query
stringlengths
23
387
cuis
sequence
Male child, malformations at birth, midfacial retraction with a deep groove under the eyes, and hypertelorism, short nose with a low nasal bridge and large lowset ears, wide mouth and retrognathia, Hypertrichosis with bright reddish hair and a median frontal cutaneous angioma, short neck with redundant skin, Bilateral inguinal hernias, hypospadias with a megameatus, and cryptorchidism
[ "c0265227" ]
name of this rash caused by corynebacterium minutissimum
[ "c0014752" ]
diagnosis for dementing syndrome characterized primarily by impairment of interpersonal and executive function
[ "c0338451" ]
diagnosis associated with an increase in serum creatinine concentration by 20% following an angiotensin-converting enzyme inhibitor
[ "c0035067", "c0035066" ]
cause of coronary arteritis in children
[ "c0026691" ]
physical examination hallmark of endophthalmitis
[ "c0020641" ]
agent causing conjunctivitis and umbilicated papular lesions on lid margins
[ "c0026393" ]
cause of red, hot, painful ears and saddle nose deformity
[ "c0032453" ]
most common sign of renal cancer
[ "c0018965" ]
metabolic condition that can set off airport metal detector
[ "c0018995" ]
anaphylactic condition associated with c1-esterase inhibitor gene (final jeopardy)
[ "c0019243" ]
light-colored iris is a risk factor for this eye disorder in older adults
[ "c0242383" ]
most common cause of palpable pulsus bisferiens
[ "c0003504", "c0155568, c0264774, " ]
multiple spinal tumours, skin tumours
[ "c0027831", "c0162678, c0027832, c0162678, c0220695, " ]
in addition to cataracts, eye disorder caused by uv light
[ "c0242383" ]
wheeze wt loss, ANCA, haemoptysis, haematuria
[ "c0008728" ]
diagnosis confirmed by presence of these cells
[ "c0085166" ]
shock syndrome caused by bacterial exotoxins that act as superantigen
[ "c0600327" ]
probable poisoning responsible for "mad as a hatter" syndrome in alice in wonderland
[ "c0025427" ]
recurrent unilateral retro-orbital headache with remissions and relapses
[ "c0009088" ]
a psoriasis-like skin lesion on palms and soles associated with reactive arthritis
[ "c0022594", "c0022581" ]
eponym for acute pericarditis 2 weeks after myocardial infarction
[ "c0152107" ]
cancer syndrome characterized by thousands of colonic polyps
[ "c0032580" ]
infection associated with "sulfur granules" in draining sinuses
[ "c0001261" ]
syndrome characterized by invasion of rem sleep into wakefulness
[ "c0027404" ]
fever, anterior mediastinal mass and central necrosis
[ "c0024299", "c0598798" ]
adrenal condition can be associated with a falsely abnormal cosyntropin stimulation test
[ "c0001403" ]
teenager, girl, hypotonia, dehydration, acidosis, massive ketonuria, hyperammonemia
[ "c0268583" ]
disease associated with absent marrow myeloid progenitor cells and stem cells
[ "c0002874" ]
most likely diagnosis causing generalized pruritus in the setting of inflammatory bowel disease
[ "c0566602" ]
most likely tumor syndrome characterized by wheezing, flushing and diarrhea
[ "c0024586" ]
a mass composed of keratinized epithelial debris located in the middle ear
[ "c0008373" ]
new name for wegener's granulomatosis
[ "c3495801" ]
most common cardiac valve abnormality associated with autosomal dominant polycystic kidney disease
[ "c0026267" ]
condition associated with endolymphatic hydrops
[ "c0025281" ]
neurological condition that contraindicates the use of bupropion
[ "c0036572" ]
rheumatic syndrome characterized by painless proximal muscle weakness associated with a proliferative synovitis and the presence of anti-ribonucleoprotein component of extractable nuclear antigen antibody
[ "c0026272" ]
agent responsible for painful vesicular blepharitis
[ "c0019360" ]
disease associated with dysmorphic red blood cells in the urine
[ "c0017658" ]
syndrome characterized by gynecomastia, small testes, and hypergonadotropic hypogonadism
[ "c0022735" ]
diagnosis suggested by anemia, renal insufficiency, and decreased anion-gap
[ "c0026764" ]
syndrome characterized by joint pain, abdominal pain, palpable purpura, and a nephritic sediment
[ "c0034152" ]
hemolytic anemia associated with igm antibodies directed against rbc i/i antigens
[ "c0175816" ]
important cause of carpal tunnel syndrome or arthritis for patients on dialysis > 5 years
[ "c0002726" ]
17 year old, boy, lysinuric protein intolerance, mild restrictive functional impairment, digital clubbing, atypical abdominal and thoracic pain, ground glass attenuation, interlobular septa thickening, moderate restrictive ventilatory defect, mild anemia, thrombocytopenia, increase in lactate dehydrogenase
[ "c0034050", "c1970472" ]
eponym for changes seen in pip joints
[ "c0263780" ]
syndrome characterized by temperature greater 100.4 f, heart rate greater than 90/min, respiration rate greater than 20/min arterial blood pco2 less than 32 mm hg, leukocyte count greater than 12,000/ul
[ "c0242966" ]
most common benign tumor of the liver
[ "c0018916" ]
underlying thyroid disorder associated with type 1 amiodarone-induced thyrotoxicosis
[ "c0018021" ]
myocardial complication in patients who receive mantle-field radiation for hodgkin's disease
[ "c0027051" ]
common sexual complication associated with ssri therapy
[ "c0234022", "c0029261" ]
besides hereditary spherocytosis, anemia that is associated with spherocytes
[ "c0002880" ]
most likely diagnosis suggested by flow volume loop
[ "c0024117" ]
dementia associated with prominent disinhibition and personality change
[ "c0338451" ]
an obstructive pulmonary disorder associated with connective tissue diseases, especially rheumatoid arthritis
[ "c0006272" ]
percussion of traube's semilunar space is used to detect this condition
[ "c0038002" ]
disease associated with subcutaneous calcium deposits under pressure surfaces
[ "c0011644" ]
vasculitis associated with microaneurysms within the renal vasculature
[ "c0031036" ]
common name of chromosomal abnormality diagnostic of chronic myeloid leukemia
[ "c0031526" ]
arrhythmia characterized by 3 or more morphological patterns of p waves and variable pr intervals
[ "c0221158" ]
cancer associated with hepatitis c
[ "c2239176" ]
valve abnormality associated with autosomal dominant polycystic kidney disease
[ "c0026267" ]
personality disorder characterized by unstable interpersonal relationships, impulsiveness, and self-destructive behaviors
[ "c0006012" ]
vasculitis that is associated with stenosis and aneurysms of the renal artery
[ "c0031036" ]
disease with chest ct findings described as "crazy paving"
[ "c0034050" ]
cardiac arrest, exercise, young
[ "c0007194", "c0949658" ]
most consistent radiographic finding associated with ankylosing spondylitis
[ "c0574960", "c2936444" ]
most common cause of goiter and hypothyroidism in usa
[ "c0677607" ]
the "half-relaxation time" was used to diagnose this endocrine disorder
[ "c0020676" ]
diagnosis associated with ulcerative colitis and disproportionately elevated serum alkaline phosphatase
[ "c0566602" ]
diagnosis associated with ventricular hypertrophy in the absence of increased left ventricular afterload
[ "c0007194", "c0949658" ]
syndrome of fever, chills, and a petechial rash limited to the wrists in the month of april
[ "c0035793" ]
disease associated with decreased anion gap, pancytopenia, metabolic acidosis, and acute renal failure
[ "c0026764" ]
syndrome is associated with these findings (a is current photograph, b is photograph 5 years previously, c is current photograph of upper chest)
[ "c0038833" ]
congenital valve disorder associated with aortic coarctation
[ "c0149630" ]
diagnosis for regular tachycardia associated with intermittent jugular cannon waves
[ "c0042514" ]
eponym for uveitis, parotid enlargement, and fever seen in sarcoidosis
[ "c0042171" ]
hypertension, hypokalemia, and renal potassium wasting
[ "c1384514" ]
pickwickian syndrome refers to this condition
[ "c0031880" ]
skin lesion on soles of feet in reiter's syndrome
[ "c0022594" ]
infection classically associated with hemorrhagic meningitis
[ "c0003175" ]
antiglomerular basement membrane antibodies are present in patients with this vasculitis
[ "c0403529" ]
periodic headache classically found in male smokers
[ "c0009088" ]
hallmark sign of early age-related macular degeneration
[ "c1260959" ]
pulmonary syndrome characterized by recurrent episodes of fever, cough, and dyspnea that begin 4 to 6 hours after antigen exposure with resolution in 24 to 48 hours after antigen avoidance
[ "c0002390" ]
malabsorption syndrome associated with intestinal lymphoma
[ "c0007570" ]
fever, bilateral thigh pain, weakness
[ "c0085399" ]
the most common rhythm disturbance associated with digitalis toxicity
[ "c0151636" ]
rheumatological diagnosis associated with anti-jo-1 antibody
[ "c0011633" ]
klinefelter's karyotype
[ "c0022735" ]
eponym for hereditary disorder of renal carcinoma, pheochromocytoma, and neuroendocrine pancreatic tumors
[ "c0019562" ]
5 year old, boy, congenital malformations, malformations of the hands and feet, bilateral strabismus, small tongue, impaired coordination, expressionless face, prominent forehead, depressed nasal bridge, hypoplastic thumbs, bilateral adactyly of the feet, short stature, severe myopia
[ "c0221060", "c0853240" ]
diagnosis associated with sentinel loop sign and colon cutoff sign
[ "c0001339" ]
disorder associated with nightmares, flashbacks, or intrusive memories
[ "c0038436" ]
disease with chest radiographic findings described as "lower zone emphysema"
[ "c0221757" ]
thyroid disease associated with anti-thyroid peroxidase antibody
[ "c0677607" ]
category of disease causing abnormal rinne test result
[ "c0018777" ]
most common diagnosis for anterior knee pain in young athletic woman
[ "c0877149" ]
peripheral blood smear diagnosis of hereditary anemia
[ "c0037889" ]
most common cause of goiter worldwide
[ "c0342199" ]