bone of the 3rd toe fragmentation of the end part of the middle bone of the 4th toe fragmentation of the end part of the middle bone of the little toe fragmentation of the end part of the middle bone of the pinkie toe fragmentation of the end part of the middle bone of the pinky toe fragmentation of the end part of the outermost bone of the 2nd toe fragmentation of the end part of the outermost bone of the 3rd toe fragmentation of the end part of the outermost bone of the 4th toe fragmentation of the end part of the outermost bone of the big toe fragmentation of the end part of the outermost bone of the little toe fragmentation of the end part of the outermost bone of the pinkie toe fragmentation of the end part of the outermost bone of the pinky toe fuse innermost bone of 2nd toe with the 2nd long bone of foot fuse innermost bone of the 4th toe with 4th long bone of foot fused innermost bone of 2nd toe with the 2nd long bone of foot fused innermost bone of the 4th toe with 4th long bone of foot increase bone density of end part of the 1st long bone of foot increase bone density of end part of the 1st long bone of hand increase bone density of end part of the innermost bone of little finger increase bone density of end part of the innermost bone of pinkie finger increase bone density of end part of the innermost bone of pinky finger increase bone density of end part of the innermost bone of the thumb increase bone density of end part of the middle bone of little finger increase bone density of end part of the middle bone of pinkie finger increase bone density of end part of the middle bone of pinky finger increase bone density of end part of the outermost bone of the thumb increase level of 3 - hydroxy - 3 - methylglutaric acid in urine increase proportion of cd4 - positive , alpha - beta memory t cell increase proportion of cd8 - positive , alpha - beta memory t cell increase proportion of cd8 - positive , alpha - beta temra t cell increase proportion of effector cd4 - positive , alpha - beta t cell increase proportion of naive thymus - derive , alpha - beta t cell increase uridine diphosphate glucose - 4 - epimerase level in red blood cell increased bone density of end part of the 1st long bone of foot increased bone density of end part of the 1st long bone of hand increased bone density of end part of the innermost bone of little finger increased bone density of end part of the innermost bone of pinkie finger increased bone density of end part of the innermost bone of pinky finger increased bone density of end part of the innermost bone of the thumb increased bone density of end part of the middle bone of little finger increased bone density of end part of the middle bone of pinkie finger increased bone density of end part of the middle bone of pinky finger increased bone density of end part of the outermost bone of the thumb increased level of 3 - hydroxy - 3 - methylglutaric acid in urine increased proportion of cd4 - positive , alpha - beta memory t cells increased proportion of cd8 - positive , alpha - beta memory t cells increased proportion of cd8 - positive , alpha - beta temra t cells increased proportion of effector cd4 - positive , alpha - beta t cells increased proportion of naive thymus - derived , alpha - beta t cells increased uridine diphosphate glucose - 4 - epimerase level in red blood cells inflammation of the thin layer on top of the white part of eye irregular maturation of the end part of the long bone in upper arm large vacuolated foam cell ( 'np cell ' ) on bone marrow biopsy large vacuolated foam cells ( 'np cells ' ) on bone marrow biopsy nodular - centrilobular with tree - in - bud pattern on pulmonary hrct nodular - centrilobular without tree - in - bud pattern on pulmonary hrct speckled calcification in end part of innermost long bone of the middle finger speckled calcification in end part of the innermost bone of the pinkie toe speckled calcification in end part of the innermost long bone of index finger speckled calcification in end part of the innnermost bone of the little finger speckled calcification in end part of the innnermost bone of the pinkie finger speckled calcification in end part of the innnermost bone of the pinky finger speckled calcification in end part of the middle bone of the index finger speckled calcification in end part of the middle bone of the little finger speckled calcification in end part of the middle bone of the middle finger speckled calcification in end part of the middle bone of the pinkie finger speckled calcification in end part of the middle bone of the pinky finger speckled calcification in end part of the middle bone of the ring finger speckled calcification in end part of the outermost bone of the index finger speckled calcification in middle part of the innermost bone of the little toe speckled calcification in middle part of the innermost bone of the pinky toe speckled calcification in the end part of the 1st long bone of foot speckled calcification in the end part of the first long bone of hand speckled calcifications in end part of innermost long bone of the middle finger speckled calcifications in end part of the innermost bone of the pinkie toe speckled calcifications in end part of the innermost long bone of index finger speckled calcifications in end part of the innnermost bone of the little finger speckled calcifications in end part of the innnermost bone of the pinkie finger speckled calcifications in end part of the innnermost bone of the pinky finger speckled calcifications in end part of the middle bone of the index finger speckled calcifications in end part of the middle bone of the little finger speckled calcifications in end part of the middle bone of the middle finger speckled calcifications in end part of the middle bone of the pinkie finger speckled calcifications in end part of the middle bone of the pinky finger speckled calcifications in end part of the middle bone of the ring finger speckled calcifications in end part of the outermost bone of the index finger speckled calcifications in middle part of the innermost bone of the little toe speckled calcifications in middle part of the innermost bone of the pinky toe speckled calcifications in the end part of the 1st long bone of foot speckled calcifications in the end part of the first long bone of hand symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal tear in inner wall of large artery that carries blood away from heart tear in inner wall of large artery that carry blood away from heart thickening of the outer layer of the skin of the palm and sol thickening of the outer layer of the skin of the palms and soles uneven increase in bone density in the innermost bone of the 2nd toe uneven increase in bone density in the innermost bone of the 3rd toe uneven increase in bone density in the innermost bone of the 4th toe uneven increase in bone density in the innermost bone of the big toe uneven increase in bone density in the innermost bone of the little toe uneven increase in bone density in the innermost bone of the middle finger uneven increase in bone density in the innermost bone of the pinkie toe uneven increase in bone density in the innermost bone of the pinky toe uneven increase in bone density in the innermost bone of the ring finger uneven increase in bone density in the middle bone of the 2nd toe uneven increase in bone density in the middle bone of the 3rd toe uneven increase in bone density in the middle bone of the index finger uneven increase in bone density in the middle bone of the little finger uneven increase in bone density in the middle bone of the little toe uneven increase in bone density in the middle bone of the middle finger uneven increase in bone density in the middle bone of the pinkie finger uneven increase in bone density in the middle bone of the pinkie toe uneven increase in bone density in the middle bone of the pinky finger uneven increase in bone density in the middle bone of the pinky toe uneven increase in bone density in the middle bone of the ring finger uneven increase in bone density in the middle finger bone of the hand uneven increase in bone density in the middle finger bones of the hand uneven increase in bone density in the outermost bone of the 2nd finger uneven increase in bone density in the outermost bone of the 2nd toe uneven increase in bone density in the outermost bone of the 3rd finger uneven increase in bone density in the outermost bone of the 3rd toe uneven increase in bone density in the outermost bone of the 4th toe uneven increase in bone density in the outermost bone of the ring finger abnormal proportion of central memory cd4 - positive , alpha - beta t cell abnormal proportion of central memory cd4 - positive , alpha - beta t cells abnormal proportion of central memory cd8 - positive , alpha - beta t cell abnormal proportion of central memory cd8 - positive , alpha - beta t cells abnormal proportion of effector memory cd4 - positive , alpha - beta t cell abnormal proportion of effector memory cd4 - positive , alpha - beta t cells abnormal proportion of effector memory cd8 - positive , alpha - beta t cell abnormal proportion of effector memory cd8 - positive , alpha - beta t cells abnormality of the end part of the outermost bone of the big toe bone anti - 3 - hydroxy - 3 - methylglutaryl - coa reductase antibody positivity anti - delta / notch - like epidermal growth factor - related receptor antibody anti - p / q - type voltage - gated calcium - channel antibody anti - sry - like high mobility group box ( sox ) 1 antibody biventricular heart with straddle right side atrioventricular valve and absent leave sided atrioventricular connection biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection bulge in wall of root of large artery that carries blood away from heart bulge in wall of root of large artery that carry blood away from heart complete or near - complete absence of specific antibody response to hepatitis b vaccine complete or near - complete absence of specific antibody response to unconjugated pneumococcus vaccine cone - shaped end part of the middle long bone of the index finger decreased proportion of central memory cd4 - positive , alpha - beta t cell decreased proportion of central memory cd4 - positive , alpha - beta t cells decreased proportion of central memory cd8 - positive , alpha - beta t cell decreased proportion of central memory cd8 - positive , alpha - beta t cells decreased proportion of effector memory cd4 - positive , alpha - beta t cell decreased proportion of effector memory cd4 - positive , alpha - beta t cells decreased proportion of effector memory cd8 - positive , alpha - beta t cell decreased proportion of effector memory cd8 - positive , alpha - beta t cells degeneration of alpha - motor neuron in anterior horn cell of the spinal cord degeneration of alpha - motor neurons in anterior horn cells of the spinal cord double outlet right ventricle with non - committed ventricular septal defect and pulmonary stenosis double outlet right ventricle with non - committed ventricular septal defect without pulmonary stenosis febrile seizure ( within the age range of 3 month to 6 year ) febrile seizure ( within the age range of 3 months to 6 years ) focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomenon fusion of the innermost big toe bone with the 1st long bone of foot hair shaft flatten at irregular interval and twist through 180 degree about their ax hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes hump - shape mound of bone in central and posterior portion of vertebral endplate hump - shaped mound of bone in central and posterior portions of vertebral endplate increase anti - galactose - alpha - 1 , 3 galactose ige antibody level increase bone density of end part of the innermost bone of the 2nd toe increase bone density of end part of the innermost bone of the 3rd toe increase bone density of end part of the innermost bone of the 4th toe increase bone density of end part of the innermost bone of the big toe increase bone density of end part of the innermost bone of the index finger increase bone density of end part of the innermost bone of the little toe increase bone density of end part of the innermost bone of the pinkie toe increase bone density of end part of the innermost bone of the pinky toe increase bone density of end part of the middle bone of the 2nd toe increase bone density of end part of the middle bone of the 3rd toe increase bone density of end part of the middle bone of the 4th toe increase bone density of end part of the middle bone of the index finger increase bone density of end part of the middle bone of the little toe increase bone density of end part of the middle bone of the middle finger increase bone density of end part of the middle bone of the pinkie toe increase bone density of end part of the middle bone of the pinky toe increase bone density of end part of the outermost bone of the 2nd toe increase bone density of end part of the outermost bone of the 3rd toe increase bone density of end part of the outermost bone of the 4th toe increase bone density of end part of the outermost bone of the big toe increase bone density of end part of the outermost bone of the index finger increase bone density of end part of the outermost bone of the little toe increase bone density of end part of the outermost bone of the pinkie toe increase bone density of end part of the outermost bone of the pinky toe increase proportion of central memory cd4 - positive , alpha - beta t cell increase proportion of central memory cd8 - positive , alpha - beta t cell increase proportion of effector memory cd4 - positive , alpha - beta t cell increase proportion of effector memory cd8 - positive , alpha - beta t cell increased anti - galactose - alpha - 1 , 3 galactose ige antibody level increased bone density of end part of the innermost bone of the 2nd toe increased bone density of end part of the innermost bone of the 3rd toe increased bone density of end part of the innermost bone of the 4th toe increased bone density of end part of the innermost bone of the big toe increased bone density of end part of the innermost bone of the index finger increased bone density of end part of the innermost bone of the little toe increased bone density of end part of the innermost bone of the pinkie toe increased bone density of end part of the innermost bone of the pinky toe increased bone density of end part of the middle bone of the 2nd toe increased bone density of end part of the middle bone of the 3rd toe increased bone density of end part of the middle bone of the 4th toe increased bone density of end part of the middle bone of the index finger increased bone density of end part of the middle bone of the little toe increased bone density of end part of the middle bone of the middle finger increased bone density of end part of the middle bone of the pinkie toe increased bone density of end part of the middle bone of the pinky toe increased bone density of end part of the outermost bone of the 2nd toe increased bone density of end part of the outermost bone of the 3rd toe increased bone density of end part of the outermost bone of the 4th toe increased bone density of end part of the outermost bone of the big toe increased bone density of end part of the outermost bone of the index finger increased bone density of end part of the outermost bone of the little toe increased bone density of end part of the outermost bone of the pinkie toe increased bone density of end part of the outermost bone of the pinky toe increased proportion of central memory cd4 - positive , alpha - beta t cells increased proportion of central memory cd8 - positive , alpha - beta t cells increased proportion of effector memory cd4 - positive , alpha - beta t cells increased proportion of effector memory cd8 - positive , alpha - beta t cells irregular bone maturation of the wide portion of the long bone in upper arm speckled calcification in end part of the outermost long bone of the middle finger speckled calcification in the end part of the innermost bone of the 2nd toe speckled calcification in the end part of the innermost bone of the 4th toe speckled calcification in the end part of the innermost bone of the big toe speckled calcification in the end part of the innermost bone of the little toe speckled calcification in the end part of the innermost bone of the pinkie toe speckled calcification in the end part of the innermost bone of the pinky toe speckled calcification in the end part of the middle bone of the 3rd toe speckled calcification in the end part of the middle bone of the 4th toe speckled calcification in the end part of the outermost bone of the 2nd toe speckled calcification in the end part of the outermost bone of the 3rd toe speckled calcification in the end part of the outermost bone of the 4th toe speckled calcification in the end part of the outermost bone of the big toe speckled calcification in the end part of the outermost bone of the little toe speckled calcification in the end part of the outermost bone of the pinkie toe speckled calcification in the end part of the outermost bone of the pinky toe speckled calcification in the end part of the outermost bone of the ring finger speckled calcifications in end part of the outermost long bone of the middle finger speckled calcifications in the end part of the innermost bone of the 2nd toe speckled calcifications in the end part of the innermost bone of the 4th toe speckled calcifications in the end part of the innermost bone of the big toe speckled calcifications in the end part of the innermost bone of the little toe speckled calcifications in the end part of the innermost bone of the pinkie toe speckled calcifications in the end part of the innermost bone of the pinky toe speckled calcifications in the end part of the middle bone of the 3rd toe speckled calcifications in the end part of the middle bone of the 4th toe speckled calcifications in the end part of the outermost bone of the 2nd toe speckled calcifications in the end part of the outermost bone of the 3rd toe speckled calcifications in the end part of the outermost bone of the 4th toe speckled calcifications in the end part of the outermost bone of the big toe speckled calcifications in the end part of the outermost bone of the little toe speckled calcifications in the end part of the outermost bone of the pinkie toe speckled calcifications in the end part of the outermost bone of the pinky toe speckled calcifications in the end part of the outermost bone of the ring finger focal aware autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena focal aware autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomenon fusion of the innermost bone of the thumb with the 1st long bone of hand increase collagen crosslinked n - telopeptide [ mole / volume ] in 24 hour urine increased collagen crosslinked n - telopeptide [ moles / volume ] in 24 hour urine low signal intensity in the substantia nigra on susceptibility - weighted imaging ( swi ) medium and short - chain l - 3 - hydroxyacyl - coenzyme a dehydrogenase deficiency partial absence of specific antibody response to haemophilus influenzae type b ( hib ) vaccine presence of anti - n - methyl - d - aspartate receptor antibody in blood presence of anti - n - methyl - d - aspartate receptor antibody in csf speckled calcification in of the end part of the innermost bone of the 3rd toe speckled calcification in of the end part of the middle bone of the 2nd toe speckled calcifications in of the end part of the innermost bone of the 3rd toe speckled calcifications in of the end part of the middle bone of the 2nd toe abnormal cd4 - negative , cd8 - negative , alpha - beta regulatory t cell distribution abnormal cd4 - positive , cd25 - positive , alpha - beta regulatory t cell count abnormal cd4 - positive , cd25 - positive , alpha - beta regulatory t cell morphology abnormal proportion of naive thymus - derive cd4 - positive , alpha - beta t cell abnormal proportion of naive thymus - derived cd4 - positive , alpha - beta t cells birth defect that cause a hole in the innermost layer at the back of the eye birth defect that causes a hole in the innermost layer at the back of the eye cone - shaped end part of long bone fuse within their wide portion of wide bone cone - shaped end part of long bone fused within their wide portion of wide bone decrease in size of the outer layer of the brain due to loss of brain cell decrease in size of the outer layer of the brain due to loss of brain cells decrease proportion effector memory cd8 - positive , alpha - beta t cell , terminally differentiate decreased proportion effector memory cd8 - positive , alpha - beta t cells , terminally differentiated decreased proportion of naive thymus - derive cd4 - positive , alpha - beta t cell decreased proportion of naive thymus - derived cd4 - positive , alpha - beta t cells elevate proportion of naive thymus - derive cd8 - positive , alpha - beta t cell elevated proportion of naive thymus - derived cd8 - positive , alpha - beta t cells focal impair awareness autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomenon focal impaired awareness autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena increase proportion of naive thymus - derive cd4 - positive , alpha - beta t cell increased proportion of naive thymus - derived cd4 - positive , alpha - beta t cells reduce proportion of naive thymus - derive cd8 - positive , alpha - beta t cell reduced proportion of naive thymus - derived cd8 - positive , alpha - beta t cells abnormal proportion of effector memory cd8 - positive , alpha - beta t cell , terminally differentiate abnormal proportion of effector memory cd8 - positive , alpha - beta t cells , terminally differentiated elevate proportion of cd4 - negative , cd8 - negative , alpha - beta regulatory t cell elevated proportion of cd4 - negative , cd8 - negative , alpha - beta regulatory t cells increase proportion of effector memory cd8 - positive , alpha - beta t cell , terminally differentiate increased proportion of effector memory cd8 - positive , alpha - beta t cells , terminally differentiated reduce proportion of cd4 - negative , cd8 - negative , alpha - beta regulatory t cell reduced proportion of cd4 - negative , cd8 - negative , alpha - beta regulatory t cells increased number of cd4 - / cd8 - t cell express alpha / beta t - cell receptor increased number of cd4 - / cd8 - t cells expressing alpha / beta t - cell receptors complete or near - complete absence of specific antibody response to haemophilus influenzae type b ( hib ) vaccine anti - alpha - amino - 3 - hydroxy - 5 - methyl - 4 - isoxazolepropionic acid receptor antibody