id effectiveTime active moduleId conceptId languageCode typeId term caseSignificanceId 2884452019 20040731 1 900000000000207008 410016009 en 900000000000550004 A decrease in lower leg circumference due to recurrent ulceration and fat necrosis causing loss of subcutaneous tissue in a patient with venous stasis disease 900000000000017005 2884452019 20190731 0 900000000000207008 410016009 en 900000000000550004 A decrease in lower leg circumference due to recurrent ulceration and fat necrosis causing loss of subcutaneous tissue in a patient with venous stasis disease 900000000000017005 2884453012 20050731 1 900000000000207008 416118004 en 900000000000550004 Introduction of a substance to the body 900000000000017005 2884454018 20030731 1 900000000000207008 125097000 en 900000000000550004 Domestic goat 900000000000017005 2884455017 20030731 1 900000000000207008 125099002 en 900000000000550004 Domestic sheep species 900000000000017005 2884455017 20110131 0 900000000000207008 125099002 en 900000000000550004 Domestic sheep species 900000000000017005 2884456016 20030731 1 900000000000207008 122868007 en 900000000000550004 An implantation of a staple 900000000000017005 2884457013 20030731 1 900000000000207008 125085001 en 900000000000550004 Equus subspecies 900000000000017005 2884457013 20100731 0 900000000000207008 125085001 en 900000000000550004 Equus subspecies 900000000000017005 2884458015 20030731 1 900000000000207008 125671007 en 900000000000550004 Disruption of continuity of tissue, not necessarily due to external forces; may be due to weakness in the tissue or excessive internal pressures 900000000000017005 2884459011 20030731 1 900000000000207008 127062003 en 900000000000550004 Peripheral blood red cell count above the normal range 900000000000017005 2884460018 20030731 1 900000000000207008 2504000 en 900000000000550004 An autonomic plexus that is a subdivision of the celiac plexus and accompanies the pancreatic arteries 900000000000017005 2884460018 20200131 0 900000000000207008 2504000 en 900000000000550004 An autonomic plexus that is a subdivision of the celiac plexus and accompanies the pancreatic arteries 900000000000017005 2884461019 20030731 1 900000000000207008 1431002 en 900000000000550004 The act or operation of holding, suturing, or fastening in a fixed position 900000000000017005 2884461019 20200131 0 900000000000207008 1431002 en 900000000000550004 The act or operation of holding, suturing, or fastening in a fixed position 900000000000017005 2884462014 20030731 1 900000000000207008 14509009 en 900000000000550004 Radical excision of tissues and organs of a body cavity 900000000000017005 2884463016 20030731 1 900000000000207008 128207002 en 900000000000550004 An autosomal recessive condition characterized by progressive degeneration of the central and peripheral nervous system with enlargement of axons 900000000000017005 2884463016 20200131 0 900000000000207008 128207002 en 900000000000550004 An autosomal recessive condition characterized by progressive degeneration of the central and peripheral nervous system with enlargement of axons 900000000000017005 2884464010 20030731 1 900000000000207008 24184005 en 900000000000550004 A finding of increased blood pressure; not necessarily hypertensive disorder 900000000000017005 2884465011 20090131 1 900000000000207008 129152004 en 900000000000550004 Procedure on back including back of neck. 900000000000017005 2884466012 20030731 1 900000000000207008 24736005 en 900000000000550004 Soft tissues enclosed within orbital region 900000000000017005 2884467015 20030731 1 900000000000207008 12894003 en 900000000000550004 An evaluation of the performance of an organ, organ system, or body part 900000000000017005 2884468013 20030731 1 900000000000207008 26386000 en 900000000000550004 The eye cavity that contains the vitreous 900000000000017005 2884469017 20030731 1 900000000000207008 12763006 en 900000000000550004 A finding of decreased blood pressure; not necessarily hypotensive disorder 900000000000017005 2884470016 20030731 1 900000000000207008 128065004 en 900000000000550004 Congenital portal-systemic shunt in which at least some portal blood perfuses the liver 900000000000017005 2884470016 20210131 0 900000000000207008 128065004 en 900000000000550004 Congenital portal-systemic shunt in which at least some portal blood perfuses the liver 900000000000017005 2884471017 20030731 1 900000000000207008 128489003 en 900000000000550004 Fine granular particles of rock or similar material 900000000000017005 2884472012 20030731 1 900000000000207008 26701009 en 900000000000550004 Sympathetic and parasympathetic ganglia within pelvic plexi 900000000000017005 2884472012 20180731 0 900000000000207008 26701009 en 900000000000550004 Sympathetic and parasympathetic ganglia within pelvic plexi 900000000000017005 2884473019 20030731 1 900000000000207008 2677003 en 900000000000550004 A removal done by peeling, often using a stripper 900000000000017005 2884474013 20030731 1 900000000000207008 127326005 en 900000000000550004 Disorders which occur in animals but not in man 900000000000017005 2884474013 20140131 0 900000000000207008 127326005 en 900000000000550004 Disorders which occur in animals but not in man 900000000000017005 2884475014 20030731 1 900000000000207008 127559009 en 900000000000550004 The structure representing the everted margin of a part 900000000000017005 2884476010 20030731 1 900000000000207008 22649008 en 900000000000550004 Dermatitis caused by exposure to sunlight 900000000000017005 2884476010 20140131 0 900000000000207008 22649008 en 900000000000550004 Dermatitis caused by exposure to sunlight 900000000000017005 2884477018 20030731 1 900000000000207008 128533009 en 900000000000550004 Congenital small optic disc with normal visual function 900000000000017005 2884478011 20030731 1 900000000000207008 24981001 en 900000000000550004 An autonomic plexus that branches from the inferior mesenteric plexus; accompanies superior rectal artery to rectum 900000000000017005 2884478011 20120731 0 900000000000207008 24981001 en 900000000000550004 An autonomic plexus that branches from the inferior mesenteric plexus; accompanies superior rectal artery to rectum 900000000000017005 2884479015 20030731 1 900000000000207008 13559005 en 900000000000550004 A continuation of the aortic plexus that leads to the right and left hypogastric nerves 900000000000017005 2884480017 20030731 1 900000000000207008 128115005 en 900000000000550004 Any inherited disorder mimicking von Willebrand disease but lacking mutation at the VWF locus 900000000000017005 2884481018 20030731 1 900000000000207008 14766002 en 900000000000550004 Extraction using negative pressure 900000000000017005 2884482013 20030731 1 900000000000207008 128261004 en 900000000000550004 Includes pulmonary trunk and left and right main pulmonary arteries 900000000000017005 2884483015 20030731 1 900000000000207008 128419007 en 900000000000550004 Deposition of mineral in normally non mineralized tissue 900000000000017005 2884484014 20030731 1 900000000000207008 16076005 en 900000000000550004 A legal order to dispense and possibly prepare a substance or physical object 900000000000017005 2884485010 20100131 1 900000000000207008 13810000 en 900000000000550004 Dislocation present at birth 900000000000017005 2884486011 20030731 1 900000000000207008 15440009 en 900000000000550004 Amputation through a joint without cutting of bone 900000000000017005 2884487019 20030731 1 900000000000207008 128045006 en 900000000000550004 Inflammation that may involve the skin and or subcutaneous tissues, and or muscle 900000000000017005 2884487019 20140131 0 900000000000207008 128045006 en 900000000000550004 Inflammation that may involve the skin and or subcutaneous tissues, and or muscle 900000000000017005 2884488012 20030731 1 900000000000207008 128553008 en 900000000000550004 A vein located in the antecubital fossa 900000000000017005 2884489016 20030731 1 900000000000207008 14734007 en 900000000000550004 Procedure related to the administrative aspects of health care, including admission, discharge, transfer, disposition, referral, business, legal, financial, quality review, peer review, data reporting, notification, and so forth 900000000000017005 2884490013 20030731 1 900000000000207008 15807005 en 900000000000550004 A financial procedure that assesses a financial situation 900000000000017005 2884491012 20030731 1 900000000000207008 128176002 en 900000000000550004 Skin lesion, greater than 2 cm, flat, colored; differs from a macule only in size 900000000000017005 2884492017 20030731 1 900000000000207008 128177006 en 900000000000550004 Skin lesion, greater than 2 cm, flat, colored; differs from a macule only in size 900000000000017005 2884492017 20200131 0 900000000000207008 128177006 en 900000000000550004 Skin lesion, greater than 2 cm, flat, colored; differs from a macule only in size 900000000000017005 2884493010 20030731 1 900000000000207008 15398002 en 900000000000550004 An autonomic plexus that is a subdivision of the aortic plexus, or derived from it, that accompanies the ovarian artery 900000000000017005 2884494016 20030731 1 900000000000207008 1366004 en 900000000000550004 An administration into the respiratory tract by inspiration 900000000000017005 2884495015 20030731 1 900000000000207008 14792009 en 900000000000550004 An injection of indelible pigments 900000000000017005 2884496019 20030731 1 900000000000207008 128105004 en 900000000000550004 Includes true von Willebrand disease with mutation at the VWF locus, as well as mimicking disorders with other mutations (pseudo VWD) and acquired von Willebrand syndrome 900000000000017005 2884497011 20030731 1 900000000000207008 128180007 en 900000000000550004 Appendix which is oriented posteriorly and inferiorly in the pelvic cavity 900000000000017005 2884498018 20030731 1 900000000000207008 161006 en 900000000000550004 Injury due to increased heat 900000000000017005 2884499014 20030731 1 900000000000207008 15420002 en 900000000000550004 Refitting a denture by replacing the denture base while keeping the occlusal relationship of the teeth the same 900000000000017005 2884500017 20090731 1 900000000000207008 13930000 en 900000000000550004 Detection of protein in a location it should not normally be present 900000000000017005 2884500017 20200131 0 900000000000207008 13930000 en 900000000000550004 Detection of protein in a location it should not normally be present 900000000000017005 2884501018 20030731 1 900000000000207008 19359003 en 900000000000550004 A canal that runs from optic disc to lens that contains the hyaloid artery in the fetus 900000000000017005 2884502013 20030731 1 900000000000207008 34896006 en 900000000000550004 Making a cut in something 900000000000017005 2884503015 20030731 1 900000000000207008 21684005 en 900000000000550004 An autonomic plexus that is derived from the celiac plexus, more specifically renal and hypogastric plexi, that accompanies the ureteric artery to the ureter 900000000000017005 2884503015 20200131 0 900000000000207008 21684005 en 900000000000550004 An autonomic plexus that is derived from the celiac plexus, more specifically renal and hypogastric plexi, that accompanies the ureteric artery to the ureter 900000000000017005 2884504014 20030731 1 900000000000207008 19207007 en 900000000000550004 Skilled dextrous action of the hands directly applied to a body part 900000000000017005 2884504014 20180131 0 900000000000207008 19207007 en 900000000000550004 Skilled dextrous action of the hands directly applied to a body part 900000000000017005 2884505010 20030731 1 900000000000207008 20418004 en 900000000000550004 Excision of a wedge-shaped piece of tissue (often but not necessarily for diagnostic examination) 900000000000017005 2884506011 20030731 1 900000000000207008 34109009 en 900000000000550004 An autonomic plexus accompanying the femoral artery and derived from the iliac plexus 900000000000017005 2884507019 20030731 1 900000000000207008 32750006 en 900000000000550004 An exploration using the sense of sight, done with the eyes 900000000000017005 2884508012 20030731 1 900000000000207008 19384000 en 900000000000550004 High-pitched diastolic murmur heard best at left sternal border, associated with pulmonary valve insufficiency 900000000000017005 2884509016 20030731 1 900000000000207008 19168005 en 900000000000550004 Infection associated with hospitalization, not present or incubating prior to admission, but generally occurring more than 72 hours after admission 900000000000017005 2884510014 20030731 1 900000000000207008 2044003 en 900000000000550004 Nerves running from uterovaginal plexus to vagina that are both sympathetic and parasympathetic 900000000000017005 2884511013 20030731 1 900000000000207008 17630002 en 900000000000550004 A subdivision of inferior hypogastric plexus, maybe derived from it, that supplies nerves to the rectum 900000000000017005 2884512018 20030731 1 900000000000207008 18115005 en 900000000000550004 Deposition of calcium in normally non calcified tissue 900000000000017005 2884513011 20030731 1 900000000000207008 20364005 en 900000000000550004 Altered sense of hearing, other than simple decreased hearing or deafness 900000000000017005 2884514017 20030731 1 900000000000207008 31808004 en 900000000000550004 Lymph node within the lung 900000000000017005 2884515016 20070131 1 900000000000207008 17784009 en 900000000000550004 Hydrocarbon solvents with flash points above 38 degrees C 900000000000017005 2884516015 20030731 1 900000000000207008 23680005 en 900000000000550004 Disorder occurring at the site of insertion of tendons or ligaments into bones or joint capsules 900000000000017005 2884517012 20090131 1 900000000000207008 26029002 en 900000000000550004 Mild disease manifests factor VIII activity of greater than 5% of normal 900000000000017005 2884518019 20030731 1 900000000000207008 19130008 en 900000000000550004 A structure damaged by an external force 900000000000017005 2884519010 20030731 1 900000000000207008 19484001 en 900000000000550004 An incision that relieves abnormal pressure on a structure 900000000000017005 2884520016 20030731 1 900000000000207008 21143006 en 900000000000550004 Traumatic hemorrhage into heel that persists as black dots 900000000000017005 2884520016 20200131 0 900000000000207008 21143006 en 900000000000550004 Traumatic hemorrhage into heel that persists as black dots 900000000000017005 2884521017 20030731 1 900000000000207008 27925004 en 900000000000550004 A 1 to 5 cm firm lesion raised above the surface of the surrounding skin; differs from a papule only in size 900000000000017005 2884521017 20180731 0 900000000000207008 27925004 en 900000000000550004 A 1 to 5 cm firm lesion raised above the surface of the surrounding skin; differs from a papule only in size 900000000000017005 2884522012 20030731 1 900000000000207008 28644007 en 900000000000550004 Excision of an enterocele, a posterior vaginal hernia 900000000000017005 2884523019 20030731 1 900000000000207008 25694009 en 900000000000550004 A small, solid lesion, less than 1 cm in diameter, raised above the surface of the surrounding skin and hence palpable 900000000000017005 2884524013 20030731 1 900000000000207008 367522007 en 900000000000550004 Inflammation of skin adjacent to an infectious site by autoinnoculation; appears as eczematous plaque with or without vesicles 900000000000017005 2884524013 20150131 0 900000000000207008 367522007 en 900000000000550004 Inflammation of skin adjacent to an infectious site by autoinnoculation; appears as eczematous plaque with or without vesicles 900000000000017005 2884525014 20090731 1 900000000000207008 2704003 en 900000000000550004 Any disease of sudden onset AND/OR short duration 900000000000017005 2884526010 20030731 1 900000000000207008 2802005 en 900000000000550004 A dilation and stretching done by manipulation 900000000000017005 2884527018 20030731 1 900000000000207008 3100007 en 900000000000550004 Portion of tooth exposed above gums, the part above the clinical root 900000000000017005 2884528011 20030731 1 900000000000207008 27782009 en 900000000000550004 A transplantation where the donor and recipient spots are part of genetically identical organisms 900000000000017005 2884529015 20030731 1 900000000000207008 27411008 en 900000000000550004 A destruction of tissue by burning or searing with a thermal instrument, an electric current, or a caustic substance 900000000000017005 2884530013 20030731 1 900000000000207008 27941003 en 900000000000550004 Orbital structure; a fibrous ring that is the origin of the rectus muscles 900000000000017005 2884531012 20030731 1 900000000000207008 30623001 en 900000000000550004 A sudden pain, usually sharp, occurring during movement, or exacerbated by movement, and prompting cessation of movement 900000000000017005 2884532017 20030731 1 900000000000207008 29064005 en 900000000000550004 A chart-related administrative procedure that involves opening the chart 900000000000017005 2884533010 20030731 1 900000000000207008 27706005 en 900000000000550004 One of the great vessels draining venous blood from the left lung 900000000000017005 2884534016 20030731 1 900000000000207008 34810001 en 900000000000550004 The part of the oral cavity external to gums and teeth and internal to cheeks and lips 900000000000017005 2884535015 20030731 1 900000000000207008 35328001 en 900000000000550004 An unpaired autonomic plexus that is part of the celiac plexus that lies on the hepatic artery and its branches in the liver 900000000000017005 2884535015 20200131 0 900000000000207008 35328001 en 900000000000550004 An unpaired autonomic plexus that is part of the celiac plexus that lies on the hepatic artery and its branches in the liver 900000000000017005 2884536019 20030731 1 900000000000207008 32615007 en 900000000000550004 A mid-to-late diastolic murmur heard best at the cardiac apex, heard in cases of aortic insufficiency 900000000000017005 2884537011 20090131 1 900000000000207008 33344008 en 900000000000550004 Moderate disease manifests factor VIII activity of 2% to 5% of normal 900000000000017005 2884538018 20030731 1 900000000000207008 33622007 en 900000000000550004 A spontaneous cardiomyopathy of unknown etiology that affects healthy poultry 900000000000017005 2884538018 20140131 0 900000000000207008 33622007 en 900000000000550004 A spontaneous cardiomyopathy of unknown etiology that affects healthy poultry 900000000000017005 2884539014 20030731 1 900000000000207008 32350008 en 900000000000550004 Delayed transfer flap-a flap graft that is partially raised from the donor bed to permit collateral circulation of the pedicle 900000000000017005 2884539014 20220228 0 900000000000207008 32350008 en 900000000000550004 Delayed transfer flap-a flap graft that is partially raised from the donor bed to permit collateral circulation of the pedicle 900000000000017005 2884540011 20030731 1 900000000000207008 33415007 en 900000000000550004 Shell-shaped structure of lateral nasal cavity above the superior nasal turbinate, including bone and covering mucous membrane 900000000000017005 2884541010 20030731 1 900000000000207008 30021000 en 900000000000550004 Lower extremity from knee to ankle 900000000000017005 2884541010 20200131 0 900000000000207008 30021000 en 900000000000550004 Lower extremity from knee to ankle 900000000000017005 2884542015 20030731 1 900000000000207008 31201001 en 900000000000550004 Infection of perianal region of skin following abrasion, which is named for the occurrence in horsemen 900000000000017005 2884543013 20030731 1 900000000000207008 29923002 en 900000000000550004 A scraping away of thin sections 900000000000017005 2884544019 20030731 1 900000000000207008 339008 en 900000000000550004 A fluid-filled, raised, often translucent lesion, greater than 1 cm in diameter 900000000000017005 2884545018 20030731 1 900000000000207008 3324009 en 900000000000550004 A photocoagulation using a laser beam 900000000000017005 2884546017 20030731 1 900000000000207008 29836001 en 900000000000550004 The body part defined by the hip joint and surrounding structures, including the region from the iliac crest to the thigh 900000000000017005 2884547014 20030731 1 900000000000207008 32166003 en 900000000000550004 A history taken by a self-administered questionnaire 900000000000017005 2884548016 20030731 1 900000000000207008 31716004 en 900000000000550004 Category of human frozen plasma products, regardless of time from donation to freezing 900000000000017005 2884549012 20030731 1 900000000000207008 3137001 en 900000000000550004 Implantation that is being revised 900000000000017005 2884549012 20210731 0 900000000000207008 3137001 en 900000000000550004 Implantation that is being revised 900000000000017005 2884550012 20030731 1 900000000000207008 32998005 en 900000000000550004 Repair of vesicovaginal fistula 900000000000017005 2884551011 20090131 1 900000000000207008 33308003 en 900000000000550004 Disorder of back including back of neck. 900000000000017005 2884552016 20030731 1 900000000000207008 30110007 en 900000000000550004 A depression of the anterior surface of the vitreous body where the lens fits 900000000000017005 2884553014 20030731 1 900000000000207008 32485007 en 900000000000550004 Performance of the steps necessary to admit a patient to a hospital 900000000000017005 2884554015 20030731 1 900000000000207008 33553000 en 900000000000550004 An unmarried person whose spouse has died 900000000000017005 2884555019 20030731 1 900000000000207008 3377004 en 900000000000550004 Ridge on the lateral internal nasal wall due to the ethmoidal crest of the maxilla 900000000000017005 2884556018 20030731 1 900000000000207008 40983000 en 900000000000550004 Upper extremity between shoulder and elbow 900000000000017005 2884556018 20200131 0 900000000000207008 40983000 en 900000000000550004 Upper extremity between shoulder and elbow 900000000000017005 2884557010 20090731 1 900000000000207008 3720003 en 900000000000550004 Detection of hemoglobin in a location it should not normally be present 900000000000017005 2884557010 20200131 0 900000000000207008 3720003 en 900000000000550004 Detection of hemoglobin in a location it should not normally be present 900000000000017005 2884558017 20040131 1 900000000000207008 53889007 en 900000000000550004 A cataract involving the nucleus of the lens 900000000000017005 2884559013 20030731 1 900000000000207008 53892006 en 900000000000550004 Nerves in the pelvis that connect the superior hypogastric plexus to the inferior hypogastric plexus 900000000000017005 2884560015 20030731 1 900000000000207008 40587007 en 900000000000550004 Pereyra procedure: Needle suspension and suture of bladder neck for stress incontinence 900000000000017005 2884561016 20030731 1 900000000000207008 40617009 en 900000000000550004 An assistance of respiration 900000000000017005 2884562011 20030731 1 900000000000207008 3789000 en 900000000000550004 Endocrine cell of the gut 900000000000017005 2884563018 20030731 1 900000000000207008 3700004 en 900000000000550004 Intracapsular extraction of cataract using an erysiphake—an instrument used to aspirate a cataract 900000000000017005 2884563018 20200131 0 900000000000207008 3700004 en 900000000000550004 Intracapsular extraction of cataract using an erysiphake—an instrument used to aspirate a cataract 900000000000017005 2884564012 20030731 1 900000000000207008 51289009 en 900000000000550004 Entire digestive tract including mouth, esophagus, stomach, and intestines 900000000000017005 2884564012 20200131 0 900000000000207008 51289009 en 900000000000550004 Entire digestive tract including mouth, esophagus, stomach, and intestines 900000000000017005 2884565013 20030731 1 900000000000207008 37931006 en 900000000000550004 A listening to spontaneously generated body sounds 900000000000017005 2884566014 20030731 1 900000000000207008 3791008 en 900000000000550004 Right shift of the hemoglobin oxygen dissociation curve due to lower pH with increased carbon dioxide 900000000000017005 2884566014 20200131 0 900000000000207008 3791008 en 900000000000550004 Right shift of the hemoglobin oxygen dissociation curve due to lower pH with increased carbon dioxide 900000000000017005 2884567017 20030731 1 900000000000207008 35764002 en 900000000000550004 The four ventricles of the brain, including the two lateral ventricles, the third ventricle, and the fourth ventricle 900000000000017005 2884568010 20030731 1 900000000000207008 39250009 en 900000000000550004 A removal of an anatomic or pathologic structure in entirety without breakage 900000000000017005 2884569019 20030731 1 900000000000207008 36576007 en 900000000000550004 An injection that is continuous 900000000000017005 2884569019 20210731 0 900000000000207008 36576007 en 900000000000550004 An injection that is continuous 900000000000017005 2884570018 20030731 1 900000000000207008 38954004 en 900000000000550004 Tooth adapted to shear flesh 900000000000017005 2884570018 20140131 0 900000000000207008 38954004 en 900000000000550004 Tooth adapted to shear flesh 900000000000017005 2884571019 20030731 1 900000000000207008 38809004 en 900000000000550004 Vein located within the thorax 900000000000017005 2884572014 20030731 1 900000000000207008 43671000 en 900000000000550004 Nerves that supply sympathetic and parasympathetic innervation to erectile tissue of clitoris; derived from uterovaginal plexus 900000000000017005 2884573016 20030731 1 900000000000207008 43802008 en 900000000000550004 A cauterization done with thermal energy 900000000000017005 2884573016 20200131 0 900000000000207008 43802008 en 900000000000550004 A cauterization done with thermal energy 900000000000017005 2884574010 20030731 1 900000000000207008 44764005 en 900000000000550004 Crowning—preparation and covering of the natural crown of a tooth with a veneer consisting of a metal, plastic resin, or porcelain or combinations 900000000000017005 2884574010 20200131 0 900000000000207008 44764005 en 900000000000550004 Crowning—preparation and covering of the natural crown of a tooth with a veneer consisting of a metal, plastic resin, or porcelain or combinations 900000000000017005 2884575011 20040731 1 900000000000207008 44808001 en 900000000000550004 Abnormality in rhythm of heartbeat, including rate, regularity, and/or sequence of activation abnormalities 900000000000017005 2884575011 20140131 0 900000000000207008 44808001 en 900000000000550004 Abnormality in rhythm of heartbeat, including rate, regularity, and/or sequence of activation abnormalities 900000000000017005 2884576012 20030731 1 900000000000207008 42965003 en 900000000000550004 A chart related administrative procedure done by the medical records department 900000000000017005 2884577015 20090131 1 900000000000207008 42786005 en 900000000000550004 Localized swelling of the flexor pollicis longus muscle tendon that limits excursion within the tendon sheath and causes the tendon to be caught under the flexor tendon sheath, which typically causes a snap, pop or click when it releases with pressure. 900000000000017005 2884578013 20030731 1 900000000000207008 4150005 en 900000000000550004 An autonomic plexus that is a superior subdivision of the aortic plexus that runs anterior to the aorta at the level of the celiac trunk T12; contains celiac ganglia and most visceral afferents pass though it 900000000000017005 2884578013 20200131 0 900000000000207008 4150005 en 900000000000550004 An autonomic plexus that is a superior subdivision of the aortic plexus that runs anterior to the aorta at the level of the celiac trunk T12; contains celiac ganglia and most visceral afferents pass though it 900000000000017005 2884579017 20030731 1 900000000000207008 42842009 en 900000000000550004 Cardiac murmur with no significant crescendo or decrescendo 900000000000017005 2884580019 20030731 1 900000000000207008 44667005 en 900000000000550004 Skin region including some skin of finger AND some additional non finger skin 900000000000017005 2884581015 20030731 1 900000000000207008 36777000 en 900000000000550004 Removal of devitalized tissue 900000000000017005 2884581015 20211130 0 900000000000207008 36777000 en 900000000000550004 Removal of devitalized tissue 900000000000017005 2884582010 20030731 1 900000000000207008 36364006 en 900000000000550004 Two nerves that supply sympathetic and parasympathetic innervation to vascular structures of corpus cavernosum, stimulating erection; derived from prostatic plexus 900000000000017005 2884582010 20180731 0 900000000000207008 36364006 en 900000000000550004 Two nerves that supply sympathetic and parasympathetic innervation to vascular structures of corpus cavernosum, stimulating erection; derived from prostatic plexus 900000000000017005 2884583017 20030731 1 900000000000207008 4365001 en 900000000000550004 Restoring, to the extent possible, the natural anatomical structure 900000000000017005 2884583017 20220228 0 900000000000207008 4365001 en 900000000000550004 Restoring, to the extent possible, the natural anatomical structure 900000000000017005 2884584011 20030731 1 900000000000207008 40015002 en 900000000000550004 Passage of gas by anus 900000000000017005 2884584011 20200131 0 900000000000207008 40015002 en 900000000000550004 Passage of gas by anus 900000000000017005 2884585012 20030731 1 900000000000207008 4116001 en 900000000000550004 A construction of openings or fenestrae 900000000000017005 2884586013 20030731 1 900000000000207008 4592006 en 900000000000550004 A ‘galloping’ sound on cardiac auscultation because of an abnormally audible fourth heart sound 900000000000017005 2884586013 20150131 0 900000000000207008 4592006 en 900000000000550004 A ‘galloping’ sound on cardiac auscultation because of an abnormally audible fourth heart sound 900000000000017005 2884587016 20030731 1 900000000000207008 47290002 en 900000000000550004 Junglefowl 900000000000017005 2884587016 20150131 0 900000000000207008 47290002 en 900000000000550004 Junglefowl 900000000000017005 2884588014 20030731 1 900000000000207008 4905007 en 900000000000550004 Autonomic plexus with ganglia derived from inferior hypogastric plexus, that supplies uterus, vagina, ovary, erectile tissue of vestibule, and urethra 900000000000017005 2884589018 20030731 1 900000000000207008 46809006 en 900000000000550004 Excision of the fibrous, cartilaginous, or bony fusion of two or more of the tarsal bones 900000000000017005 2884590010 20030731 1 900000000000207008 47881004 en 900000000000550004 An autonomic plexus formed by the junction of the hypogastric nerve and the splanchnic nerve on each side; supplies pelvic viscera 900000000000017005 2884591014 20030731 1 900000000000207008 44248001 en 900000000000550004 Abducent nerve paralysis with contralateral hemiparesis 900000000000017005 2884592019 20030731 1 900000000000207008 4764004 en 900000000000550004 Jet ventilation phasically directs a high-velocity jet of humidified gas into the endotracheal tube at rapid frequencies, entraining additional fresh gas during insufflation 900000000000017005 2884593012 20030731 1 900000000000207008 49412003 en 900000000000550004 An autonomic plexus that is a subdivision of the celiac plexus that accompanies the adrenal artery 900000000000017005 2884593012 20200131 0 900000000000207008 49412003 en 900000000000550004 An autonomic plexus that is a subdivision of the celiac plexus that accompanies the adrenal artery 900000000000017005 2884594018 20030731 1 900000000000207008 46947000 en 900000000000550004 A manipulation done by a chiropractor 900000000000017005 2884595017 20080731 1 900000000000207008 47975008 en 900000000000550004 The root of the tongue is the posterior third, the dorsal surface of which forms the anterior wall of the oropharynx; it rests on the floor of the mouth, and the nerves and vessels that supply the intrinsic muscles of the tongue traverse it. 900000000000017005 2884596016 20030731 1 900000000000207008 48333001 en 900000000000550004 Generic burn injury, including that due to excessive heat, as well as cauterization, friction, electricity, radiation, sunlight, and other causes 900000000000017005 2884596016 20200131 0 900000000000207008 48333001 en 900000000000550004 Generic burn injury, including that due to excessive heat, as well as cauterization, friction, electricity, radiation, sunlight, and other causes 900000000000017005 2884597013 20030731 1 900000000000207008 49549006 en 900000000000550004 The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways 900000000000017005 2884598015 20030731 1 900000000000207008 48563009 en 900000000000550004 An autonomic plexus that is a subdivision of the celiac plexus that accompanies the renal artery 900000000000017005 2884598015 20200131 0 900000000000207008 48563009 en 900000000000550004 An autonomic plexus that is a subdivision of the celiac plexus that accompanies the renal artery 900000000000017005 2884599011 20030731 1 900000000000207008 47002008 en 900000000000550004 A vesicle filled with leukocytes 900000000000017005 2884600014 20030731 1 900000000000207008 48537004 en 900000000000550004 A construction of a shunt using either biologic or synthetic material 900000000000017005 2884601013 20090131 1 900000000000207008 102482005 en 900000000000550004 Episodic childhood musculoskeletal pain, usually brief (a few minutes), intense, nocturnal, involving both legs, with no identifiable cause or sequelae. 900000000000017005 2884602018 20030731 1 900000000000207008 102704008 en 900000000000550004 Fatty acid with fewer than 10 carbon atoms 900000000000017005 2884603011 20030731 1 900000000000207008 102705009 en 900000000000550004 Fatty acid with 10 to 14 carbon atoms 900000000000017005 2884604017 20030731 1 900000000000207008 102706005 en 900000000000550004 Fatty acid with 10 or more carbon atoms 900000000000017005 2884605016 20030731 1 900000000000207008 169283005 en 900000000000550004 An observation that generates a recording made from energy of the light spectrum 900000000000017005 2884606015 20030731 1 900000000000207008 103741002 en 900000000000550004 An inspection by the passage of light through tissues or a body cavity 900000000000017005 2884607012 20030731 1 900000000000207008 107724000 en 900000000000550004 Performance of the steps necessary to transfer a patient between locations of care delivery 900000000000017005 2884608019 20030731 1 900000000000207008 184034005 en 900000000000550004 Range of sound intensity between the minimum audible intensity and the auditory pain threshold 900000000000017005 2884609010 20030731 1 900000000000207008 107733003 en 900000000000550004 Introduction of object AND/OR substance into or onto body, including injection, implantation, infusion, perfusion, transfusion, irrigation, instillation, insertion, placement, replacement, packing, intubation, catheterization, cannulation 900000000000017005 2884609010 20120731 0 900000000000207008 107733003 en 900000000000550004 Introduction of object AND/OR substance into or onto body, including injection, implantation, infusion, perfusion, transfusion, irrigation, instillation, insertion, placement, replacement, packing, intubation, catheterization, cannulation 900000000000017005 2884610017 20030731 1 900000000000207008 106190000 en 900000000000550004 Known to have allergic reactions to particular substance(s) 900000000000017005 2884611018 20030731 1 900000000000207008 105594005 en 900000000000550004 Burn injury due to excessive heat 900000000000017005 2884612013 20030731 1 900000000000207008 189411005 en 900000000000550004 Antemortem blood clot in the cardiovascular system 900000000000017005 2884613015 20030731 1 900000000000207008 107727007 en 900000000000550004 An administrative procedure that involves a medical record chart 900000000000017005 2884614014 20030731 1 900000000000207008 107728002 en 900000000000550004 An evaluation of a medical chart by a health care professional 900000000000017005 2884615010 20030731 1 900000000000207008 197157006 en 900000000000550004 An observation that generates a recording made from energy of the light spectrum 900000000000017005 2884615010 20150731 0 900000000000207008 197157006 en 900000000000550004 An observation that generates a recording made from energy of the light spectrum 900000000000017005 2884616011 20030731 1 900000000000207008 108372004 en 900000000000550004 Any bone that is part of the tarsus 900000000000017005 2884617019 20030731 1 900000000000207008 109478007 en 900000000000550004 Ameliogenesis imperfecta, mental retardation, and epileptic seizures 900000000000017005 2884617019 20150131 0 900000000000207008 109478007 en 900000000000550004 Ameliogenesis imperfecta, mental retardation, and epileptic seizures 900000000000017005 2884618012 20090131 1 900000000000207008 228244001 en 900000000000550004 Any element of clothing that is worn on one's head 900000000000017005 2884619016 20080731 1 900000000000207008 109750005 en 900000000000550004 Noncarious lesion, where tooth is fatigued, flexed, and deformed by biomechanical loading of tooth, primarily at the cervical region. Usually wedge-shaped lesions with sharp-line angles, but sometimes circular invaginations on occlusal surfaces. 900000000000017005 2884620010 20030731 1 900000000000207008 111030006 en 900000000000550004 A form of diffuse palmoplantar keratoderma that occurs between the ages of 5 and 15 and may be associated with the subsequent development of esophageal cancer 900000000000017005 2884620010 20200131 0 900000000000207008 111030006 en 900000000000550004 A form of diffuse palmoplantar keratoderma that occurs between the ages of 5 and 15 and may be associated with the subsequent development of esophageal cancer 900000000000017005 2884621014 20030731 1 900000000000207008 110986000 en 900000000000550004 A keratotic cutaneous polyp containing abundant connective tissue 900000000000017005 2884621014 20190731 0 900000000000207008 110986000 en 900000000000550004 A keratotic cutaneous polyp containing abundant connective tissue 900000000000017005 2884622019 20030731 1 900000000000207008 239332003 en 900000000000550004 An immune system procedure that observes for evidence of hypersensitivity 900000000000017005 2884622019 20150731 0 900000000000207008 239332003 en 900000000000550004 An immune system procedure that observes for evidence of hypersensitivity 900000000000017005 2884623012 20030731 1 900000000000207008 11140008 en 900000000000550004 An artificial respiration done manually 900000000000017005 2884624018 20030731 1 900000000000207008 111029001 en 900000000000550004 A developmental disorder characterized by keratotic papules of skin of hands and soles with disorganization of dermal elastic fibers that does not appear to be due to trauma or sunlight 900000000000017005 2884624018 20200131 0 900000000000207008 111029001 en 900000000000550004 A developmental disorder characterized by keratotic papules of skin of hands and soles with disorganization of dermal elastic fibers that does not appear to be due to trauma or sunlight 900000000000017005 2884625017 20030731 1 900000000000207008 109778006 en 900000000000550004 Symmetric excoriation of the hard palate often due to sucking in infants 900000000000017005 2884626016 20030731 1 900000000000207008 109788007 en 900000000000550004 A fibroma of the gums with calcification and possibly ossification 900000000000017005 2884627013 20030731 1 900000000000207008 109817001 en 900000000000550004 Hernia of part of the intestinal tract through the intersigmoid recess or fossa 900000000000017005 2884628015 20030731 1 900000000000207008 109361004 en 900000000000550004 A cyst composed of maxillary sinus epithelium along a surgical line of entry 900000000000017005 2884629011 20050131 1 900000000000207008 246464006 en 900000000000550004 Any function or property that is not mainly morphologic or structural, including both measurable and observable features and physiologic actions 900000000000017005 2884630018 20030731 1 900000000000207008 112928008 en 900000000000550004 A method of external massage of the uterus to promote delivery of the placenta 900000000000017005 2884630018 20190731 0 900000000000207008 112928008 en 900000000000550004 A method of external massage of the uterus to promote delivery of the placenta 900000000000017005 2884631019 20030731 1 900000000000207008 112629002 en 900000000000550004 A flat lesion, less than 2 cm in diameter, not raised above the surface of the surrounding skin 900000000000017005 2884632014 20030731 1 900000000000207008 112695004 en 900000000000550004 A repair that unites structures 900000000000017005 2884633016 20100131 1 900000000000207008 238328000 en 900000000000550004 Thoracotomy with a smaller incision than a standard thoracotomy and with minimal or no rib spreading 900000000000017005 2884634010 20030731 1 900000000000207008 112696003 en 900000000000550004 A repair done via manipulation 900000000000017005 2884635011 20090131 1 900000000000207008 257383002 en 900000000000550004 A helmet that is worn as protection for the head in the event of a vehicular accident 900000000000017005 2884636012 20030731 1 900000000000207008 264068005 en 900000000000550004 At location of left laterality and inferior 900000000000017005 2884637015 20030731 1 900000000000207008 113343008 en 900000000000550004 An anatomical structure that consists of the maximal set of organ parts so connected to one another that together they constitute a self-contained unit of macroscopic anatomy, distinct both morphologically and functionally from other such units. Together with other organs, an organ constitutes an organ system or a body part. An organ is divisible into organ parts but not organs (examples: femur, biceps, liver, heart, aorta, sciatic nerve, ovary). 900000000000017005 2884638013 20030731 1 900000000000207008 11421009 en 900000000000550004 Vibration felt on the chest wall, either by examiner or subjective 900000000000017005 2884639017 20030731 1 900000000000207008 255482005 en 900000000000550004 At location of left laterality and superior 900000000000017005 2884640015 20030731 1 900000000000207008 260674002 en 900000000000550004 The flow of an anatomic orifice. The orifice may be an opening such as a valve or stenosis. The direction may be valve retrograde flow (regurgitation) or antegrade flow. 900000000000017005 2884640015 20110131 1 900000000000012004 260674002 en 900000000000550004 The flow of an anatomic orifice. The orifice may be an opening such as a valve or stenosis. The direction may be valve retrograde flow (regurgitation) or antegrade flow. 900000000000017005 2884641016 20070731 1 900000000000207008 115537005 en 900000000000550004 An alcohol obtained from refinement of fusel oil; contains mainly isopentyl alcohol and 2-methyl-1-butanol 900000000000017005 2884642011 20100731 1 900000000000207008 11530004 en 900000000000550004 Diabetes mellitus in which there are frequent, clinically significant fluctuations in blood glucose levels both above and below levels expected to be achieved by available therapies. 900000000000017005 2884642011 20190731 0 900000000000207008 11530004 en 900000000000550004 Diabetes mellitus in which there are frequent, clinically significant fluctuations in blood glucose levels both above and below levels expected to be achieved by available therapies. 900000000000017005 2884643018 20090731 1 900000000000207008 113076002 en 900000000000550004 Measurement of blood glucose in the fasting state and at specific intervals before and after oral or intravenous glucose load to determine the ability to maintain homeostasis of glucose. 900000000000017005 2884644012 20030731 1 900000000000207008 252512005 en 900000000000550004 An immune system procedure that observes for evidence of hypersensitivity 900000000000017005 2884645013 20030731 1 900000000000207008 113011001 en 900000000000550004 An exploration using the sense of touch 900000000000017005 2884646014 20030731 1 900000000000207008 11326003 en 900000000000550004 Part of the pulp of tooth that is within the crown portion of the pulp cavity 900000000000017005 2884647017 20030731 1 900000000000207008 255496004 en 900000000000550004 At location (or vessel branch as in pulmonary vein) of right laterality and inferior 900000000000017005 2884648010 20030731 1 900000000000207008 255499006 en 900000000000550004 At location (or vessel branch as in pulmonary vein) of right laterality and superior 900000000000017005 2884649019 20090131 1 900000000000207008 285695004 en 900000000000550004 Headwear designed to protect against injuries 900000000000017005 2884650019 20100731 1 900000000000207008 290002008 en 900000000000550004 Type I diabetes mellitus in which there are frequent, clinically significant fluctuations in blood glucose levels both above and below levels expected to be achieved by available therapies. 900000000000017005 2884650019 20130731 0 900000000000207008 290002008 en 900000000000550004 Type I diabetes mellitus in which there are frequent, clinically significant fluctuations in blood glucose levels both above and below levels expected to be achieved by available therapies. 900000000000017005 2884651015 20030731 1 900000000000207008 118662001 en 900000000000550004 An administrative legal procedure 900000000000017005 2884652010 20030731 1 900000000000207008 118630004 en 900000000000550004 An incision that separates something into two or more parts 900000000000017005 2884653017 20030731 1 900000000000207008 118760003 en 900000000000550004 A large organ in the thorax, abdomen, or pelvis 900000000000017005 2884654011 20030731 1 900000000000207008 118652008 en 900000000000550004 Denotes the pits or crypts, but not the glands that lie beneath them 900000000000017005 2884655012 20030731 1 900000000000207008 118661008 en 900000000000550004 Service provided by physician 900000000000017005 2884656013 20030731 1 900000000000207008 118659004 en 900000000000550004 Procedure to anchor a tendon to act as a suspensory ligament 900000000000017005 2884657016 20030731 1 900000000000207008 118635009 en 900000000000550004 Repeating a prior procedure to correct or improve the results 900000000000017005 2884657016 20180131 0 900000000000207008 118635009 en 900000000000550004 Repeating a prior procedure to correct or improve the results 900000000000017005 2884658014 20030731 1 900000000000207008 118636005 en 900000000000550004 Evacuation using positive pressure 900000000000017005 2884659018 20030731 1 900000000000207008 118626002 en 900000000000550004 An anastomosis that places a tubular structure between the cut ends of a previously contiguous tubular structure 900000000000017005 2884660011 20030731 1 900000000000207008 118292001 en 900000000000550004 To take something off or out, to get rid of, to eliminate 900000000000017005 2884661010 20030731 1 900000000000207008 118627006 en 900000000000550004 A construction of a pouch, achieved by resecting the anterior wall of a cyst or other enclosed cavity and suturing the cut edges of the remaining wall to adjacent edges of skin 900000000000017005 2884661010 20200731 0 900000000000207008 118627006 en 900000000000550004 A construction of a pouch, achieved by resecting the anterior wall of a cyst or other enclosed cavity and suturing the cut edges of the remaining wall to adjacent edges of skin 900000000000017005 2884662015 20030731 1 900000000000207008 118640001 en 900000000000550004 Radiation therapy using radiolabelled antibodies 900000000000017005 2884662015 20200131 0 900000000000207008 118640001 en 900000000000550004 Radiation therapy using radiolabelled antibodies 900000000000017005 2884663013 20030731 1 900000000000207008 11899006 en 900000000000550004 Lymph node along the esophagus, may be in either the mediastinum or the neck 900000000000017005 2884663013 20200131 0 900000000000207008 11899006 en 900000000000550004 Lymph node along the esophagus, may be in either the mediastinum or the neck 900000000000017005 2884664019 20060131 1 900000000000207008 118629009 en 900000000000550004 Procedure aimed at enhancing functioning, frequently includes repetition of actions to develop, re-create or maintain physiological/cognitive processes. 900000000000017005 2884665018 20030731 1 900000000000207008 122546009 en 900000000000550004 Enlarging or distending a structure, increasing its internal wall stress 900000000000017005 2884666017 20030731 1 900000000000207008 119249001 en 900000000000550004 Absence of the gamma fraction of serum globulin 900000000000017005 2884666017 20210731 0 900000000000207008 119249001 en 900000000000550004 Absence of the gamma fraction of serum globulin 900000000000017005 2884667014 20030731 1 900000000000207008 49928004 en 900000000000550004 Neck anterior to the vertebral column, including pharynx, larynx, and anterior surface 900000000000017005 2884668016 20030731 1 900000000000207008 50015006 en 900000000000550004 A closure done by stapling 900000000000017005 2884669012 20030731 1 900000000000207008 47538007 en 900000000000550004 Composite structure of hyaluronic acid gel within a stromal network of collagen fibrils 900000000000017005 2884670013 20030731 1 900000000000207008 52250000 en 900000000000550004 Electromagnetic radiation of wavelength between approximately 001 nm and 10 nm 900000000000017005 2884671012 20030731 1 900000000000207008 49864004 en 900000000000550004 A ‘galloping’ sound on cardiac auscultation because of an abnormally audible third heart sound 900000000000017005 2884671012 20150131 0 900000000000207008 49864004 en 900000000000550004 A ‘galloping’ sound on cardiac auscultation because of an abnormally audible third heart sound 900000000000017005 2884672017 20030731 1 900000000000207008 52765003 en 900000000000550004 An insertion of a tubular device into a canal, hollow organ, or cavity 900000000000017005 2884672017 20210731 0 900000000000207008 52765003 en 900000000000550004 An insertion of a tubular device into a canal, hollow organ, or cavity 900000000000017005 2884673010 20030731 1 900000000000207008 54134001 en 900000000000550004 The membranes which surround the embryo but are not involved in formation of the embryo itself 900000000000017005 2884673010 20210731 0 900000000000207008 54134001 en 900000000000550004 The membranes which surround the embryo but are not involved in formation of the embryo itself 900000000000017005 2884674016 20030731 1 900000000000207008 53120007 en 900000000000550004 Upper extremity, including shoulder, arm, forearm, wrist, and hand 900000000000017005 2884675015 20030731 1 900000000000207008 5447007 en 900000000000550004 An infusion of blood or blood product 900000000000017005 2884675015 20210731 0 900000000000207008 5447007 en 900000000000550004 An infusion of blood or blood product 900000000000017005 2884676019 20030731 1 900000000000207008 50659003 en 900000000000550004 A quality of care determination performed retrospectively 900000000000017005 2884677011 20030731 1 900000000000207008 53224005 en 900000000000550004 An autonomic plexus that branches from the aortic plexus, that sends nerves to intestines and with the vagus forms subserous, myenteric, and submucous plexus 900000000000017005 2884678018 20030731 1 900000000000207008 53088000 en 900000000000550004 A transplantation where the donor and recipient spots are part of the same organism 900000000000017005 2884679014 20030731 1 900000000000207008 54305003 en 900000000000550004 Obsolete procedure involving displacement of lens into vitreous for treatment of cataract 900000000000017005 2884680012 20030731 1 900000000000207008 50223000 en 900000000000550004 A transplantation where the donor and recipient spots are from antigenically distinct individuals of the same species 900000000000017005 2884681011 20030731 1 900000000000207008 59108006 en 900000000000550004 Administration using positive pressure and a needle or other equipment to drive a substance into the body 900000000000017005 2884681011 20200131 0 900000000000207008 59108006 en 900000000000550004 Administration using positive pressure and a needle or other equipment to drive a substance into the body 900000000000017005 2884682016 20030731 1 900000000000207008 57551006 en 900000000000550004 Stretching of the iris to increase the outflow of aqueous from the eye in glaucoma patients 900000000000017005 2884683014 20030731 1 900000000000207008 55870005 en 900000000000550004 Administration of a liquid, drop by drop, into or onto the body 900000000000017005 2884684015 20030731 1 900000000000207008 58759008 en 900000000000550004 Superficial dermatitis on opposed skin surfaces 900000000000017005 2884684015 20200731 0 900000000000207008 58759008 en 900000000000550004 Superficial dermatitis on opposed skin surfaces 900000000000017005 2884685019 20030731 1 900000000000207008 56275003 en 900000000000550004 A ligation where the surgical suture serves as a ligature 900000000000017005 2884686018 20030731 1 900000000000207008 56242006 en 900000000000550004 Electromagnetic radiation in the visible range as well as parts of the ultraviolet and infrared ranges 900000000000017005 2884687010 20030731 1 900000000000207008 5845006 en 900000000000550004 A destruction achieved by turning a solid into an emulsion 900000000000017005 2884688017 20030731 1 900000000000207008 57554003 en 900000000000550004 Division of a fibrous capsule surrounding a prosthetic breast implant 900000000000017005 2884689013 20030731 1 900000000000207008 56757003 en 900000000000550004 Removal from a surface by repeated strokes of an edged instrument 900000000000017005 2884690016 20100131 1 900000000000207008 5880005 en 900000000000550004 An observation of the body or a body part using one of the five human senses (e.g. inspection, palpation, percussion, auscultation) 900000000000017005 2884691017 20030731 1 900000000000207008 59719002 en 900000000000550004 To expose the inner surface of a structure to the external surface of the body 900000000000017005 2884692012 20030731 1 900000000000207008 55080005 en 900000000000550004 Electromagnetic radiation from a RAdio Detection and Ranging device 900000000000017005 2884693019 20030731 1 900000000000207008 57430006 en 900000000000550004 A chart-related administrative procedure that checks a chart for completion and accuracy and conformance to chart policy 900000000000017005 2884693019 20200131 0 900000000000207008 57430006 en 900000000000550004 A chart-related administrative procedure that checks a chart for completion and accuracy and conformance to chart policy 900000000000017005 2884694013 20030731 1 900000000000207008 56190005 en 900000000000550004 A line segment connecting anterior pole of cornea to posterior pole of sclera 900000000000017005 2884695014 20030731 1 900000000000207008 54455007 en 900000000000550004 A financial audit to review and/or verify charges 900000000000017005 2884696010 20030731 1 900000000000207008 58000006 en 900000000000550004 Performance of the steps necessary to discharge a patient from a location of care delivery 900000000000017005 2884697018 20030731 1 900000000000207008 5668004 en 900000000000550004 Jejunum, ileum, colon, rectum, and anal canal 900000000000017005 2884698011 20030731 1 900000000000207008 61653009 en 900000000000550004 Fracture and dislocation of the first metacarpal and the carpal-metacarpal joint 900000000000017005 2884699015 20030731 1 900000000000207008 61685007 en 900000000000550004 Lower extremity, including hip, thigh, leg, ankle, and foot 900000000000017005 2884699015 20190731 0 900000000000207008 61685007 en 900000000000550004 Lower extremity, including hip, thigh, leg, ankle, and foot 900000000000017005 2884700019 20100131 1 900000000000207008 63697000 en 900000000000550004 Operation performed using a device that provides oxygenation of blood by diversion away from the heart and lungs through an extracorporeal oxygenation system. 900000000000017005 2884701015 20030731 1 900000000000207008 62975006 en 900000000000550004 A colorless gas with a characteristic foul odor, used as a fuel and shipped as a liquefied compressed gas 900000000000017005 2884702010 20030731 1 900000000000207008 6035001 en 900000000000550004 A chart related administrative procedure that involves abstracting information from the chart 900000000000017005 2884703017 20030731 1 900000000000207008 633004 en 900000000000550004 A chart evaluation performed by a physician 900000000000017005 2884704011 20030731 1 900000000000207008 61086009 en 900000000000550004 A pulse with repeated irregularity 900000000000017005 2884705012 20030731 1 900000000000207008 62014003 en 900000000000550004 All noxious and unintended responses to a medicinal product related to any dose should be considered adverse drug reactions (from US FDA ‘Guideline for Industry, Clinical Safety Data Management: Definitions and Standards for Expedited Reporting’). 900000000000017005 2884705012 20210131 0 900000000000207008 62014003 en 900000000000550004 All noxious and unintended responses to a medicinal product related to any dose should be considered adverse drug reactions (from US FDA ‘Guideline for Industry, Clinical Safety Data Management: Definitions and Standards for Expedited Reporting’). 900000000000017005 2884706013 20030731 1 900000000000207008 62057008 en 900000000000550004 A dilation and a stretching 900000000000017005 2884707016 20030731 1 900000000000207008 60962000 en 900000000000550004 Shell-shaped structure of lateral middle nasal cavity, including bone and covering mucous membrane 900000000000017005 2884708014 20030731 1 900000000000207008 62972009 en 900000000000550004 Removal done by pulling 900000000000017005 2884709018 20030731 1 900000000000207008 60726007 en 900000000000550004 A destruction done by injurious pressure. Note that this pressure can be mechanical, as in squeezing between two hard bodies, or can be a pressure wave, as is used to crush internal stones. 900000000000017005 2884710011 20030731 1 900000000000207008 60753006 en 900000000000550004 Construction of an artificial vagina consisting of a mold covered with a split-thickness skin graft 900000000000017005 2884711010 20030731 1 900000000000207008 64305001 en 900000000000550004 A raised, erythematous papule or cutaneous plaque, usually representing short-lived dermal edema 900000000000017005 2884712015 20030731 1 900000000000207008 65801008 en 900000000000550004 Removal done with a cutting instrument 900000000000017005 2884713013 20030731 1 900000000000207008 6553002 en 900000000000550004 Shell-shaped structure of lateral inferior nasal cavity, including bone and covering mucous membrane 900000000000017005 2884714019 20030731 1 900000000000207008 68305005 en 900000000000550004 Autonomic plexus derived from the aortic plexus, accompanying iliac arteries 900000000000017005 2884715018 20030731 1 900000000000207008 68028003 en 900000000000550004 Dilated part of esophagus for food storage in birds 900000000000017005 2884715018 20140131 0 900000000000207008 68028003 en 900000000000550004 Dilated part of esophagus for food storage in birds 900000000000017005 2884716017 20030731 1 900000000000207008 64597002 en 900000000000550004 Eradicating all or a portion of a body part 900000000000017005 2884716017 20210131 0 900000000000207008 64597002 en 900000000000550004 Eradicating all or a portion of a body part 900000000000017005 2884717014 20030731 1 900000000000207008 68641000 en 900000000000550004 An injection of a gas or powder into a body cavity by positive pressure 900000000000017005 2884718016 20030731 1 900000000000207008 6595006 en 900000000000550004 Structure with calcium deposition 900000000000017005 2884718016 20200731 0 900000000000207008 6595006 en 900000000000550004 Structure with calcium deposition 900000000000017005 2884719012 20030731 1 900000000000207008 66391000 en 900000000000550004 The act of exerting a pulling force 900000000000017005 2884720018 20030731 1 900000000000207008 64874008 en 900000000000550004 A denervation done using chemicals 900000000000017005 2884721019 20030731 1 900000000000207008 68688001 en 900000000000550004 Scraping done with a curette 900000000000017005 2884722014 20030731 1 900000000000207008 7119001 en 900000000000550004 Disease of skin in someone with Lupus erythematosis, though not necessarily systemic or subacute 900000000000017005 2884722014 20150131 0 900000000000207008 7119001 en 900000000000550004 Disease of skin in someone with Lupus erythematosis, though not necessarily systemic or subacute 900000000000017005 2884723016 20030731 1 900000000000207008 67889009 en 900000000000550004 Administration that washes with a stream of liquid 900000000000017005 2884724010 20030731 1 900000000000207008 62834003 en 900000000000550004 Esophagus, stomach, and duodenum 900000000000017005 2884724010 20200131 0 900000000000207008 62834003 en 900000000000550004 Esophagus, stomach, and duodenum 900000000000017005 2884725011 20030731 1 900000000000207008 70302008 en 900000000000550004 A division made transversely across a long axis 900000000000017005 2884726012 20030731 1 900000000000207008 70871006 en 900000000000550004 Biopsy that involves incision and removal of part of a lesion or organ, rather than excision of the entire lesion or organ 900000000000017005 2884727015 20030731 1 900000000000207008 71937005 en 900000000000550004 A manipulation done by a physiatrist 900000000000017005 2884728013 20030731 1 900000000000207008 71905009 en 900000000000550004 The sulcus (furrow) below the lower eyelid 900000000000017005 2884729017 20030731 1 900000000000207008 69079004 en 900000000000550004 Autonomic plexus that runs through the capsule of the prostate and is derived from the inferior hypogastric plexus, and supplies the cavernous nerves of the erectile tissue of penis 900000000000017005 2884730010 20030731 1 900000000000207008 69105007 en 900000000000550004 One of the common carotid, internal carotid, or external carotid arteries 900000000000017005 2884731014 20030731 1 900000000000207008 70502009 en 900000000000550004 The act of making a thumb out of a digit (finger or toe) 900000000000017005 2884732019 20030731 1 900000000000207008 7108004 en 900000000000550004 A destruction that purposefully results in a fracture of bone 900000000000017005 2884733012 20030731 1 900000000000207008 70730006 en 900000000000550004 Increased destruction of erythrocyte precursors 900000000000017005 2884734018 20030731 1 900000000000207008 69854003 en 900000000000550004 A subdivision of the enteric plexus that lies within the tunica muscularis of the intestinal tract 900000000000017005 2884735017 20090131 1 900000000000207008 70881005 en 900000000000550004 Greylag goose subspecies 900000000000017005 2884736016 20030731 1 900000000000207008 71617008 en 900000000000550004 The part of the oral cavity internal to the teeth and bounded posteriorly by the palatoglossal arch 900000000000017005 2884737013 20030731 1 900000000000207008 70751009 en 900000000000550004 To bind with a ligature 900000000000017005 2884738015 20030731 1 900000000000207008 71861002 en 900000000000550004 Introduction of a non biologic device 900000000000017005 2884739011 20030731 1 900000000000207008 75076004 en 900000000000550004 Congenital absence of the spinal cord and brain 900000000000017005 2884740013 20030731 1 900000000000207008 75152009 en 900000000000550004 An autogenous transplantation that does not entirely sever the topographic object from the donor spot, at least until it is united at the recipient spot 900000000000017005 2884740013 20211031 0 900000000000207008 75152009 en 900000000000550004 An autogenous transplantation that does not entirely sever the topographic object from the donor spot, at least until it is united at the recipient spot 900000000000017005 2884741012 20030731 1 900000000000207008 77066003 en 900000000000550004 Excision of appendix of testis—vestige of Mullerian duct 900000000000017005 2884741012 20200131 0 900000000000207008 77066003 en 900000000000550004 Excision of appendix of testis—vestige of Mullerian duct 900000000000017005 2884742017 20030731 1 900000000000207008 10012005 en 900000000000550004 An expulsion done by manipulation 900000000000017005 2884743010 20030731 1 900000000000207008 119268003 en 900000000000550004 Insufflation of a hollow organ or body cavity with gas, causing it to distend or swell 900000000000017005 2884744016 20030731 1 900000000000207008 122501008 en 900000000000550004 Procedure to cause two adjacent structures to be structurally joined together 900000000000017005 2884745015 20030731 1 900000000000207008 122502001 en 900000000000550004 Procedure to fix a mobile or flexible structure to a rigid or inflexible structure 900000000000017005 2884746019 20030731 1 900000000000207008 122504000 en 900000000000550004 The connection between the manubrium and sternum that has progressed from a symphysis to bony union (synostosis) 900000000000017005 2884747011 20030731 1 900000000000207008 122458006 en 900000000000550004 An observation of the body or a body part done by inspection and/or palpation 900000000000017005 2884748018 20030731 1 900000000000207008 122459003 en 900000000000550004 A separation of different structures along natural cleavage lines by dividing the connective tissue framework 900000000000017005 2884748018 20160131 0 900000000000207008 122459003 en 900000000000550004 A separation of different structures along natural cleavage lines by dividing the connective tissue framework 900000000000017005 2884749014 20030731 1 900000000000207008 122460008 en 900000000000550004 A repeated exploration 900000000000017005 2884750014 20030731 1 900000000000207008 122545008 en 900000000000550004 Procedure to arouse the body or any of its parts or organs to increase functional activity 900000000000017005 2884751013 20060131 1 900000000000207008 409073007 en 900000000000550004 Procedure that is synonymous with those activities such as teaching, demonstration, instruction, explanation, and advice that aim to increase knowledge and skills, change behaviors, assist coping and increase adherence to treatment. 900000000000017005 2884752018 20030731 1 900000000000207008 122461007 en 900000000000550004 Removal of the contents of a body cavity or container 900000000000017005 2884753011 20030731 1 900000000000207008 122462000 en 900000000000550004 Evacuation of liquid contents by gravity 900000000000017005 2884754017 20030731 1 900000000000207008 312004007 en 900000000000550004 The state of reverse blood flow through a valve or orifice 900000000000017005 2884754017 20150731 0 900000000000207008 312004007 en 900000000000550004 The state of reverse blood flow through a valve or orifice 900000000000017005 2884755016 20030731 1 900000000000207008 119248009 en 900000000000550004 Increased serum albumin concentration 900000000000017005 2884756015 20030731 1 900000000000207008 119265000 en 900000000000550004 Helping the body perform a function it normally does on its own 900000000000017005 2884756015 20150731 0 900000000000207008 119265000 en 900000000000550004 Helping the body perform a function it normally does on its own 900000000000017005 2884757012 20030731 1 900000000000207008 122489005 en 900000000000550004 Organs of urine formation and secretion 900000000000017005 2884758019 20030731 1 900000000000207008 122497003 en 900000000000550004 Tendons involved in flexing the wrist joint, excluding flexor tendons that pass through the wrist that flex the fingers 900000000000017005 2884759010 20030731 1 900000000000207008 122498008 en 900000000000550004 A potential space of the floor of the mouth; part of the submandibular space below the mylohyoid muscle 900000000000017005 2884760017 20030731 1 900000000000207008 122463005 en 900000000000550004 An injection of some substance into the circulation to occlude vessels, either to arrest or prevent hemorrhaging or to devitalize a structure or organ by occluding its blood supply 900000000000017005 2884761018 20030731 1 900000000000207008 122464004 en 900000000000550004 Procedure to increase the size, shape, or volume of a body structure 900000000000017005 2884761018 20220228 0 900000000000207008 122464004 en 900000000000550004 Procedure to increase the size, shape, or volume of a body structure 900000000000017005 2884762013 20030731 1 900000000000207008 122972007 en 900000000000550004 Any vein draining the lungs, including pulmonary veins proper and their tributaries 900000000000017005 2884763015 20030731 1 900000000000207008 122465003 en 900000000000550004 A reparative construction that builds or rebuilds a structure that should normally be present 900000000000017005 2884763015 20211031 0 900000000000207008 122465003 en 900000000000550004 A reparative construction that builds or rebuilds a structure that should normally be present 900000000000017005 2884764014 20030731 1 900000000000207008 122467006 en 900000000000550004 A measurement or adjustment of a device or biologic material to the right shape or size so as to conform correctly when introduced or transplanted 900000000000017005 2884765010 20030731 1 900000000000207008 119266004 en 900000000000550004 A destruction of tissue by means that results in condensation of protein material 900000000000017005 2884766011 20030731 1 900000000000207008 122499000 en 900000000000550004 A potential space of the floor of the mouth; the medial part of the submaxillary space 900000000000017005 2884767019 20030731 1 900000000000207008 122500009 en 900000000000550004 A potential space containing the pterygoid and masseter muscles 900000000000017005 2884768012 20060131 1 900000000000207008 409063005 en 900000000000550004 Psychosocial procedure that involves listening, reflecting, etc. to facilitate recognition of course of action / solution. 900000000000017005 2884769016 20030731 1 900000000000207008 119271006 en 900000000000550004 A destruction of a natural space or lumen by induced fibrosis or inflammation 900000000000017005 2884770015 20030731 1 900000000000207008 119246008 en 900000000000550004 Muslim prayer leader 900000000000017005 2884771016 20030731 1 900000000000207008 119283008 en 900000000000550004 Biopsy by open approach, as opposed to percutaneous or endoscopic methods 900000000000017005 2884772011 20030731 1 900000000000207008 119270007 en 900000000000550004 A plan or recommendation for services, based on an evaluation 900000000000017005 2884773018 20030731 1 900000000000207008 119247004 en 900000000000550004 Reduced serum albumin concentration 900000000000017005 2884774012 20030731 1 900000000000207008 119250001 en 900000000000550004 Decreased concentration of the gamma fraction of serum globulin 900000000000017005 2884775013 20030731 1 900000000000207008 119251002 en 900000000000550004 An inhalation reflex stimulated by an irritation of the mucous membrane of the nose 900000000000017005 2884776014 20030731 1 900000000000207008 125101009 en 900000000000550004 Merino sheep breed group 900000000000017005 2884777017 20030731 1 900000000000207008 125102002 en 900000000000550004 Mallard duck species 900000000000017005 2884777017 20170731 0 900000000000207008 125102002 en 900000000000550004 Mallard duck species 900000000000017005 2884778010 20030731 1 900000000000207008 125681006 en 900000000000550004 Not currently married 900000000000017005 2884779019 20030731 1 900000000000207008 127346000 en 900000000000550004 Disorders characterized by eye movement abnormalities that are the result of brain, cranial nerve, or neuromuscular junction dysfunction 900000000000017005 2884779019 20200131 0 900000000000207008 127346000 en 900000000000550004 Disorders characterized by eye movement abnormalities that are the result of brain, cranial nerve, or neuromuscular junction dysfunction 900000000000017005 2884780016 20090131 1 900000000000207008 125104001 en 900000000000550004 Greylag goose species 900000000000017005 2884780016 20170731 0 900000000000207008 125104001 en 900000000000550004 Greylag goose species 900000000000017005 2884781017 20030731 1 900000000000207008 125105000 en 900000000000550004 Junglefowl genus 900000000000017005 2884782012 20080731 1 900000000000207008 430975009 en 900000000000550004 A puncture action done to intentionally and non-transiently alter the body structure. 900000000000017005 2884783019 20090131 1 900000000000207008 438156004 en 900000000000550004 Epileptic seizure provoked by anoxia 900000000000017005 2884784013 20090131 1 900000000000207008 438113009 en 900000000000550004 Syncope followed by tonic or tonic-clonic movements due to cortical depression and not as a result of a cortical electrical seizure 900000000000017005 2884785014 20090131 1 900000000000207008 437986008 en 900000000000550004 The triad of nuchal rigidity, photophobia and headache. Not the same as meningismus. 900000000000017005 2884786010 20090131 1 900000000000207008 437882009 en 900000000000550004 For cerebral dominance, the presence of right dominance or preference for some functions (eye dominance, foot preference, hand preference), and left dominance or preference for others 900000000000017005 2884787018 20030731 1 900000000000207008 15367004 en 900000000000550004 A medical audit of ancillary services (such as physical therapy, dietary) 900000000000017005 2884788011 20030731 1 900000000000207008 174000 en 900000000000550004 Vaginopexy according to Williams and Richardson is an abdominal colposuspension by strips from external oblique 900000000000017005 2884789015 20030731 1 900000000000207008 122865005 en 900000000000550004 Esophagus, stomach, small intestine, and large intestine together as a single entity 900000000000017005 2884789015 20200131 0 900000000000207008 122865005 en 900000000000550004 Esophagus, stomach, small intestine, and large intestine together as a single entity 900000000000017005 2884790012 20030731 1 900000000000207008 1648002 en 900000000000550004 Tumor-like mass in lungs composed of fibrous tissue or granulation tissue with inflammatory cells 900000000000017005 2884790012 20200131 0 900000000000207008 1648002 en 900000000000550004 Tumor-like mass in lungs composed of fibrous tissue or granulation tissue with inflammatory cells 900000000000017005 2884791011 20090131 1 900000000000207008 16872008 en 900000000000550004 Severe disease manifests factor VIII activity of less than 1%, except in the U.K. and Italy, where severe disease includes factor VIII activity levels of less than 2% 900000000000017005 2884792016 20030731 1 900000000000207008 12371008 en 900000000000550004 A granulomatous, inflammatory disorder of the eye; reaction to vegetable or insect hairs 900000000000017005 2884792016 20120731 0 900000000000207008 12371008 en 900000000000550004 A granulomatous, inflammatory disorder of the eye; reaction to vegetable or insect hairs 900000000000017005 2884793014 20030731 1 900000000000207008 123976001 en 900000000000550004 A disorder that follows infection but is distinct from the infection itself and its usual manifestations 900000000000017005 2884794015 20030731 1 900000000000207008 16992002 en 900000000000550004 A manipulation done by an osteopath 900000000000017005 2884794015 20180131 0 900000000000207008 16992002 en 900000000000550004 A manipulation done by an osteopath 900000000000017005 2884795019 20030731 1 900000000000207008 16817006 en 900000000000550004 A medical audit of direct care providers 900000000000017005 2884796018 20030731 1 900000000000207008 1735007 en 900000000000550004 Vibration felt by examiner on the surface of the body 900000000000017005 2884797010 20100731 1 900000000000207008 360153003 en 900000000000550004 To create a cast or mold of a structure by pressing a malleable material onto it. 900000000000017005 2884798017 20030731 1 900000000000207008 122869004 en 900000000000550004 An observation, by some objective method, of amount, number, quantity, size, level, extent, or magnitude, resulting in an ordinal or quantitative value 900000000000017005 2884799013 20030731 1 900000000000207008 122861001 en 900000000000550004 A potential space in the floor of the mouth; the part of the submandibular space above the mylohyoid muscle 900000000000017005 2884800012 20030731 1 900000000000207008 15270002 en 900000000000550004 Complete obstruction of the intestine due to the presence in the lumen of blocking material, such as tumor, fecalith, gallstone, or foreign body 900000000000017005 2884800012 20200131 0 900000000000207008 15270002 en 900000000000550004 Complete obstruction of the intestine due to the presence in the lumen of blocking material, such as tumor, fecalith, gallstone, or foreign body 900000000000017005 2884801011 20030731 1 900000000000207008 1231004 en 900000000000550004 The three membranes that surround the brain and spinal cord, consisting of the dura mater, arachnoid, and pia mater. The pia and arachnoid in combination are referred to as the leptomeninges. 900000000000017005 2884802016 20030731 1 900000000000207008 17374005 en 900000000000550004 Measurement of CSF pressure following compression of jugular vein 900000000000017005 2884803014 20030731 1 900000000000207008 1677001 en 900000000000550004 Breast examination for malignancy in which patient leans forward and breasts are examined for abnormal contour 900000000000017005 2884804015 20030731 1 900000000000207008 16982005 en 900000000000550004 The body part defined by the shoulder joint and its surrounding structures 900000000000017005 2884805019 20050731 1 900000000000207008 417163006 en 900000000000550004 Disorder resulting from physical damage to the body 900000000000017005 2884806018 20050731 1 900000000000207008 417746004 en 900000000000550004 Disorder resulting from physical damage to the body 900000000000017005 2884806018 20150731 0 900000000000207008 417746004 en 900000000000550004 Disorder resulting from physical damage to the body 900000000000017005 2884807010 20090731 1 900000000000207008 418506006 en 900000000000550004 Harmful physical force inflicted other than by accidental means in the context of a personal role relationship to the abused in which the action violates a social norm 900000000000017005 2884808017 20030731 1 900000000000207008 125086000 en 900000000000550004 Intersubspecies equine hybrid 900000000000017005 2884809013 20050131 1 900000000000207008 413577001 en 900000000000550004 Thoracic outlet syndrome, either nerve or vessel compression, due to a cervical rib 900000000000017005 2884809013 20211130 0 900000000000207008 413577001 en 900000000000550004 Thoracic outlet syndrome, either nerve or vessel compression, due to a cervical rib 900000000000017005 2884810015 20030731 1 900000000000207008 359593004 en 900000000000550004 Arthrodesis of one or more of the tarsal joints 900000000000017005 2884811016 20030731 1 900000000000207008 123038009 en 900000000000550004 Material (structure, substance, device) removed from a source (patient, donor, physical location, product) 900000000000017005 2884812011 20030731 1 900000000000207008 125093001 en 900000000000550004 Intergenus hybrid of cattle 900000000000017005 2884813018 20030731 1 900000000000207008 125094007 en 900000000000550004 Intersubspecies cattle hybrid 900000000000017005 2884814012 20030731 1 900000000000207008 125095008 en 900000000000550004 Interspecies hybrid of cattle 900000000000017005 2884815013 20110131 1 900000000000207008 445967004 en 900000000000550004 A first neurologic episode caused by inflammation/demyelination of one or more central nervous system sites that lasts at least 24 hours. 900000000000017005 2884816014 20110131 1 900000000000207008 26889001 en 900000000000550004 Inflammation of skeletal muscle, not including inflammation of cardiac muscle 900000000000017005 2884817017 20030731 1 900000000000207008 23426006 en 900000000000550004 A procedure on the respiratory tract that observes pulmonary function 900000000000017005 2884818010 20030731 1 900000000000207008 78817002 en 900000000000550004 A construction of an opening between two hollow structures, organs, or spaces, be they real or artificial 900000000000017005 2884819019 20030731 1 900000000000207008 74923002 en 900000000000550004 A procedure that mobilizes or frees up an abnormally fixed structure 900000000000017005 2884820013 20030731 1 900000000000207008 76440000 en 900000000000550004 Autonomic dysfunction of unknown etiology in horses, with gut paralysis as primary manifestation 900000000000017005 2884820013 20140131 0 900000000000207008 76440000 en 900000000000550004 Autonomic dysfunction of unknown etiology in horses, with gut paralysis as primary manifestation 900000000000017005 2884821012 20030731 1 900000000000207008 78678003 en 900000000000550004 Domestic pig subspecies 900000000000017005 2884822017 20030731 1 900000000000207008 75180006 en 900000000000550004 A listening of the sounds produced in response to tapping the body surface 900000000000017005 2884823010 20030731 1 900000000000207008 80406003 en 900000000000550004 Dislocation of joint caused by presence of another disease 900000000000017005 2884824016 20030731 1 900000000000207008 79869003 en 900000000000550004 An autonomic plexus that branches from the aortic plexus, that sends nerves to descending colon, sigmoid, and rectum along the path of the inferior mesenteric artery 900000000000017005 2884825015 20030731 1 900000000000207008 76248009 en 900000000000550004 The body part defined by the elbow joint and surrounding structures 900000000000017005 2884826019 20030731 1 900000000000207008 75506009 en 900000000000550004 A construction of an abnormal passage between a cavity or hollow organ and the surface of the body 900000000000017005 2884826019 20210930 0 900000000000207008 75506009 en 900000000000550004 A construction of an abnormal passage between a cavity or hollow organ and the surface of the body 900000000000017005 2884827011 20030731 1 900000000000207008 75184002 en 900000000000550004 Electromagnetic radiation in the visible range 900000000000017005 2884828018 20030731 1 900000000000207008 74636004 en 900000000000550004 A part of the celiac ganglion that is semidetached and contains sympathetic neurons that innervate the kidney 900000000000017005 2884828018 20200131 0 900000000000207008 74636004 en 900000000000550004 A part of the celiac ganglion that is semidetached and contains sympathetic neurons that innervate the kidney 900000000000017005 2884829014 20030731 1 900000000000207008 78141002 en 900000000000550004 A disorder of the superior trunk of the brachial plexus or the fifth and sixth cervical spinal nerves or motor roots, resulting in weakness of proximal upper extremity musculature innervated by these nerve roots 900000000000017005 2884830016 20030731 1 900000000000207008 72696002 en 900000000000550004 The body part defined by the knee joint and its surrounding structures 900000000000017005 2884831017 20030731 1 900000000000207008 76729009 en 900000000000550004 Outer coating of eyeball; has parts cornea and sclera 900000000000017005 2884832012 20030731 1 900000000000207008 65690001 en 900000000000550004 Lymph node along the trachea; may be in either the thorax or the neck 900000000000017005 2884833019 20030731 1 900000000000207008 65289004 en 900000000000550004 Shell-shaped structure of lateral superior nasal cavity, including bone and covering mucous membrane 900000000000017005 2884834013 20030731 1 900000000000207008 81036009 en 900000000000550004 An autonomic plexus derived from inferior hypogastric plexus to supply sympathetic nerve fibers to urinary bladder, ureter, ductus deferens, and seminal vesicle 900000000000017005 2884834013 20200131 0 900000000000207008 81036009 en 900000000000550004 An autonomic plexus derived from inferior hypogastric plexus to supply sympathetic nerve fibers to urinary bladder, ureter, ductus deferens, and seminal vesicle 900000000000017005 2884835014 20030731 1 900000000000207008 77329001 en 900000000000550004 Habitual breathing through the mouth, usually associated with obstruction of nasal passages 900000000000017005 2884836010 20030731 1 900000000000207008 77465005 en 900000000000550004 To move body tissue or cells from donor site to recipient site 900000000000017005 2884837018 20030731 1 900000000000207008 83038001 en 900000000000550004 Anterior region of the thigh 900000000000017005 2884838011 20030731 1 900000000000207008 79095000 en 900000000000550004 Complete excision and removal of an entire body organ 900000000000017005 2884839015 20030731 1 900000000000207008 81040000 en 900000000000550004 Includes pulmonary trunk, left and right main pulmonary arteries, and all their branches 900000000000017005 2884839015 20190731 0 900000000000207008 81040000 en 900000000000550004 Includes pulmonary trunk, left and right main pulmonary arteries, and all their branches 900000000000017005 2884840018 20030731 1 900000000000207008 81099000 en 900000000000550004 The stiffening of one or more cervical joints by operative means 900000000000017005 2884841019 20030731 1 900000000000207008 8205005 en 900000000000550004 The body part defined by the wrist joint and surrounding structures 900000000000017005 2884842014 20030731 1 900000000000207008 64779008 en 900000000000550004 Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system 900000000000017005 2884842014 20210731 0 900000000000207008 64779008 en 900000000000550004 Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system 900000000000017005 2884843016 20030731 1 900000000000207008 64157005 en 900000000000550004 Autonomic plexi that are part of the celiac plexus that lies on the greater and lessor curvatures of the stomach 900000000000017005 2884843016 20150131 0 900000000000207008 64157005 en 900000000000550004 Autonomic plexi that are part of the celiac plexus that lies on the greater and lessor curvatures of the stomach 900000000000017005 2884844010 20030731 1 900000000000207008 81723002 en 900000000000550004 Excision of normal topography 900000000000017005 2884845011 20030731 1 900000000000207008 64853007 en 900000000000550004 A vulvovaginoplasty procedure described by Williams to create a vaginal canal 900000000000017005 2884846012 20030731 1 900000000000207008 67551009 en 900000000000550004 Any abnormality of the third heart sound 900000000000017005 2884847015 20030731 1 900000000000207008 80917008 en 900000000000550004 Toxic, noxious, or poisonous substance that is produced by a living organism 900000000000017005 2884848013 20030731 1 900000000000207008 86088003 en 900000000000550004 A puncture into a space with an aspiration of that space 900000000000017005 2884849017 20030731 1 900000000000207008 8889005 en 900000000000550004 Biopsy that removes an entire lesion, with or without surrounding tissue 900000000000017005 2884850017 20030731 1 900000000000207008 8389004 en 900000000000550004 The birth canal; consists of uterine cervix, vagina, and vulva 900000000000017005 2884851018 20030731 1 900000000000207008 86273004 en 900000000000550004 Removal of tissue for diagnostic examination 900000000000017005 2884851018 20160131 0 900000000000207008 86273004 en 900000000000550004 Removal of tissue for diagnostic examination 900000000000017005 2884852013 20030731 1 900000000000207008 86588008 en 900000000000550004 Fascia enclosing the extrocular muscles 900000000000017005 2884852013 20150131 0 900000000000207008 86588008 en 900000000000550004 Fascia enclosing the extrocular muscles 900000000000017005 2884853015 20030731 1 900000000000207008 88834003 en 900000000000550004 A construction of an alternate route of passage of a bodily substance 900000000000017005 2884854014 20030731 1 900000000000207008 91539005 en 900000000000550004 One of the great vessels draining venous blood from the right lung 900000000000017005 2884855010 20030731 1 900000000000207008 85595005 en 900000000000550004 Pulse felt over the abdominal aorta 900000000000017005 2884856011 20030731 1 900000000000207008 87193006 en 900000000000550004 A fixation that joins together two body parts, rendering them immobile with respect to each other 900000000000017005 2884857019 20030731 1 900000000000207008 86484008 en 900000000000550004 Any abnormality of the fourth heart sound 900000000000017005 2884858012 20030731 1 900000000000207008 86064000 en 900000000000550004 An autonomic plexus that is a subdivision of the aortic plexus, or derived from it, that accompanies the testicular artery 900000000000017005 2884858012 20120731 0 900000000000207008 86064000 en 900000000000550004 An autonomic plexus that is a subdivision of the aortic plexus, or derived from it, that accompanies the testicular artery 900000000000017005 2884859016 20030731 1 900000000000207008 91454002 en 900000000000550004 Presence of greater than normal number of cells in the cerebrospinal fluid 900000000000017005 2884860014 20030731 1 900000000000207008 8595004 en 900000000000550004 Part of the enteric plexus situated in the intestinal submucosa 900000000000017005 2884861013 20030731 1 900000000000207008 85921004 en 900000000000550004 A procedure done by piercing or penetrating with a pointed object or instrument 900000000000017005 2884862018 20030731 1 900000000000207008 82515000 en 900000000000550004 A small (less than 1 cm) fluid-filled lesion, raised above the plane of surrounding skin 900000000000017005 2884863011 20030731 1 900000000000207008 9134004 en 900000000000550004 Obsolete method for determining cardiac output by measuring recoil of body due to cardiac contraction 900000000000017005 2884864017 20030731 1 900000000000207008 76777009 en 900000000000550004 Procedure that applies electrical stimulation to the phrenic nerve to achieve ventilation 900000000000017005 2884865016 20030731 1 900000000000207008 76145000 en 900000000000550004 An incision done for the purpose of performing an exploration 900000000000017005 2884866015 20030731 1 900000000000207008 91480001 en 900000000000550004 An administration into the tissues of an ionic substance by means of an electric current 900000000000017005 2884867012 20030731 1 900000000000207008 76572000 en 900000000000550004 A pulmonary function test that measures lung volumes 900000000000017005 2884868019 20030731 1 900000000000207008 86075001 en 900000000000550004 Includes both quantitative and qualitative disorders of procoagulants 900000000000017005 2884869010 20090731 1 900000000000207008 90412006 en 900000000000550004 Device used to examine the entire colon 900000000000017005 2884870011 20030731 1 900000000000207008 86078004 en 900000000000550004 A procedure that assesses the quality of health care service delivery 900000000000017005 2884871010 20030731 1 900000000000207008 78064003 en 900000000000550004 Any function involved in the exchange of oxygen and carbon dioxide between the atmosphere and the cells of the body 900000000000017005 2884872015 20030731 1 900000000000207008 88427007 en 900000000000550004 Colorless gas with a sweet odor, used as fuel and shipped as compressed gas 900000000000017005 2884872015 20200131 0 900000000000207008 88427007 en 900000000000550004 Colorless gas with a sweet odor, used as fuel and shipped as compressed gas 900000000000017005 2884873013 20030731 1 900000000000207008 9385004 en 900000000000550004 Subcutaneous tissue including some tissue of finger AND some additional non finger tissue 900000000000017005 2884874019 20030731 1 900000000000207008 91739007 en 900000000000550004 Fine connective tissue sheath around a muscle fiber 900000000000017005 2884875018 20030731 1 900000000000207008 95837007 en 900000000000550004 A form of cyanosis that occurs when there is a decrease in oxygen saturation in the arterial blood, usually with an SaO2 of below 75% 900000000000017005 2884875018 20200731 0 900000000000207008 95837007 en 900000000000550004 A form of cyanosis that occurs when there is a decrease in oxygen saturation in the arterial blood, usually with an SaO2 of below 75% 900000000000017005 2884876017 20030731 1 900000000000207008 95692001 en 900000000000550004 An abnormal milky appearance of arteries and veins of retina, for example due to lipids in blood greater than 5%, diabetes mellitus, or leukemia 900000000000017005 2884877014 20090131 1 900000000000207008 95333004 en 900000000000550004 A dermatosis with pruritic sterile papules and pustules that come together to form plaques with papulovesicular borders, and a tendency toward central clearing and hyperpigmentation, with spontaneous exacerbations and remissions. Histologically variable with folliculitis of follicle sheath and perifollicular dermis and spongiosis of follicular epithelium, sometimes with peripheral leukocytosis and or eosinophilia and or eosinophilic abscesses. 900000000000017005 2884878016 20030731 1 900000000000207008 95323007 en 900000000000550004 Hard non pitting edema and induration of the skin; a finding associated with Buschke’s disease 900000000000017005 2884878016 20150131 0 900000000000207008 95323007 en 900000000000550004 Hard non pitting edema and induration of the skin; a finding associated with Buschke’s disease 900000000000017005 2884879012 20030731 1 900000000000207008 9421007 en 900000000000550004 A dilation done with a bougie 900000000000017005 2884880010 20090131 1 900000000000207008 95442007 en 900000000000550004 Finding characterized by slowing of blood flow to a peripheral body region in association with an increase in oxygen extraction from normally saturated arterial blood 900000000000017005 2884880010 20200131 0 900000000000207008 95442007 en 900000000000550004 Finding characterized by slowing of blood flow to a peripheral body region in association with an increase in oxygen extraction from normally saturated arterial blood 900000000000017005 2884881014 20030731 1 900000000000207008 85768003 en 900000000000550004 Median bar-a fibrotic structure across the neck of the prostate causing urethral obstruction 900000000000017005 2884882019 20030731 1 900000000000207008 82254000 en 900000000000550004 A fixation that is being revised 900000000000017005 2884883012 20030731 1 900000000000207008 95712005 en 900000000000550004 Eversion of the margin of the pupil 900000000000017005 2884884018 20030731 1 900000000000207008 95564001 en 900000000000550004 Obstruction of the pancreatic duct leading to swelling of the pancreas as a whole 900000000000017005 2884885017 20090131 1 900000000000207008 82345001 en 900000000000550004 Involuntary lifting of the legs upon lifting a patient's head. 900000000000017005 2884886016 20030731 1 900000000000207008 82200002 en 900000000000550004 An autonomic plexus that is a subdivision of the celiac plexus that accompanies the splenic artery 900000000000017005 2884886016 20200131 0 900000000000207008 82200002 en 900000000000550004 An autonomic plexus that is a subdivision of the celiac plexus that accompanies the splenic artery 900000000000017005 2884887013 20030731 1 900000000000207008 84157002 en 900000000000550004 The location of the epiphyseal growth plate subsequent to its ossification 900000000000017005 2884888015 20030731 1 900000000000207008 84299009 en 900000000000550004 Inflammation of a peripheral AND/OR cranial nerve 900000000000017005 2884889011 20030731 1 900000000000207008 84757009 en 900000000000550004 A disorder characterized by recurrent seizures 900000000000017005 2884889011 20200131 0 900000000000207008 84757009 en 900000000000550004 A disorder characterized by recurrent seizures 900000000000017005 2884890019 20030731 1 900000000000207008 9667001 en 900000000000550004 A removal done by tearing away or forcible separation 900000000000017005 2884891015 20030731 1 900000000000207008 84100007 en 900000000000550004 A clinically oriented interview of a patient or someone familiar with the patient 900000000000017005 2884892010 20080731 1 900000000000207008 363162000 en 900000000000550004 A disorder of joint(s) caused by the presence of an infectious agent in the joint(s). 900000000000017005 2884893017 20030731 1 900000000000207008 93040009 en 900000000000550004 A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi 900000000000017005 2884894011 20030731 1 900000000000207008 90991008 en 900000000000550004 Excision of a fibrous capsule surrounding a prosthetic breast implant 900000000000017005 2884895012 20030731 1 900000000000207008 94684003 en 900000000000550004 Congenital abnormal vertical shortness of eyelids 900000000000017005 2884896013 20030731 1 900000000000207008 95336007 en 900000000000550004 Recurrent ulceration and fat necrosis, associated with loss of subcutaneous tissue and a decrease in lower leg circumference 900000000000017005 2884896013 20190731 0 900000000000207008 95336007 en 900000000000550004 Recurrent ulceration and fat necrosis, associated with loss of subcutaneous tissue and a decrease in lower leg circumference 900000000000017005 2884897016 20100131 1 900000000000207008 216800002 en 900000000000550004 Accidental poisoning by cadmium and/or cadmium compounds. 900000000000017005 2884897016 20210930 0 900000000000207008 216800002 en 900000000000550004 Accidental poisoning by cadmium and/or cadmium compounds. 900000000000017005 2884898014 20090131 1 900000000000207008 363687006 en 900000000000550004 A procedure in which an endoscope is used to access the procedure site. 900000000000017005 2884899018 20100131 1 900000000000207008 248241002 en 900000000000550004 This is the original version, published in 1974. It has a maximum score of 14. 900000000000017005 2884900011 20100131 1 900000000000207008 412726003 en 900000000000550004 Duration of the pregnancy 900000000000017005 2884901010 20040731 1 900000000000207008 386053000 en 900000000000550004 Determination of a value, conclusion, or inference by evaluating evidence 900000000000017005 2884902015 20100731 1 900000000000207008 391100008 en 900000000000550004 Death of an infant after 28 days of age and before 1 year of age 900000000000017005 2884903013 20030731 1 900000000000207008 388445009 en 900000000000550004 Horse, donkey, mule genus 900000000000017005 2884903013 20210131 0 900000000000207008 388445009 en 900000000000550004 Horse, donkey, mule genus 900000000000017005 2884904019 20030731 1 900000000000207008 388168008 en 900000000000550004 Cattle genus 900000000000017005 2884905018 20030731 1 900000000000207008 387713003 en 900000000000550004 Planned structural alteration of the body, usually requiring disruption of a body surface (usually skin or mucosa) 900000000000017005 2884905018 20210731 0 900000000000207008 387713003 en 900000000000550004 Planned structural alteration of the body, usually requiring disruption of a body surface (usually skin or mucosa) 900000000000017005 2884906017 20030731 1 900000000000207008 388393002 en 900000000000550004 Swine genus 900000000000017005 2884907014 20030731 1 900000000000207008 387651008 en 900000000000550004 An exploration done using a probe 900000000000017005 2884908016 20080731 1 900000000000207008 425764006 en 900000000000550004 Transection is a division across the longitudinal axis of a structure 900000000000017005 2884909012 20030731 1 900000000000207008 384709000 en 900000000000550004 Injury to a ligament due to movement of joint beyond normal range 900000000000017005 2884909012 20210131 0 900000000000207008 384709000 en 900000000000550004 Injury to a ligament due to movement of joint beyond normal range 900000000000017005 2884910019 20070731 1 900000000000207008 387124009 en 900000000000550004 Tissue factor, the high-affinity receptor and cofactor for the plasma serine protease VII/VIIa 900000000000017005 2884911015 20030731 1 900000000000207008 399039004 en 900000000000550004 The integral of the Doppler spectral profile of the diastolic component of pulmonary venous flow. 900000000000017005 2884912010 20030731 1 900000000000207008 399235004 en 900000000000550004 Volume of blood contained in the left atrium at end-systole. 900000000000017005 2884913017 20030731 1 900000000000207008 399058008 en 900000000000550004 Ratio of Aortic Valve Acceleration Time to Aortic Valve Ejection Time 900000000000017005 2884913017 20200731 0 900000000000207008 399058008 en 900000000000550004 Ratio of Aortic Valve Acceleration Time to Aortic Valve Ejection Time 900000000000017005 2884914011 20030731 1 900000000000207008 399271003 en 900000000000550004 Imaging plane with the transducer at the sternal border oriented along the short axis of the left ventricle, which includes the left ventricle at the level of the papillary muscles, and right ventricle. This plane is inferior to the cordae. 900000000000017005 2884915012 20030731 1 900000000000207008 399064001 en 900000000000550004 2D, B-mode, B-scan image type 900000000000017005 2884915012 20150131 0 900000000000207008 399064001 en 900000000000550004 2D, B-mode, B-scan image type 900000000000017005 2884916013 20030731 1 900000000000207008 399104001 en 900000000000550004 The time interval from the closure of the 1st Doppler spectral taken from the mitral valve to the opening of the 2nd Doppler spectral of the mitral valve. 900000000000017005 2884916013 20120731 0 900000000000207008 399104001 en 900000000000550004 The time interval from the closure of the 1st Doppler spectral taken from the mitral valve to the opening of the 2nd Doppler spectral of the mitral valve. 900000000000017005 2884917016 20030731 1 900000000000207008 399106004 en 900000000000550004 Imaging plane with the transducer in the suprasternal notch, oriented along the long axis of the ascending aorta, aortic arch vessels, and proximal descending aorta. 900000000000017005 2884918014 20080731 1 900000000000207008 399145009 en 900000000000550004 Imaging plane with transducer in suprasternal notch, oriented along short axis of aortic arch. This plane of section visualizes a cross-section of aorta, long axis of RPA, and in the pediatric patient, the left atrium and four pulmonary veins. 900000000000017005 2884919018 20080731 1 900000000000207008 399036006 en 900000000000550004 Imaging plane with transducer at left sternal border oriented along short axis of left ventricle, which includes left ventricle at level of mitral valve leaflets, ventricular septum, and right ventricle. Plane is inferior to aortic valve at base of heart. 900000000000017005 2884920012 20030731 1 900000000000207008 399287000 en 900000000000550004 (Diastolic Area – Systolic Area) / Diastolic Area 900000000000017005 2884920012 20150131 0 900000000000207008 399287000 en 900000000000550004 (Diastolic Area – Systolic Area) / Diastolic Area 900000000000017005 2884921011 20080731 1 900000000000207008 399371001 en 900000000000550004 Imaging plane with transducer at left sternal border oriented along short axis of left ventricle, which includes left ventricle at level of mitral chords, ventricular septum, and right ventricle. This plane is inferior to mitral valve. 900000000000017005 2884922016 20030731 1 900000000000207008 399007006 en 900000000000550004 Myocardial tissue velocity by Pulsed Wave Doppler, typically adjacent to the mitral annulus, measured at the time of left atrial contraction. 900000000000017005 2884923014 20030731 1 900000000000207008 399048009 en 900000000000550004 Peak velocity obtained from Pulsed Wave Doppler or continuous wave Doppler, positioned in the main pulmonary artery. 900000000000017005 2884924015 20030731 1 900000000000207008 399214001 en 900000000000550004 A coronal imaging plane with the transducer at the cardiac apex which includes the left ventricle, left atrium, right ventricle and right atrium. 900000000000017005 2884925019 20030731 1 900000000000207008 399301000 en 900000000000550004 Ratio of the Regurgitant Volume to the Stroke Volume: Regurgitant Volume / Inflow Volume. The Regurgitant Volume is the retrograde flow. The Inflow Volume is total antegrade volume. which is the sum of the Regurgitant Volume and net antegrade volume. 900000000000017005 2884926018 20030731 1 900000000000207008 399339008 en 900000000000550004 Imaging plane with the transducer at the cardiac apex, which includes the left ventricle, left atrium, aortic outflow tract and proximal aorta. Usually visualizes a small portion of the right ventricle in the near field. 900000000000017005 2884927010 20030731 1 900000000000207008 398998003 en 900000000000550004 View of the Portion of the right ventricle adjacent to the tricuspid valve, the inflow portion of the RV. Common acronym: RVIT. 900000000000017005 2884928017 20030731 1 900000000000207008 399232001 en 900000000000550004 Imaging plane with the transducer at the cardiac apex, which includes the left ventricle and left atrium. 900000000000017005 2884929013 20030731 1 900000000000207008 399293008 en 900000000000550004 Epicardial area of the left ventricle, cross section [parasternal short axis view] at the level of the papillary muscles in diastole. 900000000000017005 2884930015 20080731 1 900000000000207008 399139001 en 900000000000550004 Imaging plane with transducer at left sternal border oriented along long axis of left ventricle, which includes left ventricle, left atrium, aortic outflow tract and proximal aorta. Usually visualizes a small portion of right ventricle. 900000000000017005 2884931016 20030731 1 900000000000207008 399140004 en 900000000000550004 Transmitral velocity measured at the leaflet tips at the onset of diastole divided by the myocardial velocity measured at the same point in the cardiac cycle. Correlates with left ventricular filling pressure. 900000000000017005 2884932011 20030731 1 900000000000207008 399023006 en 900000000000550004 Right ventricular systolic pressure calculated from the peak right ventricular-right atrial systolic gradient (from the peak tricuspid regurgitation velocity using the modified Bernoulli equation) plus estimated right atrial/central venous pressure. 900000000000017005 2884933018 20030731 1 900000000000207008 399062002 en 900000000000550004 Ratio of the Mitral Valve Acceleration Time to the Mitral Valve Deceleration Time. 900000000000017005 2884934012 20030731 1 900000000000207008 399063007 en 900000000000550004 Semi-major axis is the dimension from the widest minor axis to the apex of the left ventricle at end diastole. 900000000000017005 2884935013 20030731 1 900000000000207008 399229004 en 900000000000550004 Duration of the transmitral velocity wave during atrial contraction. 900000000000017005 2884936014 20030731 1 900000000000207008 399354002 en 900000000000550004 The time interval from the peak of the transmitral Doppler early filling velocity to the intersection with the Doppler baseline derived from the slope of the transmitral early filling wave. 900000000000017005 2884937017 20030731 1 900000000000207008 399030000 en 900000000000550004 Area measurement of the left ventricle in systole. 900000000000017005 2884938010 20030731 1 900000000000207008 399086000 en 900000000000550004 Area of the mitral annulus adjacent to the left ventricular posterolateral wall. 900000000000017005 2884939019 20030731 1 900000000000207008 399167005 en 900000000000550004 Myocardial tissue velocity by Pulsed Wave Doppler, typically adjacent to the mitral annulus, measured during left ventricular systole. 900000000000017005 2884940017 20050131 1 900000000000207008 402567004 en 900000000000550004 Self-limited vesicular eruption of palms and soles 900000000000017005 2884941018 20040731 1 900000000000207008 410619003 en 900000000000550004 Introduction of a substance or device to the surface of the body 900000000000017005 2884942013 20040731 1 900000000000207008 410614008 en 900000000000550004 The act of building something 900000000000017005 2884943015 20090131 1 900000000000207008 439397009 en 900000000000550004 Procedure for treatment of ischemic steal syndrome due to a hemodialysis fistula by creation of a bypass between the proximal portion of the artery and the distal portion of the artery 900000000000017005 2884943015 20200131 0 900000000000207008 439397009 en 900000000000550004 Procedure for treatment of ischemic steal syndrome due to a hemodialysis fistula by creation of a bypass between the proximal portion of the artery and the distal portion of the artery 900000000000017005 2884944014 20030731 1 900000000000207008 399154007 en 900000000000550004 (TCO-ET(RVOT))/ET(RVOT), where TCO is TV Closure to Opening time and ET is Ejection Time. 900000000000017005 2884944014 20150131 0 900000000000207008 399154007 en 900000000000550004 (TCO-ET(RVOT))/ET(RVOT), where TCO is TV Closure to Opening time and ET is Ejection Time. 900000000000017005 2884945010 20030731 1 900000000000207008 399200001 en 900000000000550004 Imaging plane with the transducer at the subcostal space oriented along the short axis of the left ventricle, either at the aortic valve level (base of heart) or more inferior plane of section through the left ventricle 900000000000017005 2884946011 20030731 1 900000000000207008 399367004 en 900000000000550004 Area of an orifice as calculated byOrifice area = Peak Instantaneous Flow Rate / Maximal Velocity of the Regurgitant jet at the Jet Orifice 900000000000017005 2884946011 20150131 0 900000000000207008 399367004 en 900000000000550004 Area of an orifice as calculated byOrifice area = Peak Instantaneous Flow Rate / Maximal Velocity of the Regurgitant jet at the Jet Orifice 900000000000017005 2884947019 20030731 1 900000000000207008 399266005 en 900000000000550004 (MCO-ET(Left Ventricle OT))/ET(Left Ventricle OT), where MCO is MV Closure to Opening time and ET is Ejection Time. 900000000000017005 2884947019 20150131 0 900000000000207008 399266005 en 900000000000550004 (MCO-ET(Left Ventricle OT))/ET(Left Ventricle OT), where MCO is MV Closure to Opening time and ET is Ejection Time. 900000000000017005 2884948012 20030731 1 900000000000207008 399267001 en 900000000000550004 The integral of the Doppler spectral profile of the systolic component of pulmonary venous flow. 900000000000017005 2884949016 20030731 1 900000000000207008 399309003 en 900000000000550004 Truncated semi-major axis is from widest short axis diameter to the mitral annulus plane in the left ventricle at diastole. 900000000000017005 2884950016 20080731 1 900000000000207008 399310008 en 900000000000550004 Imaging plane with transducer at subcostal space (inferior to sternum) oriented along long axis of left ventricle, which includes left ventricle and left atrium, right ventricle and right atrium, ventricular septum, and atrial septum. 900000000000017005 2884951017 20090131 1 900000000000207008 439458000 en 900000000000550004 Disease that manifests either a quantitative or a qualitative defect of factor I 900000000000017005 2884952012 20030731 1 900000000000207008 399070007 en 900000000000550004 Duration of the retrograde velocity in the pulmonary vein during atrial contraction. 900000000000017005 2884953019 20030731 1 900000000000207008 399109006 en 900000000000550004 Area measurement of the left ventricle in diastole. 900000000000017005 2884954013 20030731 1 900000000000207008 399195005 en 900000000000550004 View of the portion of the right ventricle adjacent to the pulmonic valve, the outflow portion of the RV. Common Acronym: RVOT. 900000000000017005 2884955014 20030731 1 900000000000207008 399238002 en 900000000000550004 Ratio of Pulmonic Valve Acceleration Time to Pulmonic Valve Ejection Time 900000000000017005 2884956010 20030731 1 900000000000207008 399239005 en 900000000000550004 Imaging plane with the transducer at the left sternal border oriented along the short axis of the left ventricle, at the base of the heart, IVC, atrial septum, tricuspid valve, which includes the aortic valve, right and left atria, right ventricular outflow tract and pulmonic valve, pulmonary artery, and in some patients, the LPA and RPA. 900000000000017005 2884957018 20030731 1 900000000000207008 399282006 en 900000000000550004 The time interval from the closure of the 1st Doppler spectral taken from the tricuspid valve to the opening of the 2nd Doppler spectral of the tricuspid valve. 900000000000017005 2884957018 20120731 0 900000000000207008 399282006 en 900000000000550004 The time interval from the closure of the 1st Doppler spectral taken from the tricuspid valve to the opening of the 2nd Doppler spectral of the tricuspid valve. 900000000000017005 2884958011 20030731 1 900000000000207008 399051002 en 900000000000550004 The time interval from mitral valve closure to aortic valve opening. Measured as the interval between the mitral valve closing click and the aortic valve opening click on Continuous Wave Doppler. 900000000000017005 2884959015 20030731 1 900000000000207008 399093001 en 900000000000550004 Area of the mitral annulus adjacent to the left ventricular septum and outflow tract. 900000000000017005 2884960013 20030731 1 900000000000207008 399133000 en 900000000000550004 Myocardial tissue velocity by Pulsed Wave Doppler, typically adjacent to the mitral annulus, measured in early diastole. 900000000000017005 2884961012 20030731 1 900000000000207008 399264008 en 900000000000550004 Image mode refers to the type of image acquisition (modality). For example, most ultrasound systems use 2D, Color Flow, M Mode and Doppler modes. 900000000000017005 2884962017 20030731 1 900000000000207008 399306005 en 900000000000550004 Imaging plane with the transducer at the left sternal border oriented along the short axis of the left ventricle. 900000000000017005 2884963010 20060131 1 900000000000207008 399345000 en 900000000000550004 Document title of adult echocardiography procedure (evidence) report. 900000000000017005 2884964016 20100731 1 900000000000207008 445084008 en 900000000000550004 Optical filter allowing transmission of blue light 900000000000017005 2884965015 20100731 1 900000000000207008 445340000 en 900000000000550004 Optical filter allowing transmission of yellow-green light 900000000000017005 2884966019 20100131 1 900000000000207008 443694000 en 900000000000550004 Type II diabetes mellitus in which the blood glucose levels over time exceed levels such that tests that reflect long-term variation of blood glucose, such as HbA1c, exceed limits that are expected to be achieved by available therapies 900000000000017005 2884967011 20090731 1 900000000000207008 442084003 en 900000000000550004 Victim of an intentional exertion of physical force so as to cause injury, damage or death 900000000000017005 2884968018 20100731 1 900000000000207008 445097005 en 900000000000550004 Sexual relations with a person with whom the subject has not previously had such relations within a time frame relevant to some current health issue 900000000000017005 2884969014 20100731 1 900000000000207008 445165008 en 900000000000550004 Optical filter allowing transmission of blue-green light 900000000000017005 2884970010 20100731 1 900000000000207008 445278001 en 900000000000550004 Optical filter allowing transmission of violet light 900000000000017005 2884971014 20100131 1 900000000000207008 443920001 en 900000000000550004 A simple laceration is one without any significant debris or contamination which can be repaired by a single-layer repair 900000000000017005 2884972019 20090131 1 900000000000207008 439237009 en 900000000000550004 Action taken to restore the structure and or function of a mechanical device 900000000000017005 2884973012 20100731 1 900000000000207008 445000002 en 900000000000550004 Undertaking a trip from one place to another via aircraft in the sufficiently recent past to be relevant to some current health issue 900000000000017005 2884974018 20100731 1 900000000000207008 445465004 en 900000000000550004 Optical filter allowing transmission of green light 900000000000017005 2884975017 20100731 1 900000000000207008 445279009 en 900000000000550004 Optical filter allowing transmission of red light 900000000000017005 2884976016 20100731 1 900000000000207008 445169002 en 900000000000550004 Optical filter blocking transmission of infrared radiation 900000000000017005 2884977013 20090731 1 900000000000207008 441915005 en 900000000000550004 Measurement of any function carried out by the kidney or any of its parts as opposed to the function of the whole kidney 900000000000017005 2884978015 20100131 1 900000000000207008 444422007 en 900000000000550004 Lymph nodes with foci of metastatic neoplasm that measure > 2mm 900000000000017005 2884979011 20100131 1 900000000000207008 444511005 en 900000000000550004 Number of lymph nodes with metastatic foci of neoplasm that measure > 0.2 mm but < 2 mm and/or consist of > 200 cells 900000000000017005 2884980014 20100731 1 900000000000207008 444862003 en 900000000000550004 Body mass index at or above 95th percentile as compared to children of the same age and sex 900000000000017005 2884981013 20090731 1 900000000000207008 441952005 en 900000000000550004 Poisoning due to any chemical substance as defined in the Substance hierarchy. 900000000000017005 2884982018 20100731 1 900000000000207008 445300006 en 900000000000550004 Emergency room record from admission until discharge or transfer to the ward. 900000000000017005 2884983011 20100731 1 900000000000207008 445353002 en 900000000000550004 Type II diabetes mellitus in which there are frequent, clinically significant fluctuations in blood glucose levels both above and below levels expected to be achieved by available therapies. 900000000000017005 2884984017 20100131 1 900000000000207008 444323003 en 900000000000550004 This is the revised version, published in 1976. It has a maximum score of 15. 900000000000017005 2884985016 20100131 1 900000000000207008 444074000 en 900000000000550004 Type I diabetes mellitus in which the blood glucose levels over time are kept within a range such that tests that reflect long-term variation of blood glucose, such as HbA1c, do not exceed limits that are expected to be achieved by available therapies. 900000000000017005 2884986015 20100131 1 900000000000207008 444073006 en 900000000000550004 Type I diabetes mellitus in which the blood glucose levels over time exceed levels such that tests that reflect long-term variation of blood glucose, such as HbA1c, exceed limits that are expected to be achieved by available therapies. 900000000000017005 2884987012 20100131 1 900000000000207008 444110003 en 900000000000550004 Type I diabetes mellitus in which the blood glucose levels over time are kept within a range such that tests that reflect long-term variation of blood glucose, such as HbA1c, do not exceed limits that are expected to be achieved by available therapies. 900000000000017005 2884987012 20130731 0 900000000000207008 444110003 en 900000000000550004 Type I diabetes mellitus in which the blood glucose levels over time are kept within a range such that tests that reflect long-term variation of blood glucose, such as HbA1c, do not exceed limits that are expected to be achieved by available therapies. 900000000000017005 2884988019 20100131 1 900000000000207008 444059002 en 900000000000550004 Hypercholestrolemia in which the blood cholesterol levels over time do not exceed limits that are expected to be achieved by available therapies. 900000000000017005 2884988019 20150131 0 900000000000207008 444059002 en 900000000000550004 Hypercholestrolemia in which the blood cholesterol levels over time do not exceed limits that are expected to be achieved by available therapies. 900000000000017005 2884989010 20030731 1 900000000000207008 15778005 en 900000000000550004 Goose genus 900000000000017005 2884990018 20030731 1 900000000000207008 396620009 en 900000000000550004 Duck genus 900000000000017005 2884991019 20030731 1 900000000000207008 55566008 en 900000000000550004 Accidental physical contact or exposure with potential or actual harmful effect 900000000000017005 2884992014 20100731 1 900000000000207008 445254006 en 900000000000550004 Optical filter blocking transmission of ultraviolet radiation 900000000000017005 2884993016 20100131 1 900000000000207008 444510006 en 900000000000550004 Lymph nodes with foci of metastatic neoplasm that measure ≤ 0.2 mm and consist of ≤ 200 cells 900000000000017005 2885012018 20030731 1 900000000000207008 45829000 en 900000000000550004 The act of building something 900000000000017005 2885012018 20040731 0 900000000000207008 45829000 en 900000000000550004 The act of building something 900000000000017005 2885013011 20030731 1 900000000000207008 399036006 en 900000000000550004 Imaging plane with the transducer at the left sternal border oriented along the short axis of the left ventricle, which includes the left ventricle at the level of the mitral valve leaflets, ventricular septum, and right ventricle. This plane is inferior to the aortic valve at the base of the heart. 900000000000017005 2885013011 20080731 0 900000000000207008 399036006 en 900000000000550004 Imaging plane with the transducer at the left sternal border oriented along the short axis of the left ventricle, which includes the left ventricle at the level of the mitral valve leaflets, ventricular septum, and right ventricle. This plane is inferior to the aortic valve at the base of the heart. 900000000000017005 2885014017 20040731 1 900000000000207008 47975008 en 900000000000550004 The pharyngeal part of the tongue, forming the anterior wall of the oropharynx 900000000000017005 2885014017 20080731 0 900000000000207008 47975008 en 900000000000550004 The pharyngeal part of the tongue, forming the anterior wall of the oropharynx 900000000000017005 2885015016 20030731 1 900000000000207008 399345000 en 900000000000550004 Document title of aduct echocardiography procedure (evidence) report. 900000000000017005 2885015016 20060131 0 900000000000207008 399345000 en 900000000000550004 Document title of aduct echocardiography procedure (evidence) report. 900000000000017005 2885016015 20030731 1 900000000000207008 118629009 en 900000000000550004 An education that includes hands-on practice by the recipient of the education 900000000000017005 2885016015 20060131 0 900000000000207008 118629009 en 900000000000550004 An education that includes hands-on practice by the recipient of the education 900000000000017005 2885017012 20030731 1 900000000000207008 50857004 en 900000000000550004 Tissue factor, the high-affinity receptor and cofactor for the plasma serine protease VII/VIIa 900000000000017005 2885017012 20070731 0 900000000000207008 50857004 en 900000000000550004 Tissue factor, the high-affinity receptor and cofactor for the plasma serine protease VII/VIIa 900000000000017005 2885018019 20030731 1 900000000000207008 385539003 en 900000000000550004 Determination of a value, conclusion, or inference by evaluating evidence 900000000000017005 2885018019 20040731 0 900000000000207008 385539003 en 900000000000550004 Determination of a value, conclusion, or inference by evaluating evidence 900000000000017005 2885019010 20050731 1 900000000000207008 225426007 en 900000000000550004 Introduction of a substance to the body 900000000000017005 2885019010 20080731 0 900000000000207008 225426007 en 900000000000550004 Introduction of a substance to the body 900000000000017005 2885020016 20030731 1 900000000000207008 70881005 en 900000000000550004 Greyleg goose subspecies 900000000000017005 2885020016 20090131 0 900000000000207008 70881005 en 900000000000550004 Greyleg goose subspecies 900000000000017005 2885021017 20030731 1 900000000000207008 122549002 en 900000000000550004 Disorder resulting from physical damage to the body 900000000000017005 2885021017 20050731 0 900000000000207008 122549002 en 900000000000550004 Disorder resulting from physical damage to the body 900000000000017005 2885022012 20030731 1 900000000000207008 47975008 en 900000000000550004 The part of the tongue that is on the floor of the mouth, and is not covered by mucous membrane 900000000000017005 2885022012 20080731 0 900000000000207008 47975008 en 900000000000550004 The part of the tongue that is on the floor of the mouth, and is not covered by mucous membrane 900000000000017005 2885023019 20030731 1 900000000000207008 399139001 en 900000000000550004 Imaging plane with the transducer at the left sternal border oriented along the long axis of the left ventricle, which includes the left ventricle, left atrium, aortic outflow tract and proximal aorta. Usually visualizes a small portion of the right ventricle. 900000000000017005 2885023019 20080731 0 900000000000207008 399139001 en 900000000000550004 Imaging plane with the transducer at the left sternal border oriented along the long axis of the left ventricle, which includes the left ventricle, left atrium, aortic outflow tract and proximal aorta. Usually visualizes a small portion of the right ventricle. 900000000000017005 2885024013 20030731 1 900000000000207008 399371001 en 900000000000550004 Imaging plane with the transducer at the left sternal border oriented along the short axis of the left ventricle, which includes the left ventricle at the level of the mitral chords, ventricular septum, and right ventricle. This plane is inferior to the mitral valve. 900000000000017005 2885024013 20080731 0 900000000000207008 399371001 en 900000000000550004 Imaging plane with the transducer at the left sternal border oriented along the short axis of the left ventricle, which includes the left ventricle at the level of the mitral chords, ventricular septum, and right ventricle. This plane is inferior to the mitral valve. 900000000000017005 2885025014 20030731 1 900000000000207008 68014009 en 900000000000550004 Domestic dog subspecies 900000000000017005 2885025014 20090131 0 900000000000207008 68014009 en 900000000000550004 Domestic dog subspecies 900000000000017005 2885026010 20030731 1 900000000000207008 7283002 en 900000000000550004 The pharyngeal part of the tongue, forming the anterior wall of the oropharynx 900000000000017005 2885026010 20040731 0 900000000000207008 7283002 en 900000000000550004 The pharyngeal part of the tongue, forming the anterior wall of the oropharynx 900000000000017005 2885027018 20030731 1 900000000000207008 95442007 en 900000000000550004 Disorder characterized by slowing of blood flow to a body region in association with an increase in oxygen extraction from normally saturated arterial blood 900000000000017005 2885027018 20090131 0 900000000000207008 95442007 en 900000000000550004 Disorder characterized by slowing of blood flow to a body region in association with an increase in oxygen extraction from normally saturated arterial blood 900000000000017005 2885028011 20030731 1 900000000000207008 373414000 en 900000000000550004 Increased density of lens that occurs with aging; precedes senile nuclear cataract 900000000000017005 2885028011 20040131 0 900000000000207008 373414000 en 900000000000550004 Increased density of lens that occurs with aging; precedes senile nuclear cataract 900000000000017005 2885029015 20030731 1 900000000000207008 5880005 en 900000000000550004 An observation of the body or a body part using one of the five human senses (e.g., inspection, palpation, percussion, auscultation) 900000000000017005 2885029015 20100131 0 900000000000207008 5880005 en 900000000000550004 An observation of the body or a body part using one of the five human senses (e.g., inspection, palpation, percussion, auscultation) 900000000000017005 2885030013 20030731 1 900000000000207008 56703005 en 900000000000550004 An alcohol obtained from refinement of fusel oil; contains mainly isopentyl alcohol and 2-methyl-1-butanol 900000000000017005 2885030013 20070731 0 900000000000207008 56703005 en 900000000000550004 An alcohol obtained from refinement of fusel oil; contains mainly isopentyl alcohol and 2-methyl-1-butanol 900000000000017005 2885031012 20030731 1 900000000000207008 399310008 en 900000000000550004 Imaging plane with the transducer at the subcostal space (inferior to sternum) oriented along the long axis of the left ventricle, which includes the left ventricle, left atrium, right ventricle and right atrium, septum between left and right ventricles, and septum between the left and right atria. 900000000000017005 2885031012 20080731 0 900000000000207008 399310008 en 900000000000550004 Imaging plane with the transducer at the subcostal space (inferior to sternum) oriented along the long axis of the left ventricle, which includes the left ventricle, left atrium, right ventricle and right atrium, septum between left and right ventricles, and septum between the left and right atria. 900000000000017005 2885032017 20030731 1 900000000000207008 125104001 en 900000000000550004 Greyleg goose species 900000000000017005 2885032017 20090131 0 900000000000207008 125104001 en 900000000000550004 Greyleg goose species 900000000000017005 2885033010 20030731 1 900000000000207008 46197000 en 900000000000550004 Any function or property that is not mainly morphologic or structural, including both measurable and observable features and physiologic actions 900000000000017005 2885033010 20050131 0 900000000000207008 46197000 en 900000000000550004 Any function or property that is not mainly morphologic or structural, including both measurable and observable features and physiologic actions 900000000000017005 2885034016 20030731 1 900000000000207008 118628001 en 900000000000550004 Providing knowledge to someone 900000000000017005 2885034016 20040731 0 900000000000207008 118628001 en 900000000000550004 Providing knowledge to someone 900000000000017005 2885035015 20030731 1 900000000000207008 363687006 en 900000000000550004 An inspection done with an endoscope 900000000000017005 2885035015 20090131 0 900000000000207008 363687006 en 900000000000550004 An inspection done with an endoscope 900000000000017005 2885036019 20030731 1 900000000000207008 399145009 en 900000000000550004 Imaging plane with the transducer in the suprasternal notch, oriented along the short axis of the aortic arch. This plane of section visualizes a cross-section of the aorta, long axis of the RPA, and in the pediatric patient, the left atrium and four pulmonary veins. 900000000000017005 2885036019 20080731 0 900000000000207008 399145009 en 900000000000550004 Imaging plane with the transducer in the suprasternal notch, oriented along the short axis of the aortic arch. This plane of section visualizes a cross-section of the aorta, long axis of the RPA, and in the pediatric patient, the left atrium and four pulmonary veins. 900000000000017005 2885037011 20030731 1 900000000000207008 119413000 en 900000000000550004 Hydrocarbon solvents with flash points above 38 degrees C 900000000000017005 2885037011 20070131 0 900000000000207008 119413000 en 900000000000550004 Hydrocarbon solvents with flash points above 38 degrees C 900000000000017005 2885038018 20030731 1 900000000000207008 271781008 en 900000000000550004 An assertion about the state of the patient (or the subject of study), including findings, diseases, disorders, observations, assessments, conclusions, inferences, and so forth 900000000000017005 2885038018 20040131 0 900000000000207008 271781008 en 900000000000550004 An assertion about the state of the patient (or the subject of study), including findings, diseases, disorders, observations, assessments, conclusions, inferences, and so forth 900000000000017005 2885039014 20030731 1 900000000000207008 109750005 en 900000000000550004 Noncarious lesion, where tooth is fatigued, flexed, and deformed by biomechanical loading of the tooth structure, primarily at the cervical region. These are usually wedge-shaped lesions with sharp-line angles, but sometimes are circular invaginations on occlusal surfaces. 900000000000017005 2885039014 20080731 0 900000000000207008 109750005 en 900000000000550004 Noncarious lesion, where tooth is fatigued, flexed, and deformed by biomechanical loading of the tooth structure, primarily at the cervical region. These are usually wedge-shaped lesions with sharp-line angles, but sometimes are circular invaginations on occlusal surfaces. 900000000000017005 2885040011 20030731 1 900000000000207008 82413005 en 900000000000550004 A crushing of calculi (stone). 900000000000017005 2885040011 20070731 0 900000000000207008 82413005 en 900000000000550004 A crushing of calculi (stone). 900000000000017005 2885041010 20030731 1 900000000000207008 74478000 en 900000000000550004 Anomalous flow of blood between different parts of the circulation 900000000000017005 2885041010 20090731 0 900000000000207008 74478000 en 900000000000550004 Anomalous flow of blood between different parts of the circulation 900000000000017005 2885042015 20030731 1 900000000000207008 125096009 en 900000000000550004 Intergenus cattle hybrid 900000000000017005 2885042015 20040131 0 900000000000207008 125096009 en 900000000000550004 Intergenus cattle hybrid 900000000000017005 2885043013 20030731 1 900000000000207008 95333004 en 900000000000550004 A dermatosis with pruritic sterile papules and pustules that come together to form plaques with papulovesicular borders, and a tendency toward central clearing and hyperpigmentation, with spontaneous exacerbations and remissions. Histologically variable with folliculitis of follicle sheath and perifollicular dermis and spongiosis of follicular epithelium, sometimes with peripheral leukocytosis and or eosinophilia and or eosinophilic abscesses. 900000000000017005 2885043013 20090131 0 900000000000207008 95333004 en 900000000000550004 A dermatosis with pruritic sterile papules and pustules that come together to form plaques with papulovesicular borders, and a tendency toward central clearing and hyperpigmentation, with spontaneous exacerbations and remissions. Histologically variable with folliculitis of follicle sheath and perifollicular dermis and spongiosis of follicular epithelium, sometimes with peripheral leukocytosis and or eosinophilia and or eosinophilic abscesses. 900000000000017005 2885044019 20030731 1 900000000000207008 53488008 en 900000000000550004 Abnormality in rhythm of heartbeat, including rate, regularity, and/or sequence of activation abnormalities 900000000000017005 2885044019 20040731 0 900000000000207008 53488008 en 900000000000550004 Abnormality in rhythm of heartbeat, including rate, regularity, and/or sequence of activation abnormalities 900000000000017005 2885045018 20030731 1 900000000000207008 25560004 en 900000000000550004 Self -limited vesicular eruption of palms and soles 900000000000017005 2885045018 20050131 0 900000000000207008 25560004 en 900000000000550004 Self -limited vesicular eruption of palms and soles 900000000000017005 2885046017 20030731 1 900000000000207008 108234007 en 900000000000550004 Introduction of a substance to the body 900000000000017005 2885046017 20050731 0 900000000000207008 108234007 en 900000000000550004 Introduction of a substance to the body 900000000000017005 2885047014 20030731 1 900000000000207008 95409006 en 900000000000550004 Thoracic outlet syndrome, either nerve or vessel compression, due to a cervical rib 900000000000017005 2885047014 20050131 0 900000000000207008 95409006 en 900000000000550004 Thoracic outlet syndrome, either nerve or vessel compression, due to a cervical rib 900000000000017005 2885048016 20030731 1 900000000000207008 65073006 en 900000000000550004 Introduction of a substance or device to the surface of the body 900000000000017005 2885048016 20040731 0 900000000000207008 65073006 en 900000000000550004 Introduction of a substance or device to the surface of the body 900000000000017005 2885049012 20030731 1 900000000000207008 95335006 en 900000000000550004 A decrease in lower leg circumference due to recurrent ulceration and fat necrosis causing loss of subcutaneous tissue in a patient with venous stasis disease 900000000000017005 2885049012 20040731 0 900000000000207008 95335006 en 900000000000550004 A decrease in lower leg circumference due to recurrent ulceration and fat necrosis causing loss of subcutaneous tissue in a patient with venous stasis disease 900000000000017005 2902380018 20110731 1 900000000000207008 447227007 en 900000000000550004 An otic route that begins across the tympanic cavity. 900000000000017005 2902381019 20110731 1 900000000000207008 447964005 en 900000000000550004 A route that begins anywhere in the digestive tract extending from the mouth through the rectum. 900000000000017005 2902382014 20110731 1 900000000000207008 447694001 en 900000000000550004 A route that begins within the respiratory tract, including the oropharynx and nasopharynx. 900000000000017005 2902383016 20110731 1 900000000000207008 418821007 en 900000000000550004 An intraocular route that begins in the anterior chamber of the eyeball. 900000000000017005 2902384010 20110731 1 900000000000207008 447052000 en 900000000000550004 A dental route that begins around a tooth. 900000000000017005 2902385011 20110731 1 900000000000207008 419243002 en 900000000000550004 A route that begins through the cervix. 900000000000017005 2902386012 20110731 1 900000000000207008 419778001 en 900000000000550004 An intrapulmonary tract route that begins within the bronchus. 900000000000017005 2902387015 20110731 1 900000000000207008 37161004 en 900000000000550004 An intracolonic route that begins in the rectum. 900000000000017005 2902388013 20110731 1 900000000000207008 418730005 en 900000000000550004 An intrajejunal route that begins through the nose and into the jejunum by means of a tube. 900000000000017005 2902389017 20110731 1 900000000000207008 372473007 en 900000000000550004 An oral route that begins on the moist tissue lining the oral cavity. 900000000000017005 2902390014 20110731 1 900000000000207008 418877009 en 900000000000550004 An intra-articular route that begins within the synovial cavity of a joint. 900000000000017005 2902391013 20110731 1 900000000000207008 419021003 en 900000000000550004 An intratumor route that begins within a tumor cavity. 900000000000017005 2902392018 20110731 1 900000000000207008 419762003 en 900000000000550004 A route that begins around a tendon. 900000000000017005 2902393011 20110731 1 900000000000207008 418892005 en 900000000000550004 An intracranial and intrathecal route that begins within the cisterna magna cerebellomedullaris. 900000000000017005 2902394017 20110731 1 900000000000207008 418162004 en 900000000000550004 An intracolonic and gastro-intestinal stoma route that begins through a surgically created opening into the colon (part of the large intestine measured from the cecum to the rectum). 900000000000017005 2902395016 20110731 1 900000000000207008 447122006 en 900000000000550004 A route that begins within a tumor. 900000000000017005 2902396015 20110731 1 900000000000207008 418813001 en 900000000000550004 A route that begins through a surgical drain. 900000000000017005 2902397012 20110731 1 900000000000207008 372463005 en 900000000000550004 An intra-arterial route that begins within the coronary arteries. 900000000000017005 2902398019 20110731 1 900000000000207008 372458006 en 900000000000550004 An intrauterine route that begins on the inside of the amniotic cavity. 900000000000017005 2902399010 20110731 1 900000000000207008 418204005 en 900000000000550004 A route that begins within or around the tissues surrounding the urethra. 900000000000017005 2902400015 20110731 1 900000000000207008 418287000 en 900000000000550004 A dental route that begins within a portion of a tooth which is covered by enamel and which is separated from the roots by a slightly constricted region known as the neck. 900000000000017005 2902401016 20110731 1 900000000000207008 418947002 en 900000000000550004 A route that begins within the testicles (male reproductive glands). 900000000000017005 2902402011 20110731 1 900000000000207008 372471009 en 900000000000550004 A body cavity route that begins within the bladder cavity. 900000000000017005 2902403018 20110731 1 900000000000207008 448826009 en 900000000000550004 A short contemporaneous record of surgery, often followed by a complete and detailed procedure record 900000000000017005 2902404012 20110731 1 900000000000207008 417985001 en 900000000000550004 A gastroenteral route that begins in the intestinal tract (within the small and large intestines). 900000000000017005 2902405013 20110731 1 900000000000207008 419810008 en 900000000000550004 A route that begins within the prostate gland. 900000000000017005 2902406014 20110731 1 900000000000207008 372457001 en 900000000000550004 An oral and topical route that begins on the gingivae. 900000000000017005 2902407017 20110731 1 900000000000207008 372461007 en 900000000000550004 A route that begins within a pathologic cavity. 900000000000017005 2902408010 20110731 1 900000000000207008 372452007 en 900000000000550004 A respiratory tract route that begins within the trachea. 900000000000017005 2902409019 20110731 1 900000000000207008 72607000 en 900000000000550004 An intrameningeal route that begins within the subarachnoid space in the cerebrospinal fluid, at any level of the cerebrospinal axis, including within the cerebral ventricles. 900000000000017005 2902410012 20110731 1 900000000000207008 418331006 en 900000000000550004 A periarticular route that begins within the articular cartilage. 900000000000017005 2902411011 20110731 1 900000000000207008 446435000 en 900000000000550004 An intracardiac route that begins in the endocardium. 900000000000017005 2902412016 20110731 1 900000000000207008 445755006 en 900000000000550004 A route that begins with the vascular system. 900000000000017005 2902413014 20110731 1 900000000000207008 446105004 en 900000000000550004 An ophthalmic and topical route that begins on the conjunctiva. 900000000000017005 2902414015 20110731 1 900000000000207008 419320008 en 900000000000550004 A route that begins beneath a tendon. 900000000000017005 2902415019 20110731 1 900000000000207008 445769006 en 900000000000550004 A route that begins within the dilatable spaces of the corpus cavernosa of the penis. 900000000000017005 2902416018 20110731 1 900000000000207008 419684008 en 900000000000550004 A route that begins within a ureter. 900000000000017005 2902417010 20110731 1 900000000000207008 428191002 en 900000000000550004 A topical route that begins on the skin and that has the propensity to be absorbed through the skin. 900000000000017005 2902418017 20110731 1 900000000000207008 419894000 en 900000000000550004 A route that begins within a surgical cavity. 900000000000017005 2902419013 20110731 1 900000000000207008 448077001 en 900000000000550004 A route that begins within the epidermis of the skin. 900000000000017005 2902420019 20110731 1 900000000000207008 445756007 en 900000000000550004 A meningeal route that begins within the dura. 900000000000017005 2902421015 20110731 1 900000000000207008 447080003 en 900000000000550004 A meningeal route that begins within the space surrounding the dura mater of the spinal cord. 900000000000017005 2902422010 20110731 1 900000000000207008 446407004 en 900000000000550004 An intrathoracic route that begins within the epicardium. 900000000000017005 2902423017 20110731 1 900000000000207008 445771006 en 900000000000550004 An intrathoracic route that begins within the pericardium. 900000000000017005 2902424011 20110731 1 900000000000207008 445767008 en 900000000000550004 A route that begins within the meninges. 900000000000017005 2902425012 20110731 1 900000000000207008 445754005 en 900000000000550004 An oral route that begins within the gingivae. 900000000000017005 2902426013 20110731 1 900000000000207008 447229005 en 900000000000550004 An endotracheopulmonary route that begins through the wall of the trachea. 900000000000017005 2902427016 20110731 1 900000000000207008 447931005 en 900000000000550004 Presence of either fever, hypotension, or oliguria in a patient who meets the following three criteria: blood was not cultured or no microorganism was isolated; there was no apparent infection at another site; and appropriate antimicrobial therapy for sepsis was initiated. 900000000000017005 2902428014 20110731 1 900000000000207008 446442000 en 900000000000550004 An intrauterine route for a substance that has the propensity for fetal absorption via the placenta. 900000000000017005 2902429018 20110731 1 900000000000207008 445768003 en 900000000000550004 A gastroenteral route that begins within the stomach. 900000000000017005 2902430011 20110731 1 900000000000207008 445752009 en 900000000000550004 A gastroenteral route that begins within the esophagus. 900000000000017005 2902431010 20110731 1 900000000000207008 446540005 en 900000000000550004 An intracranial route that begins within the cerebrum. 900000000000017005 2902432015 20110731 1 900000000000207008 372454008 en 900000000000550004 A digestive tract route that begins in the gastrointestinal tract (from the upper esophagus through the rectum). 900000000000017005 2902433013 20110731 1 900000000000207008 448564004 en 900000000000550004 Atresia of the pulmonary valve and/or the subvalvular region of the pulmonary valve 900000000000017005 2902434019 20110731 1 900000000000207008 448491004 en 900000000000550004 An enteral route that begins within the jejunum. 900000000000017005 2902435018 20110731 1 900000000000207008 448492006 en 900000000000550004 An enteral route that begins within the colon. 900000000000017005 2902436017 20110731 1 900000000000207008 404815008 en 900000000000550004 A route that begins on the surface of mucosal tissue and has the propensity for systemic absorption via the submucosa. 900000000000017005 2902437014 20110731 1 900000000000207008 448598008 en 900000000000550004 A topical route that begins on the skin or cutaneous wounds and/or nails and/or hair in order to obtain a local effect. 900000000000017005 2902438016 20110731 1 900000000000207008 447026006 en 900000000000550004 An enteral route that begins within the ileum. 900000000000017005 2902439012 20110731 1 900000000000207008 419954003 en 900000000000550004 An intraileal and gastro-intestinal stoma route that begins through a surgically created opening into the ileum. 900000000000017005 2902440014 20110731 1 900000000000207008 372470005 en 900000000000550004 An intraosseous route that begins within the bone marrow of the sternum. 900000000000017005 2902441013 20110731 1 900000000000207008 372460008 en 900000000000550004 A route that begins within the heart. 900000000000017005 2902442018 20110731 1 900000000000207008 418851001 en 900000000000550004 A route that begins next to the uterine cervix. 900000000000017005 2902443011 20110731 1 900000000000207008 16857009 en 900000000000550004 A route that begins in the vagina. 900000000000017005 2902444017 20110731 1 900000000000207008 127490009 en 900000000000550004 An intragastric and gastrointestinal stoma route that begins through a surgically created opening into the stomach. 900000000000017005 2902445016 20110731 1 900000000000207008 372466002 en 900000000000550004 A route that begins within a localized lesion. 900000000000017005 2902446015 20110731 1 900000000000207008 372449004 en 900000000000550004 An oral route that begins on or around the teeth or in the teeth. 900000000000017005 2902447012 20110731 1 900000000000207008 58100008 en 900000000000550004 An intravascular route that begins within an artery. 900000000000017005 2902448019 20110731 1 900000000000207008 420287000 en 900000000000550004 An intracardiac route that begins within a cardiac ventricle. 900000000000017005 2902449010 20110731 1 900000000000207008 372465003 en 900000000000550004 An intraspinal route that begins within a fibrocartilaginous intervertebral disc. 900000000000017005 2902450010 20110731 1 900000000000207008 90028008 en 900000000000550004 A route that begins within the urethra. 900000000000017005 2902451014 20110731 1 900000000000207008 37839007 en 900000000000550004 An oromucosal route that begins beneath the tongue. 900000000000017005 2902452019 20110731 1 900000000000207008 418418000 en 900000000000550004 A route that begins within the vertebral column. 900000000000017005 2902453012 20110731 1 900000000000207008 420218003 en 900000000000550004 An intraduodenal route that begins through the nose and into the duodenum, usually by means of a tube. 900000000000017005 2902454018 20110731 1 900000000000207008 404819002 en 900000000000550004 A route that begins within the bile, bile ducts or gallbladder. 900000000000017005 2902455017 20110731 1 900000000000207008 78421000 en 900000000000550004 A route that begins within a muscle. 900000000000017005 2902456016 20110731 1 900000000000207008 127491008 en 900000000000550004 An enteral and gastro-intestinal stoma route that begins through a surgically created opening in the jejunum. 900000000000017005 2902457013 20110731 1 900000000000207008 418401004 en 900000000000550004 An intraocular route that begins within the vitreous humor of the eyeball. 900000000000017005 2902458015 20110731 1 900000000000207008 12130007 en 900000000000550004 A route that begins within a joint. 900000000000017005 2902459011 20110731 1 900000000000207008 54471007 en 900000000000550004 An oromucosal route that begins on the moist tissue lining of the cheek within the oral cavity. 900000000000017005 2902460018 20110731 1 900000000000207008 47625008 en 900000000000550004 An intravascular route that begins within a vein. 900000000000017005 2902461019 20110731 1 900000000000207008 418586008 en 900000000000550004 A route that begins within a tendon. 900000000000017005 2902462014 20110731 1 900000000000207008 127492001 en 900000000000550004 An intragastric route that begins through the nose and into the stomach by means of a tube. 900000000000017005 2902463016 20110731 1 900000000000207008 420719007 en 900000000000550004 An intracerebral and intrathecal route that begins within a cerebral ventricle. 900000000000017005 2902464010 20110731 1 900000000000207008 26643006 en 900000000000550004 A digestive tract route that begins in the mouth. 900000000000017005 2902465011 20110731 1 900000000000207008 62226000 en 900000000000550004 A body cavity route that begins within the uterine cavity. 900000000000017005 2902466012 20110731 1 900000000000207008 372468001 en 900000000000550004 An ophthalmic route that begins within the eyeball. 900000000000017005 2902467015 20110731 1 900000000000207008 419231003 en 900000000000550004 A respiratory tract route that begins within the nasal or periorbital sinuses. 900000000000017005 2902468013 20110731 1 900000000000207008 420201002 en 900000000000550004 A respiratory tract route that begins within the lungs or its bronchi. 900000000000017005 2902469017 20110731 1 900000000000207008 37737002 en 900000000000550004 A route that begins within the channel of a tubular structure or tubular organ. 900000000000017005 2902470016 20110731 1 900000000000207008 372450004 en 900000000000550004 A route that begins within the canal of the cervix uteri. 900000000000017005 2902471017 20110731 1 900000000000207008 417989007 en 900000000000550004 A route that begins within the duct of a gland. 900000000000017005 2902472012 20110731 1 900000000000207008 45890007 en 900000000000550004 A topical route that begins on the skin and has the propensity for systemic absorption via the dermal layer. 900000000000017005 2902473019 20110731 1 900000000000207008 34206005 en 900000000000550004 A route that begins in subcutaneous tissue. 900000000000017005 2902474013 20110731 1 900000000000207008 418722009 en 900000000000550004 An ophthalmic route that begins around the eyeball. 900000000000017005 2902475014 20110731 1 900000000000207008 418664002 en 900000000000550004 A respiratory tract route that begins with direct application to the oropharynx. 900000000000017005 2902476010 20110731 1 900000000000207008 417950001 en 900000000000550004 A route that begins within the thorax internal to the ribs. 900000000000017005 2902477018 20110731 1 900000000000207008 416174007 en 900000000000550004 An ophthalmic route that begins beneath the orbit of the eye. 900000000000017005 2902478011 20110731 1 900000000000207008 417070009 en 900000000000550004 An intraspinal route that begins within the cauda equina. 900000000000017005 2902479015 20110731 1 900000000000207008 372459003 en 900000000000550004 A route that begins within a bursa. 900000000000017005 2902480017 20110731 1 900000000000207008 46713006 en 900000000000550004 A respiratory tract route that begins in the nasal cavity. 900000000000017005 2902481018 20110731 1 900000000000207008 420254004 en 900000000000550004 A route that begins within a non-pathologic hollow cavity, such as that of the abdominal cavity or uterus. 900000000000017005 2902482013 20110731 1 900000000000207008 420185003 en 900000000000550004 A respiratory tract route that begins on the larynx. 900000000000017005 2902483015 20110731 1 900000000000207008 420204005 en 900000000000550004 A fistula route that begins within a mucous fistula. 900000000000017005 2902484014 20110731 1 900000000000207008 418987007 en 900000000000550004 A route that begins within the skull. 900000000000017005 2902485010 20110731 1 900000000000207008 419165009 en 900000000000550004 A route that begins next to one or more vertebra. 900000000000017005 2902486011 20110731 1 900000000000207008 418114005 en 900000000000550004 An intravenous route that begins within the jugular, subclavian or femoral veins. 900000000000017005 2902487019 20110731 1 900000000000207008 419396008 en 900000000000550004 A route that begins within the abdomen. 900000000000017005 2902488012 20110731 1 900000000000207008 38239002 en 900000000000550004 A body cavity route that begins within the peritoneal cavity and that has the propensity for absorption via the peritoneal membrane. 900000000000017005 2902489016 20110731 1 900000000000207008 372451000 en 900000000000550004 An intrasinal route that begins within the nasal sinus. 900000000000017005 2902490013 20110731 1 900000000000207008 418136008 en 900000000000550004 A gastroenteral route that begins through a surgically created opening into the gastrointestinal tract. 900000000000017005 2902491012 20110731 1 900000000000207008 420047004 en 900000000000550004 A route that begins within the periosteum. 900000000000017005 2902492017 20110731 1 900000000000207008 418511008 en 900000000000550004 A urethral route that begins through the urethra. 900000000000017005 2902493010 20110731 1 900000000000207008 420163009 en 900000000000550004 An intraesophageal and gastrointestinal stoma route that begins through a surgically created opening into the esophagus. 900000000000017005 2902494016 20110731 1 900000000000207008 372467006 en 900000000000550004 A route that begins within the lymphatic vessels or nodes. 900000000000017005 2902495015 20110731 1 900000000000207008 417255000 en 900000000000550004 A route that begins within the bone. 900000000000017005 2902496019 20110731 1 900000000000207008 372476004 en 900000000000550004 An ophthalmic route that begins beneath the conjunctiva. 900000000000017005 2902497011 20110731 1 900000000000207008 418091004 en 900000000000550004 An otic route that begins within the auris media. 900000000000017005 2902498018 20110731 1 900000000000207008 419601003 en 900000000000550004 A gingival route that begins beneath the free margin of the gingivae. 900000000000017005 2902499014 20110731 1 900000000000207008 10547007 en 900000000000550004 A route that begins on, in or by way of the ear. 900000000000017005 2902500017 20110731 1 900000000000207008 372475000 en 900000000000550004 A route that begins around a nerve or nerves. 900000000000017005 2902501018 20110731 1 900000000000207008 419874009 en 900000000000550004 A route that begins beneath the mucous membrane. 900000000000017005 2902502013 20110731 1 900000000000207008 418441008 en 900000000000550004 An intragastric route that begins through the mouth and into the stomach by means of a tube. 900000000000017005 2902503015 20110731 1 900000000000207008 54485002 en 900000000000550004 A route that begins in the eye region. 900000000000017005 2902504014 20110731 1 900000000000207008 418887008 en 900000000000550004 An enteral route that begins within the duodenum. 900000000000017005 2902505010 20110731 1 900000000000207008 372464004 en 900000000000550004 A route that begins within the dermis of the skin. 900000000000017005 2902506011 20110731 1 900000000000207008 404820008 en 900000000000550004 A meningeal route that begins within the space surrounding the dura mater within the epidural space. 900000000000017005 2902507019 20110731 1 900000000000207008 6064005 en 900000000000550004 A route that begins on the surface of the body. 900000000000017005 2902508012 20110731 1 900000000000207008 60213007 en 900000000000550004 An intraosseous route that begins within the marrow cavity of a bone. 900000000000017005 2902509016 20110731 1 900000000000207008 372453002 en 900000000000550004 An intrauterine route that is introduced between the amnion and the chorion. 900000000000017005 2902510014 20110731 1 900000000000207008 445941009 en 900000000000550004 A route that begins within the liver. 900000000000017005 2902511013 20110731 1 900000000000207008 445913005 en 900000000000550004 An oral route that begins in the tongue. 900000000000017005 2902512018 20110731 1 900000000000207008 429817007 en 900000000000550004 A route that begins within the interstices of a tissue. 900000000000017005 2902513011 20110731 1 900000000000207008 418321004 en 900000000000550004 An ophthalmic route that begins behind the eyeball or pons of the eye. 900000000000017005 2902514017 20110731 1 900000000000207008 372469009 en 900000000000550004 A route that begins within the pleura or pleural space. 900000000000017005 2902515016 20110731 1 900000000000207008 372474001 en 900000000000550004 A route that begins within the tissues surrounding a joint. 900000000000017005 2902516015 20110731 1 900000000000207008 419993007 en 900000000000550004 An intravenous route that begins in a peripheral vein. 900000000000017005 2902517012 20110731 1 900000000000207008 418608002 en 900000000000550004 An ophthalmic route that begins within the cornea. 900000000000017005 2902518019 20110731 1 900000000000207008 419631009 en 900000000000550004 A route that begins within an ovary or ovaries. 900000000000017005 2902519010 20110731 1 900000000000207008 447242005 en 900000000000550004 A gastroenteral route that begins within the ruminant stomach. 900000000000017005 2902519010 20140131 0 900000000000207008 447242005 en 900000000000550004 A gastroenteral route that begins within the ruminant stomach. 900000000000017005 2902520016 20110731 1 900000000000207008 418743005 en 900000000000550004 A route that begins through a fistula. 900000000000017005 2902521017 20110731 1 900000000000207008 447121004 en 900000000000550004 A route that begins within the breast. 900000000000017005 2902522012 20110731 1 900000000000207008 420168000 en 900000000000550004 A route that begins through a surgically created opening into the urinary tract. 900000000000017005 2902523019 20110731 1 900000000000207008 418133000 en 900000000000550004 A route that begins within the myometrium. 900000000000017005 2913204014 20120131 1 900000000000207008 449808000 en 900000000000550004 Laceration of perineum during delivery involving more than 50 percent of external anal sphincter thickness 900000000000017005 2913205010 20120131 1 900000000000207008 449807005 en 900000000000550004 Laceration of perineum during delivery involving less than 50 percent of external anal sphincter thickness 900000000000017005 2913206011 20120131 1 900000000000207008 95453001 en 900000000000550004 A collection of extravascular blood in the intracranial subdural space 900000000000017005 2913207019 20120131 1 900000000000207008 449809008 en 900000000000550004 Laceration of perineum during delivery involving internal anal sphincter 900000000000017005 2913208012 20120131 1 900000000000207008 35486000 en 900000000000550004 Bleeding into the intracranial subdural space 900000000000017005 2913226010 20120131 1 900000000000207008 31092005 en 900000000000550004 An area of pseudoinfarction with congestion and parenchymal atrophy but no infarction 900000000000017005 2916661015 20120731 1 900000000000207008 450451007 en 900000000000550004 Body mass index percentile above the 85th and below the 95th percentile as compared to children of the same age and sex. 900000000000017005 2916662010 20120731 1 900000000000207008 21454007 en 900000000000550004 Bleeding into the intracranial subarachnoid space 900000000000017005 2916663017 20120731 1 900000000000207008 82999001 en 900000000000550004 Bleeding into the intracranial extradural space 900000000000017005 2916664011 20120731 1 900000000000207008 230710000 en 900000000000550004 Bleeding into the cortex or white matter of a cerebral lobe 900000000000017005 2917010019 20120731 1 900000000000207008 238850005 en 900000000000550004 A rare syndrome that presents with recurrent aphthous ulcers and relapsing polychondritis, and often but not always is accompanied by the features of Behcet's syndrome, which include genital ulcers and uveitis. 900000000000017005 2921164012 20120731 1 900000000000207008 107733003 en 900000000000550004 Introduction of object AND/OR substance into or onto body, including injection, implantation, infusion, perfusion, transfusion, irrigation, instillation, insertion, placement, replacement, packing, intubation, catheterization, cannulation. 900000000000017005 2921164012 20190731 0 900000000000207008 107733003 en 900000000000550004 Introduction of object AND/OR substance into or onto body, including injection, implantation, infusion, perfusion, transfusion, irrigation, instillation, insertion, placement, replacement, packing, intubation, catheterization, cannulation. 900000000000017005 2921165013 20120731 1 900000000000207008 12371008 en 900000000000550004 A granulomatous, inflammatory disorder of the eye; reaction to vegetable or insect hairs 900000000000017005 2921165013 20150131 0 900000000000207008 12371008 en 900000000000550004 A granulomatous, inflammatory disorder of the eye; reaction to vegetable or insect hairs 900000000000017005 2921166014 20120731 1 900000000000207008 86064000 en 900000000000550004 An autonomic plexus that is a subdivision of the aortic plexus, or derived from it, that accompanies the testicular artery. 900000000000017005 2921167017 20120731 1 900000000000207008 399282006 en 900000000000550004 The time interval from the closure of the 1st Doppler spectral taken from the tricuspid valve to the opening of the 2nd Doppler spectral of the tricuspid valve. 900000000000017005 2921168010 20120731 1 900000000000207008 8009008 en 900000000000550004 Intermittent incontinence of urine while sleeping, regardless of whether intermittent daytime urinary incontinence is also present or not. 900000000000017005 2921169019 20120731 1 900000000000207008 24981001 en 900000000000550004 An autonomic plexus that branches from the inferior mesenteric plexus; accompanies superior rectal artery to rectum. 900000000000017005 2921170018 20120731 1 900000000000207008 399104001 en 900000000000550004 The time interval from the closure of the 1st Doppler spectral taken from the mitral valve to the opening of the 2nd Doppler spectral of the mitral valve. 900000000000017005 2950921010 20130131 1 900000000000207008 471296006 en 900000000000550004 An animal action to maintain or regulate access to an item of value. 900000000000017005 2950921010 20140131 0 900000000000207008 471296006 en 900000000000550004 An animal action to maintain or regulate access to an item of value. 900000000000017005 2955721015 20130131 1 900000000000207008 473011001 en 900000000000550004 The disposition to develop an allergic reaction, the allergic reaction itself or its consequences. 900000000000017005 2955723017 20130131 1 900000000000207008 473010000 en 900000000000550004 The disposition to develop hypersensitivity or the manifestation of such a disposition. 900000000000017005 2955723017 20130731 0 900000000000207008 473010000 en 900000000000550004 The disposition to develop hypersensitivity or the manifestation of such a disposition. 900000000000017005 2956189015 20130131 1 900000000000207008 473085002 en 900000000000550004 Undertaking cruise travel in the sufficiently recent past to be relevant to a current health issue. 900000000000017005 2956685010 20130131 1 900000000000207008 17771000119103 en 900000000000550004 Myelomeningocele that occurs in the region L4 to L5. 900000000000017005 2956686011 20130131 1 900000000000207008 17761000119109 en 900000000000550004 Myelomeningocele that occurs in the region L1 to L3. 900000000000017005 2956950013 20130131 1 900000000000207008 288451000119108 en 900000000000550004 The subject attempts to persuade or coerce their child in ways that are not suitable or proper in the circumstances. 900000000000017005 2957074017 20130131 1 900000000000207008 473447008 en 900000000000550004 Attempting to persuade or coerce one's child in ways that are not suitable or proper in the circumstances. 900000000000017005 2959479013 20130731 1 900000000000207008 123471000119103 en 900000000000550004 Fever within the usual recovery period with the possibility that it is etiologically linked to the vaccination and may indicate a complication. 900000000000017005 2959480011 20130731 1 900000000000207008 130091000119103 en 900000000000550004 Fever within the usual recovery period with the possibility that it is etiologically linked to the procedure and may indicate a complication. 900000000000017005 2959481010 20130731 1 900000000000207008 609328004 en 900000000000550004 The disposition to develop an allergic reaction. 900000000000017005 2959481010 20190131 0 900000000000207008 609328004 en 900000000000550004 The disposition to develop an allergic reaction. 900000000000017005 2959484019 20130731 1 900000000000207008 609327009 en 900000000000550004 A process characterized by a humoral or cell-mediated immune response to a foreign antigen resulting in the production of specific antibodies and/or immune cells which may then lead to an allergic disposition. 900000000000017005 2959484019 20150731 0 900000000000207008 609327009 en 900000000000550004 A process characterized by a humoral or cell-mediated immune response to a foreign antigen resulting in the production of specific antibodies and/or immune cells which may then lead to an allergic disposition. 900000000000017005 2959842019 20130731 1 900000000000207008 609373006 en 900000000000550004 Good rapport with the dentist, interest in the dental procedures, laughter and enjoyment. 900000000000017005 2959843012 20130731 1 900000000000207008 609371008 en 900000000000550004 Reluctance to accept treatment, uncooperative, some evidence of negative attitude but not pronounced (sullen, withdrawn). 900000000000017005 2959844018 20130731 1 900000000000207008 191788006 en 900000000000550004 Behavioral characteristics of a boy which are considered typical of the gender role of a female. 900000000000017005 2959845017 20130731 1 900000000000207008 609372001 en 900000000000550004 Acceptance of treatment; cautious behavior at times; willingness to comply with the dentist, at times with reservation, but patient follows the dentist’s directions cooperatively. 900000000000017005 2959845017 20210131 0 900000000000207008 609372001 en 900000000000550004 Acceptance of treatment; cautious behavior at times; willingness to comply with the dentist, at times with reservation, but patient follows the dentist’s directions cooperatively. 900000000000017005 2959846016 20130731 1 900000000000207008 191789003 en 900000000000550004 Behavioral characteristics of a girl which are considered typical of the gender role of a male. 900000000000017005 2959847013 20130731 1 900000000000207008 609370009 en 900000000000550004 Refusal of treatment, forceful crying, fearfulness, or any other overt evidence of extreme negativism. 900000000000017005 2965707015 20130731 1 900000000000207008 609404002 en 900000000000550004 A type of non-immune hypersensitivity process that represents the underlying mechanism of pseudoallergic conditions 900000000000017005 2965707015 20140131 0 900000000000207008 609404002 en 900000000000550004 A type of non-immune hypersensitivity process that represents the underlying mechanism of pseudoallergic conditions 900000000000017005 2967318018 20130731 1 900000000000207008 609517002 en 900000000000550004 Abnormal proliferation of trophoblasts during pregnancy, of a type which is invasive or metastatic. 900000000000017005 2967319014 20130731 1 900000000000207008 609519004 en 900000000000550004 Disorder characterized by abnormal proliferation of trophoblasts during pregnancy, of a type which is invasive or metastatic. 900000000000017005 2967401016 20130731 1 900000000000207008 40275004 en 900000000000550004 A polymorphic pattern of inflammatory reaction of the skin in response to contact with external irritants or allergens. 900000000000017005 2967403018 20130731 1 900000000000207008 434601000124108 en 900000000000550004 Administration of steroid for advancing lung maturation in fetuses with a risk of premature birth. 900000000000017005 2967790012 20130731 1 900000000000207008 232350006 en 900000000000550004 The disposition to develop an allergic reaction to a substance derived from dust mites e.g. Der p1, rather than the dust mite organism itself. 900000000000017005 2967791011 20130731 1 900000000000207008 472963003 en 900000000000550004 An immune or non-immune mediated pathological process that represents the underlying mechanism of hypersensitivity conditions. 900000000000017005 2967792016 20130731 1 900000000000207008 609433001 en 900000000000550004 The disposition to develop hypersensitivity. 900000000000017005 2967792016 20140731 0 900000000000207008 609433001 en 900000000000550004 The disposition to develop hypersensitivity. 900000000000017005 2967793014 20130731 1 900000000000207008 419238009 en 900000000000550004 An allergy to a substance derived from an adhesive bandage rather than the physical bandage itself. 900000000000017005 2967794015 20130731 1 900000000000207008 421961002 en 900000000000550004 A pathological process initiated by exposure to a defined stimulus at a dose tolerated by normal persons. It may be the manifestation of a disposition to hypersensitivity. 900000000000017005 2967795019 20130731 1 900000000000207008 609405001 en 900000000000550004 The disposition to develop a pseudoallergic reaction, the pseudoallergic reaction itself or its consequences. 900000000000017005 2967796018 20130731 1 900000000000207008 609495006 en 900000000000550004 Complete tear of ankle ligament. 900000000000017005 2967797010 20130731 1 900000000000207008 473010000 en 900000000000550004 The disposition to develop an allergic or pseudoallergic reaction, the reaction itself or its consequences. 900000000000017005 2967798017 20130731 1 900000000000207008 29268000 en 900000000000550004 A hypersensitivity condition of skin or mucous membranes at the site of direct surface contact with irritants or allergens. A general class that includes both immunologic and non-immunologic conditions. 900000000000017005 2967799013 20130731 1 900000000000207008 609526004 en 900000000000550004 Itching sensation referred to a site distant from the stimulation site. 900000000000017005 2967800012 20130731 1 900000000000207008 1791000119105 en 900000000000550004 Microscopic tears of ankle ligament. 900000000000017005 2967801011 20130731 1 900000000000207008 145611000119107 en 900000000000550004 Migraine triggered by an allergic inflammatory process. 900000000000017005 2967802016 20130731 1 900000000000207008 402594000 en 900000000000550004 The disposition to develop an allergic reaction to a substance derived from a plant, rather than the plant itself. 900000000000017005 2967803014 20130731 1 900000000000207008 609396006 en 900000000000550004 The disposition to develop a pseudoallergic reaction. 900000000000017005 2967804015 20130731 1 900000000000207008 609406000 en 900000000000550004 A nonimmune hypersensitivity reaction directed towards a foreign substance, which results in tissue injury, which is usually transient. It is the manifestation of the pseudoallergic state. 900000000000017005 2967804015 20140131 0 900000000000207008 609406000 en 900000000000550004 A nonimmune hypersensitivity reaction directed towards a foreign substance, which results in tissue injury, which is usually transient. It is the manifestation of the pseudoallergic state. 900000000000017005 2967805019 20130731 1 900000000000207008 472965005 en 900000000000550004 A type of allergic process that results in an immune response to a foreign antigen. 900000000000017005 2967806018 20130731 1 900000000000207008 472964009 en 900000000000550004 A type of immune mediated hypersensitivity process that represents the underlying mechanism of allergic conditions. 900000000000017005 2967807010 20130731 1 900000000000207008 418176003 en 900000000000550004 An allergic reaction to an allergen substance derived from a non-food plant, rather than a reaction to the plant organism itself. 900000000000017005 2967808017 20130731 1 900000000000207008 1781000119107 en 900000000000550004 Incomplete tear of ankle ligament. 900000000000017005 2967889011 20130731 1 900000000000207008 444110003 en 900000000000550004 Type 2 diabetes mellitus in which the blood glucose levels over time are kept within a range such that tests that reflect long-term variation of blood glucose, such as HbA1c, do not exceed limits that are expected to be achieved by available therapies. 900000000000017005 2967890019 20130731 1 900000000000207008 290002008 en 900000000000550004 Type 1 diabetes mellitus in which there are frequent, clinically significant fluctuations in blood glucose levels both above and below levels expected to be achieved by available therapies. 900000000000017005 2967921011 20130731 1 900000000000207008 609389009 en 900000000000550004 A structurally abnormal heart condition, without symptoms of heart failure, that confers a high risk of progression to symptomatic heart failure. 900000000000017005 2967922016 20130731 1 900000000000207008 609585002 en 900000000000550004 A syndrome of emergence or increment of neuropsychiatric symptoms, such as confusion and behavioral disturbances, in the late afternoon, early evening or at night. 900000000000017005 2967923014 20130731 1 900000000000207008 609388001 en 900000000000550004 A condition that confers a high risk of progression to actual heart failure but lacks actual structural or functional disorder of the heart. 900000000000017005 2967929013 20130731 1 900000000000207008 9631000119102 en 900000000000550004 In response to carotid sinus baroreceptor stimulation, a ventricular pause lasting greater than 3 seconds and/or a fall in systolic BP of greater than 50 mmHg. 900000000000017005 2968070010 20130731 1 900000000000207008 419474003 en 900000000000550004 Allergic disposition to the substance derived from the mold rather than the intact mold organism itself. 900000000000017005 2968366011 20140131 1 900000000000207008 697931003 en 900000000000550004 A difference in the height of the marginal edges of adjacent teeth. 900000000000017005 2968406012 20140131 1 900000000000207008 697988001 en 900000000000550004 Stool which assumes the shape of the container. 900000000000017005 2969258013 20140131 1 900000000000207008 697964003 en 900000000000550004 A tear with a flap displaced to the vertical or horizontal direction. 900000000000017005 2970084017 20140131 1 900000000000207008 225737007 en 900000000000550004 A place where the bodies of dead persons are kept temporarily pending identification or release for burial or autopsy. 900000000000017005 2970810018 20140131 1 900000000000207008 233947005 en 900000000000550004 The persistence of thromboemboli in the form of organized tissue obstructing the pulmonary arteries, leading to an increase in pulmonary vascular resistance and progressive right heart failure. 900000000000017005 2972086014 20140131 1 900000000000207008 315058005 en 900000000000550004 Autosomal dominant disease caused by a germline mutation in a DNA mismatch repair (MMR) gene and manifest by hereditary malignancy. 900000000000017005 2972873018 20140131 1 900000000000207008 698247007 en 900000000000550004 Abnormality in rhythm of heartbeat, including rate, regularity, and/or sequence of activation abnormalities 900000000000017005 2972873018 20140731 0 900000000000207008 698247007 en 900000000000550004 Abnormality in rhythm of heartbeat, including rate, regularity, and/or sequence of activation abnormalities 900000000000017005 2973601010 20140131 1 900000000000207008 62950007 en 900000000000550004 A disorder characterized by inflammation of both the brain and the spinal cord. 900000000000017005 2973642013 20140131 1 900000000000207008 418818005 en 900000000000550004 Clinical manifestations of cardiac syncope, ventricular tachycardia, ventricular fibrillation, or sudden death in conjunction with a genetic mutation associated with Brugada Syndrome and/or a Brugada pattern ECG (spontaneous or provoked). 900000000000017005 2973775010 20140131 1 900000000000207008 698275009 en 900000000000550004 Where a significant amount of gingival tissue can be seen as a person smiles. 900000000000017005 2982402014 20140131 1 900000000000207008 237061004 en 900000000000550004 A condition occurring in women who have had a bilateral salpingo-oophorectomy, with or without hysterectomy, that leaves behind ovarian tissue. This residual ovarian tissue then results in pelvic symptoms such as pain or mass. 900000000000017005 2982403016 20140131 1 900000000000207008 69911009 en 900000000000550004 An abnormality involving one or more ovaries, occurring in women who have had a hysterectomy without bilateral oophorectomy. 900000000000017005 2983208019 20140131 1 900000000000207008 699220008 en 900000000000550004 A common taste disorder where there is a lingering, often unpleasant taste despite the absence of any stimulus to initiate the distorted taste. 900000000000017005 2983210017 20140131 1 900000000000207008 699197006 en 900000000000550004 Characterized by upper and lower incisors that have emerged forward making the teeth and lips protrude. 900000000000017005 2983211018 20140131 1 900000000000207008 699221007 en 900000000000550004 Slightly pigmented smooth or warty papules that are flesh colored and found on the upper surface of hands and feet. 900000000000017005 2983212013 20140131 1 900000000000207008 699189004 en 900000000000550004 Severe autosomal recessive intrahepatic cholestasis described in aboriginal children from northwestern Quebec. First manifestation as neonatal jaundice, progresses to periportal fibrosis and cirrhosis. 900000000000017005 2983743017 20140131 1 900000000000207008 699303006 en 900000000000550004 Making vocal utterances that are distressing sounding and socially inappropriate due to their intensity, frequency, duration and/or setting, as a manifestation of some form of brain disease, usually dementia. 900000000000017005 2983977019 20140131 1 900000000000207008 85830006 en 900000000000550004 Restoring to the extent possible the natural anatomical structure of the heart valve. Does not include heart valve replacement. 900000000000017005 2984428013 20140131 1 900000000000207008 143521000119103 en 900000000000550004 Bleeding into the tissue of the brain not due to a significant external force. Despite the word "cerebral" this includes all regions of brain tissue, not merely telencephalon. 900000000000017005 2984428013 20210930 0 900000000000207008 143521000119103 en 900000000000550004 Bleeding into the tissue of the brain not due to a significant external force. Despite the word "cerebral" this includes all regions of brain tissue, not merely telencephalon. 900000000000017005 2984883011 20140131 1 900000000000207008 699533003 en 900000000000550004 Any force that causes slippage between a pair of contiguous articulated parts in a direction that parallels the plane in which they contact 900000000000017005 2985157012 20140131 1 900000000000207008 361348008 en 900000000000550004 Space of the compartment of the trunk, enclosed by the body wall, and containing serous sacs, viscera and other organs. 900000000000017005 2985333015 20140131 1 900000000000207008 362605009 en 900000000000550004 Immaterial anatomical entity which has three spatial dimensions. 900000000000017005 2985334014 20140131 1 900000000000207008 699591004 en 900000000000550004 Anatomical cluster which has as its parts one or more anatomical structures surrounding an anatomical compartment space, and the contents of that space. 900000000000017005 2985335010 20140131 1 900000000000207008 698965000 en 900000000000550004 An anatomical space, group of spaces, or massless line or plane. 900000000000017005 2985336011 20140131 1 900000000000207008 346802004 en 900000000000550004 The anatomical compartment of the trunk, enclosed by the body wall, and containing serous sacs, viscera, and other organs of the trunk. 900000000000017005 2985337019 20140131 1 900000000000207008 699589007 en 900000000000550004 Anatomical structure which has as its parts a heterogeneous collection of organs, organ parts, cells, cell parts or body part subdivisions that are adjacent to, or continuous with one another; does not constitute a cell part, cell, tissue, organ, or body part subdivision. 900000000000017005 2985919011 20140131 1 900000000000207008 699666008 en 900000000000550004 Flattest corneal meridian defined as the axis in degrees wherein power is least and radius of curvature is longest. 900000000000017005 2985920017 20140131 1 900000000000207008 699288003 en 900000000000550004 An artificial connection from artery to vein that can sustain three consecutive two-needle cannulations with no infiltrations at the prescribed needle gauge and blood flow rate. 900000000000017005 2985921018 20140131 1 900000000000207008 699807003 en 900000000000550004 Test for assessing the strength of the knee extensor muscles. 900000000000017005 2985922013 20140131 1 900000000000207008 89461002 en 900000000000550004 Disease of the heart muscle associated with electrical or mechanical dysfunction, in which the heart is the sole or predominantly involved organ. 900000000000017005 2985923015 20140131 1 900000000000207008 699670000 en 900000000000550004 Thickening or cording of lymphatic tissues following axillary node biopsy or dissection. 900000000000017005 2985924014 20140131 1 900000000000207008 699664006 en 900000000000550004 Refractive power of the cornea at the flattest meridian defined as least power measured in diopters, and longest radius of curvature measured in mm. 900000000000017005 2985925010 20140131 1 900000000000207008 699663000 en 900000000000550004 Steepest corneal meridian defined as the axis in degrees wherein power is greatest and radius of curvature is shortest. 900000000000017005 2985926011 20140131 1 900000000000207008 699654002 en 900000000000550004 Present when both the upper and lower jaws are posterior to the normal limits of the face. 900000000000017005 2985928012 20140131 1 900000000000207008 699424002 en 900000000000550004 Superficial chemical burn or reaction to the detergent or flavoring compounds associated with use of certain brands of toothpastes. 900000000000017005 2985929016 20140131 1 900000000000207008 699662005 en 900000000000550004 Refractive power of the cornea at the steepest meridian defined as greatest power measured in diopters, and shortest radius of curvature measured in mm. 900000000000017005 2985930014 20140131 1 900000000000207008 699677002 en 900000000000550004 Creation of a fluid wave to assess response to treatment. 900000000000017005 2985931013 20140131 1 900000000000207008 699382004 en 900000000000550004 A form of amelogenesis imperfecta characterized by incomplete formation of the dental enamel and transmitted as an X-linked or autosomal dominant trait. 900000000000017005 2985933011 20140131 1 900000000000207008 699684005 en 900000000000550004 Presence of inflammation in the soft tissue surrounding a dental implant without signs of any loss of supporting bone 900000000000017005 2985933011 20220630 0 900000000000207008 699684005 en 900000000000550004 Presence of inflammation in the soft tissue surrounding a dental implant without signs of any loss of supporting bone 900000000000017005 2986148012 20140131 1 900000000000207008 699854004 en 900000000000550004 An establishment with facilities for the preparation of the dead for burial or cremation; for the viewing of the body and for funerals. 900000000000017005 2986149016 20140131 1 900000000000207008 698271000 en 900000000000550004 A disorder that affects the myocardial ion channels, altering the electrical properties of the heart and changing the ECG and/or predisposing the subject to pro-arrhythmic events. 900000000000017005 2986150016 20140131 1 900000000000207008 699828007 en 900000000000550004 Occurs where the relationship between the teeth of a normal jaw and a complete denture (or between two complete dentures) is not harmonious. 900000000000017005 2986151017 20140131 1 900000000000207008 58372006 en 900000000000550004 Placement of implant material which extends from a pulpal space into bone beyond the end of the root. 900000000000017005 2986291011 20140131 1 900000000000207008 128045006 en 900000000000550004 Inflammation located in and spreading along planes of connective tissue. In regions of the body covered by skin, it involves subcutaneous tissue and also the dermis. It may spread to deeper fascial layers and muscle. 900000000000017005 2987064010 20140131 1 900000000000207008 698055008 en 900000000000550004 An inflammatory necrotizing lesion occurring in minor salivary glands. 900000000000017005 2987065011 20140131 1 900000000000207008 32273002 en 900000000000550004 An autoimmune coagulation disorder characterized by isolated thrombocytopenia (a platelet count <100,000/microL), in the absence of any underlying disorder that may be associated with thrombocytopenia. 900000000000017005 2987155015 20140131 1 900000000000207008 36813001 en 900000000000550004 A condition in which the placenta is located over or near the internal os of the cervix, increasing the risk of hemorrhage. 900000000000017005 2987156019 20140131 1 900000000000207008 11763009 en 900000000000550004 Morbidly adherent placenta in which the chorionic villi invade into the myometrium. 900000000000017005 2987157011 20140131 1 900000000000207008 271813007 en 900000000000550004 A group of small reddish or purplish spots in skin or mucous membrane as a result of localized hemorrhage. 900000000000017005 2987158018 20140131 1 900000000000207008 22649008 en 900000000000550004 An abnormal inflammatory skin condition resulting from exposure to ultraviolet light, most commonly sunlight. May result from phototoxic or photoallergic reactions or both. 900000000000017005 2987159014 20140131 1 900000000000207008 25585008 en 900000000000550004 Morbidly adherent placenta in which the chorionic villi invade through the myometrium. 900000000000017005 2987160016 20140131 1 900000000000207008 70129008 en 900000000000550004 Morbidly adherent placenta in which the chorionic villi attach to the myometrium, rather than being restricted to the decidua basalis. 900000000000017005 2987304015 20140131 1 900000000000207008 699964009 en 900000000000550004 Acquired crosswise defect in structural continuity of a longitudinal structure. 900000000000017005 2987453016 20140131 1 900000000000207008 700007009 en 900000000000550004 The proximal segment of the lower limb which links the free lower limb to the trunk. 900000000000017005 2987454010 20140131 1 900000000000207008 61594008 en 900000000000550004 The propagation of microorganisms or of living tissue cells in media conducive to their growth. 900000000000017005 2987651013 20140131 1 900000000000207008 699877004 en 900000000000550004 The rat specific species of Pneumocystis. 900000000000017005 2988746011 20140131 1 900000000000207008 79909001 en 900000000000550004 The human specific species of Pneumocystis. 900000000000017005 2988747019 20140131 1 900000000000207008 699274002 en 900000000000550004 Increased distance between the maxillary anterior teeth and the mandibular anterior teeth in the anterior-posterior axis. 900000000000017005 2988749016 20140131 1 900000000000207008 60476005 en 900000000000550004 Increased superior-inferior overlap of the maxillary central incisors over the mandibular central incisors relative to the incisal ridges. 900000000000017005 2988750016 20140131 1 900000000000207008 698008003 en 900000000000550004 Enlargement of the parotid gland due to air insufflation. 900000000000017005 2988807015 20140131 1 900000000000207008 609406000 en 900000000000550004 A non-immune hypersensitivity reaction directed towards a foreign substance, which results in tissue injury, which is usually transient. It is the manifestation of the pseudoallergic state. 900000000000017005 2988807015 20140731 0 900000000000207008 609406000 en 900000000000550004 A non-immune hypersensitivity reaction directed towards a foreign substance, which results in tissue injury, which is usually transient. It is the manifestation of the pseudoallergic state. 900000000000017005 2988808013 20140131 1 900000000000207008 699528002 en 900000000000550004 Rapidly developing osteoporosis characterized primarily by bone marrow edema of a self-limiting nature. 900000000000017005 2988809017 20140131 1 900000000000207008 699536006 en 900000000000550004 Injury to a joint due to an extension beyond the normal range of motion 900000000000017005 2988811014 20140131 1 900000000000207008 699418008 en 900000000000550004 Incisor that has marked lateral borders occurring lingually. 900000000000017005 2988812019 20140131 1 900000000000207008 609404002 en 900000000000550004 A type of non-immune hypersensitivity process that represents the underlying mechanism of pseudoallergic conditions. 900000000000017005 2988813012 20140131 1 900000000000207008 699532008 en 900000000000550004 A fracture of the articular surface of a bone, produced by a force transmitted from the articular surface of a contiguous bone across the joint and through the articular cartilage to the subchondral trabeculae of the fractured bone. The cartilage itself is not necessarily torn. 900000000000017005 2988814018 20140131 1 900000000000207008 699381006 en 900000000000550004 An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment. 900000000000017005 2988815017 20140131 1 900000000000207008 699535005 en 900000000000550004 Injury to a joint due to flexion of a joint beyond its normal range of movement. 900000000000017005 2988816016 20140131 1 900000000000207008 699530000 en 900000000000550004 Mixture of fat and blood in a joint cavity following trauma. 900000000000017005 2988954017 20140131 1 900000000000207008 699683004 en 900000000000550004 Caries in which the lesion has removed so much of the crown that its original site of initiation cannot be determined with any certainty. 900000000000017005 2988955016 20140131 1 900000000000207008 699190008 en 900000000000550004 An autosomal dominant disorder due to a sodium channelopathy and characterized by skin flushing and severe pain. Attacks can start in infancy where the pain is typically concentrated in the lower part of the body, with progression of age the location of pain may change to affect the head and face. 900000000000017005 2988956015 20140131 1 900000000000207008 699811009 en 900000000000550004 Test for suspected osteochondritis dissecans. 900000000000017005 2988957012 20140131 1 900000000000207008 698270004 en 900000000000550004 A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder. 900000000000017005 2988958019 20140131 1 900000000000207008 431193003 en 900000000000550004 The presence of live pathogens in the blood causing significant clinical consequences such as fever, chills, or hypotension. 900000000000017005 2988959010 20140131 1 900000000000207008 446033002 en 900000000000550004 Tool used in the collection of specimen e.g. bronchoscopy. 900000000000017005 2988960017 20140131 1 900000000000207008 700050004 en 900000000000550004 Severe life-threatening illness resulting from infection, usually meningitis or sepsis, in an individual lacking a spleen, whether congenital asplenia or post-splenectomy. 900000000000017005 2989562013 20140731 1 900000000000207008 3961000119101 en 900000000000550004 Head circumference is less than two standard deviations above the mean, but appears disproportionately large when other factors such as stature are considered. 900000000000017005 2989691019 20140731 1 900000000000207008 700237005 en 900000000000550004 Occurs where a missing tooth or delayed replacement of lost teeth leads to extrusion of the opposing teeth into the edentulous space. 900000000000017005 2989692014 20140731 1 900000000000207008 700211007 en 900000000000550004 An extremely rare inherited disorder characterized by malformations of the ulnar ray, hypoplasia and dysfunction of the axillary apocrine and mammary glands, endocrine dysfunction, dental anomalies, and occasional visceral malformations. 900000000000017005 2989693016 20140731 1 900000000000207008 700242002 en 900000000000550004 Characterized by urinary retention associated with abnormal electromyographic activity in young women in the absence of overt neurologic disease. May also be associated with polycystic ovaries in some women. 900000000000017005 2989694010 20140731 1 900000000000207008 700226009 en 900000000000550004 Sexual grooming is the deliberate befriending and establishing of an emotional connection with a victim in order to sexually abuse. 900000000000017005 2989768014 20140731 1 900000000000207008 441774005 en 900000000000550004 Time when personnel begin setting up in the operating or procedure room the supplies and equipment for the next case. 900000000000017005 2989769018 20140731 1 900000000000207008 442126001 en 900000000000550004 Time at which the nursing or surgical team begins positioning or prepping the patient for the procedure. 900000000000017005 2989770017 20140731 1 900000000000207008 442272006 en 900000000000550004 Time when all preparations required prior to transport to operating or procedure facility have been completed. 900000000000017005 2989771018 20140731 1 900000000000207008 85461000119106 en 900000000000550004 An ulcerated nodule of cornea or conjunctiva. 900000000000017005 2989772013 20140731 1 900000000000207008 441765008 en 900000000000550004 Time when the anesthesia care provider begins the administration of agents intended to provide the level of anesthesia required for the scheduled procedure. 900000000000017005 2989774014 20140731 1 900000000000207008 441969007 en 900000000000550004 Time at which patient leaves operating or procedure room. 900000000000017005 2989775010 20140731 1 900000000000207008 442385007 en 900000000000550004 Time when patient enters the operating or procedure room. 900000000000017005 2989776011 20140731 1 900000000000207008 441927008 en 900000000000550004 Time at which the patient was brought into the anesthetic room. 900000000000017005 2989777019 20140731 1 900000000000207008 442431006 en 900000000000550004 Time patient is transported out of the post anesthesia care unit. 900000000000017005 2989778012 20140731 1 900000000000207008 442534000 en 900000000000550004 Time the patient arrives in the pre-procedure area of the operating room or procedure room. 900000000000017005 2989779016 20140731 1 900000000000207008 442415003 en 900000000000550004 Time of arrival in anesthetizing location of anesthesia care provider of record. 900000000000017005 2989780018 20140731 1 900000000000207008 442335003 en 900000000000550004 Time at which patient has a sufficient level of anesthesia established to begin surgical preparation of the patient, and remaining anesthetic chores do not preclude positioning and prepping. 900000000000017005 2989781019 20140731 1 900000000000207008 442463000 en 900000000000550004 Time that patient is assessed to be ready for discharge from the post anesthesia care unit. 900000000000017005 2989782014 20140731 1 900000000000207008 441869008 en 900000000000550004 Time operating room is clean and ready for setup of supplies and equipment for the next case. 900000000000017005 2989783016 20140731 1 900000000000207008 442336002 en 900000000000550004 Time at which prepping and draping have been completed and the patient is ready for the procedure or surgery to start. 900000000000017005 2989784010 20140731 1 900000000000207008 442371002 en 900000000000550004 Time the procedure is begun. 900000000000017005 2989785011 20140731 1 900000000000207008 442273001 en 900000000000550004 Time when operating or procedure room is cleaned and supplied and equipment necessary for beginning of next case are present. 900000000000017005 2989786012 20140731 1 900000000000207008 442370001 en 900000000000550004 Time when transporting service is notified to deliver the patient to the operating or procedure room. 900000000000017005 2989787015 20140731 1 900000000000207008 442275008 en 900000000000550004 The time at which the patient was transferred into the recovery area. 900000000000017005 2989788013 20140731 1 900000000000207008 441968004 en 900000000000550004 Time patient arrives at health care facility. 900000000000017005 2989789017 20140731 1 900000000000207008 442137000 en 900000000000550004 Time when all instrument and sponge counts are completed and verified as correct, all post procedure radiological studies to be done in procedure room are completed, all dressings and drains are secured, and the physician or surgeons have completed all procedure related activities on the patient. 900000000000017005 2990282018 20140731 1 900000000000207008 67681000119109 en 900000000000550004 A severe form of astigmatism. 900000000000017005 2990283011 20140731 1 900000000000207008 8611000119100 en 900000000000550004 Nonsyndromic premature fusion of multiple sutures. 900000000000017005 2990284017 20140731 1 900000000000207008 255581000119100 en 900000000000550004 Nonsyndromic premature fusion of a single suture. 900000000000017005 2990285016 20140731 1 900000000000207008 700364009 en 900000000000550004 Neurodevelopmental disorder is a behavioural and cognitive disorder with onset during the developmental period that involve impaired or aberrant development of intellectual, motor, or social functions. 900000000000017005 2990285016 20200131 0 900000000000207008 700364009 en 900000000000550004 Neurodevelopmental disorder is a behavioural and cognitive disorder with onset during the developmental period that involve impaired or aberrant development of intellectual, motor, or social functions. 900000000000017005 2990286015 20140731 1 900000000000207008 700364009 en 900000000000550004 Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involve impaired or aberrant development of intellectual, motor, or social functions. 900000000000017005 2990286015 20200131 0 900000000000207008 700364009 en 900000000000550004 Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involve impaired or aberrant development of intellectual, motor, or social functions. 900000000000017005 2990451015 20140731 1 900000000000207008 700399008 en 900000000000550004 Morphological alterations to squamous cells that fall short of low-grade dyskaryosis but that cannot be identified with certainty as the consequence of inflammatory, reactive, metaplastic, or hormonal processes. 900000000000017005 2990472017 20140731 1 900000000000207008 700400001 en 900000000000550004 Crowded cells with pseudostratification but little nuclear abnormality, or coarsely clumped chromatin with entirely normal architecture. 900000000000017005 2990555010 20140731 1 900000000000207008 307001000119105 en 900000000000550004 A tooth whose root canal system has been filled in three dimensions and where a surplus of material extrudes beyond the foramina. 900000000000017005 2990556011 20140731 1 900000000000207008 296041000119103 en 900000000000550004 Enlargement of femoral head as a result of insult to the femoral head or epiphysis in childhood. 900000000000017005 2990786019 20140731 1 900000000000207008 252005008 en 900000000000550004 A condition characterized by the herniation of the bladder into the vagina due to tearing of the tough fibrous wall between a woman's bladder and her vagina (the pubovesical fascia). 900000000000017005 2990786019 20190131 0 900000000000207008 252005008 en 900000000000550004 A condition characterized by the herniation of the bladder into the vagina due to tearing of the tough fibrous wall between a woman's bladder and her vagina (the pubovesical fascia). 900000000000017005 2990788018 20140731 1 900000000000207008 700486009 en 900000000000550004 A persons ability to walk between locations in a room. 900000000000017005 2990788018 20150131 0 900000000000207008 700486009 en 900000000000550004 A persons ability to walk between locations in a room. 900000000000017005 2990793015 20140731 1 900000000000207008 700487000 en 900000000000550004 A persons ability to walk in corridor on unit. 900000000000017005 2990793015 20150131 0 900000000000207008 700487000 en 900000000000550004 A persons ability to walk in corridor on unit. 900000000000017005 2990794014 20140731 1 900000000000207008 700467001 en 900000000000550004 Syndrome is characterized by severe headaches, with or without other acute neurological symptoms, and diffuse segmental constriction of cerebral arteries that resolves spontaneously within 3 months. 900000000000017005 2990796011 20140731 1 900000000000207008 698247007 en 900000000000550004 A disorder in which there is abnormal electrical activity in the heart. 900000000000017005 2990798012 20140731 1 900000000000207008 700473000 en 900000000000550004 Type of medicinal pill made of thick liquid that has been solidified and is meant to be consumed by light chewing and allowing it to dissolve in the mouth. 900000000000017005 2990800017 20140731 1 900000000000207008 44808001 en 900000000000550004 Any abnormal alteration of atrioventricular conduction. 900000000000017005 2990803015 20140731 1 900000000000207008 700489002 en 900000000000550004 Sensorineural deafness and male infertility caused by a deletion of genetic material on the long (q) arm of chromosome 15. 900000000000017005 2990846017 20140731 1 900000000000207008 193114000 en 900000000000550004 Persistent postural and motor experiences of the limb after physical loss. 900000000000017005 2990847014 20140731 1 900000000000207008 193116003 en 900000000000550004 Awareness of external senses of the limb after physical loss. 900000000000017005 2990848016 20140731 1 900000000000207008 700507000 en 900000000000550004 Awareness of an illusory extra limb in addition to the real regular limbs. 900000000000017005 2995945017 20140731 1 900000000000207008 278512001 en 900000000000550004 A subtype of non-spastic cerebral palsy with loss of muscular coordination with abnormal force and rhythm, and impairment of accuracy; commonly presents with gait and trunk ataxia, poor balance, past pointing, terminal intention tremor, scanning speech, nystagmus and other abnormal eye movements, and hypotonia. Low tone is a prominent feature. 900000000000017005 2995946016 20140731 1 900000000000207008 123581000119101 en 900000000000550004 Asymmetry between native breast and reconstructed breast. 900000000000017005 2995947013 20140731 1 900000000000207008 107411000119108 en 900000000000550004 Abnormality of the vulva and/or vagina caused by harmful procedures to the female genitalia for non-medical purposes, for example: pricking, piercing, incising, scraping, cauterization. 900000000000017005 2995947013 20200131 0 900000000000207008 107411000119108 en 900000000000550004 Abnormality of the vulva and/or vagina caused by harmful procedures to the female genitalia for non-medical purposes, for example: pricking, piercing, incising, scraping, cauterization. 900000000000017005 2995948015 20140731 1 900000000000207008 130611000119103 en 900000000000550004 Narrowing of the vaginal orifice with a covering seal, occurring as a result of cutting and appositioning the labia minora and/or the labia majora, with or without excision of the clitoris for non medical reasons. 900000000000017005 2995948015 20200131 0 900000000000207008 130611000119103 en 900000000000550004 Narrowing of the vaginal orifice with a covering seal, occurring as a result of cutting and appositioning the labia minora and/or the labia majora, with or without excision of the clitoris for non medical reasons. 900000000000017005 2995955018 20140731 1 900000000000207008 130631000119108 en 900000000000550004 Abnormality of vulva caused by partial or total removal of the clitoris and/or the prepuce for non medical reasons. 900000000000017005 2995955018 20200131 0 900000000000207008 130631000119108 en 900000000000550004 Abnormality of vulva caused by partial or total removal of the clitoris and/or the prepuce for non medical reasons. 900000000000017005 2995956017 20140731 1 900000000000207008 48721008 en 900000000000550004 A form of spastic cerebral palsy affecting all four limbs; the term bilateral hemiplegia may also be used when one side has a significantly different tone compared with the other. 900000000000017005 2995957014 20140731 1 900000000000207008 95041000119101 en 900000000000550004 Caused by all procedures involving partial or total removal of the external female genitalia or other injury to the female genital organs for non-medical reasons. 900000000000017005 2995959012 20140731 1 900000000000207008 702320006 en 900000000000550004 A form of spastic cerebral palsy affecting three limbs; this could be both arms and a leg, or both legs and an arm. In some instances, it has referred to one upper and one lower extremity and the face. 900000000000017005 2995960019 20140731 1 900000000000207008 702446006 en 900000000000550004 Form of acute myeloid leukemia having a shortage of all types of mature blood cells with onset in childhood or young adulthood. 900000000000017005 2995962010 20140731 1 900000000000207008 307011000119108 en 900000000000550004 A tooth whose root canal system has been inadequately obturated in any dimension, leaving large reservoirs for recontamination. 900000000000017005 2995966013 20140731 1 900000000000207008 192958009 en 900000000000550004 A form of non-spastic cerebral palsy with decreased muscle tone; noticeably "floppy" muscles with poor or no head control 900000000000017005 2995966013 20210930 0 900000000000207008 192958009 en 900000000000550004 A form of non-spastic cerebral palsy with decreased muscle tone; noticeably "floppy" muscles with poor or no head control 900000000000017005 2995968014 20140731 1 900000000000207008 702313004 en 900000000000550004 A genetic syndrome characterized by the absence of all four limbs. 900000000000017005 2995969018 20140731 1 900000000000207008 702323008 en 900000000000550004 Abrupt onset of dystonia with parkinsonism over a period of hours to days. 900000000000017005 2995970017 20140731 1 900000000000207008 130621000119105 en 900000000000550004 Abnormality of vulva caused by partial or total removal of the clitoris and the labia minora, with or without excision of the labia majora for non medical reasons. 900000000000017005 2995970017 20200131 0 900000000000207008 130621000119105 en 900000000000550004 Abnormality of vulva caused by partial or total removal of the clitoris and the labia minora, with or without excision of the labia majora for non medical reasons. 900000000000017005 2995972013 20140731 1 900000000000207008 702364003 en 900000000000550004 An autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy. 900000000000017005 2995975010 20140731 1 900000000000207008 702318008 en 900000000000550004 A form of cerebral palsy where no predominant motion can be determined; when it is a mixed CP form, i.e. spasticity with ataxia and/or dyskinesia, the child should be classified according to the dominant clinical feature 900000000000017005 2995976011 20140731 1 900000000000207008 56409008 en 900000000000550004 A form of spastic cerebral palsy affecting only one limb 900000000000017005 3004396013 20140731 1 900000000000207008 472328003 en 900000000000550004 Impaction of ulnar head against the triangular fibrocartilage complex and ulnar carpus resulting in progressive degeneration of those structures. 900000000000017005 3004527010 20140731 1 900000000000207008 254024005 en 900000000000550004 Distortion of the infantile cranium secondary to the application of prenatal and postnatal external forces. 900000000000017005 3004528017 20140731 1 900000000000207008 127701000119109 en 900000000000550004 Condition where the ulna projects more distally relative to the radius. 900000000000017005 3004819014 20140731 1 900000000000207008 72781000119105 en 900000000000550004 A painful restriction of joint motion due to post-traumatic excessive scarring. 900000000000017005 3004820015 20140731 1 900000000000207008 314621000119104 en 900000000000550004 Lack of posterior tooth contact in any occluding position of the anterior teeth. 900000000000017005 3004821016 20140731 1 900000000000207008 314611000119106 en 900000000000550004 Lack of anterior tooth contact in any occluding position of the anterior teeth. 900000000000017005 3005197017 20140731 1 900000000000207008 112581000119104 en 900000000000550004 Arthralgia of knee less than three months. 900000000000017005 3005198010 20140731 1 900000000000207008 12011000119105 en 900000000000550004 Condition where foot exhibits an arch when non-weight bearing but shows collapse of the arch in stance. 900000000000017005 3005199019 20140731 1 900000000000207008 51881000119109 en 900000000000550004 Ankle pain lasting longer than three to six months. 900000000000017005 3005200016 20140731 1 900000000000207008 25201000119104 en 900000000000550004 Condition with either the sacralization of the lowest lumbar segment or the lumbarization of the most superior sacral segment of the spine. 900000000000017005 3005201017 20140731 1 900000000000207008 702600000 en 900000000000550004 Continuous involuntary contraction of the masticatory muscle. 900000000000017005 3005431013 20140731 1 900000000000207008 702632000 en 900000000000550004 An injury to the brain which is not hereditary, congenital, or degenerative. 900000000000017005 3005487017 20140731 1 900000000000207008 702642003 en 900000000000550004 A process characterized by an initial immune response to a foreign tissue antigen of the same species resulting in the production of specific immunologic memory cells, antibodies and immune effector cells which may lead to cellular destruction or transplant rejection. 900000000000017005 3005488010 20140731 1 900000000000207008 702641005 en 900000000000550004 A process characterized by an initial immune response to a foreign or self antigen resulting in the production of specific immunologic memory cells, antibodies and immune effector cells. 900000000000017005 3005888018 20140731 1 900000000000207008 702561005 en 900000000000550004 Fracture caused by normal stress upon weakened bone. 900000000000017005 3006129019 20140731 1 900000000000207008 702788003 en 900000000000550004 Forced expiratory volume in one second (FEV1)/forced vital capacity (FVC) ratio is less than lower limits of normal (LLN), but FEV1 is more than its LLN. 900000000000017005 3006183016 20140731 1 900000000000207008 442415003 en 900000000000550004 Time of arrival in anaesthetising location of anaesthesia care provider of record. 900000000000017005 3006184010 20140731 1 900000000000207008 441868000 en 900000000000550004 Time housekeeping or room personnel begin clean up of the operating or procedure room. 900000000000017005 3006185011 20140731 1 900000000000207008 442335003 en 900000000000550004 Time at which patient has a sufficient level of anaesthesia established to begin surgical preparation of the patient, and remaining anaesthetic chores do not preclude positioning and prepping. 900000000000017005 3006186012 20140731 1 900000000000207008 702809001 en 900000000000550004 A drug hypersensitivity reaction with a relatively long latency period after exposure characterized by rash,fever, lymphadenopathy, hematologic abnormalities including eosinophilia and atypical lymphocytosis and internal organ involvement. Clinical presentation is highly variable. Eosinophilia is present in 50-90% of cases. 900000000000017005 3006186012 20150131 0 900000000000207008 702809001 en 900000000000550004 A drug hypersensitivity reaction with a relatively long latency period after exposure characterized by rash,fever, lymphadenopathy, hematologic abnormalities including eosinophilia and atypical lymphocytosis and internal organ involvement. Clinical presentation is highly variable. Eosinophilia is present in 50-90% of cases. 900000000000017005 3006187015 20140731 1 900000000000207008 442463000 en 900000000000550004 Time that patient is assessed to be ready for discharge from the post anaesthesia care unit. 900000000000017005 3006188013 20140731 1 900000000000207008 441927008 en 900000000000550004 Time at which the patient was brought into the anaesthetic room. 900000000000017005 3006189017 20140731 1 900000000000207008 441765008 en 900000000000550004 Time when the anaesthesia care provider begins the administration of agents intended to provide the level of anaesthesia required for the scheduled procedure. 900000000000017005 3006274015 20140731 1 900000000000207008 702829000 en 900000000000550004 A condition with multiple abnormalities including mild to severe intellectual disability, impaired growth from birth leading to short stature, and microcephaly. Affected individuals may also have distinctive facial features (including a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks), sensorineural hearing loss, and heart malformations 900000000000017005 3006275019 20140731 1 900000000000207008 702817009 en 900000000000550004 Average of two or more properly measured readings at each of two or more visits after an initial screen with a systolic 120 to 139 mmHg or diastolic 80 to 89 mmHg. 900000000000017005 3006690010 20140731 1 900000000000207008 702976005 en 900000000000550004 Inflammation of the temporomandibular joint in the area located posterior to the articular disc. 900000000000017005 3006691014 20140731 1 900000000000207008 702969000 en 900000000000550004 The reactivation of latent hepatitis C infection usually caused by a medicinal agent, such as an immunosuppressant. 900000000000017005 3006824010 20140731 1 900000000000207008 703039001 en 900000000000550004 Desired ultimate achievement of the health care activities in a care plan. 900000000000017005 3007005019 20140731 1 900000000000207008 702949005 en 900000000000550004 Proopiomelanocortin deficiency causes severe obesity beginning at an early age. Affected individuals also have low levels of adrenocorticotropic hormone (ACTH) and tend to have red hair and pale skin. 900000000000017005 3007169012 20140731 1 900000000000207008 51741000119105 en 900000000000550004 Ankle pain lasting less than three months. 900000000000017005 3007329018 20140731 1 900000000000207008 703132007 en 900000000000550004 An ectopic tooth that has erupted on the lingual aspect of the maxilla or mandible. 900000000000017005 3008053018 20140731 1 900000000000207008 703166003 en 900000000000550004 Formed by an abnormal connection between arteries within the dura mater and veins that normally drain the brain. 900000000000017005 3008054012 20140731 1 900000000000207008 703218000 en 900000000000550004 Characterized by severe headaches, with or without other acute neurological symptoms and diffuse segmental constriction of cerebral arteries. 900000000000017005 3008056014 20140731 1 900000000000207008 703218000 en 900000000000550004 Characterised by severe headaches, with or without other acute neurological symptoms and diffuse segmental constriction of cerebral arteries. 900000000000017005 3008057017 20140731 1 900000000000207008 703162001 en 900000000000550004 Slow escape rhythm associated with hemodynamic collapse. 900000000000017005 3008058010 20140731 1 900000000000207008 703196008 en 900000000000550004 This is a postprocedural valvular heart disease which results in the narrowing of the orifice of the tricuspid valve of the heart. It is a relatively rare condition that causes stenosis- increased resistance to blood flow through the valve. 900000000000017005 3008059019 20140731 1 900000000000207008 703234002 en 900000000000550004 A familial condition where too much aldosterone is produced by the adrenal glands which can lead to lowered levels of potassium in the blood. 900000000000017005 3008060012 20140731 1 900000000000207008 703220002 en 900000000000550004 A rare fatal amyloid disease in young people caused by a mutation in cystatin C. This condition predisposes towards intracerebral haemorrhage and dementia and is inherited in a dominant pattern. 900000000000017005 3008061011 20140731 1 900000000000207008 703178004 en 900000000000550004 This is a non-rheumatic heart valve disorder in which outflow of blood from the right ventricle of the heart is obstructed at the level of the pulmonic valve, with regurgitation. 900000000000017005 3008062016 20140731 1 900000000000207008 703156006 en 900000000000550004 Acute neurological dysfunction caused by hemorrhage localized to the subcortex, basal ganglia, and the diencephalon. 900000000000017005 3008063014 20140731 1 900000000000207008 703194006 en 900000000000550004 This refers to the postprocedural failure of the heart's tricuspid valve to close properly during systole. As a result, with each heart beat some blood passes from the right ventricle to the right atrium, the opposite of the normal direction. 900000000000017005 3008064015 20140731 1 900000000000207008 703217005 en 900000000000550004 Bleeding into the area between the arachnoid membrane and the pia mater surrounding the brain. Only intrasulcal bleeding within the hemispheric convexities, it does not result from aneurysm or trauma. 900000000000017005 3008065019 20140731 1 900000000000207008 703156006 en 900000000000550004 Acute neurological dysfunction caused by haemorrhage localised to the subcortex, basal ganglia, and the diencephalon. 900000000000017005 3008066018 20140731 1 900000000000207008 703182002 en 900000000000550004 Typically thunderclap headache recurring over 1-2 weeks, often triggered by sexual activity, exertion, Valsalva maneuvers and/or emotion. Headache can remain the sole symptom of reversible cerebral vasoconstriction syndrome. 900000000000017005 3008067010 20140731 1 900000000000207008 703220002 en 900000000000550004 A rare fatal amyloid disease in young people caused by a mutation in cystatin C. This condition predisposes towards intracerebral hemorrhage and dementia and is inherited in a dominant pattern. 900000000000017005 3008068017 20140731 1 900000000000207008 703233008 en 900000000000550004 A genetic cause of hypertension secondary to primary aldosteronism that is not suppressed with dexamethasone. Patients present with an adrenal adenoma that secretes aldosterone. 900000000000017005 3008069013 20140731 1 900000000000207008 703232003 en 900000000000550004 A rare inherited disorder due to the ectopic expression of the aldosterone synthase in the fascicular zone of the adrenal gland and marked with early severe hypertension (often occurring before the age of 20), biological signs of primary aldosteronism of variable intensity, and an abnormal elevated level of 18-oxo- and 18-hydroxycortisol. 900000000000017005 3008070014 20140731 1 900000000000207008 703186004 en 900000000000550004 This is a neopulmonary heart valve disorder in which outflow of blood from the right ventricle of the heart is obstructed at the level of the pulmonic valve. 900000000000017005 3008070014 20150131 0 900000000000207008 703186004 en 900000000000550004 This is a neopulmonary heart valve disorder in which outflow of blood from the right ventricle of the heart is obstructed at the level of the pulmonic valve. 900000000000017005 3008071013 20140731 1 900000000000207008 703192005 en 900000000000550004 This is a postprocedural heart valve disorder in which outflow of blood from the right ventricle of the heart is obstructed at the level of the pulmonic valve. 900000000000017005 3008072018 20140731 1 900000000000207008 703185000 en 900000000000550004 This is a neopulmonary condition where the pulmonary valve is not strong enough to prevent backflow to the right ventricle. 900000000000017005 3008072018 20150131 0 900000000000207008 703185000 en 900000000000550004 This is a neopulmonary condition where the pulmonary valve is not strong enough to prevent backflow to the right ventricle. 900000000000017005 3008073011 20140731 1 900000000000207008 703195007 en 900000000000550004 This refers to neoaortic valve of the heart that causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle. 900000000000017005 3008073011 20150131 0 900000000000207008 703195007 en 900000000000550004 This refers to neoaortic valve of the heart that causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle. 900000000000017005 3008074017 20140731 1 900000000000207008 703162001 en 900000000000550004 Slow escape rhythm associated with haemodynamic collapse. 900000000000017005 3008075016 20140731 1 900000000000207008 703215002 en 900000000000550004 Subarachnoid hemorrhage not due to rupture of aneurysm. 900000000000017005 3008076015 20140731 1 900000000000207008 703215002 en 900000000000550004 Subarachnoid haemorrhage not due to rupture of aneurysm. 900000000000017005 3008220019 20140731 1 900000000000207008 703256004 en 900000000000550004 A rare autosomal recessive disorder characterized by very early-onset and severe hypertension, low renin levels, low aldosterone, metabolic alkalosis, hypernatremia, and hypokalemia. 900000000000017005 3008221015 20140731 1 900000000000207008 703254001 en 900000000000550004 An autosomal dominant disease characterized by increased serum potassium levels, hypertension, short stature, increased urinary calcium excretion and hyperchloremic metabolic acidosis. 900000000000017005 3008222010 20140731 1 900000000000207008 703264005 en 900000000000550004 Osteoporosis that results from medical conditions or treatments that interfere with the attainment of peak bone mass, contributing to the structural deterioration of bone tissue. 900000000000017005 3008223017 20140731 1 900000000000207008 703256004 en 900000000000550004 A rare autosomal recessive disorder characterised by very early-onset and severe hypertension, low renin levels, low aldosterone, metabolic alkalosis, hypernatraemia, and hypokalaemia. 900000000000017005 3008224011 20140731 1 900000000000207008 703254001 en 900000000000550004 An autosomal dominant disease characterised by increased serum potassium levels, hypertension, short stature, increased urinary calcium excretion and hyperchloraemic metabolic acidosis. 900000000000017005 3008556015 20140731 1 900000000000207008 703392003 en 900000000000550004 Immature red blood cells (erythroid cells) in the bone marrow are abnormal in size, shape, organization, and/or number. 900000000000017005 3008557012 20140731 1 900000000000207008 703401001 en 900000000000550004 Insufficient distance between the peri-implant mucosa margin and the bone crest. 900000000000017005 3008558019 20140731 1 900000000000207008 703392003 en 900000000000550004 Immature red blood cells (erythroid cells) in the bone marrow are abnormal in size, shape, organisation, and/or number. 900000000000017005 3008723018 20140731 1 900000000000207008 224571005 en 900000000000550004 Nurse Practitioners (NPs), are registered nurses with additional education and experience who are able to order and interpret diagnostic tests,communicate diagnoses,prescribe pharmaceuticals and perform specific procedures. 900000000000017005 3008723018 20150131 0 900000000000207008 224571005 en 900000000000550004 Nurse Practitioners (NPs), are registered nurses with additional education and experience who are able to order and interpret diagnostic tests,communicate diagnoses,prescribe pharmaceuticals and perform specific procedures. 900000000000017005 3008724012 20140731 1 900000000000207008 703069008 en 900000000000550004 Site where general primary health care services are provided by registered nurses with additional education and experience who are able to order and interpret diagnostic tests, communicate diagnoses, prescribe pharmaceuticals and perform specific procedures. 900000000000017005 3008725013 20140731 1 900000000000207008 84261000119106 en 900000000000550004 Acute otitis media which persists after one or two empiric antimicrobial courses of treatment. 900000000000017005 3008726014 20140731 1 900000000000207008 703476007 en 900000000000550004 Daytime study for patients having difficulty tolerating positive airway pressure therapy. 900000000000017005 3008854011 20140731 1 900000000000207008 703503000 en 900000000000550004 Word or set of words by which a person is known, addressed, or referred to. 900000000000017005 3008855012 20140731 1 900000000000207008 703500002 en 900000000000550004 Coma scale for the direct assessment of overall reaction level in patients with acute brain disorders. 900000000000017005 3008857016 20140731 1 900000000000207008 408677003 en 900000000000550004 Personal name used with a family name to form a full name. 900000000000017005 3009858018 20140731 1 900000000000207008 427167008 en 900000000000550004 Hereditary angioedema without abnormal C1 inhibitor levels or function. Found mostly in females in which symptoms may be triggered by pregnancy or estrogen-containing oral contraceptives. A few cases have been associated with gain of function mutations of coagulation factor XII 900000000000017005 3009858018 20200731 0 900000000000207008 427167008 en 900000000000550004 Hereditary angioedema without abnormal C1 inhibitor levels or function. Found mostly in females in which symptoms may be triggered by pregnancy or estrogen-containing oral contraceptives. A few cases have been associated with gain of function mutations of coagulation factor XII 900000000000017005 3009860016 20140731 1 900000000000207008 703802001 en 900000000000550004 Acquired angio-oedema due to the presence of neutralising antibodies against C1 inhibitor. 900000000000017005 3009861017 20140731 1 900000000000207008 241955009 en 900000000000550004 Acquired form of angioedema due to deficiency of C1 inhibitor 900000000000017005 3009861017 20220430 0 900000000000207008 241955009 en 900000000000550004 Acquired form of angioedema due to deficiency of C1 inhibitor 900000000000017005 3009862012 20140731 1 900000000000207008 284821007 en 900000000000550004 The ability to kneel in a bath and perform activities of bathing. 900000000000017005 3009863019 20140731 1 900000000000207008 703698008 en 900000000000550004 Essure is a non-surgical procedure that accesses the fallopian tubes through the vagina and cervix and using a small catheter, a small barrier, shaped like a tiny spring, is inserted into the fallopian tubes 900000000000017005 3009863019 20160131 0 900000000000207008 703698008 en 900000000000550004 Essure is a non-surgical procedure that accesses the fallopian tubes through the vagina and cervix and using a small catheter, a small barrier, shaped like a tiny spring, is inserted into the fallopian tubes 900000000000017005 3009864013 20140731 1 900000000000207008 703629008 en 900000000000550004 A reactive fibrous lesion of adductor magnus and aponeurotic origin of the medial head of gastrocnemius of the distal femur. 900000000000017005 3009865014 20140731 1 900000000000207008 284808000 en 900000000000550004 The ability to sit in a bath and perform activities of bathing. 900000000000017005 3009867018 20140731 1 900000000000207008 703627005 en 900000000000550004 CPPD crystals are demonstrated in tissues or synovial fluid by definite means (for example, chemical analysis) or by compensated polarised light microscopy and typical calcifications are seen on radiographs. 900000000000017005 3009869015 20140731 1 900000000000207008 703802001 en 900000000000550004 Acquired angioedema due to the presence of neutralizing antibodies against C1 inhibitor. 900000000000017005 3009873017 20140731 1 900000000000207008 284815008 en 900000000000550004 The ability to stand in a bath and perform activities of bathing. 900000000000017005 3009874011 20140731 1 900000000000207008 703764006 en 900000000000550004 Near the time of peak substance concentration after administration of a substance. 900000000000017005 3009875012 20140731 1 900000000000207008 703765007 en 900000000000550004 Near the time of trough substance concentration after administration of a substance. 900000000000017005 3009876013 20140731 1 900000000000207008 82966003 en 900000000000550004 Inherited form of angioedema caused by decreased levels or function of C1 inhibitor or other mechanisms leading to increased levels of bradykinin 900000000000017005 3009876013 20200731 0 900000000000207008 82966003 en 900000000000550004 Inherited form of angioedema caused by decreased levels or function of C1 inhibitor or other mechanisms leading to increased levels of bradykinin 900000000000017005 3009881016 20140731 1 900000000000207008 703216001 en 900000000000550004 Bleeding into the area between the arachnoid membrane and the pia mater, limited to the subarachnoid spaces around the midbrain. 900000000000017005 3010066013 20140731 1 900000000000207008 419076005 en 900000000000550004 A pathological immune process generally directed towards a foreign antigen, which results in tissue injury, which is usually transient. It is the realization of the allergic disposition. It is most often applied to type I hypersensitivity but other hypersensitivity types especially type IV (e.g. allergic contact dermatitis) may be involved. 900000000000017005 3010067016 20140731 1 900000000000207008 703841004 en 900000000000550004 Class of chemicals that are analogs or derivatives of 1-phenylpropan-2-amine, including synthetic and naturally occurring amphetamines. 900000000000017005 3010068014 20140731 1 900000000000207008 703619001 en 900000000000550004 Pelvic girdle pain is experienced between the posterior iliac crest and the gluteal fold, in particular in the sacroiliac joint. The pain may radiate to the posterior thigh. The condition is generally related to pregnancy, trauma, arthritis and osteoarthritis. 900000000000017005 3010069018 20140731 1 900000000000207008 609406000 en 900000000000550004 A pathological nonimmune process generally directed towards a foreign substance, which results in tissue injury, which is usually transient. It is the realization of the pseudoallergic disposition. A variety of mechanisms such as direct histamine release, complement activation, cyclooxygenase activation and bradykinin generation may be involved. 900000000000017005 3010070017 20140731 1 900000000000207008 609433001 en 900000000000550004 The disposition to develop an allergic or pseudoallergic reaction. 900000000000017005 3010070017 20190131 0 900000000000207008 609433001 en 900000000000550004 The disposition to develop an allergic or pseudoallergic reaction. 900000000000017005 3010071018 20140731 1 900000000000207008 703842006 en 900000000000550004 Chemical racemic free base or equal parts of enantiomers levoamphetamine and dextroamphetatmine in their pure amine or salt forms. 900000000000017005 3010071018 20150131 0 900000000000207008 703842006 en 900000000000550004 Chemical racemic free base or equal parts of enantiomers levoamphetamine and dextroamphetatmine in their pure amine or salt forms. 900000000000017005 3010081019 20140731 1 900000000000207008 397678008 en 900000000000550004 Family name of person. 900000000000017005 3010082014 20140731 1 900000000000207008 703529000 en 900000000000550004 Characterization of the nature of an abnormality based on appearance, form, and structure, which may include any or all of macroscopic, cellular, and microscopic appearance, form and structure. 900000000000017005 3010083016 20140731 1 900000000000207008 702772003 en 900000000000550004 Idiopathic environmental intolerance (IEI) formerly called multiple chemical sensitivity, is a subjective illness marked by recurrent, nonspecific symptoms attributed to low levels of chemical, biologic or physical agents. 900000000000017005 3010125011 20140731 1 900000000000207008 702316007 en 900000000000550004 A form of dyskinetic cerebral palsy with irregular movements that are not repetitive or rhythmic, and tend to be more jerky and shaky. 900000000000017005 3010126012 20140731 1 900000000000207008 702321005 en 900000000000550004 A form of spastic cerebral palsy affecting all four limbs with neck and head paralysis, often accompanied by eating and breathing complications. 900000000000017005 3010127015 20140731 1 900000000000207008 75019001 en 900000000000550004 A form of dyskinetic cerebral palsy with slow, writhing movements that are often repetitive, sinuous, and rhythmic. 900000000000017005 3010128013 20140731 1 900000000000207008 371079004 en 900000000000550004 A form of spastic cerebral palsy affecting the lower half of the body, including both legs. 900000000000017005 3010129017 20140731 1 900000000000207008 702314005 en 900000000000550004 A less common type of cerebral palsy defined by decreased and/or fluctuating muscle tone; multiple forms of non-spastic cerebral palsy are each characterized by particular impairments; one of the main characteristics of non-spastic cerebral palsy is involuntary movement. Subtypes include ataxic and dyskinetic forms. 900000000000017005 3010131014 20140731 1 900000000000207008 230780007 en 900000000000550004 A subtype of non-spastic cerebral palsy with involuntary, uncontrolled recurring, and occasionally stereotyped movements with a varying muscle tone; primitive reflex patterns predominate. 900000000000017005 3010132019 20140731 1 900000000000207008 128188000 en 900000000000550004 A permanent disorder of the development of movement, posture and motor function, causing activity limitation, caused by non-progressive disturbances in the developing fetal or infant brain. 900000000000017005 3010133012 20140731 1 900000000000207008 230773005 en 900000000000550004 A type of cerebral palsy defined by increased tone and pathological reflexes resulting in an abnormal pattern of movement and posture. 900000000000017005 3010134018 20140731 1 900000000000207008 58193001 en 900000000000550004 A form of spastic cerebral palsy affecting two limbs; usually the legs are affected more than the arms. 900000000000017005 3010135017 20140731 1 900000000000207008 43486001 en 900000000000550004 A form of spastic cerebral palsy affecting the arm and/or leg on one side of the body. An ipsilateral upper and/or lower extremity is affected. 900000000000017005 3010136016 20140731 1 900000000000207008 16171003 en 900000000000550004 A form of athetoid cerebral palsy with bilateral involuntary movements. 900000000000017005 3010137013 20140731 1 900000000000207008 702317003 en 900000000000550004 A form of dyskinetic cerebral palsy with a combination of chorea and athetosis; movements are irregular, but twisting and curving. 900000000000017005 3010138015 20140731 1 900000000000207008 702315006 en 900000000000550004 A form of dyskinetic cerebral palsy with involuntary movements accompanied by an abnormal, sustained posture. 900000000000017005 3010214011 20140731 1 900000000000207008 700502006 en 900000000000550004 Internationally recognized Choice and Partnership Approach (CAPA) choice appointment for CAMHS - recording checkpoints of the process. 900000000000017005 3010215012 20140731 1 900000000000207008 702625009 en 900000000000550004 Resection of 5 to 10 grams of myocardium from the proximal ventricular septum. 900000000000017005 3010216013 20140731 1 900000000000207008 700502006 en 900000000000550004 Internationally recognised Choice and Partnership Approach (CAPA) choice appointment for CAMHS - recording checkpoints of the process. 900000000000017005 3010217016 20140731 1 900000000000207008 702575003 en 900000000000550004 An arteriopathy characterized by visual loss, progressive or episodic deafness, and abnormal fundoscopy. 900000000000017005 3010218014 20140731 1 900000000000207008 702319000 en 900000000000550004 A form of spastic cerebral palsy affecting both sides of the body; the Surveillance of Cerebral Palsy in Europe (SCPE) does not recommend the use of diplegia/quadriplegia terms, and recommends using instead the term bilateral spastic cerebral palsy and subtypes. 900000000000017005 3010219018 20140731 1 900000000000207008 702575003 en 900000000000550004 An arteriopathy characterised by visual loss, progressive or episodic deafness, and abnormal fundoscopy. 900000000000017005 3010220012 20140731 1 900000000000207008 703749006 en 900000000000550004 The Infant Behavioral Assessment and Intervention Program (IBAIP) is an education and training program for health care and community early intervention professionals to support these specialists, as well as parents. 900000000000017005 3010221011 20140731 1 900000000000207008 703801008 en 900000000000550004 Acquired angioedema due to activation of the classical complement pathway related to an underlying lymphoreticular disorder particularly lymphoma or monoclonal gammopathy of unknown significance (MGUS) 900000000000017005 3010222016 20140731 1 900000000000207008 703749006 en 900000000000550004 The Infant Behavioural Assessment and Intervention Programme (IBAIP) is an education and training programme for health care and community early intervention professionals to support these specialists, as well as parents. 900000000000017005 3012492018 20150131 1 900000000000207008 704243004 en 900000000000550004 Full animal head, decapitated and removed from body. 900000000000017005 3012493011 20150131 1 900000000000207008 703884003 en 900000000000550004 A biofield therapy that relies upon a belief in an invisible energy that may be transmitted from healer to patient through intention. 900000000000017005 3012494017 20150131 1 900000000000207008 308698004 en 900000000000550004 Subjective experience of excessive gas which is passed as flatus. 900000000000017005 3012495016 20150131 1 900000000000207008 264287008 en 900000000000550004 Material shed by animals that is comprised of some combination of dead skin, dried salivary proteins, hair, sebum, urine and microorganisms. 900000000000017005 3012496015 20150131 1 900000000000207008 703955006 en 900000000000550004 A way for prescriptions for medical practitioners to be ordered by phone call to pharmacy 900000000000017005 3012497012 20150131 1 900000000000207008 392481002 en 900000000000550004 A rare disorder of the eye in which the endothelium lining the interior of the cornea proliferates causing unusually high pressure in the eye, distortion of the iris and corneal oedema. 900000000000017005 3012498019 20150131 1 900000000000207008 703985001 en 900000000000550004 A first aid technique to unblock the airway in cases of choking. when abdominal thrusts would be dangerous (such as in infants) or impossible (such as in pregnant women). In a chest thrust, the first-aider places a fist in the other hand, and, pressing against the victim’s lower breastbone, thrusts the chest wall inwards up to five times. The pressure simulates the coughing reflex and may expel the obstruction. 900000000000017005 3012498019 20210131 0 900000000000207008 703985001 en 900000000000550004 A first aid technique to unblock the airway in cases of choking. when abdominal thrusts would be dangerous (such as in infants) or impossible (such as in pregnant women). In a chest thrust, the first-aider places a fist in the other hand, and, pressing against the victim’s lower breastbone, thrusts the chest wall inwards up to five times. The pressure simulates the coughing reflex and may expel the obstruction. 900000000000017005 3012499010 20150131 1 900000000000207008 704190008 en 900000000000550004 A rare solid tumor like condition seen in young women, characterized by an accumulation of fluid within the ovarian stroma separating normal follicular structures. 900000000000017005 3012500018 20150131 1 900000000000207008 704076007 en 900000000000550004 Physical stance often assumed by people experiencing respiratory distress or who are simply out of breath. In this position, a person sits or stands leaning forward and supports the upper body with hands on knees or other surface. 900000000000017005 3012501019 20150131 1 900000000000207008 392481002 en 900000000000550004 A rare disorder of the eye in which the endothelium lining the interior of the cornea proliferates causing unusually high pressure in the eye, distortion of the iris and corneal edema. 900000000000017005 3012502014 20150131 1 900000000000207008 704190008 en 900000000000550004 A rare solid tumour like condition seen in young women, characterised by an accumulation of fluid within the ovarian stroma separating normal follicular structures. 900000000000017005 3012969010 20150131 1 900000000000012004 704325000 en 900000000000550004 This attribute is used to specify the denominator of a relational property type, such as a ratio or proportion. 900000000000017005 3012970011 20150131 1 900000000000012004 246501002 en 900000000000550004 This attribute is used to specify the systematic method of a procedure used to accomplish a specific activity. 900000000000017005 3012971010 20150131 1 900000000000207008 704366000 en 900000000000550004 Disclosing information about oneself that is seen as a violation of social norms. 900000000000017005 3012973013 20150131 1 900000000000012004 704318007 en 900000000000550004 This attribute is used to specify the type of inherent quality or process that is to be observed. Its values are abstract types of quality (length, odor, concentration) or abstract types of process features (rate, speed), and do not include qualities that are located (length of arm, odor of urine), or given a value (elevated concentration). 900000000000017005 3012974019 20150131 1 900000000000012004 704347000 en 900000000000550004 This attribute specifies the direct object of an observation procedure. 900000000000017005 3012976017 20150131 1 900000000000012004 704346009 en 900000000000550004 This attribute specifies the observation procedure that defines an observable entity. 900000000000017005 3012977014 20150131 1 900000000000012004 704322002 en 900000000000550004 This attribute is used to specify the continuant (such as a body structure or organism) that is causally active in the process on which the property depends. 900000000000017005 3012978016 20150131 1 900000000000012004 704324001 en 900000000000550004 This attribute specifies the substance produced by the process characterized by the observable property type. 900000000000017005 3012978016 20160131 0 900000000000012004 704324001 en 900000000000550004 This attribute specifies the substance produced by the process characterized by the observable property type. 900000000000017005 3012979012 20150131 1 900000000000012004 704323007 en 900000000000550004 This attribute specifies the duration of the process characterized by the observable property type. 900000000000017005 3012980010 20150131 1 900000000000012004 246514001 en 900000000000550004 This attribute represents the units used in assigning a value to an observation. 900000000000017005 3012981014 20150131 1 900000000000012004 704326004 en 900000000000550004 This attribute is used to specify body state, timing, challenges, and other situations that must be true of the entity to be observed. 900000000000017005 3012982019 20150131 1 900000000000012004 704321009 en 900000000000550004 This attribute specifies the process which the property describes, and on which the property (of this observable) depends. The process can be very general. 900000000000017005 3012983012 20150131 1 900000000000012004 370132008 en 900000000000550004 This attribute refers to the scale of the result of an observation or a diagnostic test. 900000000000017005 3012985017 20150131 1 900000000000012004 704327008 en 900000000000550004 This attribute represents the specific entity on which the observation is directly made, and is used when the observation is indirect, such as when a direct observation is not possible to be done on the entity in which the observable inheres. 900000000000017005 3013031012 20150131 1 900000000000207008 704368004 en 900000000000550004 A purposeful and often repeated attempt to leave a healthcare setting. 900000000000017005 3013032017 20150131 1 900000000000207008 704369007 en 900000000000550004 Mental and physical fatigue from prolonged or difficult treatment. 900000000000017005 3013243016 20150131 1 900000000000207008 12371008 en 900000000000550004 A granulomatous, inflammatory disorder of the eye; reaction to vegetable or insect hairs. 900000000000017005 3013657014 20150131 1 900000000000207008 704491001 en 900000000000550004 Traditional therapy is often called complementary or alternative therapy. It is the knowledge, skills and practices based on the theories, beliefs, and experiences indigenous to different cultures used in the maintenance of health and prevention, diagnosis, improvement or treatment of physical and mental illness. 900000000000017005 3014179012 20150131 1 900000000000207008 704682009 en 900000000000550004 At risk of injury when moving location. 900000000000017005 3014183012 20150131 1 900000000000207008 704676006 en 900000000000550004 Nurse controlled analgesia is a technique by which the nurse or health professional licensed to administer medications, gives the patient a pre-programmed amount of an intravenous or subcutaneous analgesic solution as a bolus dose by the press of a button. 900000000000017005 3014184018 20150131 1 900000000000207008 704674009 en 900000000000550004 Failure to follow the predictable course of grieving to resolution. 900000000000017005 3014185017 20150131 1 900000000000207008 704681002 en 900000000000550004 At risk of negative quality of life in terms of health and happiness, measured by a person's ability to enjoy normal life activities. 900000000000017005 3015045015 20150131 1 900000000000207008 367522007 en 900000000000550004 Inflammation of skin adjacent to an infectious site by autoinoculation; appears as eczematous plaque with or without vesicles 900000000000017005 3015046019 20150131 1 900000000000207008 704679004 en 900000000000550004 Knowledge of the process encompassing motivation, will and actions necessary to abandon behaviors that compromise health and to adopt behaviors that maintain and enhance health. 900000000000017005 3015047011 20150131 1 900000000000207008 704679004 en 900000000000550004 Knowledge of the process encompassing motivation, will and actions necessary to abandon behaviours that compromise health and to adopt behaviours that maintain and enhance health. 900000000000017005 3015091011 20150131 1 900000000000207008 44247006 en 900000000000550004 Fetus with birthweight of 1000-2499 grams AND/OR gestation of 28-37 weeks 900000000000017005 3015092016 20150131 1 900000000000207008 44247006 en 900000000000550004 Foetus with birthweight of 1000-2499 grammes AND/OR gestation of 28-37 weeks 900000000000017005 3015118019 20150131 1 900000000000207008 705000008 en 900000000000550004 Lack of ability to exercise restraint or control over feelings, emotions or reactions. 900000000000017005 3015196016 20150131 1 900000000000207008 129561000119108 en 900000000000550004 Pre-renal acute kidney injury (AKI), also called acute renal failure, occurs when a sudden reduction in blood flow to the kidney (renal hypoperfusion) causes a loss of kidney function. In pre-renal acute kidney injury, there is nothing wrong with the kidney itself. 900000000000017005 3015196016 20200731 0 900000000000207008 129561000119108 en 900000000000550004 Pre-renal acute kidney injury (AKI), also called acute renal failure, occurs when a sudden reduction in blood flow to the kidney (renal hypoperfusion) causes a loss of kidney function. In pre-renal acute kidney injury, there is nothing wrong with the kidney itself. 900000000000017005 3015242011 20150131 1 900000000000207008 399363000 en 900000000000550004 Fetal death after 22 week gestation affecting management of mother 900000000000017005 3015244012 20150131 1 900000000000207008 399363000 en 900000000000550004 Foetal death after 22 week gestation affecting management of mother 900000000000017005 3015245013 20150131 1 900000000000207008 705016005 en 900000000000550004 A difficult or dangerous health situation that needs urgent attention. 900000000000017005 3015294013 20150131 1 900000000000207008 705039004 en 900000000000550004 The caregiver's attitude conflicts with the patient and/or the treatment plan. 900000000000017005 3015480010 20150131 1 900000000000207008 108051000119101 en 900000000000550004 Laterognathia is understood as a lateral crossbite of individual or all side teeth with mandibular dislocation of the lower jaw's centre. 900000000000017005 3023072013 20150131 1 900000000000207008 427565006 en 900000000000550004 Fetal heart rate variability not detected during intrapartum fetal heart monitoring. 900000000000017005 3023619013 20150131 1 900000000000207008 705172001 en 900000000000550004 Collection of urine specimen via cystostomy tube 900000000000017005 3023620019 20150131 1 900000000000207008 705156009 en 900000000000550004 Collection of urine using a sterile single use catheter 900000000000017005 3023620019 20210131 0 900000000000207008 705156009 en 900000000000550004 Collection of urine using a sterile single use catheter 900000000000017005 3027265016 20150131 1 900000000000207008 706873003 en 900000000000550004 State of severe distress associated with events that threaten the intactness of the person, can be physical, mental, or emotional. 900000000000017005 3027312013 20150131 1 900000000000207008 705013002 en 900000000000550004 ST segment elevation in leads I and/or aVL with ST segment elevation in leads II and/or III and/or aVF. 900000000000017005 3027313015 20150131 1 900000000000207008 705012007 en 900000000000550004 ST segment elevation in precordial leads (V2-5) with ST segment elevation in leads II and/or III and/or aVF. 900000000000017005 3027314014 20150131 1 900000000000207008 705007006 en 900000000000550004 ST segment elevation in leads II and/or III and/or aVF. 900000000000017005 3027315010 20150131 1 900000000000207008 705006002 en 900000000000550004 ST segment elevation in lead I and/or precordial leads V5-8 and/or aVL. 900000000000017005 3027632016 20150131 1 900000000000207008 706893006 en 900000000000550004 Intimate partner abuse is defined as physical, sexual or psychological harm perpetrated by a current or former partner. The abuse can occur among heterosexual or same-sex couples and does not require sexual intimacy. 900000000000017005 3027633014 20150131 1 900000000000207008 399266005 en 900000000000550004 Index calculated as (MCO-ET(Left Ventricle OT))/ET(Left Ventricle OT), where MCO is MV Closure to Opening time and ET is Ejection Time. 900000000000017005 3027635019 20150131 1 900000000000207008 399154007 en 900000000000550004 Index calculated as (TCO-ET(RVOT))/ET(RVOT), where TCO is TV Closure to Opening time and ET is Ejection Time. 900000000000017005 3027636018 20150131 1 900000000000207008 706892001 en 900000000000550004 Intimate partner abuse is defined as physical, sexual or psychological harm perpetrated by a current or former partner. The abuse can occur among heterosexual or same-sex couples and does not require sexual intimacy. 900000000000017005 3027636018 20150731 0 900000000000207008 706892001 en 900000000000550004 Intimate partner abuse is defined as physical, sexual or psychological harm perpetrated by a current or former partner. The abuse can occur among heterosexual or same-sex couples and does not require sexual intimacy. 900000000000017005 3027849013 20150131 1 900000000000207008 706906006 en 900000000000550004 No progress has been made towards the targeted objective. 900000000000017005 3027850013 20150131 1 900000000000207008 706905005 en 900000000000550004 The targeted objective cannot be achieved. 900000000000017005 3027851012 20150131 1 900000000000207008 706908007 en 900000000000550004 There has been some digression away from the targeted objective. 900000000000017005 3027959010 20150131 1 900000000000207008 706923002 en 900000000000550004 Continuous atrial fibrillation of greater than 12 months duration. 900000000000017005 3027960017 20150131 1 900000000000207008 706886007 en 900000000000550004 Bone fracture not accompanied by a break in the skin. 900000000000017005 3028069016 20150131 1 900000000000207008 706970001 en 900000000000550004 The absence of staining for estrogen receptor, progesterone receptor, and hormone epidermal growth factor receptor 2 (HER2/neu) 900000000000017005 3028069016 20190731 0 900000000000207008 706970001 en 900000000000550004 The absence of staining for estrogen receptor, progesterone receptor, and hormone epidermal growth factor receptor 2 (HER2/neu) 900000000000017005 3028153014 20150131 1 900000000000207008 235865005 en 900000000000550004 Acute hepatitis D infection in carrier person with chronic hepatitis B virus infection. 900000000000017005 3028154015 20150131 1 900000000000207008 47382004 en 900000000000550004 Fungal infection of the skin. 900000000000017005 3028154015 20210731 0 900000000000207008 47382004 en 900000000000550004 Fungal infection of the skin. 900000000000017005 3028641011 20150131 1 900000000000207008 49864004 en 900000000000550004 A galloping sound on cardiac auscultation because of an abnormally audible third heart sound. 900000000000017005 3028643014 20150131 1 900000000000207008 399064001 en 900000000000550004 A two dimensional cross section view made up of numerous brightness mode scan lines. 900000000000017005 3028644015 20150131 1 900000000000207008 86588008 en 900000000000550004 Fascia enclosing the extraocular muscles. 900000000000017005 3028645019 20150131 1 900000000000207008 444059002 en 900000000000550004 Hypercholesterolemia in which the blood cholesterol levels over time do not exceed limits that are expected to be achieved by available therapies. 900000000000017005 3028646018 20150131 1 900000000000207008 399287000 en 900000000000550004 Calculated as the (Diastolic Area – Systolic Area) / Diastolic Area. 900000000000017005 3028647010 20150131 1 900000000000207008 95323007 en 900000000000550004 Hard non pitting edema and induration of the skin; a finding associated with Buschke’s disease. 900000000000017005 3028647010 20210131 0 900000000000207008 95323007 en 900000000000550004 Hard non pitting edema and induration of the skin; a finding associated with Buschke’s disease. 900000000000017005 3028648017 20150131 1 900000000000207008 64157005 en 900000000000550004 Autonomic plexi that are part of the celiac plexus that lies on the greater and lesser curvatures of the stomach. 900000000000017005 3028649013 20150131 1 900000000000207008 7119001 en 900000000000550004 Disease of skin in someone with Lupus erythematosus, though not necessarily systemic or subacute. 900000000000017005 3028650013 20150131 1 900000000000207008 399367004 en 900000000000550004 Area of an orifice as calculated by Orifice area = Peak Instantaneous Flow Rate / Maximal Velocity of the Regurgitant jet at the Jet Orifice. 900000000000017005 3028651012 20150131 1 900000000000207008 4592006 en 900000000000550004 A galloping sound on cardiac auscultation because of an abnormally audible fourth heart sound. 900000000000017005 3028652017 20150131 1 900000000000207008 703842006 en 900000000000550004 Chemical racemic free base or equal parts of enantiomers levoamphetamine and dextroamphetamine in their pure amine or salt forms. 900000000000017005 3028653010 20150131 1 900000000000207008 702809001 en 900000000000550004 A drug hypersensitivity reaction with a relatively long latency period after exposure characterized by rash, fever, lymphadenopathy, hematologic abnormalities including eosinophilia and atypical lymphocytosis and internal organ involvement. Clinical presentation is highly variable. Eosinophilia is present in 50-90% of cases. 900000000000017005 3028654016 20150131 1 900000000000207008 705008001 en 900000000000550004 ST segment elevation in precordial leads. 900000000000017005 3028655015 20150131 1 900000000000207008 444059002 en 900000000000550004 Hypercholesterolaemia in which the blood cholesterol levels over time do not exceed limits that are expected to be achieved by available therapies. 900000000000017005 3028911012 20150131 1 900000000000207008 707144009 en 900000000000550004 The condition of a natural tooth as it relates to its position and strength to serve as an abutment for a fixed prosthesis. 900000000000017005 3028913010 20150131 1 900000000000207008 707147002 en 900000000000550004 Congenital or functional absence of spleen 900000000000017005 3029216015 20150131 1 900000000000207008 707193004 en 900000000000550004 A natural tooth that will be used as a retainer for a fixed prosthesis. A tooth that is well aligned, but has had previous restorations or other damage in 3 sextants of the tooth that reduce its potential strength. 900000000000017005 3029217012 20150131 1 900000000000207008 707194005 en 900000000000550004 A natural tooth that will be used as a retainer for a fixed prosthesis. A tooth that is well aligned, but has had previous restorations or other damage in 1 or 2 sextants of the tooth that reduce its potential strength. 900000000000017005 3029218019 20150131 1 900000000000207008 707195006 en 900000000000550004 A natural tooth that will be used as a retainer for a fixed prosthesis. A tooth that is well aligned, but has had previous restorations or other damage to 4 or more sextants of the tooth that reduce its potential strength. 900000000000017005 3029219010 20150131 1 900000000000207008 707190001 en 900000000000550004 A natural tooth that will be used as a retainer for a fixed prosthesis. A tooth that is well aligned with no previous restorations or other damage that would compromise its strength. 900000000000017005 3029220016 20150131 1 900000000000207008 707192009 en 900000000000550004 A natural tooth that will be used as a retainer for a fixed prosthesis. A tooth that may have had limited previous treatment or is not perfectly aligned. 900000000000017005 3029631018 20150131 1 900000000000207008 707276009 en 900000000000550004 A very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita, characterised by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anaemia. 900000000000017005 3029632013 20150131 1 900000000000207008 707276009 en 900000000000550004 A very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita, characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia. 900000000000017005 3029876016 20150131 1 900000000000207008 707301001 en 900000000000550004 Lupus erythematosus affecting oral mucosa. This may be associated with either cutaneous or systemic lupus erythematosus and presents most commonly as mucosal ulceration. 900000000000017005 3029877013 20150131 1 900000000000207008 707318002 en 900000000000550004 A form of chronic oral candidosis involving multiple oral sites with angular cheilitis, retrocommissural leukoplakia, median rhomboid glossitis and palatal lesions. 900000000000017005 3030133019 20150131 1 900000000000207008 707436001 en 900000000000550004 A small vessel vasculitis restricted to the lungs that may induce diffuse alveolar hemorrhage without any underlying systemic disease. 900000000000017005 3030134013 20150131 1 900000000000207008 707436001 en 900000000000550004 A small vessel vasculitis restricted to the lungs that may induce diffuse alveolar haemorrhage without any underlying systemic disease. 900000000000017005 3030500019 20150131 1 900000000000207008 224571005 en 900000000000550004 Nurse Practitioners (NPs), are registered nurses with additional education and experience who are able to order and interpret diagnostic tests, communicate diagnoses, prescribe pharmaceuticals and perform specific procedures. 900000000000017005 3030933015 20150131 1 900000000000012004 704320005 en 900000000000550004 This attribute is used to specify the third element of a relational quality, the first two elements being the type of property and the entity in which the quality inheres. The type of property is typically a concentration, and the entity in which it inheres is typically a fluid such as plasma, serum or blood. The third element typically is the substance or molecule that is the thing being measured as a concentration. The concentration of sodium in blood would be "property type" concentration, "towards" sodium, "inheres in" blood. 900000000000017005 3030934014 20150131 1 900000000000207008 707606004 en 900000000000550004 Gingival disease with an aetiology other than dental plaque, such as bacterial, viral, fungal or genetic origin, due to systemic conditions, trauma, foreign body reactions, or other causes. 900000000000017005 3030935010 20150131 1 900000000000207008 707624002 en 900000000000550004 Excessive swallowing of saliva. 900000000000017005 3030936011 20150131 1 900000000000207008 707607008 en 900000000000550004 Associates gingival fibromatosis with dental abnormalities including generalized thin hypoplastic amelogenesis imperfecta, intrapulpal calcifications and delay of tooth eruption. 900000000000017005 3030937019 20150131 1 900000000000012004 704647008 en 900000000000550004 This attribute links an information entity to the non-information entity to which it refers, i.e. the thing it is about. 900000000000017005 3030938012 20150131 1 900000000000012004 704319004 en 900000000000550004 This attribute specifies the independent continuant which bears the quality, and on which the dependent quality (of this observable) depends. 900000000000017005 3030939016 20150131 1 900000000000207008 707607008 en 900000000000550004 Associates gingival fibromatosis with dental abnormalities including generalised thin hypoplastic amelogenesis imperfecta, intrapulpal calcifications and delay of tooth eruption. 900000000000017005 3030940019 20150131 1 900000000000207008 707606004 en 900000000000550004 Gingival disease with an etiology other than dental plaque, such as bacterial, viral, fungal or genetic origin, due to systemic conditions, trauma, foreign body reactions, or other causes. 900000000000017005 3031412012 20150131 1 900000000000207008 315184001 en 900000000000550004 A procedure to ascertain the level of antigen in a specimen. 900000000000017005 3032079017 20150131 1 900000000000207008 707851002 en 900000000000550004 Based on symptomatology, the patient does not require hospitalization 900000000000017005 3032080019 20150131 1 900000000000207008 707851002 en 900000000000550004 Based on symptomatology, the patient does not require hospitalisation 900000000000017005 3032081015 20150131 1 900000000000207008 707852009 en 900000000000550004 Based on symptomatology, the patient requires hospitalization 900000000000017005 3032082010 20150131 1 900000000000207008 707852009 en 900000000000550004 Based on symptomatology, the patient requires hospitalisation 900000000000017005 3032084011 20150131 1 900000000000207008 707854005 en 900000000000550004 Based on the CDC guidelines: Testing is indicated for patients with symptomatology and history of exposure to the Ebola virus 900000000000017005 3032089018 20150131 1 900000000000207008 707860005 en 900000000000550004 A patient speculated to have Ebola virus disease (EVD) based on symptomatology and history of exposure to the Ebola virus 900000000000017005 3032834017 20150131 1 900000000000207008 708037001 en 900000000000550004 Mild Asperger's syndrome present in an adult. 900000000000017005 3032835016 20150131 1 900000000000207008 703195007 en 900000000000550004 A condition following an arterial switch operation to correct transposition of the great arteries, in which the old pulmonary root becomes the new aortic root and where the new aortic valve does not prevent backflow to the left ventricle. 900000000000017005 3032836015 20150131 1 900000000000207008 707985000 en 900000000000550004 Suppression of the secretion of saliva. 900000000000017005 3032837012 20150131 1 900000000000207008 703318003 en 900000000000550004 A condition following an arterial switch operation to correct transposition of the great arteries, in which the old pulmonary root becomes the new aortic root and where the new aortic valve is narrowed. 900000000000017005 3032838019 20150131 1 900000000000207008 708016009 en 900000000000550004 High muscle attachment in the mouth resulting in abnormal pull on the gingiva leading to gingival recession and/or inflammation. 900000000000017005 3032839010 20150131 1 900000000000207008 704659007 en 900000000000550004 Child at risk of being abused. 900000000000017005 3032840012 20150131 1 900000000000207008 416280009 en 900000000000550004 A venous and lymphatic drainage technique applied through the lower extremities. 900000000000017005 3032841011 20150131 1 900000000000207008 703185000 en 900000000000550004 A condition following an arterial switch operation to correct transposition of the great arteries, in which the old aortic root becomes the new pulmonary root and where the new pulmonary valve does not prevent backflow to the right ventricle. 900000000000017005 3032842016 20150131 1 900000000000207008 707989006 en 900000000000550004 Inflammation of the gingivae and oral mucosa due to contact with irritants or allergens but without specification of which mechanism is involved. 900000000000017005 3032843014 20150131 1 900000000000207008 708027006 en 900000000000550004 Structural abnormality of a valve in which the valve opening is narrowed and the valve fails to close properly. 900000000000017005 3032844015 20150131 1 900000000000207008 703186004 en 900000000000550004 A condition following an arterial switch operation to correct transposition of the great arteries, in which the old aortic root becomes the new pulmonary root and where outflow of blood from the right ventricle of the heart is obstructed at the level of the pulmonic valve. 900000000000017005 3032845019 20150131 1 900000000000207008 708024004 en 900000000000550004 Structural abnormality in which a valve fails to close properly. This includes abnormalities of the valve leaflets as well as so-called functional insufficiency due to other abnormalities such as annular dilatation in the presence of morphologically normal leaflets. 900000000000017005 3032846018 20150131 1 900000000000207008 704658004 en 900000000000550004 Child at risk of being neglected by others. 900000000000017005 3033050019 20150131 1 900000000000207008 708080005 en 900000000000550004 Endocardium of region of the left atrium and/or left ventricle which is continuous with the leaflets of the mitral valve. 900000000000017005 3034362019 20150131 1 900000000000207008 708127008 en 900000000000550004 An idiopathic glomerular disease characterized by massive accumulation of atypical type III collagen fibrils within the mesangial matrix and subendothelial space of glomeruli. 900000000000017005 3034363012 20150131 1 900000000000207008 708252004 en 900000000000550004 Discharge from a virtual ward that uses the systems, staffing, and daily routine of a hospital ward to deliver preventive care to patients in their own home. 900000000000017005 3034364018 20150131 1 900000000000207008 708474007 en 900000000000550004 Formation of an epidermal layer which lacks nuclei during normal keratinization. 900000000000017005 3034365017 20150131 1 900000000000207008 708127008 en 900000000000550004 An idiopathic glomerular disease characterised by massive accumulation of atypical type III collagen fibrils within the mesangial matrix and subendothelial space of glomeruli. 900000000000017005 3034732010 20150131 1 900000000000207008 123744001 en 900000000000550004 A cut or tear to an internal structure without a communication with the outside of the body. Note that this is does not refer to a laceration that has been repaired by a closure technique. 900000000000017005 3034761011 20150131 1 900000000000207008 700487000 en 900000000000550004 A person's ability to walk in corridor on unit. 900000000000017005 3034762016 20150131 1 900000000000207008 700486009 en 900000000000550004 A person's ability to walk between locations in a room. 900000000000017005 3034821017 20150131 1 900000000000207008 705136008 en 900000000000550004 The association of the transverse plus posterior wall fracture combines a transverse acetabular fracture with one or more separate posterior wall fragments. The transverse component of this fracture could be transtectal, juxtatectal, or infratectal. 900000000000017005 3034822012 20150131 1 900000000000207008 708484008 en 900000000000550004 Alteration to skin and/or mucous membrane epithelial integrity manifest by vesicular inflammation and superficial ulceration. These may be a result of disease that presents with cell and/or humoral immunity-mediated attack on epithelial-connective tissue targets. 900000000000017005 3034866014 20150131 1 900000000000207008 704999008 en 900000000000550004 T wave inversion in leads v2-5. 900000000000017005 3034867017 20150131 1 900000000000207008 704998000 en 900000000000550004 ST segment depression seen in multiple regions, including anterior, lateral and inferior. 900000000000017005 3034868010 20150131 1 900000000000207008 704997005 en 900000000000550004 ST segment depression in leads II and/or III and/or aVF. 900000000000017005 3034869019 20150131 1 900000000000207008 705011000 en 900000000000550004 ST segment depression in leads V3-5. 900000000000017005 3034870018 20150131 1 900000000000207008 705009009 en 900000000000550004 ST segment depression in posteriorly placed precordial leads (V7-10). 900000000000017005 3035160011 20150131 1 900000000000207008 705095008 en 900000000000550004 ST segment elevation in leads II and/or III and/or aVF with ST segment elevation in V3R and/or V4R. 900000000000017005 3035161010 20150131 1 900000000000207008 706907002 en 900000000000550004 Partial progress has been made towards the targeted objective. 900000000000017005 3035174016 20150131 1 900000000000207008 129721000119106 en 900000000000550004 On dialysis to treat acute renal failure. 900000000000017005 3035221017 20150131 1 900000000000207008 109478007 en 900000000000550004 Amelogenesis imperfecta, intellectual disability, and epileptic seizures. 900000000000017005 3035222012 20150131 1 900000000000207008 3761000119104 en 900000000000550004 Abnormally low testosterone production; possibly due to testicular dysfunction (primary hypogonadism) or hypothalamic-pituitary dysfunction (secondary hypogonadism) and may be congenital or acquired. 900000000000017005 3035223019 20150131 1 900000000000207008 367821000119106 en 900000000000550004 Hypertension that develops following long-standing compression of renal parenchyma by sub-capsular renal collection, e.g. haematoma, seroma, urinoma. 900000000000017005 3035224013 20150131 1 900000000000207008 140051000119109 en 900000000000550004 A benign proliferation of pigment cells of the oral mucosa producing brown or bluish dome-shaped or sessile mass, usually with a smooth surface. 900000000000017005 3035225014 20150131 1 900000000000207008 707074004 en 900000000000550004 High molecular weight fragment of ACTH. 900000000000017005 3035226010 20150131 1 900000000000207008 707859000 en 900000000000550004 A patient without symptomatology or history to suggest concern for EVD. 900000000000017005 3035240011 20150131 1 900000000000207008 707858008 en 900000000000550004 Someone who has been determined to be at high risk for developing EVD. This may include criteria such as CDC: 1) Percutaneous or mucous membrane exposure to blood or body fluids of an EVD patient; 2) Direct skin contact with, or exposure to blood or body fluids of, an EVD patient without appropriate personal protective equipment (PPE); 3) Processing blood or body fluids of a person with Ebola while the person was symptomatic without appropriate PPE or standard biosafety precautions; 4) Direct contact with a dead body without appropriate PPE in a country where an EVD outbreak is occurring; 5) Having lived in the immediate household and provided direct care to a person with Ebola while the person was symptomatic. 900000000000017005 3035240011 20210131 0 900000000000207008 707858008 en 900000000000550004 Someone who has been determined to be at high risk for developing EVD. This may include criteria such as CDC: 1) Percutaneous or mucous membrane exposure to blood or body fluids of an EVD patient; 2) Direct skin contact with, or exposure to blood or body fluids of, an EVD patient without appropriate personal protective equipment (PPE); 3) Processing blood or body fluids of a person with Ebola while the person was symptomatic without appropriate PPE or standard biosafety precautions; 4) Direct contact with a dead body without appropriate PPE in a country where an EVD outbreak is occurring; 5) Having lived in the immediate household and provided direct care to a person with Ebola while the person was symptomatic. 900000000000017005 3035241010 20150131 1 900000000000207008 707853004 en 900000000000550004 Testing is not indicated for patients without symptomatology or history of exposure to the Ebola virus. 900000000000017005 3035242015 20150131 1 900000000000207008 707856007 en 900000000000550004 Someone who has been determined to be at low risk for developing EVD. This may include criteria such as CDC: 1) Having been in a country with widespread Ebola virus transmission within the past 21 days and having had no known exposures; 2) Direct contact while using appropriate personal protective equipment (PPE) with a person with Ebola while the person was symptomatic; 3) Brief proximity with a person with Ebola while the person was symptomatic; 4) Traveled on an aircraft with a person with Ebola while the person was symptomatic. 900000000000017005 3035242015 20210131 0 900000000000207008 707856007 en 900000000000550004 Someone who has been determined to be at low risk for developing EVD. This may include criteria such as CDC: 1) Having been in a country with widespread Ebola virus transmission within the past 21 days and having had no known exposures; 2) Direct contact while using appropriate personal protective equipment (PPE) with a person with Ebola while the person was symptomatic; 3) Brief proximity with a person with Ebola while the person was symptomatic; 4) Traveled on an aircraft with a person with Ebola while the person was symptomatic. 900000000000017005 3035243013 20150131 1 900000000000207008 707855006 en 900000000000550004 A person with no known exposure to Ebola virus. This includes anyone who has been in a country in which an EVD outbreak occurred within the past 21 days and has had no high or low risk exposures to the Ebola virus. 900000000000017005 3035651019 20150731 1 900000000000207008 708573003 en 900000000000550004 The surface is not intact with visible breakdown (hole) and extensive loss of mineral, extensive localized demineralization where there is observable localized breakdown or distinct cavity (hole). 900000000000017005 3035652014 20150731 1 900000000000207008 708576006 en 900000000000550004 Dental caries involving a discrete area of tooth not including an existing restoration. 900000000000017005 3035653016 20150731 1 900000000000207008 708574009 en 900000000000550004 The surface remains intact with visible change, loss of mineral, localized demineralization where there is no observable localized breakdown or distinct cavity (hole). 900000000000017005 3035654010 20150731 1 900000000000207008 708579004 en 900000000000550004 The area in dentin between the inner one third the distance to the pulp and the pulp. 900000000000017005 3035655011 20150731 1 900000000000207008 708575005 en 900000000000550004 Recurrent dental caries involving a discrete area of a tooth including an area adjacent to an existing restoration or sealant. 900000000000017005 3035656012 20150731 1 900000000000207008 708583004 en 900000000000550004 The area from the outer dentin surface to half the distance to the pulp. 900000000000017005 3035658013 20150731 1 900000000000207008 708578007 en 900000000000550004 Progressing carious lesion. 900000000000017005 3035659017 20150731 1 900000000000207008 708586007 en 900000000000550004 Interface between the pulp and the dentin. 900000000000017005 3035660010 20150731 1 900000000000207008 708577002 en 900000000000550004 Arrested carious lesion that is not advancing. 900000000000017005 3035662019 20150731 1 900000000000207008 708581002 en 900000000000550004 The area from the outer dentin surface to one third the distance to the pulp of tooth. 900000000000017005 3035663012 20150731 1 900000000000207008 708582009 en 900000000000550004 The area in dentin between half the distance to the pulp and the pulp. 900000000000017005 3035664018 20150731 1 900000000000207008 708596003 en 900000000000550004 Loss of access hole filling material in screw-retained implants. 900000000000017005 3035665017 20150731 1 900000000000207008 708580001 en 900000000000550004 The area in dentin between the outer one third the distance to the pulp and the inner one third the distance to the pulp. 900000000000017005 3035667013 20150731 1 900000000000207008 708585006 en 900000000000550004 The area between the surface of the enamel to half the distance to the dentinoenamel junction. 900000000000017005 3036606012 20150731 1 900000000000207008 708654005 en 900000000000550004 Condition where roots of adjacent teeth approximate each other resulting in minimal bone between teeth. 900000000000017005 3036607015 20150731 1 900000000000207008 708638007 en 900000000000550004 Decreased or absent display of maxillary and/or the mandibular incisal edge at rest. 900000000000017005 3036608013 20150731 1 900000000000207008 708668003 en 900000000000550004 Angle formed by the junction of the posterior and lower borders of the lower jaw is below average. 900000000000017005 3036609017 20150731 1 900000000000207008 708672004 en 900000000000550004 Tooth specific inherited disorder of mineral metabolism caused by gene mutation, encoding tissue non-specific alkaline phosphatase (TNAP). 900000000000017005 3036612019 20150731 1 900000000000207008 708675002 en 900000000000550004 Angle formed by the junction of the posterior and lower borders of the lower jaw. 900000000000017005 3036613012 20150731 1 900000000000207008 708667008 en 900000000000550004 Angle formed by the junction of the posterior and lower borders of the lower jaw is above average. 900000000000017005 3036614018 20150731 1 900000000000207008 708722008 en 900000000000550004 A water well and related storage equipment that form the basis of municipal water supply system, from where many households are drawing their water. 900000000000017005 3036615017 20150731 1 900000000000207008 708637002 en 900000000000550004 Increased display of maxillary and/or mandibular incisal edge when the jaws are at rest. This translates to >1.91 mm for men and 3.40 mm in women for the maxilla; and >1.23 mm for men and 0.49 mm in women for the mandible. 900000000000017005 3037894011 20150731 1 900000000000207008 708700001 en 900000000000550004 A water well and related storage equipment that form the basis for a private residence water supply. It may supply more than one building but is not operated under direction of a municipality. 900000000000017005 3037895012 20150731 1 900000000000207008 709002005 en 900000000000550004 Small white or flesh-colored waxy papules ranging in size from 0.5 to 1.2 cm. 900000000000017005 3037896013 20150731 1 900000000000207008 708673009 en 900000000000550004 Inability of the brain to properly identify an odors natural smell and instead transcribing it into an unpleasant aroma. 900000000000017005 3037896013 20170131 0 900000000000207008 708673009 en 900000000000550004 Inability of the brain to properly identify an odors natural smell and instead transcribing it into an unpleasant aroma. 900000000000017005 3037897016 20150731 1 900000000000207008 708673009 en 900000000000550004 Inability of the brain to properly identify an odours natural smell and instead transcribing it into an unpleasant aroma. 900000000000017005 3037897016 20170131 0 900000000000207008 708673009 en 900000000000550004 Inability of the brain to properly identify an odours natural smell and instead transcribing it into an unpleasant aroma. 900000000000017005 3037898014 20150731 1 900000000000207008 708980008 en 900000000000550004 The shape of ridge following loss of teeth; the residual ridge morphology is the most objective criteria for the maxilla on examination of the oral cavity since measurement of the residual bone height by radiography is not reliable. 900000000000017005 3037900011 20150731 1 900000000000207008 708584005 en 900000000000550004 The area between half the distance to the dentinoenamel junction and the dentinoenamel junction. 900000000000017005 3037901010 20150731 1 900000000000207008 103286000 en 900000000000550004 Dizziness experienced on lying down. 900000000000017005 3037902015 20150731 1 900000000000207008 708671006 en 900000000000550004 Decreased display of the maxillary incisal during a posed smile. Normal display should involve the whole maxillary incisors and interdental gingiva. 900000000000017005 3037904019 20150731 1 900000000000207008 22053006 en 900000000000550004 A male with two or more X chromosomes. 900000000000017005 3038214016 20150731 1 900000000000207008 709079002 en 900000000000550004 A complex mixture consisting of allergenic proteins derived from natural sources. May be used for diagnosis or therapy. Extracts used for diagnosis have the same active ingredients as those used for therapy but may differ by concentration, diluent or other additives. 900000000000017005 3038215015 20150731 1 900000000000207008 609327009 en 900000000000550004 A process characterised by an initial humoral or cell-mediated immune response to a foreign antigen resulting in the production of specific antibodies and/or immune cells which may then lead to an allergic disposition. 900000000000017005 3038216019 20150731 1 900000000000207008 609327009 en 900000000000550004 A process characterized by an initial humoral or cell-mediated immune response to a foreign antigen resulting in the production of specific antibodies and/or immune cells which may then lead to an allergic disposition. 900000000000017005 3038218018 20150731 1 900000000000207008 346313005 en 900000000000550004 A complex mixture consisting of allergenic proteins derived from natural sources used for allergy treatment by subcutaneous or oral/sublingual route. 900000000000017005 3038219014 20150731 1 900000000000207008 411123000 en 900000000000550004 A complex mixture consisting of allergenic proteins derived from natural sources used for allergy diagnosis by skin or provocation testing 900000000000017005 3038219014 20160131 0 900000000000207008 411123000 en 900000000000550004 A complex mixture consisting of allergenic proteins derived from natural sources used for allergy diagnosis by skin or provocation testing 900000000000017005 3038220015 20150731 1 900000000000207008 708573003 en 900000000000550004 The surface is not intact with visible breakdown (hole) and extensive loss of mineral, extensive localised demineralisation where there is observable localised breakdown or distinct cavity (hole). 900000000000017005 3038221016 20150731 1 900000000000207008 709073001 en 900000000000550004 A disorder characterized by a decline primarily in intellectual function due to disease of the brain caused by a variety of acquired conditions such as cerebrovascular disease, Alzheimer's disease, infections, adverse drug reactions and trauma. 900000000000017005 3038222011 20150731 1 900000000000207008 709064009 en 900000000000550004 Finding of shortened, hypertonic pelvic floor musculature 900000000000017005 3038223018 20150731 1 900000000000207008 709073001 en 900000000000550004 A disorder characterised by a decline primarily in intellectual function due to disease of the brain caused by a variety of acquired conditions such as cerebrovascular disease, Alzheimer's disease, infections, adverse drug reactions and trauma. 900000000000017005 3038224012 20150731 1 900000000000207008 708574009 en 900000000000550004 The surface remains intact with visible change, loss of mineral, localised demineralisation where there is no observable localised breakdown or distinct cavity (hole). 900000000000017005 3038703015 20150731 1 900000000000207008 709109004 en 900000000000550004 Respiratory failure due to a high level of carbon dioxide in the blood. 900000000000017005 3038768010 20150731 1 900000000000207008 233765002 en 900000000000550004 Respiratory failure due to a low level of oxygen in the blood without a high level of carbon dioxide. 900000000000017005 3039238012 20150731 1 900000000000207008 709199006 en 900000000000550004 Pelvic rest is part of the treatment plan for conditions or procedures including preterm labor, early pregnancy emergencies, gynecologic disorders, pelvic inflammatory disease, miscarriage, gynecologic surgery, high-risk pregnancy, dilation and curettage. Pelvic rest requires abstinence from douching, intercourse, tampon use and heavy lifting. 900000000000017005 3039239016 20150731 1 900000000000207008 709199006 en 900000000000550004 Pelvic rest is part of the treatment plan for conditions or procedures including preterm labour, early pregnancy emergencies, gynecologic disorders, pelvic inflammatory disease, miscarriage, gynecologic surgery, high-risk pregnancy, dilation and curettage. Pelvic rest requires abstinence from douching, intercourse, tampon use and heavy lifting. 900000000000017005 3040355017 20150731 1 900000000000207008 709495007 en 900000000000550004 A horizontal streak found on the inner surface of the cheek at the level of the biting plane. It usually extends from the commissure to the posterior teeth and can extend to the inner lip mucosa and corners of the mouth. It is a common finding and most likely associated with pressure, frictional irritation, or sucking trauma from the facial surfaces of the teeth. 900000000000017005 3040356016 20150731 1 900000000000207008 709461008 en 900000000000550004 A Z-shaped cut in the first metatarsal in order to separate the head of the plantar half of the shaft from the rest of the bone. This allows the head-shaft complex to be translated and rotated in order to achieve correction of the deformity while maintaining articular congruity. 900000000000017005 3040649018 20150731 1 900000000000207008 709612002 en 900000000000550004 A tongue position where the tongue is pulled back in the mouth altering the shape of the sublingual space. 900000000000017005 3040983010 20150731 1 900000000000207008 709667001 en 900000000000550004 Chemical, biochemical and/or electrochemical actions causing the degradation of the hard tissue of the tooth. 900000000000017005 3042465016 20150731 1 900000000000207008 709850005 en 900000000000550004 Any posterior maxillary or mandibular span that is greater than 3 missing teeth or 2 molars; any edentulous span including anterior and posterior areas of 3 or more missing teeth. 900000000000017005 3042466015 20150731 1 900000000000207008 709852002 en 900000000000550004 A lesion as a result of galvanic current in the oral cavity due to the presence of two or more dissimilar metals in dental restorations that are bathed in saliva, or a single metal restoration and two electrolytes, saliva and pulp tissue fluid, thus producing an electrolytic cell and an electric current. When such restorations touch each other, the current may be high enough to irritate the dental pulp and cause sharp pain. The anodic restoration or areas of a restoration are subject to electrolytic corrosion. 900000000000017005 3042467012 20150731 1 900000000000207008 312004007 en 900000000000550004 The state of reverse fluid flow through a valve or orifice. 900000000000017005 3042468019 20150731 1 900000000000207008 709847007 en 900000000000550004 The edentulous span is confined to a single arch and one of the following: Any anterior maxillary span that does not exceed 2 missing incisors; any anterior mandibular span that does not exceed 4 missing incisors; or any posterior maxillary or mandibular span that does not exceed 2 premolars or 1 premolar and 1 molar. 900000000000017005 3042469010 20150731 1 900000000000207008 709846003 en 900000000000550004 The edentulous span is confined to a single arch. 900000000000017005 3042470011 20150731 1 900000000000207008 709848002 en 900000000000550004 The edentulous span is in both arches and one of the following: Any anterior maxillary span that does not exceed 2 missing incisors; any anterior mandibular span that does not exceed 4 missing incisors; any posterior maxillary or mandibular span that does not exceed 2 premolars or 1 premolar and 1 molar; or the maxillary or mandibular canine is missing. 900000000000017005 3042731018 20150731 1 900000000000207008 710005006 en 900000000000550004 Referral to physical training instructor, these instructors can run sporting programs, fitness programs as well as rehabilitation programs. 900000000000017005 3042733015 20150731 1 900000000000207008 710005006 en 900000000000550004 Referral to physical training instructor, these instructors can run sporting programmes, fitness programmes as well as rehabilitation programmes. 900000000000017005 3042734014 20150731 1 900000000000207008 709984005 en 900000000000550004 The form and arrangement of the occlusal contacts in natural and artificial dentition. 900000000000017005 3042735010 20150731 1 900000000000207008 239332003 en 900000000000550004 An immune system percutaneous procedure that observes for evidence of hypersensitivity. 900000000000017005 3042736011 20150731 1 900000000000207008 710004005 en 900000000000550004 Distance between most retruded contact position and maximum intercuspation of the mandible. 900000000000017005 3042878011 20150731 1 900000000000207008 710021001 en 900000000000550004 Palatal vault morphology that offers minimal resistance to vertical and horizontal movement of the denture base. 900000000000017005 3042879015 20150731 1 900000000000207008 710024009 en 900000000000550004 Hyperplastic, mobile anterior ridge that offers minimum support and stability of the denture base. 900000000000017005 3042880017 20150731 1 900000000000207008 710023003 en 900000000000550004 Loss of posterior buccal vestibule. 900000000000017005 3042881018 20150731 1 900000000000207008 710022008 en 900000000000550004 Palatal vault morphology that does not resist vertical or horizontal movement of the denture base. 900000000000017005 3042882013 20150731 1 900000000000207008 710026006 en 900000000000550004 Hyperplastic, redundant anterior ridge. 900000000000017005 3042964011 20150731 1 900000000000207008 710007003 en 900000000000550004 Unusually large or small tooth with abnormalities of the crown form or root configuration. 900000000000017005 3043319012 20150731 1 900000000000207008 710101000 en 900000000000550004 Extreme cant to the condylar head beyond the usual normal range. 900000000000017005 3043320018 20150731 1 900000000000207008 234975001 en 900000000000550004 Dental decay that occurs on the root portion of a tooth. 900000000000017005 3043321019 20150731 1 900000000000207008 710085008 en 900000000000550004 Residual bone height of 16–20mm measured at the least vertical height of the mandible. 900000000000017005 3043322014 20150731 1 900000000000207008 710110008 en 900000000000550004 Pain felt as if it were arising in an absent or amputated limb, organ or body part. 900000000000017005 3043323016 20150731 1 900000000000207008 710090006 en 900000000000550004 The upper canine is positioned distally to the embrasure between the lower canine and first premolar, the canine occlusion is called Class III. 900000000000017005 3043324010 20150731 1 900000000000207008 709987003 en 900000000000550004 Occlusal scheme that requires localized adjunctive therapy. 900000000000017005 3043325011 20150731 1 900000000000207008 710087000 en 900000000000550004 Residual vertical bone height of 10mm or less measured at the least vertical height of the mandible. 900000000000017005 3043326012 20150731 1 900000000000207008 710084007 en 900000000000550004 Residual bone height of 21mm or greater measured at the least vertical height of the mandible. 900000000000017005 3043327015 20150731 1 900000000000207008 710098004 en 900000000000550004 Either the direction towards the biting surface of the posterior teeth, or to something relating to this surface. 900000000000017005 3043328013 20150731 1 900000000000207008 709999005 en 900000000000550004 A supernumerary tooth resembling a molar tooth especially in shape. 900000000000017005 3043329017 20150731 1 900000000000207008 709987003 en 900000000000550004 Occlusal scheme that requires localised adjunctive therapy. 900000000000017005 3043330010 20150731 1 900000000000207008 710083001 en 900000000000550004 A finding of mandible bone height in edentulous patients by examination of the oral cavity in prosthodontics; part of prosthodontic classification in assessment for dentures/devices. 900000000000017005 3043331014 20150731 1 900000000000207008 710106005 en 900000000000550004 Extensively drug resistant TB are strains of TB that are resistant to at least rifampicin and isoniazid, and also resistant to a fluoroquinolone and to at least one of the three injectable TB drugs, capreomycin, kanamycin and amikacin. 900000000000017005 3043332019 20150731 1 900000000000207008 710094002 en 900000000000550004 Pathology that affects the coronal morphology of 4 or more teeth in three or more sextants. 900000000000017005 3043333012 20150731 1 900000000000207008 709986007 en 900000000000550004 Occlusal scheme in dentate patient that requires localised adjunctive therapy. 900000000000017005 3043334018 20150731 1 900000000000207008 709995004 en 900000000000550004 Occlusal scheme in partially dentate patient that requires reestablishment, but without any change in vertical dimension of occlusion. 900000000000017005 3043335017 20150731 1 900000000000207008 710000001 en 900000000000550004 A less aggressive and self-limited pathologic process that can develop without any obvious eliciting factor and is characterized by exposed necrotic bone involving the lingual mandible approximately at the level of the mylohyoid ridge. 900000000000017005 3043336016 20150731 1 900000000000207008 710100004 en 900000000000550004 A measure of the slope of the occlusal plane on the left to the Frankfort horizontal in degrees, related to tooth eruption. 900000000000017005 3043337013 20150731 1 900000000000207008 709994000 en 900000000000550004 Occlusal scheme that requires reestablishment, but without any change in vertical dimension of occlusion. 900000000000017005 3043338015 20150731 1 900000000000207008 710072005 en 900000000000550004 The presence of the following interrelated signs observed in active women and girls: low energy availability with or without disordered eating; menstrual dysfunction; low bone mineral density. 900000000000017005 3043339011 20150731 1 900000000000207008 710089002 en 900000000000550004 The upper canine is positioned mesial to the embrasure between the lower canine and first premolar, the canine occlusion is called Class II. 900000000000017005 3043340013 20150731 1 900000000000207008 422481005 en 900000000000550004 Totally (extremely) drug resistant TB is TB which is resistant to all the first and second line TB drugs. 900000000000017005 3043341012 20150731 1 900000000000207008 709991008 en 900000000000550004 Occlusal scheme that requires reestablishment with changes in the vertical dimension of occlusion. 900000000000017005 3043342017 20150731 1 900000000000207008 710102007 en 900000000000550004 A measure of the slope of the occlusal plane on the right to the Frankfort horizontal in degrees, related to tooth eruption. 900000000000017005 3043343010 20150731 1 900000000000207008 709997007 en 900000000000550004 Excessive divergence of the skeletal plane; A steep mandibular plane angle would be present in a Hyperdivergent Skeletal Pattern with a long anterior lower face height with open bite tendency, lip incompetence and often associated with Class II malocclusion. 900000000000017005 3043344016 20150731 1 900000000000207008 710088005 en 900000000000550004 The upper canine is positioned in the embrasure between the lower canine and first premolar, the canine occlusion is called Class I. 900000000000017005 3043345015 20150731 1 900000000000207008 710092003 en 900000000000550004 No significant morphology affecting the coronal morphology of the teeth. 900000000000017005 3043346019 20150731 1 900000000000207008 709993006 en 900000000000550004 Occlusal scheme in dentate patient that requires reestablishment, but without any change in vertical dimension of occlusion. 900000000000017005 3043347011 20150731 1 900000000000207008 709988008 en 900000000000550004 Occlusal scheme in partially dentate patient that requires localised adjunctive therapy. 900000000000017005 3043348018 20150731 1 900000000000207008 709992001 en 900000000000550004 Occlusal scheme in partially dentate patient that requires reestablishment with changes in the vertical dimension of occlusion. 900000000000017005 3043349014 20150731 1 900000000000207008 710093008 en 900000000000550004 Pathology that affects the coronal morphology of three or less teeth in a sextant. 900000000000017005 3043350014 20150731 1 900000000000207008 710000001 en 900000000000550004 A less aggressive and self-limited pathologic process that can develop without any obvious eliciting factor and is characterised by exposed necrotic bone involving the lingual mandible approximately at the level of the mylohyoid ridge. 900000000000017005 3043351013 20150731 1 900000000000207008 710099007 en 900000000000550004 The direction towards the anterior midline in a dental arch. 900000000000017005 3043352018 20150731 1 900000000000207008 710097009 en 900000000000550004 Either the direction towards the biting edge of the anterior teeth, or to something relating to this edge. 900000000000017005 3043353011 20150731 1 900000000000207008 710108006 en 900000000000550004 Span of mandible from Xi point to Pb. 900000000000017005 3043354017 20150731 1 900000000000207008 710086009 en 900000000000550004 Residual alveolar bone height of 11–15mm measured at the least vertical height of the mandible. 900000000000017005 3043355016 20150731 1 900000000000207008 709988008 en 900000000000550004 Occlusal scheme in partially dentate patient that requires localized adjunctive therapy. 900000000000017005 3043356015 20150731 1 900000000000207008 709989000 en 900000000000550004 Occlusal scheme in dentate patient that requires reestablishment with changes in the vertical dimension of occlusion. 900000000000017005 3043357012 20150731 1 900000000000207008 5661000124106 en 900000000000550004 Characterized by irregular macular hyperpigmentation of the oral mucosa. 900000000000017005 3043358019 20150731 1 900000000000207008 710095001 en 900000000000550004 Pathology that affects the coronal morphology of 4 or more teeth in all sextants. 900000000000017005 3043359010 20150731 1 900000000000207008 709986007 en 900000000000550004 Occlusal scheme in dentate patient that requires localized adjunctive therapy. 900000000000017005 3043360017 20150731 1 900000000000207008 710091005 en 900000000000550004 For the permanent dentition having 32 teeth. For the primary dentition having 20 teeth. 900000000000017005 3043577018 20150731 1 900000000000207008 710135002 en 900000000000550004 An activity that supports or encourages a cause or goal. 900000000000017005 3043578011 20150731 1 900000000000207008 710160002 en 900000000000550004 Position and activity of the tongue that can effect the stability and retention of a mandibular complete denture. 900000000000017005 3043579015 20150731 1 900000000000207008 710117006 en 900000000000550004 A complex composed of aspartate aminotransferase and immunoglobulin. 900000000000017005 3043755019 20150731 1 900000000000207008 123571000119104 en 900000000000550004 Less serious form of hypersensitivity reaction which occurs in response to medicines, infections, or illness. 900000000000017005 3044039010 20150731 1 900000000000207008 710191008 en 900000000000550004 Advanced oxidation protein products (AOPP) are derivatives of oxidation-modified albumin which are formed in conditions of intensified oxidative stress. 900000000000017005 3044218011 20150731 1 900000000000207008 710243000 en 900000000000550004 A flat mandibular plane angle correlates with short anterior facial vertical dimensions (height) and anterior deep bite malocclusion. 900000000000017005 3044219015 20150731 1 900000000000207008 3921000175107 en 900000000000550004 Details where a patient's birth plan is stored and/or located. 900000000000017005 3046127015 20150731 1 900000000000207008 710713001 en 900000000000550004 Hyperplastic epithelial cells with nodular distribution. 900000000000017005 3046128013 20150731 1 900000000000207008 710729009 en 900000000000550004 Woody tongue includes the involvement of the sublingual space causing elevation, posterior enlargement and protrusion of the tongue. 900000000000017005 3046311017 20150731 1 900000000000207008 709849005 en 900000000000550004 Edentulous areas are found in both arches and the physiologic abutment support is compromised. 900000000000017005 3046441016 20150731 1 900000000000207008 124911000119100 en 900000000000550004 Severe mucocutaneous reactions; skin detachment of 10 to 30 percent of body surface area most commonly triggered by medications, characterised by extensive necrosis and detachment of the epidermis. 900000000000017005 3046442011 20150731 1 900000000000207008 710782002 en 900000000000550004 A distal placement of the mandibular molar, a mesial relationship of the maxillary, or a combination of the two. The mesiobuccal cusp of the maxillary first molar occludes mesial to the buccal groove of the mandibular first molar, usually near the embrasure between the mandibular molar and second premolar. Subdivision of any malocclusion category denotes a unilateral malocclusion classification. 900000000000017005 3046443018 20150731 1 900000000000207008 22951000119104 en 900000000000550004 Noninfectious variant with a clinical presentation similar to that of the acute disease but with less coryza. 900000000000017005 3046445013 20150731 1 900000000000207008 710787008 en 900000000000550004 Below the xiphoid. 900000000000017005 3046446014 20150731 1 900000000000207008 710793000 en 900000000000550004 A measurement of the occlusal plane to the Frankfort horizontal plane. 900000000000017005 3046447017 20150731 1 900000000000207008 710784001 en 900000000000550004 Mobile removable partial denture in the vertical direction. 900000000000017005 3046573013 20150731 1 900000000000207008 10692761000119107 en 900000000000550004 Disorder characterized by persistent airflow limitation with several features usually associated with asthma and several features usually associated with COPD; identified by the features that it shares with both asthma and COPD. 900000000000017005 3046575018 20150731 1 900000000000207008 10692761000119107 en 900000000000550004 Disorder characterised by persistent airflow limitation with several features usually associated with asthma and several features usually associated with COPD; identified by the features that it shares with both asthma and COPD. 900000000000017005 3046751016 20150731 1 900000000000207008 710923000 en 900000000000550004 Activities done in preparation for sleep that promote sleep. 900000000000017005 3046752011 20150731 1 900000000000207008 710896001 en 900000000000550004 Teaching about use of eg. pillows, air ring, mattresses - devices used to support patient positioning and or relieve pressure. 900000000000017005 3046753018 20150731 1 900000000000207008 710881000 en 900000000000550004 Education about eating patterns; includes the temporal distribution of eating across the 24-hour day, meal size, and meal location. 900000000000017005 3046754012 20150731 1 900000000000207008 124911000119100 en 900000000000550004 Severe mucocutaneous reactions; skin detachment of 10 to 30 percent of body surface area most commonly triggered by medications, characterized by extensive necrosis and detachment of the epidermis. 900000000000017005 3046755013 20150731 1 900000000000207008 710883002 en 900000000000550004 Education about strategies to increase activity tolerance. 900000000000017005 3046756014 20150731 1 900000000000207008 710895002 en 900000000000550004 Teaching about use of protective shields eg, hip protector, heel protector, eye patch, wound dressing. 900000000000017005 3046833010 20150731 1 900000000000207008 709078005 en 900000000000550004 Products containing allergenic substances used for allergy diagnosis or treatment. 900000000000017005 3046884011 20150731 1 900000000000207008 710952002 en 900000000000550004 Advocating for breastfeeding to move it into the public health arena and restore breastfeeding as the cultural norm. 900000000000017005 3046885012 20150731 1 900000000000207008 710951009 en 900000000000550004 A care management intervention that is implemented when a patient is discharged to home with a device. 900000000000017005 3047037016 20150731 1 900000000000207008 710978006 en 900000000000550004 Measures to limit noise and conversation in the patient’s room; keep light levels low and minimise tactile stimulation. 900000000000017005 3047037016 20210131 0 900000000000207008 710978006 en 900000000000550004 Measures to limit noise and conversation in the patient’s room; keep light levels low and minimise tactile stimulation. 900000000000017005 3047038014 20150731 1 900000000000207008 710980000 en 900000000000550004 Cross-infection is the transmittal of an infection from one patient in a hospital or health care setting to another patient with different pathogenic microorganisms in the same environment. 900000000000017005 3047039018 20150731 1 900000000000207008 710971000 en 900000000000550004 Keeping air passage open from mouth to lung alveoli through ability to clear secretions or obstructions from the respiratory tract 900000000000017005 3047040016 20150731 1 900000000000207008 710979003 en 900000000000550004 Noticing and carefully watching the impaired mental registration of a sensory stimulus, for example hallucination, illusion, pain, itching. 900000000000017005 3047041017 20150731 1 900000000000207008 710960001 en 900000000000550004 Refers to the use of a transfer technique (without a device) to transfer a patient in order to avoid injury. 900000000000017005 3047042012 20150731 1 900000000000207008 710978006 en 900000000000550004 Measures to limit noise and conversation in the patient’s room; keep light levels low and minimize tactile stimulation. 900000000000017005 3047042012 20210131 0 900000000000207008 710978006 en 900000000000550004 Measures to limit noise and conversation in the patient’s room; keep light levels low and minimize tactile stimulation. 900000000000017005 3047043019 20150731 1 900000000000207008 2360001000004109 en 900000000000550004 Asthmatic attacks requiring supplemental corticosteroids. 900000000000017005 3047309017 20150731 1 900000000000207008 711038007 en 900000000000550004 Actions and behavioral processes of enhancing impregnation and the physiological process of conception such as monitoring ovulation through basal body temperature and other physiological indicators. 900000000000017005 3047310010 20150731 1 900000000000207008 711025004 en 900000000000550004 Providing all hands on care at one time to allow for periods of rest. 900000000000017005 3047311014 20150731 1 900000000000207008 711039004 en 900000000000550004 An abnormally high skull with shortness of anterior-posterior dimension. A type of craniosynostosis in which there is premature closure of the coronal suture resulting in an abnormally short anteroposterior diameter of the cranium. 900000000000017005 3047314018 20150731 1 900000000000207008 711038007 en 900000000000550004 Actions and behavioural processes of enhancing impregnation and the physiological process of conception such as monitoring ovulation through basal body temperature and other physiological indicators. 900000000000017005 3047315017 20150731 1 900000000000207008 711040002 en 900000000000550004 Undesirable contact of opposing occlusal surfaces on the nonworking side. 900000000000017005 3047352017 20150731 1 900000000000207008 711102002 en 900000000000550004 The most posterior point on the spine of the palatine bone. 900000000000017005 3047353010 20150731 1 900000000000207008 711103007 en 900000000000550004 Characterized by spillage of melanin from the basal keratinocytes into the underlying connective tissue of the lips. 900000000000017005 3047354016 20150731 1 900000000000207008 711045007 en 900000000000550004 Assessment of school health service's ability to deal with a student's health condition in the school setting. 900000000000017005 3047355015 20150731 1 900000000000207008 711103007 en 900000000000550004 Characterised by spillage of melanin from the basal keratinocytes into the underlying connective tissue of the lips. 900000000000017005 3047356019 20150731 1 900000000000207008 711101009 en 900000000000550004 Immaterial anatomical entity which has no spatial dimension. 900000000000017005 3047492019 20150731 1 900000000000207008 711133000 en 900000000000550004 Administration of fluids as a treatment or preventative measure. 900000000000017005 3047659015 20150731 1 900000000000207008 15970001000004108 en 900000000000550004 A fracture that occurs in proximity to an implant. 900000000000017005 3047660013 20150731 1 900000000000207008 14070001000004105 en 900000000000550004 Autonomic disorder involving unilateral hyperhydrosis and flushing of the head and neck. 900000000000017005 3047862015 20150731 1 900000000000207008 711175004 en 900000000000550004 Carious lesion of any cervical (gingival) or other smooth surface area of tooth. 900000000000017005 3047863013 20150731 1 900000000000207008 711174000 en 900000000000550004 Carious lesion of interproximal origin arising on any approximal smooth surface of the tooth contacting an adjacent tooth. 900000000000017005 3047864019 20150731 1 900000000000207008 32570681000036106 en 900000000000550004 Outer genital organs are not visually male or female. 900000000000017005 3047865018 20150731 1 900000000000207008 711173006 en 900000000000550004 Carious lesion of pit and fissure origin in occlusal areas and buccal or lingual pits. 900000000000017005 3076133018 20150731 1 900000000000207008 283545005 en 900000000000550004 Physical trauma sustained from the discharge of arms or munitions. 900000000000017005 3076134012 20150731 1 900000000000207008 711191001 en 900000000000550004 The plate is located between the epiphysis and the metaphysis in long bone and transforms into epiphyseal line in adult life. 900000000000017005 3076246019 20150731 1 900000000000207008 711284007 en 900000000000550004 An assessment approach involving a team of professionals all of the same discipline. 900000000000017005 3076247011 20150731 1 900000000000207008 711283001 en 900000000000550004 A cognitive behaviour therapy approach involving a team of professionals all of the same discipline. 900000000000017005 3076248018 20150731 1 900000000000207008 5399005 en 900000000000550004 Extravasation of blood into the arterial wall following a tear in the intima and leading to separation of the layers of the wall. 900000000000017005 3076249014 20150731 1 900000000000207008 711292003 en 900000000000550004 The distance between the angle of the throat and soft tissue menton less than 51mm+/-6mm. 900000000000017005 3076250014 20150731 1 900000000000207008 711290006 en 900000000000550004 An assessment approach involving a multidisciplinary team that can include professional and non-professional workers. 900000000000017005 3076251013 20150731 1 900000000000207008 711291005 en 900000000000550004 The distance between the angle of the throat and soft tissue menton greater than 51mm+/-6mm. 900000000000017005 3076252018 20150731 1 900000000000207008 711283001 en 900000000000550004 A cognitive behavior therapy approach involving a team of professionals all of the same discipline. 900000000000017005 3076253011 20150731 1 900000000000207008 710950005 en 900000000000550004 Planned movements performed in a sequential manner in order to achieve gradual restoration of normal mobility. 900000000000017005 3078095017 20150731 1 900000000000207008 711329002 en 900000000000550004 A small solid benign tumor with clear-cut border above surrounding tissue. 900000000000017005 3078096016 20150731 1 900000000000207008 440181000 en 900000000000550004 An acute, unexplained episode that is frightening to the caretaker and that includes one of the following features: apnoea, colour change, marked change in muscle tone, choking or gagging. 900000000000017005 3078097013 20150731 1 900000000000207008 440181000 en 900000000000550004 An acute, unexplained episode that is frightening to the caretaker and that includes one of the following features: apnea, color change, marked change in muscle tone, choking or gagging. 900000000000017005 3078309010 20150731 1 900000000000207008 711360002 en 900000000000550004 Application of the drugs within a nerve. 900000000000017005 3078618018 20150731 1 900000000000207008 711431005 en 900000000000550004 Restore or return to the country of origin, allegiance or citizenship by road. 900000000000017005 3078619014 20150731 1 900000000000207008 711459006 en 900000000000550004 The distance between the base of the nose and the inferior aspect of the chin. 900000000000017005 3078620015 20150731 1 900000000000207008 711433008 en 900000000000550004 An acute, unexplained episode that is frightening to the caretaker and that includes one of the following features: apnea, color change, marked change in muscle tone, choking or gagging. 900000000000017005 3078621016 20150731 1 900000000000207008 711462009 en 900000000000550004 Distance between the sella and gonion. 900000000000017005 3078622011 20150731 1 900000000000207008 711458003 en 900000000000550004 An encounter that may be done to qualify someone for a specific position that has physical or psychological requirements or after a medical leave to ensure they can return to full duties that are required for the position. 900000000000017005 3078626014 20150731 1 900000000000207008 711432003 en 900000000000550004 Restore or return to the country of origin, allegiance or citizenship by air travel. 900000000000017005 3078627017 20150731 1 900000000000207008 711433008 en 900000000000550004 An acute, unexplained episode that is frightening to the caretaker and that includes one of the following features: apnoea, colour change, marked change in muscle tone, choking or gagging. 900000000000017005 3078628010 20150731 1 900000000000207008 711446003 en 900000000000550004 Evaluation over an extended period of time involving tests, history taking, and preparation. 900000000000017005 3078928013 20150731 1 900000000000207008 711499009 en 900000000000550004 A rare histopathological disorder of unknown aetiology characterised by the deposition of a subepithelial collagen band with accompanying inflammatory infiltrate. 900000000000017005 3078929017 20150731 1 900000000000207008 711545001 en 900000000000550004 Migraine is due to low oestrogen level during the contraceptive pill-free interval. 900000000000017005 3078930010 20150731 1 900000000000207008 711499009 en 900000000000550004 A rare histopathological disorder of unknown etiology characterized by the deposition of a subepithelial collagen band with accompanying inflammatory infiltrate. 900000000000017005 3078931014 20150731 1 900000000000207008 711495003 en 900000000000550004 A stepdown or lower dependency care unit from cardiac intensive care. 900000000000017005 3078932019 20150731 1 900000000000207008 711544002 en 900000000000550004 In vitro fertilisation with subsequent transfer to an unrelated surrogate. 900000000000017005 3078933012 20150731 1 900000000000207008 711545001 en 900000000000550004 Migraine is due to low estrogen level during the contraceptive pill-free interval. 900000000000017005 3078935017 20150731 1 900000000000207008 711544002 en 900000000000550004 In vitro fertilization with subsequent transfer to an unrelated surrogate. 900000000000017005 3078936016 20150731 1 900000000000207008 711534004 en 900000000000550004 Cervical assessment done anytime during the obstetric period. 900000000000017005 3079092013 20150731 1 900000000000207008 706892001 en 900000000000550004 At risk of intimate partner abuse which is defined as physical, sexual or psychological harm perpetrated by a current or former partner. The abuse can occur among heterosexual or same-sex couples and does not require sexual intimacy. 900000000000017005 3079093015 20150731 1 900000000000207008 8530001000004108 en 900000000000550004 A closed ipsilateral double vertical fracture of the superior pubic ramus and the ischiopubic ramus with fracture or dislocation of the sacroiliac joint. 900000000000017005 3079094014 20150731 1 900000000000207008 8540001000004109 en 900000000000550004 An open ipsilateral double vertical fracture of the superior pubic ramus and the ischiopubic ramus with fracture or dislocation of the sacroiliac joint. 900000000000017005 3079095010 20150731 1 900000000000207008 711464005 en 900000000000550004 Vertical distance between the anterior nasal spine and the menton. 900000000000017005 3079096011 20150731 1 900000000000207008 711527001 en 900000000000550004 Reconstruction using a free flap that receives vascular augmentation from an unrelated source vessel. 900000000000017005 3082998018 20150731 1 900000000000207008 712555000 en 900000000000550004 Liaising with any member of the health care team regarding the patient's dietary regime. 900000000000017005 3082999014 20150731 1 900000000000207008 712556004 en 900000000000550004 The process of creating a plan for pain management. 900000000000017005 3083513013 20150731 1 900000000000207008 712705005 en 900000000000550004 A non-sterile, urine drainage device for men that typically consists of a flexible tube attached to a condom-like sheath. The sheath is fitted over the penis to channel urine, via the tube, into a collection bag. 900000000000017005 3083514019 20150731 1 900000000000207008 712661008 en 900000000000550004 Injury to any structure of the eyelids, eye and optic nerve, including penetrating injury, from exposure to a blast source. 900000000000017005 3083515018 20150731 1 900000000000207008 712651001 en 900000000000550004 Teaching about pain e.g. types of pain, what it is and what causes pain. 900000000000017005 3083601010 20150731 1 900000000000207008 708901009 en 900000000000550004 A benign vasoproliferative lesion in which lymph node sinuses become converted to anastomosing endothelial-lined channels. 900000000000017005 3083602015 20150731 1 900000000000207008 15071000119107 en 900000000000550004 Past history of artificial enlargement of breast due to choice. 900000000000017005 3083639019 20150731 1 900000000000207008 119265000 en 900000000000550004 To give support or aid to; help; to be associated with as an assistant or helper. 900000000000017005 3083989012 20150731 1 900000000000207008 10685111000119102 en 900000000000550004 Upper respiratory tract infection symptoms include: laryngitis, pharyngitis, nasal congestion, rhinorrhea, sneezing and coryza. 900000000000017005 3083990015 20150731 1 900000000000207008 10685111000119102 en 900000000000550004 Upper respiratory tract infection symptoms include: laryngitis, pharyngitis, nasal congestion, rhinorrhoea, sneezing and coryza. 900000000000017005 3084085012 20150731 1 900000000000207008 709002005 en 900000000000550004 Small white or flesh-coloured waxy papules ranging in size from 0.5 to 1.2 cm. 900000000000017005 3084086013 20150731 1 900000000000207008 711364006 en 900000000000550004 Robot surgery is developed on the technique of endoscopic surgery where surgical tools are inserted into the patient through ports that are connected to robotic arms which are controlled by the surgeon. 900000000000017005 3084102011 20150731 1 900000000000207008 711409002 en 900000000000550004 A rare autosomal recessive inherited disorder caused by mutations in the SERAC1 gene. Multiple body systems are affected with manifestations including 3-methylglutaconic aciduria, deafness, encephalopathy and Leigh-like disease. 900000000000017005 3285411013 20160131 1 900000000000207008 712756001 en 900000000000550004 Involves the administration of a short-acting vasodilator followed by measurement of the haemodynamic response using a right heart catheterisation. 900000000000017005 3285412018 20160131 1 900000000000207008 712756001 en 900000000000550004 Involves the administration of a short-acting vasodilator followed by measurement of the hemodynamic response using a right heart catheterization. 900000000000017005 3285506013 20160131 1 900000000000207008 712798003 en 900000000000550004 Clusters of enlarged lymph nodes which are small, often hard and usually of no clinical concern. They have a similar feel to buckshot or pellets. 900000000000017005 3285681013 20160131 1 900000000000207008 712832005 en 900000000000550004 A systolic blood pressure ≥150 mm Hg or diastolic blood pressure ≥90 mm Hg while lying down. 900000000000017005 3285682018 20160131 1 900000000000207008 712825001 en 900000000000550004 A score for hospitalised patients which predicts the risk of patients returning for avoidable reasons. 900000000000017005 3285683011 20160131 1 900000000000207008 302283001 en 900000000000550004 The person actively helps with dressing, they may lift their feet for a pant opening or a child may help by pushing their arm through a sleeve. 900000000000017005 3285684017 20160131 1 900000000000207008 712825001 en 900000000000550004 A score for hospitalized patients which predicts the risk of patients returning for avoidable reasons. 900000000000017005 3285685016 20160131 1 900000000000207008 302284007 en 900000000000550004 The person may not be able to actively assist but they act jointly to being dressed and do not, for example, fight the caretaker. 900000000000017005 3286254014 20160131 1 900000000000207008 712877007 en 900000000000550004 An area set up to provide health care services on a temporary basis for a specific short-lived period during an outbreak of illness eg. influenza. 900000000000017005 3286255010 20160131 1 900000000000207008 411123000 en 900000000000550004 A complex mixture consisting of allergenic proteins derived from natural sources used for allergy diagnosis by skin or provocation testing. 900000000000017005 3286262018 20160131 1 900000000000207008 30956003 en 900000000000550004 Bilateral removal of more than 50% of each lobe including the isthmus. 900000000000017005 3286263011 20160131 1 900000000000207008 53533006 en 900000000000550004 Excision of a thyroid nodule with a large margin of normal thyroid tissue. 900000000000017005 3286263011 20180131 0 900000000000207008 53533006 en 900000000000550004 Excision of a thyroid nodule with a large margin of normal thyroid tissue. 900000000000017005 3287428012 20160131 1 900000000000207008 176028006 en 900000000000550004 End-to-end anastomosis of the segments of the same ureter, with excision of the intervening injured or scarred ureter. 900000000000017005 3288024018 20160131 1 900000000000207008 713054000 en 900000000000550004 Person has been witness to an adult misusing alcohol. 900000000000017005 3288025017 20160131 1 900000000000207008 713053006 en 900000000000550004 Person has been witness to an adult misusing substances. 900000000000017005 3288026016 20160131 1 900000000000207008 713040008 en 900000000000550004 Non-invasive change of the pressure setting of an implanted adjustable valve without the need for another surgical procedure. 900000000000017005 3288048010 20160131 1 900000000000207008 713042000 en 900000000000550004 With the individual at the center, this is a map of everything that may affect an individual including interactions with family, friends, business associations, religious community, and any other social or educational groups or clubs. It is often used in counseling by social workers or nurses. 900000000000017005 3288049019 20160131 1 900000000000207008 713042000 en 900000000000550004 With the individual at the centre, this is a map of everything that may affect an individual including interactions with family, friends, business associations, religious community, and any other social or educational groups or clubs. It is often used in counselling by social workers or nurses. 900000000000017005 3288188019 20160131 1 900000000000012004 704324001 en 900000000000550004 This attribute specifies the substance or body structure produced by the process characterized by the observable property type. 900000000000017005 3288188019 20210131 0 900000000000012004 704324001 en 900000000000550004 This attribute specifies the substance or body structure produced by the process characterized by the observable property type. 900000000000017005 3288238015 20160131 1 900000000000207008 713149007 en 900000000000550004 Facilitating a patient's ability to perform a role--e.g., parenting role, work role. 900000000000017005 3288238015 20200131 0 900000000000207008 713149007 en 900000000000550004 Facilitating a patient's ability to perform a role--e.g., parenting role, work role. 900000000000017005 3288239011 20160131 1 900000000000207008 713148004 en 900000000000550004 Care given to improve the quality of life of patients who have a serious or life-threatening disease. The goal of symptom management is to prevent or treat as early as possible the symptoms of a disease, side effects caused by treatment of a disease, and psychological, social, and spiritual problems related to a disease or its treatment. 900000000000017005 3288372014 20160131 1 900000000000207008 713194001 en 900000000000550004 Oxygen saturation of blood sampled from a central venous catheter. 900000000000017005 3288740014 20160131 1 900000000000207008 86273004 en 900000000000550004 Removal of tissue for diagnostic examination. 900000000000017005 3288741013 20160131 1 900000000000207008 122459003 en 900000000000550004 A separation of different structures along natural cleavage lines by dividing the connective tissue framework. 900000000000017005 3289189015 20160131 1 900000000000207008 713400007 en 900000000000550004 Activation of a call to a medical rapid response team to assess and treat acutely ill and rapidly deteriorating patients. This may or may not include cardiac arrest. 900000000000017005 3289328019 20160131 1 900000000000207008 713411004 en 900000000000550004 Inability to evacuate bowels properly, characterized by difficulty passing motions and a sensation of blockage or incomplete emptying. 900000000000017005 3289950013 20160131 1 900000000000207008 105651000119100 en 900000000000550004 History of high blood pressure and protein in urine during pregnancy. 900000000000017005 3290273019 20160131 1 900000000000207008 31031000119102 en 900000000000550004 The multiple, potentially reversible changes in body systems brought about by physical inactivity and disuse. 900000000000017005 3290275014 20160131 1 900000000000207008 691471000119109 en 900000000000550004 Transitory imbalance that may be caused by exercise, tachycardia, or emotion. It is characterized by angina because of the increased oxygen demand. 900000000000017005 3297681011 20160131 1 900000000000207008 713772004 en 900000000000550004 A line extending from the incisal tip of the most protrusive lower incisor thru the root tip. 900000000000017005 3297682016 20160131 1 900000000000207008 713768003 en 900000000000550004 A line extending from the intersection of the internasal and frontonasal sutures, in the midsagittal plane (nasion) and the most anterior point of the alveolar process of the mandible (infradentale). 900000000000017005 3297683014 20160131 1 900000000000207008 713777005 en 900000000000550004 A form of spondyloarthritis in which the predominant symptom is back pain, and where radiographic sacroiliitis might or might not be present. 900000000000017005 3297684015 20160131 1 900000000000207008 713771006 en 900000000000550004 A line extending from the most inferior point of the mandibular symphysis in the midsagittal plane (menton) to the most posterior inferior point on the outline of the angle of the mandible (gonion). 900000000000017005 3297686018 20160131 1 900000000000207008 713756007 en 900000000000550004 A line joining points sella and nasion. 900000000000017005 3297687010 20160131 1 900000000000207008 713775002 en 900000000000550004 A new narcotic or psychotropic drug that is not controlled by the United Nations drug conventions, but which may pose a public health threat comparable to that posed by substances listed in these conventions. 900000000000017005 3297688017 20160131 1 900000000000207008 713767008 en 900000000000550004 A line extending from the intersection of the internasal and frontonasal sutures, in the midsagittal plane (nasion) and the junction of frontal bone and nasal bone (a point). 900000000000017005 3297689013 20160131 1 900000000000207008 713755006 en 900000000000550004 An anatomic point located in the centre of the rectangle, at the intersection of the diagonals, formed by the Frankfort horizontal and pterygoid root vertical planes (PTV). 900000000000017005 3297690016 20160131 1 900000000000207008 713766004 en 900000000000550004 A line extending from the intersection of the internasal and frontonasal sutures, in the midsagittal plane (nasion) and the most posterior inferior point on the outline of the angle of the mandible (gonion). 900000000000017005 3297691017 20160131 1 900000000000207008 713770007 en 900000000000550004 The mesial contact point of the maxillary permanent first molar. 900000000000017005 3297692012 20160131 1 900000000000207008 713765000 en 900000000000550004 A line extending from the intersection of the internasal and frontonasal sutures, in the midsagittal plane (nasion) and the most anterior point of bony chin (pogonion). 900000000000017005 3297693019 20160131 1 900000000000207008 713744006 en 900000000000550004 A line connecting the midpoint of the sella turcica (Sella) to the most anterior inferior point of chin (Gnathion). 900000000000017005 3297694013 20160131 1 900000000000207008 713755006 en 900000000000550004 An anatomic point located in the center of the rectangle, at the intersection of the diagonals, formed by the Frankfort horizontal and pterygoid root vertical planes (PTV). 900000000000017005 3297695014 20160131 1 900000000000207008 713759000 en 900000000000550004 A line extending from the intersection of the internasal and frontonasal sutures, in the midsagittal plane (nasion) and the most inferior anterior point on the maxillary alveolar process, between the central incisors (prosthion). 900000000000017005 3297854014 20160131 1 900000000000207008 713864005 en 900000000000550004 The center point of sella turcica used as a landmark in cephalometrics. 900000000000017005 3297855010 20160131 1 900000000000207008 713834002 en 900000000000550004 A form of sexual abuse where the child is sexually exploited for money, power or status. 900000000000017005 3297856011 20160131 1 900000000000207008 713849005 en 900000000000550004 The point of the upper alveolar process that projects most anteriorly in the midline. 900000000000017005 3297857019 20160131 1 900000000000207008 713836000 en 900000000000550004 The issuing of any medication that is provided to anticipate possible exacerbation of a chronic condition such as asthma or chronic obstructive pulmonary disease. 900000000000017005 3297858012 20160131 1 900000000000207008 713852002 en 900000000000550004 The most anterior inferior point on the bony outline of the chin in the midsagittal plane. 900000000000017005 3297859016 20160131 1 900000000000207008 713850005 en 900000000000550004 The lowest point on the anterior rim of the foramen magnum. 900000000000017005 3297860014 20160131 1 900000000000207008 713848002 en 900000000000550004 A line connecting the anterior nasal spine to the posterior nasal spine. 900000000000017005 3297861013 20160131 1 900000000000207008 713864005 en 900000000000550004 The centre point of sella turcica used as a landmark in cephalometrics. 900000000000017005 3297862018 20160131 1 900000000000207008 713838004 en 900000000000550004 Ensuring the patient is taking their medicine as intended in order to support the management of long-term conditions, multimorbidities and polypharmacy. 900000000000017005 3297863011 20160131 1 900000000000207008 713875009 en 900000000000550004 Nerve block between pectoralis major and minor with the therapeutic goal of blocking the medial and lateral pectoral nerves. 900000000000017005 3297864017 20160131 1 900000000000207008 713851009 en 900000000000550004 A line extending from a constructed point representing the intersection of the inferior surface of the cranial base and the posterior outlines of the mandibular condyles to the most posterior inferior point on the outline of the angle of the mandible. 900000000000017005 3298048012 20160131 1 900000000000207008 713879003 en 900000000000550004 Local contributing factors include improperly contoured restorations, missing or worn restorations, or gingival architecture that is unusual and allows for accumulation of food debris. 900000000000017005 3298282014 20160131 1 900000000000207008 713973003 en 900000000000550004 An imaginary curved plane formed by the incisal edges of the anterior teeth and the occlusal surfaces of the posterior teeth. 900000000000017005 3298283016 20160131 1 900000000000207008 713966008 en 900000000000550004 Chronic hepatitis B with negative hepatitis B surface antigen and low level viral replication but positive hepatitis B virus deoxyribonucleic acid test. 900000000000017005 3298743013 20160131 1 900000000000207008 713126005 en 900000000000550004 Formal, planned, and structured event separate from regular contacts. Provides holistic, coordinated, and integrated multidisciplinary services and includes where possible and appropriate, the client and family members/close supports. 900000000000017005 3298744019 20160131 1 900000000000207008 714150002 en 900000000000550004 A radiographic technique used for showing true dimensions by moving a narrow orthogonal beam of x-rays along the length of the structure being measured. 900000000000017005 3298745018 20160131 1 900000000000207008 714107007 en 900000000000550004 Failure of neuromuscular block reversal agents to antagonise a neuro muscular blocking drug. 900000000000017005 3298746017 20160131 1 900000000000207008 714126004 en 900000000000550004 Gingivitis involving the entire mouth or more than 30 percent of the surfaces. 900000000000017005 3298747014 20160131 1 900000000000207008 714093000 en 900000000000550004 Sexual activity has occurred in the six months prior to the current time. 900000000000017005 3298748016 20160131 1 900000000000207008 714096008 en 900000000000550004 Sexual activity has occurred in the month prior to the current time. 900000000000017005 3298750012 20160131 1 900000000000207008 714095007 en 900000000000550004 Sexual activity has occurred in the year prior to the current time. 900000000000017005 3299932015 20160131 1 900000000000207008 714250007 en 900000000000550004 A sterile, flexible, single-lumen tube intended to be introduced into the trachea of a neonate for the administration of exogenous surfactant as part of pulmonary surfactant therapy. 900000000000017005 3299933013 20160131 1 900000000000207008 714478005 en 900000000000550004 Inflammation characterised by gingival redness and swelling with bleeding on probing (provocation). 900000000000017005 3299934019 20160131 1 900000000000207008 714477000 en 900000000000550004 Inflammation characterized by gingival redness and swelling with spontaneous bleeding. 900000000000017005 3299936017 20160131 1 900000000000207008 714280002 en 900000000000550004 The point at which the lower margin of the nasal septum meets the upper lip in the midsagittal plane. 900000000000017005 3299937014 20160131 1 900000000000207008 714279000 en 900000000000550004 A progressive chronic inflammatory disease of the central nervous system with the aetiologic agent Human T cell lymphotropic virus type I (HTLV-I), the disease is characterised by unremitting myelopathic symptoms such as spastic paraparesis, bowel and/or bladder dysfunction and sensory changes of the lower limbs. 900000000000017005 3299938016 20160131 1 900000000000207008 714628002 en 900000000000550004 Characterized by blood glucose levels that are higher than normal but not yet high enough to be classed as diabetes. Indicates a relatively high risk for the future development of diabetes. 900000000000017005 3299939012 20160131 1 900000000000207008 714628002 en 900000000000550004 Characterised by blood glucose levels that are higher than normal but not yet high enough to be classed as diabetes. Indicates a relatively high risk for the future development of diabetes. 900000000000017005 3299940014 20160131 1 900000000000207008 714477000 en 900000000000550004 Inflammation characterised by gingival redness and swelling with spontaneous bleeding. 900000000000017005 3299941013 20160131 1 900000000000207008 714249007 en 900000000000550004 Gingival redness and swelling. 900000000000017005 3299942018 20160131 1 900000000000207008 714485009 en 900000000000550004 Gingivitis involving less than 30% of the gingiva. 900000000000017005 3299943011 20160131 1 900000000000207008 714279000 en 900000000000550004 A progressive chronic inflammatory disease of the central nervous system with the etiologic agent Human T cell lymphotropic virus type I (HTLV-I), the disease is characterized by unremitting myelopathic symptoms such as spastic paraparesis, bowel and/or bladder dysfunction and sensory changes of the lower limbs. 900000000000017005 3299944017 20160131 1 900000000000207008 714478005 en 900000000000550004 Inflammation characterized by gingival redness and swelling with bleeding on probing (provocation). 900000000000017005 3300040018 20160131 1 900000000000207008 714743009 en 900000000000550004 A route that occurs outside of the body. 900000000000017005 3300222012 20160131 1 900000000000207008 713351000 en 900000000000550004 Multi Drug Resistance (MDR) is defined as non-susceptibility to at least one agent in three or more epidemiologically significant antimicrobial categories. Non-susceptibility refers to either a resistant, intermediate or non-susceptible result obtained from in vitro antimicrobial susceptibility testing. http://onlinelibrary.wiley.com/enhanced/doi/10.1111/j.1469-0691.2011.03570.x/ (Accessed on 6 October 2015) 900000000000017005 3300222012 20170131 0 900000000000207008 713351000 en 900000000000550004 Multi Drug Resistance (MDR) is defined as non-susceptibility to at least one agent in three or more epidemiologically significant antimicrobial categories. Non-susceptibility refers to either a resistant, intermediate or non-susceptible result obtained from in vitro antimicrobial susceptibility testing. http://onlinelibrary.wiley.com/enhanced/doi/10.1111/j.1469-0691.2011.03570.x/ (Accessed on 6 October 2015) 900000000000017005 3300223019 20160131 1 900000000000207008 713757003 en 900000000000550004 A line extending from the intersection of the internasal and frontonasal sutures, in the midsagittal plane (nasion) and the anterior limit of the mandibular basal bone (b point). 900000000000017005 3300224013 20160131 1 900000000000207008 714789002 en 900000000000550004 Extensive drug resistance (XDR) is defined as non-susceptibility to at least one agent in all but two or fewer epidemiologically significant antimicrobial categories (i.e. bacterial isolates remain susceptible to only one or two categories). Non-susceptibility refers to either a resistant, intermediate or non-susceptible result obtained from in vitro antimicrobial susceptibility testing. http://onlinelibrary.wiley.com/enhanced/doi/10.1111/j.1469-0691.2011.03570.x/ (Accessed on 6 October 2015) 900000000000017005 3300224013 20170131 0 900000000000207008 714789002 en 900000000000550004 Extensive drug resistance (XDR) is defined as non-susceptibility to at least one agent in all but two or fewer epidemiologically significant antimicrobial categories (i.e. bacterial isolates remain susceptible to only one or two categories). Non-susceptibility refers to either a resistant, intermediate or non-susceptible result obtained from in vitro antimicrobial susceptibility testing. http://onlinelibrary.wiley.com/enhanced/doi/10.1111/j.1469-0691.2011.03570.x/ (Accessed on 6 October 2015) 900000000000017005 3300225014 20160131 1 900000000000207008 714792003 en 900000000000550004 Pandrug resistance (PDR) is defined as non-susceptibility to all agents in all epidemiologically significant antimicrobial categories (i.e. no agents tested as susceptible for that organism). Non-susceptibility refers to either a resistant, intermediate or non-susceptible result obtained from in vitro antimicrobial susceptibility testing. http://onlinelibrary.wiley.com/enhanced/doi/10.1111/j.1469-0691.2011.03570.x/ (Accessed on 6 October 2015) 900000000000017005 3300225014 20170131 0 900000000000207008 714792003 en 900000000000550004 Pandrug resistance (PDR) is defined as non-susceptibility to all agents in all epidemiologically significant antimicrobial categories (i.e. no agents tested as susceptible for that organism). Non-susceptibility refers to either a resistant, intermediate or non-susceptible result obtained from in vitro antimicrobial susceptibility testing. http://onlinelibrary.wiley.com/enhanced/doi/10.1111/j.1469-0691.2011.03570.x/ (Accessed on 6 October 2015) 900000000000017005 3301330018 20160131 1 900000000000207008 713381008 en 900000000000550004 The administration of lipid emulsion solutions (parenteral nutrition solutions such as intralipid) to treat local anaesthetic toxicity. 900000000000017005 3301330018 20220630 0 900000000000207008 713381008 en 900000000000550004 The administration of lipid emulsion solutions (parenteral nutrition solutions such as intralipid) to treat local anaesthetic toxicity. 900000000000017005 3301331019 20160131 1 900000000000207008 713381008 en 900000000000550004 The administration of lipid emulsion solutions (parenteral nutrition solutions such as intralipid) to treat local anesthetic toxicity. 900000000000017005 3301331019 20220630 0 900000000000207008 713381008 en 900000000000550004 The administration of lipid emulsion solutions (parenteral nutrition solutions such as intralipid) to treat local anesthetic toxicity. 900000000000017005 3301699010 20160131 1 900000000000207008 404818005 en 900000000000550004 A route that begins inside of the trachea specifically, and does not include the potential administration directly to pulmonary locations. 900000000000017005 3301700011 20160131 1 900000000000207008 715074009 en 900000000000550004 Insertion of an osseointegrated prosthesis to form a direct interface between the implant and the bone, without intervening soft tissue. 900000000000017005 3301843014 20160731 1 900000000000207008 715197005 en 900000000000550004 Fetopathy likely to occur when a pregnant woman is infected by parvovirus B19. In adults, the virus causes a butterfly erythema infectiosum (also called Fifth Disease; 'slapped cheek disease') and flu-like symptoms with symmetric polyarthralgias. 900000000000017005 3301854016 20160731 1 900000000000207008 715201005 en 900000000000550004 A rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive. 900000000000017005 3301897014 20160731 1 900000000000207008 715216008 en 900000000000550004 Rare multiple congenital contracture syndrome characterized by contractures of distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. 900000000000017005 3301906013 20160731 1 900000000000207008 715218009 en 900000000000550004 Characterized by severe hypercalcemia from birth and associated with major hyperparathyroidism. The prevalence is unknown, clinical manifestations are early and severe including respiratory distress, bone under mineralization and multiple fractures. 900000000000017005 3301960017 20160731 1 900000000000207008 715215007 en 900000000000550004 Syndrome associated with an increased risk of developing Wilms tumor, which can occur at any age, and with total or partial aniridia with possible glaucoma or cataract, genitourinary disorders ranging from sexual ambiguity to ectopia testis, and variable degrees of intellectual deficit. The syndrome is due to a microdeletion in the 11p13 region of chromosome 11, the microdeletion is de novo in most cases, but it may result from an inherited parental translocation. 900000000000017005 3301961018 20160731 1 900000000000207008 715215007 en 900000000000550004 Syndrome associated with an increased risk of developing Wilms tumour, which can occur at any age, and with total or partial aniridia with possible glaucoma or cataract, genitourinary disorders ranging from sexual ambiguity to ectopia testis, and variable degrees of intellectual deficit. The syndrome is due to a microdeletion in the 11p13 region of chromosome 11, the microdeletion is de novo in most cases, but it may result from an inherited parental translocation. 900000000000017005 3301962013 20160731 1 900000000000207008 715218009 en 900000000000550004 Characterised by severe hypercalcaemia from birth and associated with major hyperparathyroidism. The prevalence is unknown, clinical manifestations are early and severe including respiratory distress, bone under mineralisation and multiple fractures. 900000000000017005 3301964014 20160731 1 900000000000207008 715216008 en 900000000000550004 Rare multiple congenital contracture syndrome characterised by contractures of distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. 900000000000017005 3301965010 20160731 1 900000000000207008 715201005 en 900000000000550004 A rare intestinal disorder of neonates of unknown aetiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhoea, vomiting and failure to thrive. 900000000000017005 3301971016 20160731 1 900000000000207008 715241001 en 900000000000550004 Characterized by bilateral renal agenesis or dysplasia, megacystis secondary to urethral obstruction and sirenomelia. The disorder is lethal. 900000000000017005 3301972011 20160731 1 900000000000207008 715241001 en 900000000000550004 Characterised by bilateral renal agenesis or dysplasia, megacystis secondary to urethral obstruction and sirenomelia. The disorder is lethal. 900000000000017005 3302083019 20160731 1 900000000000207008 715282001 en 900000000000550004 Used in the prevention of problems associated with poor diet and inactivity for example in schizophrenia where drug side effects can cause weight gain. 900000000000017005 3302093014 20160731 1 900000000000207008 715285004 en 900000000000550004 Chronic separation of the periodontal tissue from the root by 1-2 millimeters of clinical attachment loss in less than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 3302095019 20160731 1 900000000000207008 715285004 en 900000000000550004 Chronic separation of the periodontal tissue from the root by 1-2 millimetres of clinical attachment loss in less than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 3302098017 20160731 1 900000000000207008 715286003 en 900000000000550004 Chronic separation of the periodontal tissue from the root by 3-4 millimeters of clinical attachment loss in less than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 3302099013 20160731 1 900000000000207008 715286003 en 900000000000550004 Chronic separation of the periodontal tissue from the root by 3-4 millimetres of clinical attachment loss in less than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 3302103015 20160731 1 900000000000207008 715287007 en 900000000000550004 Chronic separation of the periodontal tissue from the root by 5 millimeters or more of clinical attachment loss in less than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 3302104014 20160731 1 900000000000207008 715287007 en 900000000000550004 Chronic separation of the periodontal tissue from the root by 5 millimetres or more of clinical attachment loss in less than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 3302126010 20160731 1 900000000000207008 715192004 en 900000000000550004 Characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter relaxation in response to deglutition. A rare disease with no gender predilection, the peak incidence occurs between 30 and 60 years of age. Although the precise etiology is unknown, it is often thought to be either autoimmune, viral immune, or neurodegenerative. Some familial cases have been reported, but the rarity of familial occurrence does not support the hypothesis that genetic inheritance is a significant etiologic factor. 900000000000017005 3302127018 20160731 1 900000000000207008 715192004 en 900000000000550004 Characterised by loss of oesophageal peristalsis and insufficient lower oesophageal sphincter relaxation in response to deglutition. A rare disease with no gender predilection, the peak incidence occurs between 30 and 60 years of age. Although the precise aetiology is unknown, it is often thought to be either autoimmune, viral immune, or neurodegenerative. Some familial cases have been reported, but the rarity of familial occurrence does not support the hypothesis that genetic inheritance is a significant aetiologic factor. 900000000000017005 3302196016 20160731 1 900000000000207008 715314008 en 900000000000550004 An autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis. 900000000000017005 3302197013 20160731 1 900000000000207008 715314008 en 900000000000550004 An autosomal dominant congenital anomaly characterised by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis 900000000000017005 3302201013 20160731 1 900000000000207008 715316005 en 900000000000550004 A form of arthrogryposis multiplex congenital characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is caused by neurogenic muscular atrophy. 900000000000017005 3302202018 20160731 1 900000000000207008 715316005 en 900000000000550004 A form of arthrogryposis multiplex congenital characterised by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is caused by neurogenic muscular atrophy. 900000000000017005 3302208019 20160731 1 900000000000207008 715317001 en 900000000000550004 A multisystemic disease characterised by the association of proximal muscle weakness with myotonia, cardiac manifestations and cataract. Patients usually present during adulthood. There are no reports of congenital or childhood onset but a rare juvenile form of the disease has been described. The disease is transmitted in an autosomal dominant manner and is caused by expansion of a CCTG repeat in intron 1 of the CNBP gene (3q21). 900000000000017005 3302209010 20160731 1 900000000000207008 715317001 en 900000000000550004 A multisystemic disease characterized by the association of proximal muscle weakness with myotonia, cardiac manifestations and cataract. Patients usually present during adulthood. There are no reports of congenital or childhood onset but a rare juvenile form of the disease has been described. The disease is transmitted in an autosomal dominant manner and is caused by expansion of a CCTG repeat in intron 1 of the CNBP gene (3q21). 900000000000017005 3302213015 20160731 1 900000000000207008 715318006 en 900000000000550004 A form of Ehlers-Danlos syndrome that affects the soft connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility. 900000000000017005 3302214014 20160731 1 900000000000207008 715318006 en 900000000000550004 A form of Ehlers-Danlos syndrome that affects the soft connective tissue and is characterised by skin hyperextensibility, widened atrophic scars and joint hypermobility. 900000000000017005 3302264019 20160731 1 900000000000207008 715223009 en 900000000000550004 Acquired developmental anomaly syndrome characterized by skin, neural, ocular, limbs and growth defects secondary to Varicella-Zoster virus infection. 900000000000017005 3302265018 20160731 1 900000000000207008 715223009 en 900000000000550004 Acquired developmental anomaly syndrome characterised by skin, neural, ocular, limbs and growth defects secondary to Varicella-Zoster virus infection. 900000000000017005 3302267014 20160731 1 900000000000207008 715337002 en 900000000000550004 A group of anomalies that may result from maternal infection and subsequent fetal infection with the Herpes virus. The virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent. Pregnancy complications including preterm delivery, intrauterine growth retardation, and neonatal infection have been attributed to the Herpes virus. Exposure of the fetus to Herpes virus at the time of delivery carries a serious risk of infection for the newborn. 900000000000017005 3302272017 20160731 1 900000000000207008 715338007 en 900000000000550004 Congenital lactic acidosis is defined by the presence of a metabolic acidosis due to the accumulation of lactic acid in blood. Congenital defects of any one of the multiple enzymatic steps of pyruvate utilization induce accumulation of pyruvate and lactate, but usually to levels that do not provoke metabolic acidosis. Lactic acidosis is therefore an extreme situation, due either to very severe defects or to acute metabolic crisis associated with less severe defects. It occurs mostly in neonates or very young infants, with polypnea, severe hypotonia, lethargy, and vomiting, after a silent period during which the children were considered as normal. Facial dysmorphism and cerebral malformations may be noted, as well as diverse organ involvement such as hypertrophic myocardiopathy, tubulopathy, or liver insufficiency. 900000000000017005 3302273010 20160731 1 900000000000207008 715338007 en 900000000000550004 Congenital lactic acidosis is defined by the presence of a metabolic acidosis due to the accumulation of lactic acid in blood. Congenital defects of any one of the multiple enzymatic steps of pyruvate utilisation induce accumulation of pyruvate and lactate, but usually to levels that do not provoke metabolic acidosis. Lactic acidosis is therefore an extreme situation, due either to very severe defects or to acute metabolic crisis associated with less severe defects. It occurs mostly in neonates or very young infants, with polypnoea, severe hypotonia, lethargy, and vomiting, after a silent period during which the children were considered as normal. Facial dysmorphism and cerebral malformations may be noted, as well as diverse organ involvement such as hypertrophic myocardiopathy, tubulopathy, or liver insufficiency. 900000000000017005 3302277011 20160731 1 900000000000207008 715339004 en 900000000000550004 Opacification and vascularization of the cornea, often associated with macula hypoplasia. The prevalence is unknown. The syndrome is transmitted in an autosomal dominant manner and is associated with mutations in the PAX6 gene. The presence of macular hypoplasia and iris anomalies in some familial cases suggest that in these cases the disease may be a form of aniridia. 900000000000017005 3302278018 20160731 1 900000000000207008 715339004 en 900000000000550004 Opacification and vascularisation of the cornea, often associated with macula hypoplasia. The prevalence is unknown. The syndrome is transmitted in an autosomal dominant manner and is associated with mutations in the PAX6 gene. The presence of macular hypoplasia and iris anomalies in some familial cases suggest that in these cases the disease may be a form of aniridia. 900000000000017005 3302281011 20160731 1 900000000000207008 715340002 en 900000000000550004 Limb girdle muscular dystrophy characterized by limb-girdle weakness and calf pseudohypertrophy. 900000000000017005 3302282016 20160731 1 900000000000207008 715340002 en 900000000000550004 Limb girdle muscular dystrophy characterised by limb-girdle weakness and calf pseudohypertrophy. 900000000000017005 3302287010 20160731 1 900000000000207008 715341003 en 900000000000550004 A limb girdle muscular dystrophy characterized by symmetrical and selective atrophy and weakness of proximal limb and girdle muscles without cardiac or facial disturbances. 900000000000017005 3302288017 20160731 1 900000000000207008 715341003 en 900000000000550004 A limb girdle muscular dystrophy characterised by symmetrical and selective atrophy and weakness of proximal limb and girdle muscles without cardiac or facial disturbances. 900000000000017005 3302294013 20160731 1 900000000000207008 715342005 en 900000000000550004 In males the syndrome is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal. Language is usually very limited. Seizures occur in about one third of the cases. While many patients are affectionate with their caregivers, some exhibit autistic-like behaviour. Patients present with facial hypotonia and a characteristic mouth. Genital abnormalities are observed in 80% of children and range from undescended testes to ambiguous genitalia. This syndrome is X-linked recessive and results from mutations in the ATRX gene. 900000000000017005 3302295014 20160731 1 900000000000207008 715342005 en 900000000000550004 In males the syndrome is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia. Female carriers are usually physically and intellectually normal. Language is usually very limited. Seizures occur in about one third of the cases. While many patients are affectionate with their caregivers, some exhibit autistic-like behavior. Patients present with facial hypotonia and a characteristic mouth. Genital abnormalities are observed in 80% of children and range from undescended testes to ambiguous genitalia. This syndrome is X-linked recessive and results from mutations in the ATRX gene. 900000000000017005 3302299015 20160731 1 900000000000207008 715343000 en 900000000000550004 A rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone). It is due to mutations of the /CYP11B2/ (aldosterone synthase) gene and usually presents in infancy as a life-threatening electrolyte imbalance. 900000000000017005 3302305018 20160731 1 900000000000207008 715344006 en 900000000000550004 A variant of neurofibromatosis type 1 characterized by the combination of features of neurofibromatosis type 1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome, with features such as short stature, typical facial features, congenital heart defects and unusual pectus deformity. 900000000000017005 3302306017 20160731 1 900000000000207008 715344006 en 900000000000550004 A variant of neurofibromatosis type 1 characterised by the combination of features of neurofibromatosis type 1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome, with features such as short stature, typical facial features, congenital heart defects and unusual pectus deformity. 900000000000017005 3302312010 20160731 1 900000000000207008 715345007 en 900000000000550004 A form of Parkinson disease with age of onset between 21 and 45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints, falls and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most forms. The exact etiology is still unknown. Gene mutations have been implicated in some cases, most cases are sporadic however familial cases have been reported in which an autosomal recessive mode of inheritance has been suggested. 900000000000017005 3302313017 20160731 1 900000000000207008 715345007 en 900000000000550004 A form of Parkinson disease with age of onset between 21 and 45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints, falls and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most forms. The exact aetiology is still unknown. Gene mutations have been implicated in some cases, most cases are sporadic however familial cases have been reported in which an autosomal recessive mode of inheritance has been suggested. 900000000000017005 3302365015 20160731 1 900000000000207008 715365000 en 900000000000550004 A very rare chromosomal disorder of unknown prevalence characterized by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. 900000000000017005 3302373012 20160731 1 900000000000207008 715366004 en 900000000000550004 A rare autosomal recessive cerebellar ataxia characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia. Cerebellar ataxia is the first manifestation of AOA1 with progressive gait imbalance followed by dysarthria, and limb dysmetria. Later, peripheral axonal motor neuropathy dominates the clinical picture. Oculomotor apraxia is present in almost all individuals with AOA1. Chorea is present at onset in 80% of patients and upper limb dystonia occurs in about 50% of individuals. Additional features include square wave jerks, saccadic pursuit and gaze-evoked nystagmus, areflexia followed by severe peripheral neuropathy. Variable intellectual disability is observed. 900000000000017005 3302374018 20160731 1 900000000000207008 715366004 en 900000000000550004 A rare autosomal recessive cerebellar ataxia characterised by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminaemia. Cerebellar ataxia is the first manifestation of AOA1 with progressive gait imbalance followed by dysarthria, and limb dysmetria. Later, peripheral axonal motor neuropathy dominates the clinical picture. Oculomotor apraxia is present in almost all individuals with AOA1. Chorea is present at onset in 80% of patients and upper limb dystonia occurs in about 50% of individuals. Additional features include square wave jerks, saccadic pursuit and gaze-evoked nystagmus, areflexia followed by severe peripheral neuropathy. Variable intellectual disability is observed. 900000000000017005 3302381013 20160731 1 900000000000207008 715369006 en 900000000000550004 In this disorder cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. The mode of inheritance in the few reported families is autosomal recessive. 900000000000017005 3302382018 20160731 1 900000000000207008 715369006 en 900000000000550004 In this disorder cerebellar ataxia is congenital (non-progressive) and characterised by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. The mode of inheritance in the few reported families is autosomal recessive. 900000000000017005 3302388019 20160731 1 900000000000207008 715371006 en 900000000000550004 A very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates cerebellar atrophy. 900000000000017005 3302389010 20160731 1 900000000000207008 715371006 en 900000000000550004 A very rare disease, characterised by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates cerebellar atrophy. 900000000000017005 3302397015 20160731 1 900000000000207008 715374003 en 900000000000550004 A variant of autosomal dominant optic atrophy associating typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness. ADOA plus is caused by mutations in the OPA1 gene (3q29), encoding a dynamin-like GTPase involved in the fusion of the inner mitochondrial membrane. The phenotypes observed in ADOA plus are thus related to mitochondrial DNA instability resulting in multiple mitochondrial DNA deletions. Transmission is autosomal dominant with variable penetrance. 900000000000017005 3302433019 20160731 1 900000000000207008 715365000 en 900000000000550004 A very rare chromosomal disorder of unknown prevalence characterised by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. 900000000000017005 3302435014 20160731 1 900000000000207008 715391004 en 900000000000550004 An ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus that can appear associated with or without premature ovarian failure. The disorder is congenital. Additional features include lacrimal duct anomalies, broad nasal bridge, low-set ears, and a short philtrum. Occurs either sporadically (de novo) or, for the eyelid phenotype, is inherited in an autosomal dominant manner with complete penetrance. 900000000000017005 3302436010 20160731 1 900000000000207008 715391004 en 900000000000550004 An ophthalmic disorder characterised by blepharophimosis, ptosis, epicanthus inversus, and telecanthus that can appear associated with or without premature ovarian failure. The disorder is congenital. Additional features include lacrimal duct anomalies, broad nasal bridge, low-set ears, and a short philtrum. Occurs either sporadically (de novo) or, for the eyelid phenotype, is inherited in an autosomal dominant manner with complete penetrance. 900000000000017005 3302452013 20160731 1 900000000000207008 715395008 en 900000000000550004 Inherited atrial fibrillation that is not due to a structural abnormality or secondary cause. The condition usually occurs in people under 60 years of age. 900000000000017005 3302458012 20160731 1 900000000000207008 715397000 en 900000000000550004 A rare benign liver tumor of childhood that usually presents before the age of 2. The tumor is of mesenchymal origin and has a variable clinical presentation. 900000000000017005 3302459016 20160731 1 900000000000207008 715397000 en 900000000000550004 A rare benign liver tumour of childhood that usually presents before the age of 2. The tumour is of mesenchymal origin and has a variable clinical presentation. 900000000000017005 3302474019 20160731 1 900000000000207008 715401008 en 900000000000550004 An autoimmune disorder characterized by the association of primary biliary cirrhosis with limited cutaneous systemic sclerosis. Onset occurs between 30-65 years. Occurs sporadically, but rare familial cases with an unknown inheritance pattern have been observed. There is no cure and management is mainly supportive. 900000000000017005 3302475018 20160731 1 900000000000207008 715401008 en 900000000000550004 An autoimmune disorder characterised by the association of primary biliary cirrhosis with limited cutaneous systemic sclerosis. Onset occurs between 30-65 years. Occurs sporadically, but rare familial cases with an unknown inheritance pattern have been observed. There is no cure and management is mainly supportive. 900000000000017005 3302478016 20160731 1 900000000000207008 715402001 en 900000000000550004 A rare condition characterized by generalized, partial, target tissue resistance to glucocorticoids. The clinical spectrum of the condition is broad, ranging from asymptomatic to severe cases of hyperandrogenism, fatigue and/or mineralocorticoid excess. The molecular basis of glucocorticoid resistance has been ascribed to mutations in the GR gene. 900000000000017005 3302479012 20160731 1 900000000000207008 715402001 en 900000000000550004 A rare condition characterised by generalised, partial, target tissue resistance to glucocorticoids. The clinical spectrum of the condition is broad, ranging from asymptomatic to severe cases of hyperandrogenism, fatigue and/or mineralocorticoid excess. The molecular basis of glucocorticoid resistance has been ascribed to mutations in the GR gene. 900000000000017005 3302485017 20160731 1 900000000000207008 715403006 en 900000000000550004 Neoplasm of the heart that manifests in adults, 75% of heart tumors are benign, with myxoma being the most common benign tumor. 900000000000017005 3302486016 20160731 1 900000000000207008 715403006 en 900000000000550004 Neoplasm of the heart that manifests in adults, 75% of heart tumours are benign, with myxoma being the most common benign tumour. 900000000000017005 3302490019 20160731 1 900000000000207008 715404000 en 900000000000550004 A rare syndrome comprising hypocalcified-hypoplastic tooth enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis. 900000000000017005 3302495012 20160731 1 900000000000207008 715406003 en 900000000000550004 A diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures. 900000000000017005 3302503012 20160731 1 900000000000207008 715409005 en 900000000000550004 A rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability. The etiology of C syndrome is still unknown. Although most of the reported patients are sporadic, rare cases of familial occurrence have been described. 900000000000017005 3302504018 20160731 1 900000000000207008 715409005 en 900000000000550004 A rare multiple congenital anomaly/intellectual disability syndrome characterised by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability. The aetiology of C syndrome is still unknown. Although most of the reported patients are sporadic, rare cases of familial occurrence have been described. 900000000000017005 3302514010 20160731 1 900000000000207008 715412008 en 900000000000550004 A malignant tumour of the prostate with an early onset. Is either asymptomatic or causes symptoms on micturition, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterised by familial antecedents. 900000000000017005 3302515011 20160731 1 900000000000207008 715412008 en 900000000000550004 A malignant tumor of the prostate with an early onset. Is either asymptomatic or causes symptoms on micturition, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents. 900000000000017005 3302519017 20160731 1 900000000000207008 715414009 en 900000000000550004 Defined by the presence of pancreatic cancer in two or more first-degree relatives. In familial cases, disease onset occurs before 50 years of age, earlier than for the other forms of pancreatic cancer. Prognosis is poor. 900000000000017005 3302522015 20160731 1 900000000000207008 715415005 en 900000000000550004 An extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria. 900000000000017005 3302523013 20160731 1 900000000000207008 715415005 en 900000000000550004 An extremely rare neurodegenerative disorder characterised by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria. 900000000000017005 3302533017 20160731 1 900000000000207008 715417002 en 900000000000550004 This is an X-linked recessive retinal degenerative disease that leads to degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye. Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain. 900000000000017005 3302538014 20160731 1 900000000000207008 715418007 en 900000000000550004 An autosomal recessive disorder that is the most severe, neonatally lethal form of arthrogryposis a disorder characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. 900000000000017005 3302539018 20160731 1 900000000000207008 715418007 en 900000000000550004 An autosomal recessive disorder that is the most severe, neonatally lethal form of arthrogryposis a disorder characterised by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. 900000000000017005 3302546010 20160731 1 900000000000207008 715419004 en 900000000000550004 Autosomal recessive disorder originally described in Finnish families. Diagnostic criteria are early fetal hydrops and akinesia, specific neuropathology with degeneration of anterior horn neurons, and extreme skeletal muscle atrophy. The Israeli-Bedouin pedigree is characterized by congenital contractures and additional unique phenotypic abnormalities, suggesting it represents a novel variant of autosomal recessive LCCS. Features distinguishing the novel disorder, LCCS2, from the Finnish type of LCCS included additional craniofacial/ocular findings, lack of hydrops, multiple pterygia, and fractures, as well as a normal duration of pregnancy. The major unique and previously undescribed clinical feature in the Israeli Bedouin disorder is markedly distended urinary bladder. 900000000000017005 3302547018 20160731 1 900000000000207008 715419004 en 900000000000550004 Autosomal recessive disorder originally described in Finnish families. Diagnostic criteria are early foetal hydrops and akinesia, specific neuropathology with degeneration of anterior horn neurons, and extreme skeletal muscle atrophy. The Israeli-Bedouin pedigree is characterised by congenital contractures and additional unique phenotypic abnormalities, suggesting it represents a novel variant of autosomal recessive LCCS. Features distinguishing the novel disorder, LCCS2, from the Finnish type of LCCS included additional craniofacial/ocular findings, lack of hydrops, multiple pterygia, and fractures, as well as a normal duration of pregnancy. The major unique and previously undescribed clinical feature in the Israeli Bedouin disorder is markedly distended urinary bladder. 900000000000017005 3302555013 20160731 1 900000000000207008 715420005 en 900000000000550004 Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs. 900000000000017005 3302561011 20160731 1 900000000000207008 715421009 en 900000000000550004 An X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). 900000000000017005 3302562016 20160731 1 900000000000207008 715421009 en 900000000000550004 An X-linked malformation syndrome characterised by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). 900000000000017005 3302565019 20160731 1 900000000000207008 715422002 en 900000000000550004 Characterized by frontal encephalocele, craniosynostosis, and developmental delay. 900000000000017005 3302566018 20160731 1 900000000000207008 715422002 en 900000000000550004 Characterised by frontal encephalocoele, craniosynostosis, and developmental delay. 900000000000017005 3302573011 20160731 1 900000000000207008 312929003 en 900000000000550004 Acute zonal occult outer retinopathy (AZOOR) is typified by acute loss of 1 or more zones of outer retinal function associated with photopsia, minimal funduscopic changes, and abnormal ERG findings 900000000000017005 3302580013 20160731 1 900000000000207008 715426004 en 900000000000550004 An exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission. 900000000000017005 3302581012 20160731 1 900000000000207008 715426004 en 900000000000550004 An exceedingly rare, benign, congenital, corneal tumour characterised by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission. 900000000000017005 3302581012 20210930 0 900000000000207008 715426004 en 900000000000550004 An exceedingly rare, benign, congenital, corneal tumour characterised by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission. 900000000000017005 3302585015 20160731 1 900000000000207008 715427008 en 900000000000550004 A rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nail malformations as well as intellectual disability. 900000000000017005 3302585015 20210131 0 900000000000207008 715427008 en 900000000000550004 A rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nail malformations as well as intellectual disability. 900000000000017005 3302586019 20160731 1 900000000000207008 715427008 en 900000000000550004 A rare variant of frontonasal dysplasia characterised by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nail malformations as well as intellectual disability. 900000000000017005 3302586019 20210131 0 900000000000207008 715427008 en 900000000000550004 A rare variant of frontonasal dysplasia characterised by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nail malformations as well as intellectual disability. 900000000000017005 3302590017 20160731 1 900000000000207008 715428003 en 900000000000550004 Moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait. 900000000000017005 3302594014 20160731 1 900000000000207008 715429006 en 900000000000550004 This syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. Transmission appears to be autosomal recessive. 900000000000017005 3302595010 20160731 1 900000000000207008 715429006 en 900000000000550004 This syndrome is characterised by congenital muscular dystrophy, infantile cataract and hypogonadism. Transmission appears to be autosomal recessive. 900000000000017005 3302600018 20160731 1 900000000000207008 715430001 en 900000000000550004 A group of symptoms which may be observed in the fetus or newborn when the mother has taken indomethacin, a nonsteroidal anti-inflammatory drug during pregnancy. The drug crosses the human placenta readily throughout gestation, but its effects on the embryo/fetus vary according to the stage of pregnancy. 900000000000017005 3302601019 20160731 1 900000000000207008 715625007 en 900000000000550004 Variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Additional features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum). Prevalence is unknown, may be caused by a variety of genetic defects. 900000000000017005 3302604010 20160731 1 900000000000207008 715431002 en 900000000000550004 A teratogenic disorder associated with intrauterine exposure to phenobarbital during the first trimester of pregnancy. Infants are usually asymptomatic but at an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism. 900000000000017005 3302627019 20160731 1 900000000000207008 715437003 en 900000000000550004 A very rare multisystem neurodegenerative disorder characterised by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss. Infantile, juvenile, and adult-onset cases have been described. As any part of the nervous system can be affected (central, peripheral, and autonomic nervous systems), the clinical manifestations depend on the sites involved, and widely vary. The most common neurological signs include ataxia, extra-pyramidal signs (tremor and oculogyral crises), lower motor neuron findings (absent deep tendon reflexes, weakness, muscle wasting, foot deformities), and less apparent behavioural or cognitive difficulties. Most cases are sporadic. 900000000000017005 3302638019 20160731 1 900000000000207008 715439000 en 900000000000550004 A rare form of genetic lipodystrophy with loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance. Inherited in an autosomal dominant manner. 900000000000017005 3302643014 20160731 1 900000000000207008 715440003 en 900000000000550004 Complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). 900000000000017005 3302646018 20160731 1 900000000000207008 715441004 en 900000000000550004 Belongs to the group of multiple congenital anomalies/mental retardation syndromes with intellectual deficit, distinctive facies (upward slanting palpebral fissures, squint), kyphoscoliosis, diastasis recti, cryptorchidism, and a congenital heart defect. Autosomal recessive inheritance suggested. 900000000000017005 3302710016 20160731 1 900000000000207008 715462003 en 900000000000550004 A very rare disorder, features include microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. 900000000000017005 3302715014 20160731 1 900000000000207008 715463008 en 900000000000550004 The most common subtype of pontocerebellar hypoplasia with features of neonatal onset, lack of voluntary motor development and later progressive microencephaly, general clonus, development of chorea and spasticity.The majority of patients will not reach puberty. Inherited in an autosomal recessive manner. 900000000000017005 3302720014 20160731 1 900000000000207008 715464002 en 900000000000550004 Extremely rare syndrome with features of microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. This syndrome is transmitted as an X-linked trait. 900000000000017005 3302726015 20160731 1 900000000000207008 715465001 en 900000000000550004 Extremely rare syndrome with features of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia. It has been described in an inbred Bedouin family. Immunological abnormalities were frequent. Transmission is autosomal recessive and the disease is monogenic. 900000000000017005 3302738012 20160731 1 900000000000207008 715470008 en 900000000000550004 A rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, with features of bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints. Manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short stature and brachydactyly has been reported in a few patients with the disorder. 900000000000017005 3302743017 20160731 1 900000000000207008 715471007 en 900000000000550004 This syndrome manifests with mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. Transmission is autosomal recessive. 900000000000017005 3302749018 20160731 1 900000000000207008 715472000 en 900000000000550004 Disproportionate short stature present from birth with dysplasia of the ulna and fibula. Curvatures of the forearm, radial head luxation, and tibial anomalies have also been described. The syndrome is transmitted in an autosomal dominant manner. 900000000000017005 3302760010 20160731 1 900000000000207008 715474004 en 900000000000550004 Severe reduction or absence of the fibula and complex brachydactyly. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene. 900000000000017005 3302777010 20160731 1 900000000000207008 715482004 en 900000000000550004 Growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. Transmission is autosomal recessive. 900000000000017005 3302783013 20160731 1 900000000000207008 715483009 en 900000000000550004 Infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases. 900000000000017005 3302788016 20160731 1 900000000000207008 715484003 en 900000000000550004 Complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. Micrognathia, shortening and bowing of the forearm, ulnar deviation and bowed radius, short fibula, genu valgum and coxa vara have been reported. Intelligence is normal. The causative gene has not yet been identified. Autosomal dominant inheritance has been suggested. 900000000000017005 3302797017 20160731 1 900000000000207008 715487005 en 900000000000550004 Rare disorder with features of severe resorption of the hands and feet and absence of the distal and middle phalanges. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait. 900000000000017005 3302808010 20160731 1 900000000000207008 715491000 en 900000000000550004 Progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. Autosomal recessive spastic paraplegia type 11 is a form of complicated spastic paraplegia with neurological features such as mental impairment and thin corpus callosum in addition to spasticity. 900000000000017005 3302854018 20160731 1 900000000000207008 715504003 en 900000000000550004 A chronic neurodegenerative disorder with features of spastic paraparesis (beginning at about 10 years of age) and hearing deficits. It has been described in affecting at least six male members spanning three generations of a large family. Some relatives presented with tremor, cataracts, sensory deficits, short stature, hypogonadism, elevated cerebrospinal fluid protein, and/or absent or prolonged somatosensory evoked potentials. 900000000000017005 3302861019 20160731 1 900000000000207008 715506001 en 900000000000550004 Rare syndrome with features of phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients from two unrelated families. 900000000000017005 3302908011 20160731 1 900000000000207008 715522000 en 900000000000550004 Skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. Only a few cases have been described. Patients have intercalary limb deficiencies (phocomelia sometimes combined with polydactyly, oligodactyly or ectrodactyly), absent or hypoplastic pelvic bones (including sacral agenesis or hypoplasia) and skull defects. Additional features may include thoracic dystrophy, unusual facies (dysplastic and large ears, and a high and narrow palate), and genital malformations.Growth and mental development are normal. 900000000000017005 3302911012 20160731 1 900000000000207008 715523005 en 900000000000550004 Rare syndrome with manifestations of mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus also reported. So far, it has been described in four unrelated infants, it is suggested that the syndrome is caused by defective expression of a developmental control gene. 900000000000017005 3302922011 20160731 1 900000000000207008 715526002 en 900000000000550004 A rare hemolytic anemia with manifestations of decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed. Transmission is autosomal dominant. 900000000000017005 3302923018 20160731 1 900000000000207008 715526002 en 900000000000550004 A rare haemolytic anaemia with manifestations of decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated haemolysis. Pseudohyperkalaemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed. Transmission is autosomal dominant. 900000000000017005 3302926014 20160731 1 900000000000207008 715527006 en 900000000000550004 Rare syndrome with manifestation of sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Transmission appears to be autosomal recessive. 900000000000017005 3302930012 20160731 1 900000000000207008 715528001 en 900000000000550004 Rare syndrome with manifestation of progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far reported in two families. Transmission is autosomal dominant. 900000000000017005 3302936018 20160731 1 900000000000207008 715529009 en 900000000000550004 A hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease). 900000000000017005 3302946016 20160731 1 900000000000207008 715531000 en 900000000000550004 A rare condition with features of congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. The expression of the phenotype is highly variable and ranges from bilateral aplasia of tibiae and split-hand/split-foot deformity (tetramonodactyly or transverse hemimelia) to the mildest visible manifestation, hypoplastic big toes. Additional malformations may include distal hypoplasia or bifurcation of femora, hypo or aplasia of ulnae, and minor anomalies such as aplasia of patellae, postaxial and intermediate polydactyly in association with split-hand deformity, and cup-shaped ears. The syndrome is generally inherited in an autosomal dominant manner with reduced penetrance. 900000000000017005 3302949011 20160731 1 900000000000207008 715532007 en 900000000000550004 An apparently familial disorder with features of anterior bowing of tibiae and fibulae and cortical hyperostosis on the concave side of the curvature. Associated anomalies may include short stature and in some cases mental retardation. 900000000000017005 3302955018 20160731 1 900000000000207008 715533002 en 900000000000550004 A congenital syndromic form of split-hand/foot malformation with features of microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP. 900000000000017005 3302960019 20160731 1 900000000000207008 715534008 en 900000000000550004 A rare neurological condition with manifestation of seizures during the first year of life and choreoathetotic dyskinetic attacks during childhood or adolescence. Benign familial infantile epilepsy begins at 3 to 12 months of age with a family history of the same type of seizures. Seizures are afebrile and normally disappear after the first year of life. During childhood or adolescence, affected individuals present with paroxysmal kinesigenic dyskinesia with frequent and recurrent episodic choreathetotic or dystonic movements that last less than 1 minute. Can present as sporadic or familial, in the latter case, it is transmitted as an autosomal dominant trait that can be variably expressed within the same family. 900000000000017005 3302966013 20160731 1 900000000000207008 715535009 en 900000000000550004 A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy and a cutaneous phenotype with manifestation of peculiar woolly hair and palmoplantar keratoderma. The disease was first described in families originating from the Greek island of Naxos. Woolly hair appears from birth, palmoplantar keratoderma develops during the first year of life and cardiomyopathy is clinically manifested by adolescence with 100% penetrance. Symptoms of right heart failure appear during the end stages of the disease. 900000000000017005 3303023014 20160731 1 900000000000207008 715559004 en 900000000000550004 An inherited bleeding disorder caused by the reduction in activity and antigen levels of both factor V and factor VIII with manifestation of mild-to-moderate bleeding symptoms. Caused by mutations either in the LMAN1 gene (chromosome 18; q21) or in the MCFD2 gene (chromosome 2). Transmission is autosomal recessive. 900000000000017005 3303026018 20160731 1 900000000000207008 715560009 en 900000000000550004 A rare rhythm disorder with sustained tachycardia in newborns and infants and an atrial rate often at around 440 beats/minute. May manifest as asymptomatic tachycardia, congestive heart failure or hydrops. 900000000000017005 3303029013 20160731 1 900000000000207008 715561008 en 900000000000550004 A familial predisposition for developing bilateral and multifocal type 1 papillary renal carcinoma. Transmitted as an autosomal dominant trait with reduced penetrance, the syndrome is associated with germline mutations in the MET proto-oncogene (7q31). 900000000000017005 3303048012 20160731 1 900000000000207008 715568002 en 900000000000550004 A bone dysplasia with manifestation of bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones. Autosomal dominant mode of transmission. 900000000000017005 3303062017 20160731 1 900000000000207008 715574002 en 900000000000550004 A rare progressive neurodegenerative disorder with typical onset between 50 and 65 years of age. Manifestation is of progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities. Prevalence is unknown, largely due to the lack of awareness of the syndrome and the inaccurate terminology referring to it. Alzheimer's disease is the most common underlying pathology, but cases attributable to Dementia with Lewy Bodies, corticobasal degeneration or prion disease have also been reported. 900000000000017005 3303066019 20160731 1 900000000000207008 715575001 en 900000000000550004 An inherited developmental defect syndrome with features of multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal. 900000000000017005 3303069014 20160731 1 900000000000207008 715576000 en 900000000000550004 A rare disorder with manifestation of hypo or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients are born with multiple teeth. Hair anomalies (sparse body and scalp hair) also reported. Inheritance is autosomal dominant. 900000000000017005 3303073012 20160731 1 900000000000207008 715577009 en 900000000000550004 The association of ABCB4 mutations and low biliary phospholipid concentration with symptomatic and recurring cholelithiasis. Patients present typically with the following main features: age less than 40 years at onset of symptoms, recurrence of biliary symptoms after cholecystectomy, intrahepatic hyperechoic foci or sludge or microlithiasis along the biliary tree. A defect in ABCB4 function causes the production of bile with low phospholipid content, increased lithogenicity and high detergent properties leading to bile duct luminal membrane injuries and resulting in cholestasis with increased serum gamma-glutamyltransferase (GGT) activity. 900000000000017005 3303205014 20160731 1 900000000000207008 715624006 en 900000000000550004 A rare chronic immune-mediated demyelinating polyneuropathy. The exact prevalence is unknown but less than 30 cases have been reported in the literature. The clinical picture comprises a chronic neuropathy with marked sensory ataxia and areflexia, and with relatively preserved motor function in the limbs. Motor weakness affecting the oculomotor and bulbar muscles is present as either a fixed or relapsing-remitting feature. 900000000000017005 3303216019 20160731 1 900000000000207008 715626008 en 900000000000550004 A restrictive cardiopathy with manifestation of endocardial fibrosis. This disorder occurs almost exclusively in tropical and subtropical regions. The prevalence is unknown but the disorder is extremely rare in Europe. The fibrosis may affect the right ventricle (leading to adiastole with tricuspid insufficiency) or the left ventricle (causing acute mitral insufficiency, and early and severe pulmonary hypertension). The fibrosis can also be bilateral. The cause is unknown. 900000000000017005 3303224012 20160731 1 900000000000207008 715628009 en 900000000000550004 Syndrome with the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34. 900000000000017005 3303228010 20160731 1 900000000000207008 715629001 en 900000000000550004 This syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Transmission is autosomal dominant. 900000000000017005 3303229019 20160731 1 900000000000207008 715629001 en 900000000000550004 This syndrome is characterized by the association of paroxysmal dyskinesia and generalized epilepsy (usually absence or generalized tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Transmission is autosomal dominant. 900000000000017005 3303235019 20160731 1 900000000000207008 715630006 en 900000000000550004 Patches of hyperpigmentation in the skin, which are present at birth or in early infancy and increase in size and number with age. A rare autosomal dominant disorder. 900000000000017005 3303239013 20160731 1 900000000000207008 715631005 en 900000000000550004 Chondrodysplasia punctata syndrome with stippled epiphyses, mild facial anomalies, short stature, and ocular colobomata. Congenital heart disease and central nervous system anomalies are also reported. 900000000000017005 3303242019 20160731 1 900000000000207008 715632003 en 900000000000550004 A type of Oculocutaneous albinism with varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm. Cutaneous hypopigmentation is often visible at birth and signs of nystagmus and strabismus present in the first year of life. Visual changes are not progressive. Caused by mutations in the membrane-associated transporter protein (MATP) gene, SLC45A2, encoding a transporter protein which is thought to mediate melanin synthesis. Inheritance is autosomal recessive. 900000000000017005 3303246016 20160731 1 900000000000207008 715633008 en 900000000000550004 Refers to a heterogeneous group of cases that are clinically diagnosed as Werner syndrome but that do not carry WRN gene mutations. Similar to classical Werner Syndrome caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population. Compared to Werner Syndrome, it has an earlier age of onset (early 20s or earlier) and a more rapid rate of progression. 900000000000017005 3303251010 20160731 1 900000000000207008 715634002 en 900000000000550004 A rare fibro-osseous lesion of the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Multiple dense lobulated bone lesions often symmetrical are located in various regions of the jaw and can be seen on radiological examination. 900000000000017005 3303277019 20160731 1 900000000000207008 715644000 en 900000000000550004 Hereditary vascular malformations featuring the presence of small, multifocal bluish-purple venous lesions involving the skin. May be present at birth, and slowly expand during childhood. New small lesions appear with time. Often painful on palpation and cannot be completely emptied by compression. They are usually multifocal and are located mainly on the extremities, involving the skin and subcutis. Caused by mutations in the gene encoding glomulin and inherited in an autosomal dominant manner. 900000000000017005 3303286012 20160731 1 900000000000207008 715647007 en 900000000000550004 Caused by mutation in the gene encoding retinaldehyde-binding protein-1. A high frequency of a distinctive form of retinal dystrophy was found to occur in northern Sweden. Typical manifestations are night blindness from early childhood and in young adults retinitis punctata albescens was observed followed by macular degeneration. 900000000000017005 3303296015 20160731 1 900000000000207008 715649005 en 900000000000550004 Skin of eyelid fold arises in the lower eyelid tarsal region and extends up through the medial canthus towards the brow. 900000000000017005 3303298019 20160731 1 900000000000207008 715651009 en 900000000000550004 Skin of eyelid fold arises in the region of the upper tarsal plate and extends to the medial canthus. 900000000000017005 3303302010 20160731 1 900000000000207008 715652002 en 900000000000550004 Severely hypoplastic and triangular-shaped tibiae and absence of the fibulae.Two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia also reported. 900000000000017005 3303310011 20160731 1 900000000000207008 715654001 en 900000000000550004 Very rare poorly-defined bone disease with manifestation of ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism. 900000000000017005 3303316017 20160731 1 900000000000207008 715655000 en 900000000000550004 Hereditary transthyretin related systemic amyloidosis with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein. Prevalence is unknown, patients present during adulthood with restrictive cardiomyopathy. Over 80 pathogenetic mutations in the TTR gene (18q12.1) have been reported so far. Transmitted as an autosomal dominant trait. 900000000000017005 3303320018 20160731 1 900000000000207008 715656004 en 900000000000550004 A rare autosomal dominant disorder with features of aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying manifestations from infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation. 900000000000017005 3303323016 20160731 1 900000000000207008 715657008 en 900000000000550004 A severely disabling disease with manifestation of progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty. Familial forms appear to be very rare, with only three families identified so far. Age of onset in these familial cases ranges from 15-48. Transmission in familial cases is autosomal dominant and mutations in the type II collagen gene (COL2A1) have been detected in affected family members. 900000000000017005 3303339011 20160731 1 900000000000207008 715437003 en 900000000000550004 A very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss. Infantile, juvenile, and adult-onset cases have been described. As any part of the nervous system can be affected (central, peripheral, and autonomic nervous systems), the clinical manifestations depend on the sites involved, and widely vary. The most common neurological signs include ataxia, extra-pyramidal signs (tremor and oculogyral crises), lower motor neuron findings (absent deep tendon reflexes, weakness, muscle wasting, foot deformities), and less apparent behavioral or cognitive difficulties. Most cases are sporadic. 900000000000017005 3303346019 20160731 1 900000000000207008 715665006 en 900000000000550004 An autosomal dominant form of hereditary motor and sensory neuropathy with dominant proximal involvement. Manifestations include adult-onset proximal neurogenic atrophy, sensory involvement, painful muscle cramps, fasciculations, areflexia, and high incidences of elevated creatine kinase levels, hyperlipidemia, and diabetes mellitus. 900000000000017005 3303347011 20160731 1 900000000000207008 715665006 en 900000000000550004 An autosomal dominant form of hereditary motor and sensory neuropathy with dominant proximal involvement. Manifestations include adult-onset proximal neurogenic atrophy, sensory involvement, painful muscle cramps, fasciculations, areflexia, and high incidences of elevated creatine kinase levels, hyperlipidaemia, and diabetes mellitus. 900000000000017005 3303355016 20160731 1 900000000000207008 715667003 en 900000000000550004 An acquired form of intestinal lymphangiectasia manifesting as a protein-losing enteropathy. May be due to another disorder such as Crohn’s disease, congestive heart failure, sarcoidosis, Turner syndrome or in patients who have undergone a Fontan operation. 900000000000017005 3303358019 20160731 1 900000000000207008 715668008 en 900000000000550004 Pituitary deficiency due to a disorder that involves the sella turcica, a bony structure at the base of the brain that surrounds and protects the pituitary gland. 900000000000017005 3303359010 20160731 1 900000000000207008 715669000 en 900000000000550004 A congenital enteropathy presenting with early-onset severe intractable diarrhea sometimes causing irreversible intestinal failure. Infants develop a watery diarrhea within the first days after birth and the diarrhea persists in spite of bowel rest and parenteral nutrition. Some infants are reported to have associated choanal, rectal or esophageal atresia. Autosomal recessive transmission but the causative gene has not been yet identified. 900000000000017005 3303360017 20160731 1 900000000000207008 715669000 en 900000000000550004 A congenital enteropathy presenting with early-onset severe intractable diarrhoea sometimes causing irreversible intestinal failure. Infants develop a watery diarrhoea within the first days after birth and the diarrhoea persists in spite of bowel rest and parenteral nutrition. Some infants are reported to have associated choanal, rectal or oesophageal atresia. Autosomal recessive transmission but the causative gene has not been yet identified. 900000000000017005 3303371016 20160731 1 900000000000207008 715671000 en 900000000000550004 An autosomal recessive form of brachyolmia a group of rare genetic skeletal disorders, with features of short stature, short trunk, platyspondyly and corneal opacities. 900000000000017005 3303375013 20160731 1 900000000000207008 715672007 en 900000000000550004 A multiple epiphyseal dysplasia with a late-childhood onset manifesting as joint pain involving hips, knees, wrists and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees, scoliosis and slightly reduced adult height. Follows an autosomal recessive mode of transmission 900000000000017005 3303379019 20160731 1 900000000000207008 715673002 en 900000000000550004 A form of multiple epiphyseal dysplasia manifesting as normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early onset osteoarthrosis. Specific features include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. The disease follows an autosomal dominant mode of transmission. 900000000000017005 3303383019 20160731 1 900000000000207008 715674008 en 900000000000550004 A type of multiple epiphyseal dysplasia manifesting with early onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Specific features include normal stature and lesser incidence of gait abnormalities. Follows an autosomal dominant mode of transmission. 900000000000017005 3303483018 20160731 1 900000000000207008 715707008 en 900000000000550004 In postaxial polydactyly type B the extra digit is rudimentary and poorly developed. 900000000000017005 3303484012 20160731 1 900000000000207008 715704001 en 900000000000550004 In postaxial polydactyly type A the extra digit is well formed and articulates with the fifth or an extra metacarpal. 900000000000017005 3303489019 20160731 1 900000000000207008 715710001 en 900000000000550004 Features the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane. Also associated with systemic syndromes including Holt-Oram syndrome. 900000000000017005 3303510012 20160731 1 900000000000207008 715720006 en 900000000000550004 A congenital malformation with apparent shortness (or absence) of the middle phalanges of all digits and occasional fusion with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. Tendency to be of short stature in adulthood. Inherited as an autosomal dominant trait. 900000000000017005 3303514015 20160731 1 900000000000207008 715721005 en 900000000000550004 A very rare congenital malformation with brachymesophalangy affecting mainly the second and the fifth digit. When the fourth digit is affected, it results in an abnormally shaped middle phalanx, leading to radial deviation of the distal phalanx. Absence of the middle phalanges of the lateral four toes has been reported. Autosomal dominant inheritance is suggested. 900000000000017005 3303518017 20160731 1 900000000000207008 715722003 en 900000000000550004 Manifestations of brachymesophalangy with mesomelic short limbs and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. Transmission appears to be autosomal dominant. 900000000000017005 3303521015 20160731 1 900000000000207008 715723008 en 900000000000550004 A distal limb malformation with manifestation of complete or partial webbing between the third and fourth fingers and/or the second and third toes. Other digits may be involved occasionally. The phenotype varies widely within and between families, sometimes only the hands are affected and sometimes only the feet. Webbing between fingers may be associated with bony fusion of the distal phalanges. Inherited as an autosomal dominant trait. 900000000000017005 3303525012 20160731 1 900000000000207008 715724002 en 900000000000550004 A rare congenital distal limb malformation with the combination of syndactyly and polydactyly. In most cases affects the third and fourth fingers and the fourth and fifth toes bilaterally. Additional features include fifth finger clinodactyly, camptodactyly and/or brachydactyly. Inherited in an autosomal dominant manner. 900000000000017005 3303529018 20160731 1 900000000000207008 715725001 en 900000000000550004 A rare congenital distal limb malformation with complete and bilateral syndactyly between the fourth and fifth fingers. In most cases, it is a soft tissue syndactyly, but occasionally the distal phalanges may be fused. The feet are not affected. Inherited in an autosomal dominant manner. 900000000000017005 3303534019 20160731 1 900000000000207008 715726000 en 900000000000550004 A neurodegenerative disorder with progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. Manifestations that present in infancy and early childhood include muscle weakness, wasting, hypotonia, poor feeding, failure to thrive and loss of motor milestones. Inherited autosomal dominantly. The prognosis depends on the age of symptom onset. An earlier onset is associated with a more severe and rapidly progressive disease. 900000000000017005 3303538016 20160731 1 900000000000207008 715727009 en 900000000000550004 A congenital abnormality of the pituitary that is responsible for pituitary deficiency with usual manifestation of a triad of very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary and hypoplasia or aplasia of the anterior pituitary. In the majority of cases no genetic cause is found, however, the presence of familial forms and the association with microphallus and congenital abnormalities, particularly of the eyes, suggest an antenatal origin. 900000000000017005 3303554018 20160731 1 900000000000207008 715733000 en 900000000000550004 A unique form of congenital adrenal hyperplasia characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations. Prenatal androgen excess is responsible for severe virilization of external genitalia in girls and undervirilization in boys manifesting as a micropenis to severe perineoscrotal hypospadias. Craniofacial malformations observed include large domed forehead, flat nose, midface hypoplasia with proptosis and dysplastic ears. The disease follows an autosomal recessive pattern of inheritance. 900000000000017005 3303555017 20160731 1 900000000000207008 715733000 en 900000000000550004 A unique form of congenital adrenal hyperplasia characterised by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations. Prenatal androgen excess is responsible for severe virilisation of external genitalia in girls and undervirilisation in boys manifesting as a micropenis to severe perineoscrotal hypospadias. Craniofacial malformations observed include large domed forehead, flat nose, midface hypoplasia with proptosis and dysplastic ears. The disease follows an autosomal recessive pattern of inheritance. 900000000000017005 3303560018 20160731 1 900000000000207008 715734006 en 900000000000550004 An absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth. In symptomatic cases, clinical features and signs may include decreased activity and increased sleep, feeding difficulty, constipation and prolonged jaundice. Slow linear growth and developmental delay may also occur. Some familial cases have been reported suggesting genetic factors but to date none have been identified in humans. 900000000000017005 3303564010 20160731 1 900000000000207008 715735007 en 900000000000550004 A very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy. 900000000000017005 3303568013 20160731 1 900000000000207008 715736008 en 900000000000550004 A very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained through sporadic pseudohypoparathyroidism type 1b and have paternal UPD20 involving variable segments of the long arm of chromosome 20. 900000000000017005 3303572012 20160731 1 900000000000207008 715737004 en 900000000000550004 Main features described as symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction. Prevalence is unknown, but a higher number of cases have been described in the French West Indies. This form of atypical parkinsonism may be related to exposure to tropical plants containing mitochondrial complex I inhibitors. Guadelupian parkinsonism may actually be a tauopathy identical or closely related to progressive supranuclear palsy. Most patients are L-dopa unresponsive. 900000000000017005 3303597011 20160731 1 900000000000207008 715748006 en 900000000000550004 Main features described as dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. The disease typically presents in the fourth decade. Ataxia gradually progresses and additional features may emerge including proprioceptive loss, hypoactive reflexes, ophthalmoparesis, and mild optic neuropathy. Initial presentation with blepharospasm, oromandibular dystonia, and retrocollis preceding ataxia has been reported. Caused by CAG repeat expansions in the ATXN1 gene region on chromosome 6p23. 900000000000017005 3303606018 20160731 1 900000000000207008 715751004 en 900000000000550004 Main features described as truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. Presents in the third or fourth decade, Parkinsonism is also a less common but well-documented manifestation. There is no distinct clinical feature that reliably distinguishes type 1 from type 2 although tremor and autonomic dysfunction are more common in type 2. 900000000000017005 3303609013 20160731 1 900000000000207008 715752006 en 900000000000550004 Main features described as late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus. The mean age of onset is 45 years but can range from the ages of 16 to 72 years. It usually presents with the cerebellar signs of ataxia and dysarthria as well as dysphagia. Some patients also have episodic vertigo and diplopia. Parkinsonism, dystonia, myoclonus, tremor and cognitive impairment have been reported in rare cases. 900000000000017005 3303612011 20160731 1 900000000000207008 715753001 en 900000000000550004 Main features described as cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients. Other features include dysexecutive disorders and commonly psychiatric disorders. 900000000000017005 3303615013 20160731 1 900000000000207008 715754007 en 900000000000550004 Main features described as slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances. Prevalence is unknown. Many kindreds have been found in Mexican and Brazilian populations. Age of onset ranges from 18 to 45 years. Caused by an ATTCT pentanucleotide repeat expansion in intron 9 of the ATXN10 gene (22q13). Exact pathogenesis has not been determined but RNA processing may be involved. 900000000000017005 3303618010 20160731 1 900000000000207008 715755008 en 900000000000550004 A very rare progressive and untreatable disease with manifestations of ataxia with sensory neuropathy. Prevalence is unknown, typically starts in middle-aged adults and presents with cerebellar ataxia, pyramidal signs, and peripheral sensory loss. The disease has been linked to chromosome 16q22.1 in kindreds from Utah (USA) and Germany but the mutation is yet unknown and does not appear to involve trinucleotide repeats. 900000000000017005 3303621012 20160731 1 900000000000207008 715756009 en 900000000000550004 Training for adjustments to lifestyle resulting from illness or disability. 900000000000017005 3303656011 20160731 1 900000000000207008 715768000 en 900000000000550004 A rare neurometabolic disorder with main features described as childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa and that may be associated with parkinsonism at an older age. Inherited in an autosomal dominant manner, but due to gender-based incomplete penetrance, not everyone with a mutation will display the disease phenotype. 900000000000017005 3303664017 20160731 1 900000000000207008 715770009 en 900000000000550004 A pure motor axonal form of Guillain-Barré syndrome that presents with rapid onset of muscle weakness and absent reflexes. The clinical course tends to be more severe than in the more frequent, demyelinating form of Guillain-Barré syndrome. In the majority of cases, this disease occurs following Campylobacter jejuni infection, in particular following infection with strains of C jejuni that cause enteritis. 900000000000017005 3303669010 20160731 1 900000000000207008 715771008 en 900000000000550004 A developmental disorder of the eye with manifestation of unilateral or bilateral microphthalmia associated with ocular coloboma. 900000000000017005 3303680010 20160731 1 900000000000207008 715776003 en 900000000000550004 A form of hereditary spastic paraplegia with onset usually in adulthood of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia. 900000000000017005 3303684018 20160731 1 900000000000207008 715777007 en 900000000000550004 Segmental dystonia that manifests with involuntary posturing affecting predominantly the feet. The exact prevalence is unknown. The disease is reported in a limited number of Jewish and Gypsy families. The onset of the symptoms is early in childhood or adolescence. 900000000000017005 3303692010 20160731 1 900000000000207008 715780008 en 900000000000550004 A semi-dominant X-linked disease with intellectual deficiency and seizures that is more severe in male patients. Boys presenting with lissencephaly show an abnormally thick cortex with very few gyri (pachygyria) or even none (agyria). Clinical manifestations include swallowing and feeding difficulties, abnormal muscular tone, seizures and severe to profound psychomotor retardation. Female patients display a less severe malformation referred to as ''doublecortex'' or subcortical laminar heterotopia and present with clinical signs of variable severity ranging from mild epilepsy to refractory epileptic seizures and severe intellectual deficiency. The condition is caused by doublecortin (DCX, located at Xq22.3-q23) gene mutations. 900000000000017005 3303692010 20210930 0 900000000000207008 715780008 en 900000000000550004 A semi-dominant X-linked disease with intellectual deficiency and seizures that is more severe in male patients. Boys presenting with lissencephaly show an abnormally thick cortex with very few gyri (pachygyria) or even none (agyria). Clinical manifestations include swallowing and feeding difficulties, abnormal muscular tone, seizures and severe to profound psychomotor retardation. Female patients display a less severe malformation referred to as ''doublecortex'' or subcortical laminar heterotopia and present with clinical signs of variable severity ranging from mild epilepsy to refractory epileptic seizures and severe intellectual deficiency. The condition is caused by doublecortin (DCX, located at Xq22.3-q23) gene mutations. 900000000000017005 3303706011 20160731 1 900000000000207008 715787006 en 900000000000550004 Surgical dissection to remove levels VI and VII cervical lymph nodes of neck. 900000000000017005 3303713011 20160731 1 900000000000207008 715788001 en 900000000000550004 A form of potassium-aggravated myotonia which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion. Fluctuating myotonia develops during childhood or adolescence and involves the extraocular, bulbar and limb muscles. Myotonia fluctuans is a sodium muscle channelopathy due to missense mutations of the SCN4A gene encoding the alpha subunit of the skeletal muscle voltage-gated sodium channel Nav1.4. Transmission is autosomal dominant. 900000000000017005 3303717012 20160731 1 900000000000207008 715789009 en 900000000000550004 A very rare, persistent and more severe form of potassium-aggravated myotonia. Begins during childhood (usually before 10 years of age) and involves mainly the face, neck, limbs, and thoracic muscles. It can be aggravated by exercise or potassium ingestion and less often by cold. Myotonia permanens is a muscle sodium channelopathy due to missense mutations of the SCN4A gene encoding the alpha subunit of the skeletal muscle voltage-gated sodium channel Nav1.4. Transmission is autosomal dominant. 900000000000017005 3303736019 20160731 1 900000000000207008 715794009 en 900000000000550004 RAVINE syndrome is an extremely rare genetic neurological disorder reported in a small number of patients in a specific community on Reunion Island (France) with manifestation of infantile anorexia, irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of posterior fossa along with supra-tentorial periventricular white-matter hyperintensities and basal ganglion anomalies. 900000000000017005 3303740011 20160731 1 900000000000207008 715795005 en 900000000000550004 Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases. Type 4 is less common and often limited to certain ethnic groups. Patients present with the typical CMT phenotype along with typical features of progressive, distally accentuated weakness and atrophy of muscles innervated by the peroneal nerve in the lower limbs, followed by weakness and atrophy of hands, sensory loss, and characteristic foot abnormalities. 900000000000017005 3303746017 20160731 1 900000000000207008 715797002 en 900000000000550004 Charcot-Marie-Tooth disease, type 4C (CMT4C) is a demyelinating CMT peripheral sensorimotor polyneuropathy with early-onset scoliosis or kyphoscoliosis. CMT4C is a relatively frequent form of CMT4: it was first described in Algeria but families have since been reported from Morocco, Mediterranean countries and from Germany, the Netherlands and France. Scoliosis may be the inaugural feature of the disease, with onset usually occurring in childhood. CMT4C is caused by mutations in the SH3TC2 gene (5q32). Transmitted in an autosomal recessive manner. 900000000000017005 3303747014 20160731 1 900000000000207008 715796006 en 900000000000550004 Charcot-Marie-Tooth disease type 4A (CMT4A) is a severe, early-onset form of demyelinating Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy with manifestation of severe motor retardation and progressive scoliosis. Considered the most frequent of all autosomal recessive forms of CMT. Onset usually occurs in infancy with distal muscle weakness and foot atrophy followed by proximal involvement and then distal weakness in the upper extremities and atrophy of the hands. Vocal cord paresis may also occur. CMT4A is caused by mutations in the GDAP1 gene (8q13.3), encoding a protein required for mitochondrial fission. Transmitted in an autosomal recessive manner. 900000000000017005 3303750012 20160731 1 900000000000207008 715798007 en 900000000000550004 Charcot-Marie-Tooth disease type 4D (CMT4D) is a severe form of Charcot-Marie-Tooth disease type 4, a demyelinating hereditary motor and sensory neuropathy. Main features described as gait disorder manifesting in the first decade of life, followed by upper limb involvement observed in the second decade and sensorineural deafness usually manifesting in the second or third decade of life. CMT4D was first reported in the Bulgarian Romani community of Lom and to date, has mainly been associated with the Roma population. CMT4D is caused by a single ancestral mutation (p.R148X) in the NDRG1 gene (8q24) coding for the NDRG1 protein that has a role in the peripheral nervous system, possibly in Schwann cell signaling necessary for axonal survival. Transmission is autosomal recessive. 900000000000017005 3303754015 20160731 1 900000000000207008 715799004 en 900000000000550004 Charcot-Marie-Tooth disease, type 4G (CMT4G) is a demyelinating CMT peripheral sensorimotor polyneuropathy. Onset occurs between 8 and 16 years of age with distal lower limb weakness, followed by distal upper limb involvement with a more variable age of onset of between 10 and 43 years. Sensory loss is also a prominent feature. The disease-causing gene has not yet been identified but linkage analysis and recombination mapping have led to identification of a small interval on 10q23.2. Transmitted in an autosomal recessive manner. 900000000000017005 3303757010 20160731 1 900000000000207008 715800000 en 900000000000550004 Charcot-Marie-Tooth disease, type 4B2 (CMT4B2) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy. Clinically and pathologically very similar to Charcot-Marie-Tooth type 4B1 with childhood-onset of muscle weakness, sensory loss, reduced nerve conduction velocities, characteristic myelin outfoldings and a severe disease course. However, in addition to the severe neuropathy, patients from some CMT4B2 families also develop early-onset glaucoma. Caused by mutations in the MTMR13/SBF2 gene encoding a protein involved in polyphosphoinositide signaling. Transmitted in an autosomal recessive manner. 900000000000017005 3303760015 20160731 1 900000000000207008 715801001 en 900000000000550004 Charcot-Marie-Tooth disease, type 4F (CMT4F) is a demyelinating CMT peripheral sensorimotor polyneuropathy. It is a rare form of CMT4 but the few reported families are from diverse ethnic groups: Lebanese Shiite Muslims, Hispanic North Americans, Northern Europeans and a Vietnamese family. Onset generally occurs in childhood but severity varies. Early onset with delayed motor milestones, and proximal and distal muscle weakness has been reported but a family in which the clinical picture was marked initially by sensory neuropathy has also been described. CMT4 is caused by mutations in the PRX gene (19q13.2). Transmitted in an autosomal recessive manner. 900000000000017005 3303763018 20160731 1 900000000000207008 715802008 en 900000000000550004 Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy. It has been described in 10 individuals from two large consanguineous families from Lebanon and Algeria. Onset occurs within the first two years of life with slowly progressive muscle weakness in the distal extremities. Other common features include delayed walking, an abnormal gait, scoliosis and pes equines with toe retraction. CMT4H is caused by mutations in the FGD4 gene (12p11.1). Transmitted in an autosomal recessive manner. 900000000000017005 3303766014 20160731 1 900000000000207008 715803003 en 900000000000550004 Charcot-Marie-Tooth disease, type 4B1 (CMT4B1) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy. It was initially described in an Italian family and around 10 additional families have been described so far. Onset occurs during early childhood with distal and proximal muscular weakness starting in the lower extremities, sensory loss and cranial nerve involvement. Foot deformities are frequent and diaphragmatic and facial involvement has been reported. CMT4B1 is caused by mutations in the gene encoding myotubularin-related protein 2 (MTMR2; 11q22), involved in polyphosphoinositide signaling. Transmitted in an autosomal recessive manner. 900000000000017005 3303767017 20160731 1 900000000000207008 715793003 en 900000000000550004 A form of potassium-aggravated myotonia which shows dramatic improvement with the use of acetazolamide. Symptoms generally manifest during childhood (before 10 years old), with myotonia of the facial, limbs and/or intercostal muscles that is triggered by potassium ingestion, fasting and mildly by cold exposure and exercise. Muscle stiffness is generally painful. Acetazolamide-responsive myotonia is a sodium muscle channelopathy due to missense mutations of the SCN4A gene, encoding the alpha subunit of the skeletal muscle voltage-gated sodium channel Nav1.4. Transmission is autosomal dominant. 900000000000017005 3303811019 20160731 1 900000000000207008 715819005 en 900000000000550004 A form of lissencephaly with cerebellar hypoplasia with main features of subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic feature on imaging. 900000000000017005 3303815011 20160731 1 900000000000207008 715820004 en 900000000000550004 A severe form of lissencephaly with cerebellar hypoplasia with main features of severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death. 900000000000017005 3303819017 20160731 1 900000000000207008 715821000 en 900000000000550004 A form of lissencephaly with cerebellar hypoplasia with main features of pronounced microcephaly, intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres. 900000000000017005 3303823013 20160731 1 900000000000207008 715822007 en 900000000000550004 A severe form of lissencephaly with cerebellar hypoplasia with main features microcephaly of at least 3 standard deviations and a thick cortex associated with complete absence of the corpus callosum. 900000000000017005 3303831015 20160731 1 900000000000207008 715824008 en 900000000000550004 Spinocerebellar ataxia type 28 (SCA28) is very rare with main features of juvenile onset and slowly progressive cerebellar ataxia due to Purkinje cell degeneration. The mean age of symptom onset was 19.5 years in the original kindred. Some patients show cognitive impairment. In more advanced stages of the disorder, ophthalmoparesis, slowed saccades, ptosis and pyramidal signs are reported. SCA28 is caused by mutations in the AFG3L2 gene located to chromosome 18p11.21. Inherited autosomal dominantly. 900000000000017005 3303835012 20160731 1 900000000000207008 715825009 en 900000000000550004 Spinocerebellar ataxia type 29 (SCA29) is a rare disease with main features of very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability. SCA29 presents at birth, or shortly, after with manifestations of very slowly progressive or non-progressive gait and limb ataxia causing delayed walking and frequent falling in children. Mild developmental delay, learning difficulties, and language dysfunction are frequently reported. Other manifestations include nystagmus, dysarthria, dysmetria, and dysdiadochokinesia. SCA29 is due to mutations in the ITPR1 gene (3p26.1), which is equally the causal gene of SCA15. Inherited autosomal dominantly. 900000000000017005 3303838014 20160731 1 900000000000207008 715826005 en 900000000000550004 Spinocerebellar ataxia type 31 (SCA31) is a very rare disease with manifestation of late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties. The mean age of disease onset is 58 years but it can present between the ages of 8 to 83 years. SCA31 is due to non-coding pentanucleotide repeat expansions in the brain expressed, associated with NEDD4, 1 (BEAN1) gene (16q21). Inherited autosomal dominantly with incomplete penetrance. 900000000000017005 3303843019 20160731 1 900000000000207008 715827001 en 900000000000550004 Autosomal recessive dopa responsive dystonia (DYT5b) is a very rare neurometabolic disorder with a spectrum of symptoms ranging from those seen in dopa responsive dystonia to progressive infantile encephalopathy. Disease presents in infancy (most frequently in the first year of life) with a progressive hypokinetic rigid syndrome, involuntary jerky movements, postural tremor, or gait disturbances that may fluctuate during the day and show good or excellent responsiveness to levodopa in most cases. DYT5b is caused by mutations in the tyrosine hydroxylase TH gene (11p15.5). Inherited in an autosomal recessive manner. 900000000000017005 3303847018 20160731 1 900000000000207008 715828006 en 900000000000550004 A rare congenital facial abnormality with manifestation of failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye. The disorder is therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. Also associated with other craniofacial abnormalities such as orbital anomalies and cleft lip/palate. 900000000000017005 3303850015 20160731 1 900000000000207008 715829003 en 900000000000550004 A very rare circadian rhythm sleep disorder with main features of very early sleep onset and offset possibly resulting in emotional and physical disruptions. 900000000000017005 3303892013 20160731 1 900000000000207008 715842003 en 900000000000550004 Attachment loss of greater than 2 millimeters between the gingival epithelium and the cementoenamel junction in the absence of infection or inflammation. 900000000000017005 3303893015 20160731 1 900000000000207008 715842003 en 900000000000550004 Attachment loss of greater than 2 millimetres between the gingival epithelium and the cementoenamel junction in the absence of infection or inflammation. 900000000000017005 3303899016 20160731 1 900000000000207008 715843008 en 900000000000550004 Acute separation of the periodontal tissue from the root by 1-2 millimeters of clinical attachment loss in less than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 3303900014 20160731 1 900000000000207008 715843008 en 900000000000550004 Acute separation of the periodontal tissue from the root by 1-2 millimetres of clinical attachment loss in less than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 3303949019 20160731 1 900000000000207008 715859008 en 900000000000550004 Acute separation of the periodontal tissue from the root by 3-4 millimeters of clinical attachment loss in less than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 3303950019 20160731 1 900000000000207008 715859008 en 900000000000550004 Acute separation of the periodontal tissue from the root by 3-4 millimetres of clinical attachment loss in less than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 3303956013 20160731 1 900000000000207008 715860003 en 900000000000550004 Acute separation of the periodontal tissue from the root by 5 millimeters or more of clinical attachment loss in less than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 3303957016 20160731 1 900000000000207008 715860003 en 900000000000550004 Acute separation of the periodontal tissue from the root by 5 millimetres or more of clinical attachment loss in less than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 3303961010 20160731 1 900000000000207008 715861004 en 900000000000550004 A mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis. Clinical manifestations may include a waddling gait, genu valgum, hip pain and restricted movement, although these manifestations are usually transient and the majority of patients are asymptomatic. 900000000000017005 3303962015 20160731 1 900000000000207008 715861004 en 900000000000550004 A mild localised form of skeletal dysplasia characterised by delayed, irregular ossification of femoral capital epiphysis. Clinical manifestations may include a waddling gait, genu valgum, hip pain and restricted movement, although these manifestations are usually transient and the majority of patients are asymptomatic. 900000000000017005 3303965018 20160731 1 900000000000207008 715862006 en 900000000000550004 A rare spondyloepimetaphyseal dysplasia with the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features and normal intelligence. 900000000000017005 3303971012 20160731 1 900000000000207008 715863001 en 900000000000550004 A rare form of idiopathic inflammatory myopathy with clinical manifestation of acute or subacute proximal muscle weakness and histopathological features of myocyte necrosis and regeneration without significant inflammation. The main presenting feature is subacute severe symmetrical proximal myopathy with a markedly elevated creatine kinase level. The course is often severe but may be self-limiting and recovery may occur within weeks to months of discontinuing the causative agent, if identified. The disease is thought to be related to an immune response possibly triggered by drug therapy, connective tissue diseases, or cancer. The exact mechanism underling the disorder is not known but some autoantibodies appear to be a likely cause. Malignancy may be involved. 900000000000017005 3303976019 20160731 1 900000000000207008 715864007 en 900000000000550004 A rare copper-overload liver disease with rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency. Specific pathological aspects; pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining. 900000000000017005 3303981011 20160731 1 900000000000207008 715865008 en 900000000000550004 Familial autosomal dominant form of arrhythmogenic right ventricular dysplasia, a heart muscle disease with life-threatening ventricular arrhythmias and left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks. 900000000000017005 3303985019 20160731 1 900000000000207008 715866009 en 900000000000550004 A mild form of familial adenomatous polyposis with main features described as the presence of fewer than 100 adenomatous polyposis, a more proximal colonic location, a delayed age of colorectal cancer onset and a more limited expression of the extracolonic features. 900000000000017005 3303989013 20160731 1 900000000000207008 715867000 en 900000000000550004 A developmental anomaly syndrome that resembles aminopterin embryopathy without history of exposure in utero to aminopterin. Main features include craniosynostosis, dysmorphic features including ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears.Limb anomalies include brachydactyly, syndactyly and clinodactyly. Also associated with mild-to-moderate intellectual deficit and short stature. 900000000000017005 3303992012 20160731 1 900000000000207008 715868005 en 900000000000550004 A surgically correctable form of primary hyperaldosteronism characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland. May be associated with hypokalemia, which, when present, may be symptomatic with muscular weakness, cramps, paresthesia or palpitations with or without atrial fibrillation.The etiology is not known. Unilateral adrenalectomy abolishes aldosterone hypersecretion and hypokalemia in most patients. 900000000000017005 3303993019 20160731 1 900000000000207008 715868005 en 900000000000550004 A surgically correctable form of primary hyperaldosteronism characterised by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland. May be associated with hypokalaemia, which, when present, may be symptomatic with muscular weakness, cramps, paresthesia or palpitations with or without atrial fibrillation.The aetiology is not known. Unilateral adrenalectomy abolishes aldosterone hypersecretion and hypokalaemia in most patients. 900000000000017005 3304018015 20160731 1 900000000000207008 715875006 en 900000000000550004 Flatiron Health US 900000000000017005 3304018015 20170731 0 900000000000207008 715875006 en 900000000000550004 Flatiron Health US 900000000000017005 3304046018 20160731 1 900000000000207008 715438008 en 900000000000550004 A multiple congenital anomaly/mental retardation contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. The most common clinical features include pre and postnatal growth retardation, psychomotor retardation, facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, a broad nasal bridge, short nose, V-shaped mouth, and small, low-set and posteriorly rotated ears). 900000000000017005 3304077016 20160731 1 900000000000207008 715899006 en 900000000000550004 A rare genetic skeletal disorder with clinical features of abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence. 900000000000017005 3304080015 20160731 1 900000000000207008 715900001 en 900000000000550004 An extremely rare glial neoplasm occurring in the region of the anterior third ventricle or hypothalamus, which is non-infiltrative and well-circumscribed and presents most frequently in middle-aged women with symptoms of memory loss and headaches and, because of its location, has a poor prognosis due to surgical morbidity. 900000000000017005 3304083018 20160731 1 900000000000207008 715901002 en 900000000000550004 A rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis. 900000000000017005 3304084012 20160731 1 900000000000207008 715901002 en 900000000000550004 A rare type of primitive neuroectodermal tumour (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis. 900000000000017005 3304088010 20160731 1 900000000000207008 715902009 en 900000000000550004 Also known as shaky legs syndrome, this is a rare movement disorder with characteristics of fast, task-specific tremor, affecting the legs and trunk while standing. The prevalence is unknown. To date, around 390 cases have been reported in the literature. Women are predominantly affected (sex ratio: 2:1) with disease onset occurring in middle aged or elderly people. At present, the pathophysiology is unknown. The disorder is sporadic but exceptional familial cases have been reported. 900000000000017005 3304096017 20160731 1 900000000000207008 715904005 en 900000000000550004 Describes a rare type of pineal parenchymal tumor (PPT) of intermediate-grade malignancy manifesting with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus, and that is classified as either grade II PPTID or grade III PPTID according to the degree of neuronal differentiation and mitotic activity. 900000000000017005 3304097014 20160731 1 900000000000207008 715904005 en 900000000000550004 Describes a rare type of pineal parenchymal tumour (PPT) of intermediate-grade malignancy manifesting with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus, and that is classified as either grade II PPTID or grade III PPTID according to the degree of neuronal differentiation and mitotic activity. 900000000000017005 3304100016 20160731 1 900000000000207008 715905006 en 900000000000550004 A cerebral cortical malformation with features of unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria. 900000000000017005 3304107018 20160731 1 900000000000207008 715907003 en 900000000000550004 A very rare form of multiple endocrine neoplasia, an inherited cancer syndrome, with parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors. Caused by heterozygous inactivating mutations in the CDKN1B gene (12p13.1-p12) encoding p27, a cyclin-dependent kinase inhibitor that acts as a negative regulator of cell cycle progression. Most cases are the result of autosomal dominant inheritance. Some cases of sporadic de novo occurrence are however reported. 900000000000017005 3304108011 20160731 1 900000000000207008 715907003 en 900000000000550004 A very rare form of multiple endocrine neoplasia, an inherited cancer syndrome, with parathyroid and anterior pituitary tumours, possibly associated with adrenal, renal, and reproductive organ tumours. Caused by heterozygous inactivating mutations in the CDKN1B gene (12p13.1-p12) encoding p27, a cyclin-dependent kinase inhibitor that acts as a negative regulator of cell cycle progression. Most cases are the result of autosomal dominant inheritance. Some cases of sporadic de novo occurrence are however reported. 900000000000017005 3304115015 20160731 1 900000000000207008 715908008 en 900000000000550004 A rare form of superficial corneal dystrophy with recurrent episodes of epithelial erosions from childhood in the absence of associated diseases. The erosions begin spontaneously or are precipitated by minor trauma, dust or smoke. The condition may become apparent by 6 months of age, but as a rule it only starts at 4 to 6 years of age. Most patients have attacks of redness, photophobia, epiphora, and ocular pain. Some experience a burning sensation and report sensitive eyes for years. Vision is sometimes impaired. Autosomal dominant pattern of inheritance. 900000000000017005 3304169018 20160731 1 900000000000207008 715924009 en 900000000000550004 A condition in which a child is chronically irritable and experiences frequent, severe temper outbursts that seem grossly out of proportion to the situation. 900000000000017005 3304226015 20160731 1 900000000000207008 715830008 en 900000000000550004 A form of diazoxide-sensitive diffuse hyperinsulinism characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. Patients present with recurring episodes of hypoglycemia associated with elevated insulin levels, within 30 minutes of a short period of anaerobic exercise. The degree of hypoglycemia associated with exercise is variable and is only partially responsive to diazoxide. Mutations in the promoter element of SLC16A1 leads to an inappropriate presence of monocarboxylic acid transporter 1(MCT1). Mutations of the promoter region of SLC16A1 that permit gene expression in pancreatic beta-cells identified to date are dominant. 900000000000017005 3304227012 20160731 1 900000000000207008 715830008 en 900000000000550004 A form of diazoxide-sensitive diffuse hyperinsulinism characterised by episodes of hypoglycaemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. Patients present with recurring episodes of hypoglycaemia associated with elevated insulin levels, within 30 minutes of a short period of anaerobic exercise. The degree of hypoglycaemia associated with exercise is variable and is only partially responsive to diazoxide. Mutations in the promoter element of SLC16A1 leads to an inappropriate presence of monocarboxylic acid transporter 1(MCT1). Mutations of the promoter region of SLC16A1 that permit gene expression in pancreatic beta-cells identified to date are dominant. 900000000000017005 3304229010 20160731 1 900000000000207008 715950008 en 900000000000550004 A very rare variant of diffuse large B-cell lymphoma mainly affecting middle-aged immunocompetent men with features of a consistent primary involvement of lymph nodes (mainly in the cervical and mediastinum lymph nodes) and with infrequent extra nodal involvement of the bone marrow and other extra-nodal sites (head and neck region, liver, spleen, and gastrointestinal tract). It has an aggressive disease course, and is associated with a poor prognosis. 900000000000017005 3304232013 20160731 1 900000000000207008 715951007 en 900000000000550004 A polymalformation syndrome with main features of agenesis of corpus callosum, distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit. Craniofacial anomalies include macrocephaly with protruding forehead and occiput and hypertelorism. Distal anomalies of limbs include preaxial or postaxial polydactyly or polysyndactyly of toes and/or hands. The large majority of patients have intellectual deficit that is severe in 80% of cases. Mutations of the kinesin KIF7 (15q26.1) and the transcriptional activator GLI3 (7p14.1) genes are responsible for the disease. An autosomal recessive disease. 900000000000017005 3304239016 20160731 1 900000000000207008 715952000 en 900000000000550004 The association of Waardenburg syndrome and Hirschsprung disease. Patients present in the neonatal period with pigmentary anomalies (including white forelock, white eyebrows and eyelashes, white skin patches and pigmentary anomalies of the irides) in association with intestinal obstruction. Neurosensorial deafness is common and early, and may be unilateral. Psychomotor development is normal. Three disease-causing genes have been identified so far: EDNRB (13q22.3) encoding the endothelin-B receptor, EDN3 (20q13.32) encoding an endothelin receptor ligand and SOX10 (22q13.1) encoding the SOX10 transcription factor. 900000000000017005 3304305017 20160731 1 900000000000207008 715980003 en 900000000000550004 A rare neurometabolic disorder with features of seizures, progressive encephalopathy and lens dislocation. The prevalence is unknown but is very rare. Symptoms usually occur within the first week after birth with feeding difficulties, vomiting and seizures which are difficult to control. The majority of patients exhibit facial dysmorphism. The course is progressive, with spasticity, severe intellectual deficit, and microcephaly seen in survivors. Lens dislocation usually occurs late in infancy but has been observed as early as two months of age. A late onset form with a milder phenotype has also been described. Caused by a mutation in the SUOX gene (12q13.13). The disease follows an autosomal recessive pattern of inheritance. 900000000000017005 3304308015 20160731 1 900000000000207008 715981004 en 900000000000550004 Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development with features of reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. It is more common in specific populations, e.g. northern Pakistanis. Consanguinity appears to play a role in incidence. Patients have a reduction in head circumference at birth of at least 2 standard deviations below ethnically matched, age- and sex-related mean values. Caused by mutations in MCPH1, WDR62, CDK5RAP2, CEP152, ASPM, CENPJ, STIL, CEP63, CEP135 , CASC5 and PHC1. These mutations appear to lead to reduced generation of cerebral cortical neurons during embryonic neurogenesis. Inheritance is autosomal recessive. 900000000000017005 3304314010 20160731 1 900000000000207008 715982006 en 900000000000550004 A type of severe combined immunodeficiency disease characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation. Prevalence is unknown. Results from null mutations in the DCLRE1C gene (10p13) that lead to a defect in the V(D)J recombination and thus to an early arrest of both B and T cell maturation. Transmission is autosomal recessive. 900000000000017005 3304315011 20160731 1 900000000000207008 715982006 en 900000000000550004 A type of severe combined immunodeficiency disease characterised by severe and recurrent infections, diarrhoea, failure to thrive, and cell sensitivity to ionising radiation. Prevalence is unknown. Results from null mutations in the DCLRE1C gene (10p13) that lead to a defect in the V(D)J recombination and thus to an early arrest of both B and T cell maturation. Transmission is autosomal recessive. 900000000000017005 3304319017 20160731 1 900000000000207008 715983001 en 900000000000550004 A rare chromosomal anomaly from a variable part of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome. 900000000000017005 3304323013 20160731 1 900000000000207008 715984007 en 900000000000550004 A very rare autosomal recessive and slowly progressive neurodegenerative disorder with the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). 900000000000017005 3304329012 20160731 1 900000000000207008 715985008 en 900000000000550004 A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex. Affected individuals typically have an unusually flat, underdeveloped midface, with an abnormally short nose and flat nasal bridge, underdeveloped upper jaw, relatively protruding lower jaw and/or a 'reverse overbite'' (or class III malocclusion). Hypoplasia of distal phalanges of fingers was reported in some cases. The pathogenesis remains uncertain, most reported cases were sporadic. 900000000000017005 3304329012 20210930 0 900000000000207008 715985008 en 900000000000550004 A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex. Affected individuals typically have an unusually flat, underdeveloped midface, with an abnormally short nose and flat nasal bridge, underdeveloped upper jaw, relatively protruding lower jaw and/or a 'reverse overbite'' (or class III malocclusion). Hypoplasia of distal phalanges of fingers was reported in some cases. The pathogenesis remains uncertain, most reported cases were sporadic. 900000000000017005 3304334011 20160731 1 900000000000207008 715986009 en 900000000000550004 The association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline). Only four cases have been reported in the literature so far. The mode of inheritance remains to be confirmed, but both autosomal dominant and recessive transmission have been considered. 900000000000017005 3304338014 20160731 1 900000000000207008 715987000 en 900000000000550004 A very rare syndrome described in three siblings of one Japanese family with main features of congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit. 900000000000017005 3304341017 20160731 1 900000000000207008 715988005 en 900000000000550004 This syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait. 900000000000017005 3304342012 20160731 1 900000000000207008 715988005 en 900000000000550004 This syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous haemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait. 900000000000017005 3304347018 20160731 1 900000000000207008 715989002 en 900000000000550004 This syndrome has main feature of congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies. It has been described in three siblings born to nonconsanguineous parents. It is likely to be transmitted as an autosomal recessive trait. 900000000000017005 3304353018 20160731 1 900000000000207008 715990006 en 900000000000550004 This syndrome has features of infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy also reported. It has been described in four patients from two families. 900000000000017005 3304354012 20160731 1 900000000000207008 715991005 en 900000000000550004 A very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. Nine cases have been reported in the literature so far. Dysmorphic features include micrognathia, cleft palate, hypertelorism and upturned nares. Clavicular aplasia is constant and agenesis of cervical vertebral bodies is frequent. Intra uterine growth retardation is constant. It is most likely that the condition is hereditary, transmitted as an autosomal recessive trait. Prognosis is poor, the syndrome is almost always lethal soon after birth. 900000000000017005 3304355013 20160731 1 900000000000207008 715991005 en 900000000000550004 A very rare syndrome characterised by poorly mineralised calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. Nine cases have been reported in the literature so far. Dysmorphic features include micrognathia, cleft palate, hypertelorism and upturned nares. Clavicular aplasia is constant and agenesis of cervical vertebral bodies is frequent. Intra uterine growth retardation is constant. It is most likely that the condition is hereditary, transmitted as an autosomal recessive trait. Prognosis is poor, the syndrome is almost always lethal soon after birth. 900000000000017005 3304358010 20160731 1 900000000000207008 715992003 en 900000000000550004 This syndrome is characterised by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children. 900000000000017005 3304359019 20160731 1 900000000000207008 715992003 en 900000000000550004 This syndrome is characterized by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children 900000000000017005 3304385015 20160731 1 900000000000207008 716004000 en 900000000000550004 Magnetic resonance imaging employs a technique to measure the mechanical properties (elasticity) of tissue by quantitatively assessing the propagation of mechanical waves through the tissue. 900000000000017005 3304391018 20160731 1 900000000000207008 716005004 en 900000000000550004 Diethylstilbestrol (DES) syndrome is a set of signs reported in offspring (children and grandchildren) of women exposed to DES during pregnancy with manifestations of reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. 900000000000017005 3304395010 20160731 1 900000000000207008 716006003 en 900000000000550004 A very rare malformation with main features of ectrodactyly of the hand and ipsilateral bifurcation of the femur. Approximately 200 cases have been reported worldwide. Congenital aplasia/hypoplasia of the tibia, accompanied by pre-axial oligodactyly or monodactyly of the feet, may also be present. In most cases, the bifurcation of the distal femur is unilateral. Patients are often small. Autosomal dominant and autosomal recessive modes of transmission have been suggested. 900000000000017005 3304400011 20160731 1 900000000000207008 716007007 en 900000000000550004 This syndrome is characterized by cleft lip and palate, profound sensorineural deafness and a sacral lipoma. It has been described in two brothers of Chinese origin born to non-consanguineous parents. Additional findings include appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive. 900000000000017005 3304401010 20160731 1 900000000000207008 716007007 en 900000000000550004 This syndrome is characterised by cleft lip and palate, profound sensorineural deafness and a sacral lipoma. It has been described in two brothers of Chinese origin born to non-consanguineous parents. Additional findings include appendages on the heel and thigh, or anterior sacral meningocoele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive. 900000000000017005 3304405018 20160731 1 900000000000207008 716008002 en 900000000000550004 A rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback. 900000000000017005 3304406017 20160731 1 900000000000207008 716008002 en 900000000000550004 A rare autosomal dominant disorder characterised by a generalised enlargement of the gingiva occurring at birth or during childhood that is associated with generalised hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback. 900000000000017005 3304455014 20160731 1 900000000000207008 716020005 en 900000000000550004 Congenital anomalies or fetal/neonatal complications in an infant that are linked to diabetes in the mother. In infants of women with established insulin-dependent diabetes mellitus, the risk of congenital malformations is 10 times higher than that in the general population, and the rate of stillbirths is five times higher than that in the general population. Macrosomia is also a common problem among infants of women with established insulin-dependent diabetes mellitus. Excess mortality among infants of women with preexisting insulin-dependent diabetes mellitus is predominantly due to congenital malformations. 900000000000017005 3304465015 20160731 1 900000000000207008 716022002 en 900000000000550004 Rare disorder with features of multiple craniofacial anomalies; brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes. The syndrome is inherited in an autosomal recessive manner. 900000000000017005 3304469014 20160731 1 900000000000207008 716023007 en 900000000000550004 A very rare syndrome described in two siblings with manifestation of prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. 900000000000017005 3304474018 20160731 1 900000000000207008 716024001 en 900000000000550004 An extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992. 900000000000017005 3304687016 20160731 1 900000000000207008 716088000 en 900000000000550004 A very rare disorder reported in three children of consanguineous parents with manifestation of follicular hamartoma, senile facies, partial alopecia, and hypohidrosis, severely delayed growth, skin hyperelasticity and cystic fibrosis. There have been no further descriptions in the literature since 1995. 900000000000017005 3304687016 20190731 0 900000000000207008 716088000 en 900000000000550004 A very rare disorder reported in three children of consanguineous parents with manifestation of follicular hamartoma, senile facies, partial alopecia, and hypohidrosis, severely delayed growth, skin hyperelasticity and cystic fibrosis. There have been no further descriptions in the literature since 1995. 900000000000017005 3304692019 20160731 1 900000000000207008 716089008 en 900000000000550004 The association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive. So far, it has been described in three males (including two brothers). An autosomal recessive mode of transmission has been suggested. 900000000000017005 3304696016 20160731 1 900000000000207008 716090004 en 900000000000550004 This syndrome has manifestation of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p. 900000000000017005 3304700012 20160731 1 900000000000207008 716091000 en 900000000000550004 Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13. Incidence is unknown. Dysmorphic features include hypotelorism, severe eye anomalies such as microphthalmia or anophthalmia, premaxillary region aplasia and cleft lip and palate. Congenital cardiac anomalies are common. The condition seems to be inherited as an autosomal recessive trait. Prognosis is poor. 900000000000017005 3304704015 20160731 1 900000000000207008 716092007 en 900000000000550004 This syndrome has manifestation of symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait. 900000000000017005 3304712011 20160731 1 900000000000207008 716094008 en 900000000000550004 This syndrome has features of fibuloulnar dysostosis with renal anomalies. It has been described in two siblings born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait. 900000000000017005 3304723010 20160731 1 900000000000207008 716097001 en 900000000000550004 This syndrome has features of ichthyosis, prominent full cheeks and sparse lateral eyebrows. It has been described in several individuals from four generations of one family. Transmission is autosomal dominant. 900000000000017005 3304723010 20190731 0 900000000000207008 716097001 en 900000000000550004 This syndrome has features of ichthyosis, prominent full cheeks and sparse lateral eyebrows. It has been described in several individuals from four generations of one family. Transmission is autosomal dominant. 900000000000017005 3304726019 20160731 1 900000000000207008 716098006 en 900000000000550004 A congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae. Prevalence is unknown. It manifests at radiography as posteromedial bowing with cortical thickening along the concavity of the curvature and, in some cases, diaphyseal broadening. Bowing of the long bones can be detected on antenatal ultrasound screening, but it is a nonspecific sign that can be associated with a variety of conditions, whose recognition is important for differentiating those that will resolve spontaneously from those that require surgery or other treatment. 900000000000017005 3304729014 20160731 1 900000000000207008 716099003 en 900000000000550004 A very rare syndromic limb malformation described in two distantly related boys. Its features are described as absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed. 900000000000017005 3304752013 20160731 1 900000000000207008 716105001 en 900000000000550004 This syndrome has manifestation of a diffuse non-epidermolytic palmoplantar keratoderma with frequent fungal infections. Prevalence in the general population is estimated at 1 in 40,000 but is much higher in northern Sweden. Transmission is autosomal dominant and the causative gene has been localised to chromosome 12q11-q13. 900000000000017005 3304756011 20160731 1 900000000000207008 716106000 en 900000000000550004 Limb body wall complex (LBWC) is a syndrome with features of severe multiple congenital anomalies. Clinical manifestations vary widely and include limb defects and visceral malformations, spinal abnormalities, absent diaphragm, bowel atresia and renal agenesis. Karyotypes have been reported as normal and no correlations with gender, parental age and teratogenic agents have been found. The principal theories are an extrinsic origin by early amniotic rupture, or a vascular origin due to an early vascular accident during embryological development. Single cases of familial occurrence have been documented. LBWC is fatal, with death occurring antenatally or early in the neonatal period. 900000000000017005 3304761013 20160731 1 900000000000207008 716107009 en 900000000000550004 A basal ganglia disorder with manifestation of parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter. 900000000000017005 3304765016 20160731 1 900000000000207008 716108004 en 900000000000550004 A rare syndrome with features of multiple congenital anomalies with macrocephaly (of post-natal onset), large anterior fontanelle, progressive complex spastic paraplegia, coarse facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive. 900000000000017005 3304771010 20160731 1 900000000000207008 716110002 en 900000000000550004 This syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation. This syndrome has been reported in two siblings. The inheritance is probably autosomal recessive. 900000000000017005 3304774019 20160731 1 900000000000207008 716111003 en 900000000000550004 Syndrome with the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant. 900000000000017005 3304778016 20160731 1 900000000000207008 716112005 en 900000000000550004 This syndrome has manifestations of microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant. 900000000000017005 3304791015 20160731 1 900000000000207008 716117004 en 900000000000550004 Anatomical variation from normal tooth structure in shape, form or location. 900000000000017005 3304802010 20160731 1 900000000000207008 716105001 en 900000000000550004 This syndrome has manifestation of a diffuse non-epidermolytic palmoplantar keratoderma with frequent fungal infections. Prevalence in the general population is estimated at 1 in 40,000 but is much higher in northern Sweden. Transmission is autosomal dominant and the causative gene has been localized to chromosome 12q11-q13. 900000000000017005 3304836016 20160731 1 900000000000207008 716131004 en 900000000000550004 The angle formed by the intersection of the line connecting points A and B and the line connecting N and Pogonion (facial line). The angle can be of a positive value in a patient with Class II skeletal pattern and a negative value in the case of class III skeletal pattern. 900000000000017005 3304840013 20160731 1 900000000000207008 716132006 en 900000000000550004 A landmark point defined as the tip of the bony anterior nasal spine at the inferior margin of the piriform aperture, in the midsagittal plane. 900000000000017005 3304844016 20160731 1 900000000000207008 716133001 en 900000000000550004 An anatomical plane in cephalometry, a line extending from nasion (the intersection of the internasal and frontonasal sutures, in the midsagittal plane) to pogonion (the most anterior point on the contour). 900000000000017005 3304848018 20160731 1 900000000000207008 716134007 en 900000000000550004 The pterygomaxillary fissure (PTM) is a bilateral radiolucent structure seen on 2D radiographs. The anterior border represents the posterior surfaces of the tuberosities of the maxilla. The landmark is taken at the most inferior point of the fissure. The fissure is an anatomic structure, but PTM is a point. 900000000000017005 3304852018 20160731 1 900000000000207008 716135008 en 900000000000550004 The tip of the crown of the most anterior maxillary incisor. 900000000000017005 3304943011 20160731 1 900000000000207008 716165003 en 900000000000550004 This syndrome has features of microcornea, which may also be accompanied by corectopia and macular hypoplasia. It has been described in three individuals from two successive generations of one family. 900000000000017005 3304943011 20200131 0 900000000000207008 716165003 en 900000000000550004 This syndrome has features of microcornea, which may also be accompanied by corectopia and macular hypoplasia. It has been described in three individuals from two successive generations of one family. 900000000000017005 3304946015 20160731 1 900000000000207008 716166002 en 900000000000550004 This syndrome has features of microcornea, glaucoma and absent frontal sinuses. Less than 10 cases have been described so far. The mode of transmission appears to be autosomal dominant. 900000000000017005 3304954018 20160731 1 900000000000207008 716169009 en 900000000000550004 An extremely rare fatal central nervous system malformation occurring during embryogenesis presenting prenatally on the ultrasound with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures, intrauterine growth restriction. An X-linked recessive inheritance has been suggested. 900000000000017005 3304959011 20160731 1 900000000000207008 716170005 en 900000000000550004 Nathalie syndrome has characteristics of deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother. 900000000000017005 3304967015 20160731 1 900000000000207008 716172002 en 900000000000550004 Oculocerebral dysplasia combines bilateral microphthalmia (or the association of microphthalmia and cryptophthalmus) and unilateral optic nerve aplasia. Two cases have been reported, a girl and her brother. A Dandy-Walker cyst was also present in one case. Transmission appears to be autosomal recessive. 900000000000017005 3304973019 20160731 1 900000000000207008 716174001 en 900000000000550004 A rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuropsychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anemia, and/or nystagmus. 900000000000017005 3304974013 20160731 1 900000000000207008 716174001 en 900000000000550004 A rare congenital syndrome characterised by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuropsychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anaemia, and/or nystagmus. 900000000000017005 3304980017 20160731 1 900000000000207008 716869006 en 900000000000550004 A genetic variant of Mendelian susceptibility to mycobacterial diseases with characteristics of mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections. The prevalence is unknown. Over 140 cases have been reported in the world. Disease onset usually occurs in patients before the age of 12 with the appearance of BCG disease, usually after receiving the vaccination. Over half of patients with this variant experience an additional infection with non-typhoidal Salmonella. Caused by mutations in the IL12RB1 gene (19p13.1) subunit that encodes for the IL-12R-beta1 chain. These mutations impair the IL-12/IL-23 pathway essential for production of IFN-beta and the resulting immunity against Salmonella and BCG infections. Inherited in an autosomal recessive manner. 900000000000017005 3304993010 20160731 1 900000000000207008 716180009 en 900000000000550004 Odontoma-dysphagia syndrome is a malformation syndrome, with characteristics of odontomas and severe dysphagia. Less than ten cases have been reported so far. Three of the reported patients manifested multiple odontomas. Occasionally, cardiac, renal and hepatic involvement has been described. In several cases, autosomal dominant inheritance has been suspected. Currently, there are no genes associated with this condition. 900000000000017005 3305005016 20160731 1 900000000000207008 716183006 en 900000000000550004 Periodontitis caused by the anatomic shape of the dental restoration and not the substance used. 900000000000017005 3305026016 20160731 1 900000000000207008 716189005 en 900000000000550004 This syndrome has characteristics of osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family. 900000000000017005 3305035011 20160731 1 900000000000207008 716191002 en 900000000000550004 An extremely rare syndrome described in less than 20 families to date and has characteristics of total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia. 900000000000017005 3305039017 20160731 1 900000000000207008 716192009 en 900000000000550004 This syndrome has characteristics of short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections). It has been described in two siblings. 900000000000017005 3305042011 20160731 1 900000000000207008 716193004 en 900000000000550004 This syndrome has characteristics of severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait. 900000000000017005 3305045013 20160731 1 900000000000207008 716194005 en 900000000000550004 This syndrome has characteristics of growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents. 900000000000017005 3305051015 20160731 1 900000000000207008 716195006 en 900000000000550004 An exceedingly rare form of brachyolmia with characteristics of mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition. 900000000000017005 3305054011 20160731 1 900000000000207008 716196007 en 900000000000550004 A genetic disorder with characteristics of the appearance of numerous cysts spread throughout the liver. Women are predominantly affected and have a larger number of cysts than affected males. Cysts are undetectable early in life and usually appear after the age of 40 years. Their number and size increases with age. Symptoms depend on the mass (compression effect) some patients are asymptomatic. Liver function is usually normal. There is no portal hypertension. Extrahepatic manifestations are very rare and may include intracranial aneurysms (usually small sized and at a low risk of rupture) and mitral leaflet abnormalities. Liver cysts result from overgrowth of biliary epithelium or from dilatation of peribiliary glands. Some cases occur sporadically, but most are inherited as an autosomal dominant trait. 900000000000017005 3305058014 20160731 1 900000000000207008 716197003 en 900000000000550004 A rare pterygium inherited autosomal dominantly, which develops in early adulthood. With characteristics of a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision. 900000000000017005 3305062015 20160731 1 900000000000207008 716198008 en 900000000000550004 A rare developmental disorder described in 4 siblings so far. Main characteristics include delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, shortness of lower limbs, bowed tibias and foot deformities. 900000000000017005 3305066017 20160731 1 900000000000207008 716199000 en 900000000000550004 This syndrome is extremely rare and has characteristics of delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases. To date, six cases have been reported in five families. Dysmorphic features include asymmetrical face, unilateral narrow palpebral fissure, divergent strabismus, long philtrum, high-arched palate, apparently low-set ears and transverse ear lobe creases on both sides. Delayed language development is constant but intellectual development can be normal. In one family, the transmission was compatible with either autosomal dominant or X-linked dominant inheritance. 900000000000017005 3305070013 20160731 1 900000000000207008 716200002 en 900000000000550004 This syndrome has characteristics of nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism. It has been described in two siblings. 900000000000017005 3305084015 20160731 1 900000000000207008 717031005 en 900000000000550004 Ministry of Health, Social Services and Equality (Spain) 900000000000017005 3305084015 20170731 0 900000000000207008 717031005 en 900000000000550004 Ministry of Health, Social Services and Equality (Spain) 900000000000017005 3305154013 20160731 1 900000000000207008 716230005 en 900000000000550004 A very rare inherited malformation syndrome with characteristics of omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities. 900000000000017005 3305157018 20160731 1 900000000000207008 716231009 en 900000000000550004 Rare syndrome with characteristics of camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis. This syndrome has been described in five members from three generations of one family. Inheritance is thought to be autosomal dominant or autosomal recessive with pseudodominance. 900000000000017005 3305161012 20160731 1 900000000000207008 716232002 en 900000000000550004 A very rare and mild form of spondylocostal dysostosis with characteristics of vertebral and costal segmentation defects, often with a reduction in the number of ribs. 900000000000017005 3305164016 20160731 1 900000000000207008 716233007 en 900000000000550004 This syndrome has characteristics of holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. It has been described in two families (with at least seven affected persons). Variable manifestations include vertebral anomalies, cleft lip/palate, microphthalmia, absent nose, dysplastic ears, hearing loss, colobomas of the iris and retina and/or bifid uvula. Inheritance is likely to be autosomal dominant with variable expressivity. 900000000000017005 3305177013 20160731 1 900000000000207008 716238003 en 900000000000550004 This syndrome has characteristics of sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit). It has been described in two brothers born to consanguineous parents. They also have dysmorphic features (triangular face, pointed chin) and bilateral obstruction of lacrimal ducts. This syndrome is transmitted as an autosomal recessive trait. 900000000000017005 3305201015 20160731 1 900000000000207008 716239006 en 900000000000550004 This syndrome is characterised by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatraemia. It has been described in two brothers. Transmission appeared to be autosomal recessive. 900000000000017005 3305202010 20160731 1 900000000000207008 716239006 en 900000000000550004 This syndrome is characterized by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive. 900000000000017005 3305216017 20160731 1 900000000000207008 716243005 en 900000000000550004 This syndrome has characteristics of profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three siblings and their mother. Inheritance is autosomal dominant. 900000000000017005 3305222014 20160731 1 900000000000207008 716245003 en 900000000000550004 This syndrome has characteristics of the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant. 900000000000017005 3305236016 20160731 1 900000000000207008 716248001 en 900000000000550004 Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome with characteristics of hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.The prevalence is unknown but to date, less than 50 cases have been described in the literature. Caused by mutations in the gene PVRL1 (11q23-q24) which encodes nectin-1, the principal receptor used by alpha-herpesviruses to mediate entry into human cells. Transmission is autosomal recessive. 900000000000017005 3305240013 20160731 1 900000000000207008 716249009 en 900000000000550004 An extremely rare mostly lethal congenital disorder with characteristics of absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of Middle Eastern descent. 900000000000017005 3305368010 20160731 1 900000000000207008 716277000 en 900000000000550004 This syndrome is characterised by chronic diarrhoea in infancy or childhood in association with intestinal glucoamylase deficiency. The prevalence is unknown. Patients with chronic diarrhoea and glucoamylase deficiency may also display other disaccharidase deficiencies (sucrase, and lactase) and signs of small intestinal mucosal injury (secondary glucoamylase deficiency). No causative mutations in the maltase-glucoamylase gene have been identified so far. Patients generally respond to a starch-free diet. 900000000000017005 3305369019 20160731 1 900000000000207008 716277000 en 900000000000550004 This syndrome is characterized by chronic diarrhea in infancy or childhood in association with intestinal glucoamylase deficiency. The prevalence is unknown. Patients with chronic diarrhea and glucoamylase deficiency may also display other disaccharidase deficiencies (sucrase, and lactase) and signs of small intestinal mucosal injury (secondary glucoamylase deficiency). No causative mutations in the maltase-glucoamylase gene have been identified so far. Patients generally respond to a starch-free diet. 900000000000017005 3305372014 20160731 1 900000000000207008 716278005 en 900000000000550004 Jeavons syndrome is an idiopathic generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures. Onset occurs in childhood, with a peak at 6-8 years of age. Eyelid myoclonia is the principle clinical feature and may or may not be associated with brief (less than 6) absences. The etiology is unknown but Jeavons syndrome appears to be genetically determined. 900000000000017005 3305373016 20160731 1 900000000000207008 716278005 en 900000000000550004 Jeavons syndrome is an idiopathic generalised form of reflex epilepsy characterised by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalised tonic-clonic seizures. Onset occurs in childhood, with a peak at 6-8 years of age. Eyelid myoclonia is the principle clinical feature and may or may not be associated with brief (less than 6) absences. The aetiology is unknown but Jeavons syndrome appears to be genetically determined. 900000000000017005 3305378013 20160731 1 900000000000207008 716279002 en 900000000000550004 Polyrrhinia is an extremely rare, major congenital malformation with characteristic of complete duplication of the nose resulting in two fully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair. 900000000000017005 3305382010 20160731 1 900000000000207008 716280004 en 900000000000550004 Tubular duplication of the esophagus is a rare congenital malformation where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in children. 900000000000017005 3305383017 20160731 1 900000000000207008 716280004 en 900000000000550004 Tubular duplication of the oesophagus is a rare congenital malformation where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true oesophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in children. 900000000000017005 3305387016 20160731 1 900000000000207008 716281000 en 900000000000550004 A form of frontotemporal dementia with characteristics of agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech. Language comprehension is relatively preserved. 900000000000017005 3305470017 20160731 1 900000000000207008 716305005 en 900000000000550004 A process that reduces the level of inorganic precipitate within the organic matrix in the enamel and dentin of the tooth. 900000000000017005 3305506012 20160731 1 900000000000207008 716318002 en 900000000000550004 Patients and families with a germline mutation in one of the DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) or the EPCAM gene but have not met criterial for hereditary nonpolyposis colon cancer. 900000000000017005 3305506012 20180131 0 900000000000207008 716318002 en 900000000000550004 Patients and families with a germline mutation in one of the DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) or the EPCAM gene but have not met criterial for hereditary nonpolyposis colon cancer. 900000000000017005 3305545019 20160731 1 900000000000207008 716334004 en 900000000000550004 This syndrome has characteristics of intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity. 900000000000017005 3305549013 20160731 1 900000000000207008 716335003 en 900000000000550004 A form of cerebral palsy with characteristics of congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking. Mean age at diagnosis is 6 years. The main clinical features are spasticity and limited movements around the mouth and throat from an early age, and brisk jaw jerks. Most cases are sporadic but several families with more than one affected member have been reported. Inheritance in these families appeared to follow an autosomal dominant pattern with variable expression and penetrance. 900000000000017005 3305552017 20160731 1 900000000000207008 716336002 en 900000000000550004 A rare inherited bone marrow failure syndrome with manifestation of an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood. The exact prevalence is unknown and less than 100 cases have been reported in the literature. The inheritance pattern is autosomal recessive. 900000000000017005 3305555015 20160731 1 900000000000207008 716337006 en 900000000000550004 This syndrome has characteristics of facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit. 900000000000017005 3305568011 20160731 1 900000000000207008 716338001 en 900000000000550004 A rare disorder with characteristics of pseudohypertrophy of muscles due to longstanding hypothyroidism. Prevalence is unknown. The syndrome usually presents between 18 months and 10 years but has been reported at earlier ages including during the neonatal period. Patients present with clinical features of hypothyroidism, including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice. Pseudohypertrophy involves the muscles of the extremities, limb girdle, trunk, hands and feet but is more prominent in the limbs, resulting in an athletic appearance. Hypothyroidism, or thyroid hormone deficiency, may be congenital and may be permanent or transient. 900000000000017005 3305706014 20160731 1 900000000000207008 230314007 en 900000000000550004 A paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia. The prevalence is unknown. Onset usually occurs during infancy or early childhood. The dystonic movements are characterised by abnormal posturing of the head and neck (torticollis) and severe arching of the spine. The dystonic movements are clearly associated with gastro-oesophageal reflux but the pathophysiological mechanism is not clearly understood. 900000000000017005 3305707017 20160731 1 900000000000207008 230314007 en 900000000000550004 A paroxysmal dystonic movement disorder occurring in association with gastro-esophageal reflux, and, in some cases, hiatal hernia. The prevalence is unknown. Onset usually occurs during infancy or early childhood. The dystonic movements are characterized by abnormal posturing of the head and neck (torticollis) and severe arching of the spine. The dystonic movements are clearly associated with gastro-esophageal reflux but the pathophysiological mechanism is not clearly understood. 900000000000017005 3305736017 20160731 1 900000000000207008 716378008 en 900000000000550004 A very rare, severe, genetic, combined immunodeficiency disorder with characteristics of lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction. 900000000000017005 3305740014 20160731 1 900000000000207008 716379000 en 900000000000550004 Acute fatty liver of pregnancy is a rare but severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality with manifestations of jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy. 900000000000017005 3305743011 20160731 1 900000000000207008 716380002 en 900000000000550004 A form of primary progressive aphasia with characteristics of impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge. 900000000000017005 3305747012 20160731 1 900000000000207008 716381003 en 900000000000550004 A partial deletion of the short arm of chromosome 8 with manifestations of low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. The prevalence is unknown but 8p23.1 deletions are rare. The clinical manifestations are variable and do not depend on the size of the deletion, since this is the same in the majority of patients. Most 8p23.1 deletions occur de novo, however, parents can carry and transmit the chromosomal rearrangement to their children as well, with a risk of 50% for each child. 900000000000017005 3305838012 20160731 1 900000000000207008 5911000124102 en 900000000000550004 The plane along the cutting edge of an incisor. 900000000000017005 3305898010 20160731 1 900000000000207008 716387004 en 900000000000550004 A well-defined and clinically recognizable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. It has been reported in 20 patients. Dysmorphic features include microcephaly, downslanting palpebral fissures, flat and long philtrum, micrognathia and low-set and dysplastic ears. The spectrum of limb defects ranges from monodactylous ectrodactyly, brachydactyly and syndactyly to camptodactyly. The lower limbs tend to be more often and more severely affected than the upper limbs. 900000000000017005 3305899019 20160731 1 900000000000207008 716387004 en 900000000000550004 A well-defined and clinically recognisable syndrome characterised by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. It has been reported in 20 patients. Dysmorphic features include microcephaly, downslanting palpebral fissures, flat and long philtrum, micrognathia and low-set and dysplastic ears. The spectrum of limb defects ranges from monodactylous ectrodactyly, brachydactyly and syndactyly to camptodactyly. The lower limbs tend to be more often and more severely affected than the upper limbs. 900000000000017005 3306040010 20160731 1 900000000000207008 716456000 en 900000000000550004 A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. It has been described in 23 patients. The clinical phenotype is extremely variable. The most common features include mild-to-moderate intellectual deficit and slightly dysmorphic facial features: microcephaly, long and narrow face, short philtrum, large posteriorly rotated ears and high nasal bridge. Autism and gait ataxia have been noted occasionally. The syndrome is caused by a recurrent deletion of the 3q subtelomeric region. Most of the deletions appear de novo but a few of them were inherited from mildly or non-affected parents. 900000000000017005 3306163015 20160731 1 900000000000207008 716515000 en 900000000000550004 A chromosomal anomaly with characteristics of severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease. 900000000000017005 3306198017 20160731 1 900000000000207008 716530009 en 900000000000550004 Staphylococcus aureus resistant to methicillin (oxacillin) but resistant to fewer other drug classes than the multiple drug resistant MRSA strains. Oxacillin (or cefoxitin) represents all other β-lactams (and cephamycins) and resistance to either of these predicts non-susceptibility to all categories of β-lactam antimicrobials i.e. all categories of penicillins, cephalosporins, β-lactamase inhibitors and carbapenems. 900000000000017005 3306202015 20160731 1 900000000000207008 716531008 en 900000000000550004 Staphylococcus aureus resistant to methicillin (oxacillin), therefore non-susceptibility to all categories of β-lactam antimicrobials i.e. all categories of penicillins, cephalosporins, β-lactamase inhibitors and carbapenems. In addition resistant to other classes of antimicrobial drugs such as aminoglycosides, ansamycins, fluoroquinolones, folate pathway inhibitors, fucidanes, glycopeptides, glycylcyclines, lincosamides, lipopeptides, macrolides, oxazolidinones, phenicols, phosphonic acids, streptogramins, and tetracycline. 900000000000017005 3306264016 20160731 1 900000000000207008 718175009 en 900000000000550004 A rare systemic inflammatory disease associated with long-lasting biopersistance of post-vaccinal aluminic granulomas. More than 600 cases have been reported to date, most of them in France. This is probably due to large-scale vaccination with aluminum-containing vaccines in France during the 1990s. The disease generally manifests with myalgias of variable intensity, and is usually associated with weakness and chronic fatigue. Belongs to the group of Autoimmune/inflammatory Syndromes Induced by Adjuvants (ASIA): it is triggered, probably in genetically predisposed patients, by injection of vaccines containing aluminum hydroxide and may occur up to 10 years following vaccination. 900000000000017005 3306265015 20160731 1 900000000000207008 718175009 en 900000000000550004 A rare systemic inflammatory disease associated with long-lasting biopersistance of post-vaccinal aluminic granulomas. More than 600 cases have been reported to date, most of them in France. This is probably due to large-scale vaccination with aluminium-containing vaccines in France during the 1990s. The disease generally manifests with myalgias of variable intensity, and is usually associated with weakness and chronic fatigue. Belongs to the group of Autoimmune/inflammatory Syndromes Induced by Adjuvants (ASIA): it is triggered, probably in genetically predisposed patients, by injection of vaccines containing aluminium hydroxide and may occur up to 10 years following vaccination. 900000000000017005 3306284017 20160731 1 900000000000207008 12265261000119102 en 900000000000550004 The spontaneous self-limiting hygroma of infancy. 900000000000017005 3306404017 20160731 1 900000000000207008 716855006 en 900000000000550004 A rare malignant sex cord stromal tumor of ovary of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and occasionally Cushing syndrome. 900000000000017005 3306405016 20160731 1 900000000000207008 716855006 en 900000000000550004 A rare malignant sex cord stromal tumour of ovary of unknown histological lineage, occurring in adult women, characterised, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhoea, or oligomenorrhoea) and occasionally Cushing syndrome. 900000000000017005 3306465018 20160731 1 900000000000207008 718465002 en 900000000000550004 Clinical stage 0 is used to record the tumor stage based on clinical assessment (not pathological assessment). A patient with stage 0 would not have invasive cancer. 900000000000017005 3306466017 20160731 1 900000000000207008 718465002 en 900000000000550004 Clinical stage 0 is used to record the tumour stage based on clinical assessment (not pathological assessment). A patient with stage 0 would not have invasive cancer. 900000000000017005 3306604012 20160731 1 900000000000207008 715963002 en 900000000000550004 The patients are born with hair that falls out and is not replaced. Histologic studies show malformation of the hair follicles. Papillary lesions over most of the body and almost complete absence of hair are features. 900000000000017005 3306651014 20160731 1 900000000000207008 716565009 en 900000000000550004 Sexual exploitation is a form of sexual abuse. Sexual exploitation of children and young people under 18 involves exploitative situations, contexts and relationships where young people receive something for example drugs, alcohol, accommodation as a result of them performing or others performing on them, sexual activities. In sexual exploitation there is financial gain from abuse. 900000000000017005 3306687019 20160731 1 900000000000207008 715850007 en 900000000000550004 Dynamic studies where sections are obtained in rapid succession at a given level during forced expiration. 900000000000017005 3306711019 20160731 1 900000000000207008 716584007 en 900000000000550004 Caused by the Chapare virus discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004. An acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death. 900000000000017005 3306712014 20160731 1 900000000000207008 716584007 en 900000000000550004 Caused by the Chapare virus discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004. An acute viral haemorrhagic fever characterised by fever, myalgia, arthralgia, and multiple haemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death. 900000000000017005 3306720011 20160731 1 900000000000207008 716585008 en 900000000000550004 Caused by the Lujo virus, a zoonotic disease from Zambia, Africa, whose reservoir is unknown. Characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% and a moderate to high level of nosocomial transmission. 900000000000017005 3306721010 20160731 1 900000000000207008 716585008 en 900000000000550004 Caused by the Lujo virus, a zoonotic disease from Zambia, Africa, whose reservoir is unknown. Characterised by fever and haemorrhagic manifestations with an extremely high fatality rate of 80% and a moderate to high level of nosocomial transmission. 900000000000017005 3306724019 20160731 1 900000000000207008 716586009 en 900000000000550004 A rare form of gastric carcinoma (seen in approximately 10% of cases) with a male predominance, with characteristics of latent Epstein-Barr Virus infection in gastric carcinoma cells, diffuse-type histology, a proximal location (in the body and cardia of the stomach) and a relatively good prognosis. 900000000000017005 3306741017 20160731 1 900000000000207008 5801000124106 en 900000000000550004 An anatomic point; the extreme superior point of the condyle. 900000000000017005 3306756014 20160731 1 900000000000207008 5891000124104 en 900000000000550004 The lowest point on the inferior orbital margin (bilateral). 900000000000017005 3306777012 20160731 1 900000000000207008 716588005 en 900000000000550004 A rare ovarian germ cell malignant tumor arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin. It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma. 900000000000017005 3306778019 20160731 1 900000000000207008 716588005 en 900000000000550004 A rare ovarian germ cell malignant tumour arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterised by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin. It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma. 900000000000017005 3306785015 20160731 1 900000000000207008 716590006 en 900000000000550004 A rare and benign but locally aggressive fibrovascular tumor arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures. 900000000000017005 3306786019 20160731 1 900000000000207008 716590006 en 900000000000550004 A rare and benign but locally aggressive fibrovascular tumour arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures. 900000000000017005 3306791018 20160731 1 900000000000207008 716592003 en 900000000000550004 A rare slow growing neuronal tumor seen more frequently in females than males, occurring most commonly in the cerebellum but occasionally in the supratentorial compartment or the fourth ventricle and presenting in the 4th to 6th decade of life with symptoms of dizziness, headache and gait instability. It often has a high rate of local recurrence. 900000000000017005 3306792013 20160731 1 900000000000207008 716592003 en 900000000000550004 A rare slow growing neuronal tumour seen more frequently in females than males, occurring most commonly in the cerebellum but occasionally in the supratentorial compartment or the fourth ventricle and presenting in the 4th to 6th decade of life with symptoms of dizziness, headache and gait instability. It often has a high rate of local recurrence. 900000000000017005 3306797019 20160731 1 900000000000207008 716593008 en 900000000000550004 Salivary gland type cancer of the breast describes a group of uncommon neoplasms, usually seen in the salivary glands but occurring in the breast, with a variable clinicopathologic spectrum and divided into those with myoepithelial differentiation and those without. 900000000000017005 3306824013 20160731 1 900000000000207008 5971000124106 en 900000000000550004 An anatomic point; the point midway between the two posterior borders of the left and right mandibular rami at the intersection with the basilar portion of the occipital bone. 900000000000017005 3306825014 20160731 1 900000000000207008 5931000124108 en 900000000000550004 Gonion is the most posterior inferior point on the outline of the angle of the mandible. 900000000000017005 3306828011 20160731 1 900000000000207008 5901000124100 en 900000000000550004 The outer point of the intersection between the nasion-sella line and the soft tissue profile. 900000000000017005 3306830013 20160731 1 900000000000207008 5951000124101 en 900000000000550004 The most anterior point on the frontonasal suture. The intersection of the internasal and frontonasal sutures in the midsagittal plane. 900000000000017005 3306835015 20160731 1 900000000000207008 5781000124107 en 900000000000550004 The most superior anterior point on the mandibular alveolar process between the central incisors (midsagittal). 900000000000017005 3306837011 20160731 1 900000000000207008 5961000124104 en 900000000000550004 The most inferior point of the mandibular symphysis, in the midsagittal plane. 900000000000017005 3306838018 20160731 1 900000000000207008 5921000124105 en 900000000000550004 The innermost point on the contour of the premaxilla between anterior nasal spine and the incisor tooth. 900000000000017005 3306839014 20160731 1 900000000000207008 5981000124109 en 900000000000550004 An anatomic plane in cephalometry; the highest point on the upper margin of the opening of each external auditory canal and the low point on the lower margin of the left orbit, used to orient a human skull or head usually so that the plane is horizontal. 900000000000017005 3306841010 20160731 1 900000000000207008 5821000124101 en 900000000000550004 An anatomic point; the most anterior point on the mandibular symphysis. 900000000000017005 3306864012 20160731 1 900000000000207008 5871000124100 en 900000000000550004 The incisal tip of the most labially placed maxillary central incisor. 900000000000017005 3306865013 20160731 1 900000000000207008 5861000124107 en 900000000000550004 The mesial contact point of the mandibular first permanent molar. 900000000000017005 3306866014 20160731 1 900000000000207008 5941000124103 en 900000000000550004 The deepest midline point on the bony curvature of the anterior mandible, between infradentale and pogonion. 900000000000017005 3306870018 20160731 1 900000000000207008 5811000124109 en 900000000000550004 The most superior point on the anatomical external auditory meatus. 900000000000017005 3306903016 20160731 1 900000000000207008 5791000124105 en 900000000000550004 The lowest midline point of the upper lip. 900000000000017005 3306904010 20160731 1 900000000000207008 5881000124102 en 900000000000550004 The highest midline point of the lower lip. 900000000000017005 3306929016 20160731 1 900000000000207008 5851000124105 en 900000000000550004 The bony contour of the angle of the mandible, a line not a point. 900000000000017005 3307064015 20160731 1 900000000000207008 716647001 en 900000000000550004 A type of low-grade glioma with a mixed astrocytoma and oligodendroglioma histology, manifesting with headaches, speech and motor problems, seizures and in some cases subarachnoid haemorrhage. 900000000000017005 3307065019 20160731 1 900000000000207008 716647001 en 900000000000550004 A type of low-grade glioma with a mixed astrocytoma and oligodendroglioma histology, manifesting with headaches, speech and motor problems, seizures and in some cases subarachnoid hemorrhage. 900000000000017005 3307068017 20160731 1 900000000000207008 716648006 en 900000000000550004 A rare primary malignant hepatic neoplasm of childhood that is mesenchymal in origin. It can rarely occur in adults. It has manifestations of abdominal mass, right upper quadrant or epigastric pain, nausea, anorexia, intermittent fever or headache. 900000000000017005 3307074017 20160731 1 900000000000207008 716649003 en 900000000000550004 A rare malignant tumor of the peritoneal cavity of extra-ovarian origin. Clinically and histologically similar to advanced-stage serous ovarian carcinoma. It is almost exclusively found in women. Can occur many years after oophorectomy performed for benign diseases or prophylactic oophorectomy. The tumor develops in the peritoneum and spreads to the abdomen, pelvis and ovaries.Primary peritoneal carcinoma has an epithelial origin and probably derives from embryonal epithelium. The fallopian tubes are suspected as the primary site. 900000000000017005 3307075016 20160731 1 900000000000207008 716649003 en 900000000000550004 A rare malignant tumour of the peritoneal cavity of extra-ovarian origin. Clinically and histologically similar to advanced-stage serous ovarian carcinoma. It is almost exclusively found in women. Can occur many years after oophorectomy performed for benign diseases or prophylactic oophorectomy. The tumour develops in the peritoneum and spreads to the abdomen, pelvis and ovaries. Primary peritoneal carcinoma has an epithelial origin and probably derives from embryonal epithelium. The fallopian tubes are suspected as the primary site. 900000000000017005 3307080013 20160731 1 900000000000207008 716650003 en 900000000000550004 A rare benign tumor characterized by the formation of intra-abdominal multilocular cystic masses. It occurs more frequently in women of child-bearing age. In women, the masses are generally located on the peritoneal surface of the uterus and rectum, while in men they are generally located on the peritoneal surface of the bladder and rectum. The tumor can also spread into the upper portions of the peritoneal cavity. Appears to originate from the peritoneal mesothelium.There is no relation with asbestos exposure. Invasive or malignant progression has been described. 900000000000017005 3307081012 20160731 1 900000000000207008 716650003 en 900000000000550004 A rare benign tumour characterised by the formation of intra-abdominal multilocular cystic masses. It occurs more frequently in women of child-bearing age. In women, the masses are generally located on the peritoneal surface of the uterus and rectum, while in men they are generally located on the peritoneal surface of the bladder and rectum. The tumour can also spread into the upper portions of the peritoneal cavity. Appears to originate from the peritoneal mesothelium.There is no relation with asbestos exposure. Invasive or malignant progression has been described. 900000000000017005 3307085015 20160731 1 900000000000207008 716651004 en 900000000000550004 A rare type of small bowel malignancy, originating in the smooth muscle cells within the muscularis propria or the muscularis mucosa, most often found in the jejunum, and presenting with gastrointestinal bleeding and anemia and sometimes with other non-specific symptoms such as vomiting, nausea, abdominal pain and weakness and spreading to regional lymph nodes in 14% of cases. 900000000000017005 3307086019 20160731 1 900000000000207008 716651004 en 900000000000550004 A rare type of small bowel malignancy, originating in the smooth muscle cells within the muscularis propria or the muscularis mucosa, most often found in the jejunum, and presenting with gastrointestinal bleeding and anaemia and sometimes with other non-specific symptoms such as vomiting, nausea, abdominal pain and weakness and spreading to regional lymph nodes in 14% of cases. 900000000000017005 3307089014 20160731 1 900000000000207008 716652006 en 900000000000550004 A rare hepatic tumor that may manifest with abdominal pain or fullness, as well as diarrhea or weight loss. More than 10% of cases are asymptomatic and in rare cases a carcinoid syndrome may be observed. The age of onset is variable. The etiology is still unknown but it is thought to arise from Kulchitsky cells originating in the neural crest. 900000000000017005 3307090017 20160731 1 900000000000207008 716652006 en 900000000000550004 A rare hepatic tumour that may manifest with abdominal pain or fullness, as well as diarrhoea or weight loss. More than 10% of cases are asymptomatic and in rare cases a carcinoid syndrome may be observed. The age of onset is variable. The aetiology is still unknown but it is thought to arise from Kulchitsky cells originating in the neural crest. 900000000000017005 3307094014 20160731 1 900000000000207008 716653001 en 900000000000550004 Thymic neuroendocrine carcinoma is a type of thymic epithelial neoplasm displaying evidence of neuroendocrine differentiation. The exact prevalence or incidence is unknown. Men are predominantly affected. Thymic neuroendocrine carcinoma is aggressive with a poor prognosis. 900000000000017005 3307097019 20160731 1 900000000000207008 716654007 en 900000000000550004 A form of hereditary nonpolyposis colon cancer characterized by concurrent presentation of a primary tumor of the central nervous system (principally glial tumors), relatively few colonic polyps, and adenomas or colorectal carcinoma. 900000000000017005 3307098012 20160731 1 900000000000207008 716654007 en 900000000000550004 A form of hereditary nonpolyposis colon cancer characterised by concurrent presentation of a primary tumour of the central nervous system (principally glial tumours), relatively few colonic polyps, and adenomas or colorectal carcinoma. 900000000000017005 3307101011 20160731 1 900000000000207008 716655008 en 900000000000550004 A severe and rare form of systemic mastocytosis with manifestation of considerable infiltration of mast cells in different tissues. It represents less than 10% of cases of systemic mastocytosis. This disease doesn't usually develop in children. Cutaneous involvement is normally absent. Patients present with severe symptoms related to mast cell invasion and the intense release of mediators including syncope, recurrent flushing, organomegaly and organ dysfunction. The most serious complication is potentially fatal anaphylactic shock.There is evidence of an activating mutation of KIT, usually D816V, in the mast cells of the vast majority of patients. The prognosis is poor with a median survival of 2 to 4 years. 900000000000017005 3307106018 20160731 1 900000000000207008 716657000 en 900000000000550004 An extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group. 900000000000017005 3307107010 20160731 1 900000000000207008 716657000 en 900000000000550004 An extremely rare inherited tumour syndrome within the familial nonmedullary thyroid cancer group. 900000000000017005 3307111016 20160731 1 900000000000207008 716658005 en 900000000000550004 The presence in both breasts of multiple voluminous fibroadenomas with heterogeneous echo patterns. Prevalence is unknown. Mammary polyadenomatosis is a benign mastopathy caused by predominantly epithelial cell hyperplasia. Onset usually occurs during adolescence or in young women between 15 and 30 years of age. 900000000000017005 3307111016 20200731 0 900000000000207008 716658005 en 900000000000550004 The presence in both breasts of multiple voluminous fibroadenomas with heterogeneous echo patterns. Prevalence is unknown. Mammary polyadenomatosis is a benign mastopathy caused by predominantly epithelial cell hyperplasia. Onset usually occurs during adolescence or in young women between 15 and 30 years of age. 900000000000017005 3307114012 20160731 1 900000000000207008 716659002 en 900000000000550004 A highly malignant neoplasm that can occur on the lip, oral cavity, nasal cavity, pharynx, larynx and paranasal sinuses and that accounts for 90% of all head and neck cancers, occurring most frequently in adults between the ages of 40-60. Presents with a variety of manifestations, depending on the primary site, such as voice hoarseness, dysphagia, ulceration of oral mucosa, hearing loss, epistaxis, nasal obstruction and enlargement of a cervical lymph node. Often associated with extensive invasion into surrounding tissues and a rapid metastasis to distant organs. 900000000000017005 3307114012 20190731 0 900000000000207008 716659002 en 900000000000550004 A highly malignant neoplasm that can occur on the lip, oral cavity, nasal cavity, pharynx, larynx and paranasal sinuses and that accounts for 90% of all head and neck cancers, occurring most frequently in adults between the ages of 40-60. Presents with a variety of manifestations, depending on the primary site, such as voice hoarseness, dysphagia, ulceration of oral mucosa, hearing loss, epistaxis, nasal obstruction and enlargement of a cervical lymph node. Often associated with extensive invasion into surrounding tissues and a rapid metastasis to distant organs. 900000000000017005 3307119019 20160731 1 900000000000207008 716660007 en 900000000000550004 This infection causes no clinical manifestations in the majority of infants. Indeed, the occurrence of congenital infection with Epstein-Barr virus has never been demonstrated conclusively and must be very rare. One case has been reported to present after birth with multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy and multiple areas of metaphysitis of the long bones at birth. A low birth weight was also reported. 900000000000017005 3307124016 20160731 1 900000000000207008 716661006 en 900000000000550004 A benign or malignant neoplasm arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic. Primary cardiac neoplasms are rare in children. The vast majority of primary cardiac neoplasms in children are benign, whilst approximately 10% are malignant. In contrast, the majority of secondary neoplasms are malignant. 900000000000017005 3307128018 20160731 1 900000000000207008 716662004 en 900000000000550004 A form of Parkinson disease with age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non-motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia. The exact etiology is still unknown but mutations in the genes SNCA (4q21.3-q22), LRRK2 (12q12), and VPS35 (16q12) have been implicated in its pathogenesis. Transmission is autosomal dominant. 900000000000017005 3307129014 20160731 1 900000000000207008 716662004 en 900000000000550004 A form of Parkinson disease with age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non-motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia. The exact aetiology is still unknown but mutations in the genes SNCA (4q21.3-q22), LRRK2 (12q12), and VPS35 (16q12) have been implicated in its pathogenesis. Transmission is autosomal dominant. 900000000000017005 3307136010 20160731 1 900000000000207008 716663009 en 900000000000550004 An inherited retinal dystrophy with manifestation of severe congenital night blindness, progressive retinal dystrophy and nystagmus. Blindness is often complete by the age of 30 years. 900000000000017005 3307140018 20160731 1 900000000000207008 716664003 en 900000000000550004 Primary dystonia DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia. 900000000000017005 3307144010 20160731 1 900000000000207008 716665002 en 900000000000550004 A chronic type of intestinal failure with characteristics of a nonfunctioning small bowel that may be reversible or irreversible. The body is unable to maintain energy and nutritional needs through absorption of food or nutrients via the intestinal tract despite being metabolically stable. This necessitates long-term parenteral feeding. 900000000000017005 3307149017 20160731 1 900000000000207008 716667005 en 900000000000550004 An anatomic variant of frontotemporal dementia characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy. 900000000000017005 3307149017 20210731 0 900000000000207008 716667005 en 900000000000550004 An anatomic variant of frontotemporal dementia characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy. 900000000000017005 3307150017 20160731 1 900000000000207008 716667005 en 900000000000550004 An anatomic variant of frontotemporal dementia characterised by behavioural dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy. 900000000000017005 3307150017 20210731 0 900000000000207008 716667005 en 900000000000550004 An anatomic variant of frontotemporal dementia characterised by behavioural dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy. 900000000000017005 3307159016 20160731 1 900000000000207008 716670009 en 900000000000550004 Assessment to determine leisure or play needs. Supports the selection of appropriate leisure activity or play with the aim of stimulating a change in mental outlook from negative to positive. These activities are supported in order to encourage motivation to recover from illness. Diversional care can also be used as a means of supporting a patient to improve the use of motor skills. 900000000000017005 3307160014 20160731 1 900000000000207008 94081000119107 en 900000000000550004 Vascular access induced steal syndrome due to a functioning arteriovenous fistula or graft. 900000000000017005 3307191015 20160731 1 900000000000207008 716682000 en 900000000000550004 Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia. Prevalence of this form is not known. Presents with moderate to severe anemia, jaundice and splenomegaly. Rare mutations in the beta-globin HBB gene result in synthesis of extremely unstable beta-globin variants which precipitate in erythroid precursors causing ineffective erythropoiesis. 900000000000017005 3307192010 20160731 1 900000000000207008 716682000 en 900000000000550004 Dominant beta-thalassaemia is a form of beta-thalassaemia resulting in moderate to severe anaemia. Prevalence of this form is not known. Presents with moderate to severe anaemia, jaundice and splenomegaly. Rare mutations in the beta-globin HBB gene result in synthesis of extremely unstable beta-globin variants which precipitate in erythroid precursors causing ineffective erythropoiesis. 900000000000017005 3307197016 20160731 1 900000000000207008 716683005 en 900000000000550004 The syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent. Only five patients have been reported to date. All patients have behavioral disorders suggesting that some of the genes within the duplication interval may be candidates for the autistic spectrum. Intellectual skills range from normal to mild intellectual deficiency. Other features are variable with no striking common phenotypic features. 900000000000017005 3307198014 20160731 1 900000000000207008 716683005 en 900000000000550004 The syndrome is associated with a broad clinical spectrum, of which behavioural disorders and poor social interaction seem to be the most consistent. Only five patients have been reported to date. All patients have behavioural disorders suggesting that some of the genes within the duplication interval may be candidates for the autistic spectrum. Intellectual skills range from normal to mild intellectual deficiency. Other features are variable with no striking common phenotypic features. 900000000000017005 3307202011 20160731 1 900000000000207008 716684004 en 900000000000550004 A recently described type of encephalitis affecting young women with teratoma of ovary and associated with antibodies that react with neuronal cell surface auto-antigens. 900000000000017005 3307205013 20160731 1 900000000000207008 716685003 en 900000000000550004 A rare rectal disease characterized by rectal bleeding, abdominal pain, passage of mucus, sensation of incomplete evacuation, straining at defecation and rectal prolapse, secondary to ischemic changes in the rectum. 900000000000017005 3307206014 20160731 1 900000000000207008 716685003 en 900000000000550004 A rare rectal disease characterised by rectal bleeding, abdominal pain, passage of mucous, sensation of incomplete evacuation, straining at defaecation and rectal prolapse, secondary to ischaemic changes in the rectum. 900000000000017005 3307233013 20160731 1 900000000000207008 716696006 en 900000000000550004 An inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. The exact prevalence remains unknown. Most commonly, the age of onset is in adolescence, although earlier presentations in infancy or childhood have been reported. Muscle weakness of variable severity is the major clinical manifestation. Mutations in the dynamin 2 (DNM2) gene on chromosome 19p13.2 are responsible. 900000000000017005 3307236017 20160731 1 900000000000207008 716697002 en 900000000000550004 A benign genetic condition with characteristic of persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy. 900000000000017005 3307245016 20160731 1 900000000000207008 716699004 en 900000000000550004 A suprabasal subtype of epidermolysis bullosa simplex characterized by generalized superficial erosions and less commonly blistering. Prevalence is unknown but 11 cases have been reported to date. Onset of the disease is usually at birth with skin blistering and generalized erythema which rapidly regresses. The disease is due to mutations in the PKP1 (1q32) gene encoding plakophilin-1. Transmission is autosomal recessive. 900000000000017005 3307246015 20160731 1 900000000000207008 716699004 en 900000000000550004 A suprabasal subtype of epidermolysis bullosa simplex characterised by generalised superficial erosions and less commonly blistering. Prevalence is unknown but 11 cases have been reported to date. Onset of the disease is usually at birth with skin blistering and generalised erythema which rapidly regresses. The disease is due to mutations in the PKP1 (1q32) gene encoding plakophilin-1. Transmission is autosomal recessive. 900000000000017005 3307249010 20160731 1 900000000000207008 716700003 en 900000000000550004 A basal subtype of epidermolysis bullosa simplex with manifestation of belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. Prevalence is unknown but 2 families have been reported to date. Onset of the disease is usually at birth. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. The disease is due to a specific mutation in the KRT5 (12q13.13) gene, encoding keratin 5. Transmission is autosomal dominant. 900000000000017005 3307252019 20160731 1 900000000000207008 716701004 en 900000000000550004 A basal subtype of epidermolysis bullosa simplex characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia. Prevalence is unknown, but at least 12 families have been reported to date. Onset is at birth and babies are usually born prematurely with a low weight and poor general condition. Most cases are due to mutations in the PLEC gene (8q24) encoding the plectin 1 protein. Transmission is autosomal recessive. 900000000000017005 3307253012 20160731 1 900000000000207008 716701004 en 900000000000550004 A basal subtype of epidermolysis bullosa simplex characterised by generalised severe blistering with widespread congenital absence of skin and pyloric atresia. Prevalence is unknown, but at least 12 families have been reported to date. Onset is at birth and babies are usually born prematurely with a low weight and poor general condition. Most cases are due to mutations in the PLEC gene (8q24) encoding the plectin 1 protein. Transmission is autosomal recessive. 900000000000017005 3307265011 20160731 1 900000000000207008 716704007 en 900000000000550004 The most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis. Clinical characteristics are yellowish waxy-crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia. Histological characteristics are the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. 900000000000017005 3307266012 20160731 1 900000000000207008 716704007 en 900000000000550004 The most rare form of primary cutaneous amyloidosis, a skin disease characterised by the accumulation of amyloid deposits in the dermis. Clinical characteristics are yellowish waxy-crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia. Histological characteristics are the localised deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. 900000000000017005 3307272012 20160731 1 900000000000207008 716706009 en 900000000000550004 A rare X-linked genetic epilepsy syndrome affecting females. The syndrome has characteristics of seizures starting in the first years of life and intellectual disability and may resemble Dravet syndrome. In families with this disease, male carriers are unaffected despite the X-linked inheritance. 900000000000017005 3307278011 20160731 1 900000000000207008 716708005 en 900000000000550004 FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established. Prevalence is unknown. The FRAXF fragile site is located at Xq28 within the 5'UTR of the TMEM185A gene. 900000000000017005 3307282013 20160731 1 900000000000207008 716709002 en 900000000000550004 FRAXE is a form of nonsyndromic X-linked mental retardation with characteristic of mild intellectual deficit. The estimated prevalence in the general population is between 1 in 100,000 and 1 in 150,000. FRAXE manifests in individuals with more than 200 CCG repeats in the 5' UTR of the AFF2 gene (Xq28). 900000000000017005 3307291012 20160731 1 900000000000207008 716712004 en 900000000000550004 A respiratory disease caused by the deposition of hemosiderin-laden macrophages in lungs as a result of repeated alveolar hemorrhage secondary to another disease. Seen in dysimmunitary disorders for example Heiner syndrome, thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of hemoptysis, anemia and diffuse parenchymal infiltrates on chest radiography. 900000000000017005 3307292017 20160731 1 900000000000207008 716712004 en 900000000000550004 A respiratory disease caused by the deposition of haemosiderin-laden macrophages in lungs as a result of repeated alveolar haemorrhage secondary to another disease. Seen in dysimmunitary disorders for example Heiner syndrome, thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of haemoptysis, anaemia and diffuse parenchymal infiltrates on chest radiography. 900000000000017005 3307320017 20160731 1 900000000000207008 716721003 en 900000000000550004 An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. 900000000000017005 3307321018 20160731 1 900000000000207008 716721003 en 900000000000550004 An inborn error of metabolism characterised by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibres. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. 900000000000017005 3307325010 20160731 1 900000000000207008 716722005 en 900000000000550004 A motor sensory axonal form of Guillain-Barré syndrome. Patients present with muscle weakness and sensory deficits, similar to that of the more frequent demyelinating form of Guillain-Barré syndrome. As in other types of Guillain-Barré syndrome, an infectious disease precedes the onset of limb weakness in the majority of cases. Although the exact pathological mechanism is poorly understood the disease is associated with the presence of antiganglioside antibodies and may be caused by antibody-mediated primary axonal degeneration or antibody-mediated inhibition of voltage-gated sodium channels. 900000000000017005 3307329016 20160731 1 900000000000207008 716723000 en 900000000000550004 An inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barré syndrome. The clinical course is divided into three phases. The first phase (lasting a few weeks) has characteristics of rapidly progressive muscle weakness. It is symmetrical and may cause acute neuromuscular paralysis. Sensory disturbances, intense pains, and cramps may also occur. During the second phase (variable duration), symptoms become stable but other manifestations (cardiac arrhythmias, hyper/hypotension and gastric dysmotility) may occur. During the third (recovery) phase, lasting a few months or longer, symptoms slowly regress. Many patients have residual findings (weakness, sensory disturbances, fatigue or pain) for many months or even years. In the majority of cases, an infectious disease precedes the onset of limb weakness, with Campylobacter jejuni infection being the most frequent initiating event. 900000000000017005 3307333011 20160731 1 900000000000207008 716724006 en 900000000000550004 A rare subtype of type 1 autosomal dominant cerebellar ataxia with characteristics of cerebellar ataxia, tremor and cognitive impairment. Prevalence is unknown. Fewer than 80 patients affected by the disease have been identified to date. Age of onset is from 20 to 66 years. Genetic testing has shown that patients originally classified under SCA15 and SCA16 have the same subtype caused by a deletion in the inositol 1,4,5-triphosphate receptor 1 ITPR1 gene (3p26.1). Prognosis is generally good and life-shortening events do not usually occur. 900000000000017005 3307381016 20160731 1 900000000000207008 716740009 en 900000000000550004 Thomas syndrome has characteristics of renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive. 900000000000017005 3307386014 20160731 1 900000000000207008 716741008 en 900000000000550004 A very rare congenital malformation syndrome with characteristics of bilateral hypoplasia of the tibia and polydactyly of the feet and hands. Prevalence is unknown but the syndrome is very rare with only a few case reports described in the literature. Additional findings include a thickened and/or duplicated fibula, hand syndactyly, and triphalangeal thumb. Autosomal dominant inheritance has been reported. 900000000000017005 3307386014 20220630 0 900000000000207008 716741008 en 900000000000550004 A very rare congenital malformation syndrome with characteristics of bilateral hypoplasia of the tibia and polydactyly of the feet and hands. Prevalence is unknown but the syndrome is very rare with only a few case reports described in the literature. Additional findings include a thickened and/or duplicated fibula, hand syndactyly, and triphalangeal thumb. Autosomal dominant inheritance has been reported. 900000000000017005 3307390011 20160731 1 900000000000207008 716742001 en 900000000000550004 The development of two or more cartilage capped bony outgrowths of the long bones.Develop and increase in size in the first decade of life, ceasing to grow when the growth plates close at puberty. The number may vary significantly within and between families. The majority are asymptomatic and located in bones that develop from cartilage, especially the long bones of the extremities, predominantly around the knee. The most important complication is malignant transformation towards secondary peripheral chondrosarcoma. Germline mutations in EXT1 or EXT2, are found in almost 90% of patients. An autosomal dominant disorder. 900000000000017005 3307396017 20160731 1 900000000000207008 716743006 en 900000000000550004 A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history. 900000000000017005 3307397014 20160731 1 900000000000207008 716743006 en 900000000000550004 A rare hyperthyroidism characterised by mild to severe hyperthyroidism, presence of goitre, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history. 900000000000017005 3307400017 20160731 1 900000000000207008 716744000 en 900000000000550004 The displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce. This congenital malformation is not rare, with an estimated prevalence of 1/1000 births but familial forms account for only 10% of cases. Hypospadias is clinically more or less severe depending on the location of the urethral opening. Familial forms are identified by determining the medical history of the family. 900000000000017005 3307400017 20200731 0 900000000000207008 716744000 en 900000000000550004 The displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce. This congenital malformation is not rare, with an estimated prevalence of 1/1000 births but familial forms account for only 10% of cases. Hypospadias is clinically more or less severe depending on the location of the urethral opening. Familial forms are identified by determining the medical history of the family. 900000000000017005 3307407019 20160731 1 900000000000207008 716745004 en 900000000000550004 A rare non-inflammatory thrombotic vasculopathy predominantly affecting women in young adulthood. Livedo racemosa is a persistent net-like violaceous-cyanotic, mottled discoloration of the skin that is exacerbated by cold or pregnancy. Neurological manifestations include recurrent transient ischemic attacks and infarcts. While about 50% of cases are idiopathic, the disease can be associated with autoimmune diseases like systemic lupus erythematosus and antiphospholipid syndrome. Genetic factors may play a role in the pathogenesis. Loss-of-function mutations in cat eye syndrome chromosome region candidate 1 CECR1 (22q11.2) encoding adenosine deaminase 2 have been found. Most cases are sporadic but some familial cases with an autosomal dominant inheritance have been reported. 900000000000017005 3307408012 20160731 1 900000000000207008 716745004 en 900000000000550004 A rare non-inflammatory thrombotic vasculopathy predominantly affecting women in young adulthood. Livedo racemosa is a persistent net-like violaceous-cyanotic, mottled discolouration of the skin that is exacerbated by cold or pregnancy. Neurological manifestations include recurrent transient ischaemic attacks and infarcts. While about 50% of cases are idiopathic, the disease can be associated with autoimmune diseases like systemic lupus erythematosus and antiphospholipid syndrome. Genetic factors may play a role in the pathogenesis. Loss-of-function mutations in cat eye syndrome chromosome region candidate 1 CECR1 (22q11.2) encoding adenosine deaminase 2 have been found. Most cases are sporadic but some familial cases with an autosomal dominant inheritance have been reported. 900000000000017005 3307412018 20160731 1 900000000000207008 716746003 en 900000000000550004 A rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes. Inherited in an autosomal recessive manner. 900000000000017005 3307413011 20160731 1 900000000000207008 716746003 en 900000000000550004 A rare haemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterised by a haemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes. Inherited in an autosomal recessive manner. 900000000000017005 3307417012 20160731 1 900000000000207008 716747007 en 900000000000550004 Characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit. Less than 10 cases have been reported to date. Defects in renal and intestinal glutamate and aspartate transport were also reported, suggesting that anomalies of the EAAC1 transporter, involved in the transport of these two amino acids, are the underlying cause of this syndrome. 900000000000017005 3307418019 20160731 1 900000000000207008 716747007 en 900000000000550004 Characterized by infantile-onset hypoglycemia and hyperprolinemia associated, in certain cases, with intellectual deficit. Less than 10 cases have been reported to date. Defects in renal and intestinal glutamate and aspartate transport were also reported, suggesting that anomalies of the EAAC1 transporter, involved in the transport of these two amino acids, are the underlying cause of this syndrome. 900000000000017005 3307460015 20160731 1 900000000000207008 715807002 en 900000000000550004 Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia. 900000000000017005 3307461016 20160731 1 900000000000207008 715807002 en 900000000000550004 Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterised by typical CJD features (rapidly progressive dementia, personality/behavioural changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia. 900000000000017005 3307489018 20160731 1 900000000000207008 716766007 en 900000000000550004 A chronic multisystem granulomatous inflammatory disease with manifestation of single or multiple soft plaques on various organs of the body. Can occur in all ages, with a mean age at diagnosis of 50 years old and a female predominance. Cases in children are rare. It is most common in immunodeficient patients with a history of diabetes, transplantation, lymphoma, steroid therapy or alcoholism. Seems to be due to an impaired response to bacterial infection. 900000000000017005 3307497013 20160731 1 900000000000207008 716768008 en 900000000000550004 An anatomic anomaly of the knee with characteristic of abnormal geometry of the femoral part of the patello-femoral joint. It is one of the main factors causing patellar dislocation. Present in 96% of patients with symptomatic patellar dislocation. It is observed in all ages, but is more frequent during childhood and adolescence. The femoral trochlea loses its normal concave anatomy to become flat and sometimes convex with highly asymmetrical facets. This causes a patellar tilt which could lead to patellar dislocation during knee flexion. 900000000000017005 3307497013 20190731 0 900000000000207008 716768008 en 900000000000550004 An anatomic anomaly of the knee with characteristic of abnormal geometry of the femoral part of the patello-femoral joint. It is one of the main factors causing patellar dislocation. Present in 96% of patients with symptomatic patellar dislocation. It is observed in all ages, but is more frequent during childhood and adolescence. The femoral trochlea loses its normal concave anatomy to become flat and sometimes convex with highly asymmetrical facets. This causes a patellar tilt which could lead to patellar dislocation during knee flexion. 900000000000017005 3307509018 20160731 1 900000000000207008 716771000 en 900000000000550004 A rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours.In rare pathological cases, hiccups may last for more than two days. Recurrent episodes over long periods are also called chronic hiccup. Clinical repercussions of these episodes may include dehydration, weight loss and malnutrition due to difficulty eating, sleep disorders, depression and exhaustion. 900000000000017005 3307510011 20160731 1 900000000000207008 716771000 en 900000000000550004 A rare movement disorder characterised by involuntary spasmodic contractions of the inspiratory muscles synchronised with larynx closure lasting for more than 48 hours.In rare pathological cases, hiccups may last for more than two days. Recurrent episodes over long periods are also called chronic hiccup. Clinical repercussions of these episodes may include dehydration, weight loss and malnutrition due to difficulty eating, sleep disorders, depression and exhaustion. 900000000000017005 3307513013 20160731 1 900000000000207008 716772007 en 900000000000550004 A rare benign autosomal dominant disorder of fat tissue proliferation with characteristic of presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984. 900000000000017005 3307517014 20160731 1 900000000000207008 716773002 en 900000000000550004 A rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium. It is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications. 900000000000017005 3307518016 20160731 1 900000000000207008 716773002 en 900000000000550004 A rare congenital heart malformation of unknown aetiology that is characterised by an extremely dilated right atrium. It is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications. 900000000000017005 3307524010 20160731 1 900000000000207008 716774008 en 900000000000550004 A rare inherited skin cancer syndrome with the coexistence of features characteristic of both multiple keratoacanthoma, Ferguson Smith type and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant. 900000000000017005 3307525011 20160731 1 900000000000207008 716774008 en 900000000000550004 A rare inherited skin cancer syndrome with the coexistence of features characteristic of both multiple keratoacanthoma, Ferguson Smith type and generalised eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant. 900000000000017005 3307537013 20160731 1 900000000000207008 716775009 en 900000000000550004 A severe form of microphthalmia with characteristics of a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma. Nanophthalmia is generally bilateral. Strabism is present in most patients. Mutations in the MFRP gene (11q23.1) have been found to be responsible for the hereditary form with recessive transmission. Chromosomal anomalies involving chromosome 11p and 2q11-14 have been identified for autosomal dominant forms of nanophthalmia. It may be inherited as an autosomal dominant or recessive trait, or may occur sporadically. 900000000000017005 3307583019 20160731 1 900000000000207008 716787002 en 900000000000550004 A variant of central neurocytoma, a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behavior. 900000000000017005 3307584013 20160731 1 900000000000207008 716787002 en 900000000000550004 A variant of central neurocytoma, a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behaviour. 900000000000017005 3307599013 20160731 1 900000000000207008 716788007 en 900000000000550004 A rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumor is characterized by an aggressive course and a short survival rate. 900000000000017005 3307600011 20160731 1 900000000000207008 716788007 en 900000000000550004 A rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumour is characterised by an aggressive course and a short survival rate. 900000000000017005 3307614011 20160731 1 900000000000207008 716790008 en 900000000000550004 A rare and severe chronic disease characterized by recurrent chronic eczema mainly affecting seborrheic areas, a generalized fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression. 900000000000017005 3307615012 20160731 1 900000000000207008 716790008 en 900000000000550004 A rare and severe chronic disease characterised by recurrent chronic eczema mainly affecting seborrhoeic areas, a generalised fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression. 900000000000017005 3307803011 20160731 1 900000000000207008 716857003 en 900000000000550004 Rare neuroendocrine neoplasms represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas. Can be either hypersecreting (catecholamines) or non-secreting. There are no validated markers of malignancy (rate around 15%); the only criterion is the presence of metastases. Hereditary disease is caused by mutations in the SDHD, SDHC, SDHB, SDHA and SDHAF2 (or SDH5) genes (11q23, 1q21, 1p36.1-p35, 5p15 and 11q31.1 respectively). Transmission is autosomal dominant. The disease may be fatal, but some have lived with malignant PCC/PGL for 20 years or more. 900000000000017005 3307810017 20160731 1 900000000000207008 716859000 en 900000000000550004 Familial gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer. Familial gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome and Li-Fraumeni syndrome. 900000000000017005 3307815010 20160731 1 900000000000207008 716860005 en 900000000000550004 A parasitic disease caused by Cyclospora cayetanensis, a recently discovered coccidia that was initially described in Peru and then in most intertropical zones. The prevalence is unknown. Infection occurs through ingestion of contaminated food or water and leads to abdominal pain, anorexia and diarrhoea, which may resolve spontaneously in immunocompetent individuals but may persist in a chronic form in immunocompromised subjects, leading to a decline in their general state of health. The diagnosis is made by parasitological examination of the stools. 900000000000017005 3307816011 20160731 1 900000000000207008 716860005 en 900000000000550004 A parasitic disease caused by Cyclospora cayetanensis, a recently discovered coccidia that was initially described in Peru and then in most intertropical zones. The prevalence is unknown. Infection occurs through ingestion of contaminated food or water and leads to abdominal pain, anorexia and diarrhea, which may resolve spontaneously in immunocompetent individuals but may persist in a chronic form in immunocompromised subjects, leading to a decline in their general state of health. The diagnosis is made by parasitological examination of the stools. 900000000000017005 3307823012 20160731 1 900000000000207008 716862002 en 900000000000550004 Proteus like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease. The prevalence is unknown. The main clinical features include skeletal overgrowth, hamartomous overgrowth of multiple tissues, cerebriform connective tissue nevi, vascular malformations and linear epidermal nevi. Mutations in the PTEN gene are found in 50% of Proteus-like syndrome cases, making them a part of the PTEN harmatoma syndrome group. 900000000000017005 3307823012 20200131 0 900000000000207008 716862002 en 900000000000550004 Proteus like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease. The prevalence is unknown. The main clinical features include skeletal overgrowth, hamartomous overgrowth of multiple tissues, cerebriform connective tissue nevi, vascular malformations and linear epidermal nevi. Mutations in the PTEN gene are found in 50% of Proteus-like syndrome cases, making them a part of the PTEN harmatoma syndrome group. 900000000000017005 3307832014 20160731 1 900000000000207008 716864001 en 900000000000550004 Hemorrhagic fever with renal syndrome (HFRS) is a rodent-borne potentially severe hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations. 900000000000017005 3307833016 20160731 1 900000000000207008 716864001 en 900000000000550004 Haemorrhagic fever with renal syndrome (HFRS) is a rodent-borne potentially severe haemorrhagic disease caused by Old World Hantaviruses characterised by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic haemorrhagic manifestations. 900000000000017005 3307837015 20160731 1 900000000000207008 716865000 en 900000000000550004 An infectious embryofetopathy that has been reported to cause spontaneous abortion, stillbirth, malformations and acute systemic illness in the newborn. The clinical manifestations of congenital infection ranges from asymptomatic to benign, febrile to severe illness consisting of variable combinations of sepsis, hepatitis, coagulopathy, myocarditis, pneumonitis and meningoencephalitis. 900000000000017005 3307847017 20160731 1 900000000000207008 716868003 en 900000000000550004 A rare genetic chronic skeletal disorder with characteristics of peripheral osteolysis, interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations. The prevalence and incidence of MONA are not known. Fewer than 50 cases have been reported worldwide. MONA spectrum disorders are caused by mutations in the MMP2 gene (16q13-q21) or MMP14 gene (14q11-q12). Follows an autosomal recessive pattern of inheritance. Many cases are reported in children from consanguineous unions. 900000000000017005 3307850019 20160731 1 900000000000207008 716872004 en 900000000000550004 Administration of antineoplasitic chemotherapeutic agent(s) which may be individual instances or separate times over a pre-determined or planned period of days or weeks. 900000000000017005 3307850019 20200731 0 900000000000207008 716872004 en 900000000000550004 Administration of antineoplasitic chemotherapeutic agent(s) which may be individual instances or separate times over a pre-determined or planned period of days or weeks. 900000000000017005 3307859018 20160731 1 900000000000207008 716871006 en 900000000000550004 An extremely rare type of severe combined immunodeficiency characterized by the classical signs of severe combined immunodeficiency (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes and cell sensitivity to ionizing radiation. 900000000000017005 3307860011 20160731 1 900000000000207008 716871006 en 900000000000550004 An extremely rare type of severe combined immunodeficiency characterised by the classical signs of severe combined immunodeficiency (severe and recurrent infections, diarrhoea, failure to thrive), absence of T and B lymphocytes and cell sensitivity to ionising radiation. 900000000000017005 3307864019 20160731 1 900000000000207008 367336001 en 900000000000550004 The treatment of disease using chemical agents or drugs that are selectively toxic to the causative agent of the disease, such as a virus, bacterium, or other microorganism. 900000000000017005 3308116012 20160731 1 900000000000207008 716994006 en 900000000000550004 A form of frontotemporal dementia characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy. 900000000000017005 3308117015 20160731 1 900000000000207008 716994006 en 900000000000550004 A form of frontotemporal dementia characterised by progressive behavioural impairment and a decline in executive function with frontal lobe-predominant atrophy. 900000000000017005 3308125018 20160731 1 900000000000207008 716996008 en 900000000000550004 A mild to severe congenital X-linked developmental disorder with hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. Primarily affects males. Affected males have varying degrees of hydrocephalus ranging from subclinical to severe. Intellectual deficit ranges from mild to severe. Adducted thumbs are a characteristic feature of the syndrome, present in about 50% of cases. Caused by mutations in the L1CAM gene (Xq28) encoding the L1 cell adhesion molecule that is expressed mainly in the developing nervous system. Inherited in an X-linked manner. 900000000000017005 3308129012 20160731 1 900000000000207008 716997004 en 900000000000550004 Congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. Cognitive abilities are variable, ranging from severe intellectual deficit to normal intelligence. Careful examination of the face shows a characteristic appearance: large head, prominent forehead, high rounded eyebrow. The syndrome is genetically heterogeneous. Seven genes, AHI1 (6q23), NPHP1 (2q13), CEP290 (12q21), TMEM67 (8q22), RPGRIP1L (16q12), ARL13B (3p12.3-q12.3) and CC2D2A (4p15), and two loci on chromosomes 9q34 (JBTS1) and 11p12-q13 (CORS2/JBTS2) have been associated with the disease so far. Transmission is autosomal recessive. 900000000000017005 3308133017 20160731 1 900000000000207008 716998009 en 900000000000550004 The most frequent subtype of Joubert syndrome with manifestation of neurological features of Joubert Syndrome associated with retinal dystrophy. Prevalence is unknown. Age of onset and severity of retinal involvement are variable, ranging from congenital to progressive retinopathy with partial conservation of vision. To date, the most frequently mutated gene in this subtype is AHI1 (6q23.2), which accounts for about 20% of cases, following autosomal recessive inheritance. 900000000000017005 3308140016 20160731 1 900000000000207008 716999001 en 900000000000550004 A rare subtype of Joubert syndrome with manifestation of the neurological features of Joubert Syndrome associated with renal disease, in the absence of retinopathy. Prevalence is unknown. In most cases the renal disease manifests as juvenile nephronophthisis, with onset of clinical symptoms in the late first/early second decade of life, although in rare cases there may be infantile nephronophthisis, with onset in the first years of life. The most commonly mutated genes in this subtype are NPHP1 (2q13) and RPGRIP1L (16q12.2) with autosomal recessive inheritance. 900000000000017005 3308156014 20160731 1 900000000000207008 717003001 en 900000000000550004 A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages. To date, mutations in three genes have been demonstrated; KRIT1, CCM2 and PDCD10, located on chromosome 7q21.2, 7p13, and 3q26.1 respectively, which encode proteins that, among their various functions, modulate junction formation between vascular endothelial cells. Transmitted as an autosomal dominant trait with incomplete penetrance. 900000000000017005 3308157017 20160731 1 900000000000207008 717003001 en 900000000000550004 A rare evolutive vascular malformation disorder characterised by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral haemorrhages. To date, mutations in three genes have been demonstrated; KRIT1, CCM2 and PDCD10, located on chromosome 7q21.2, 7p13, and 3q26.1 respectively, which encode proteins that, among their various functions, modulate junction formation between vascular endothelial cells. Transmitted as an autosomal dominant trait with incomplete penetrance. 900000000000017005 3308171013 20160731 1 900000000000207008 717008005 en 900000000000550004 A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. Onset in the second or third decade has manifestations of ulceration and infection of the feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss. Tendon reflexes are only reduced at ankles and foot deformities including pes cavus or planus and hammer toes, appear in childhood. 900000000000017005 3308177012 20160731 1 900000000000207008 717010007 en 900000000000550004 A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with the association of vocal cord anomalies, impairment of respiratory muscles, sensorineural hearing loss and weakness of hands and feet. Onset is between infancy and the sixth decade. 900000000000017005 3308180013 20160731 1 900000000000207008 717011006 en 900000000000550004 A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with distal weakness primarily and predominantly occurring in the upper limbs.Tendon reflexes are absent or reduced in the arms and decreased in the legs. Progression is slow. 900000000000017005 3308183010 20160731 1 900000000000207008 717012004 en 900000000000550004 A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy. Onset is in the first to sixth decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and after years all patients have a pes cavus. Other signs may be present including hearing loss and postural tremor. 900000000000017005 3308186019 20160731 1 900000000000207008 717013009 en 900000000000550004 A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy. A late onset with severe sensory loss associated with distal weakness mainly of the legs and absent or reduced deep tendon reflexes. 900000000000017005 3308189014 20160731 1 900000000000207008 717014003 en 900000000000550004 A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy. Relatively late onset papillary abnormalities and deafness in most patients associated with distal weakness and muscle atrophy. 900000000000017005 3308195010 20160731 1 900000000000207008 717016001 en 900000000000550004 A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy. Presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor. 900000000000017005 3308250013 20160731 1 900000000000207008 717041008 en 900000000000550004 Refers to cases of recessive X-linked ichthyosis (RXLI) that are associated with extracutaneous manifestations as part of a syndrome. It affects almost exclusively males. Cutaneous manifestations include hyperkeratosis and scaling of the skin. Non cutaneous manifestations may be corneal opacity, late puberty, cryptorchidism and a higher frequency of testicular cancer. Manifestations due to contiguous gene syndrome include neurological abnormalities such as epilepsy and hyposmia, intellectual deficit and/or short stature. Transmission is X-linked recessive. 900000000000017005 3308254016 20160731 1 900000000000207008 717042001 en 900000000000550004 An autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease. Prevalence is unknown. It is characterized by early-onset nystagmus, delayed motor milestones, progressive spasticity, ataxia, and diffuse leukodystrophy on magnetic resonance imaging. 900000000000017005 3308255015 20160731 1 900000000000207008 717042001 en 900000000000550004 An autosomal recessive leucodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease. Prevalence is unknown. It is characterised by early-onset nystagmus, delayed motor milestones, progressive spasticity, ataxia, and diffuse leucodystrophy on magnetic resonance imaging. 900000000000017005 3308258018 20160731 1 900000000000207008 717043006 en 900000000000550004 A life-threatening syndrome with manifestation of progressive and painful skin ulcerations associated with calcification of medium-size and small cutaneous arterial vessels. It affects mainly patients on dialysis or after renal transplantation. 900000000000017005 3308262012 20160731 1 900000000000207008 717044000 en 900000000000550004 Caused by abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide. 900000000000017005 3308263019 20160731 1 900000000000207008 717044000 en 900000000000550004 Caused by abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterised by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycaemia), recurrent episodes of profound hypoglycaemia and resistance to medical management with diazoxide. 900000000000017005 3308266010 20160731 1 900000000000207008 717045004 en 900000000000550004 A form of diazoxide-sensitive diffuse hyperinsulinism characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Usually has a milder phenotype when compared to that resulting from recessive K+ channel mutations. 900000000000017005 3308267018 20160731 1 900000000000207008 717045004 en 900000000000550004 A form of diazoxide-sensitive diffuse hyperinsulinism characterised by hypoglycaemic episodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Usually has a milder phenotype when compared to that resulting from recessive K+ channel mutations. 900000000000017005 3308272010 20160731 1 900000000000207008 717046003 en 900000000000550004 A form of diazoxide-sensitive diffuse hyperinsulinism characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations. 900000000000017005 3308273017 20160731 1 900000000000207008 717046003 en 900000000000550004 A form of diazoxide-sensitive diffuse hyperinsulinism characterised by hypoglycaemic episodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations. 900000000000017005 3308277016 20160731 1 900000000000207008 717047007 en 900000000000550004 Anomaly of bile acid synthesis with manifestation of fat malabsorption, neonatal cholestasis and growth failure. Prevalence is unknown. Only 8 cases have been reported. Patients present with a history of neonatal cholestasis, fat and fat-soluble vitamin malabsorption and growth failure. Several mutations in the bile acid-CoA ligase gene have been found in most patients with this defect. The mode of transmission of these mutations is not known. 900000000000017005 3308281016 20160731 1 900000000000207008 717048002 en 900000000000550004 A form of diazoxide-sensitive diffuse hyperinsulinism characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia, responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1. The disease frequently presents as neonatal hypoglycemia. All patients are responsive to medical management with diazoxide. Family history of diabetes is usually, but not always present. Caused by mutations in HNF4A gene (20q13.12). The transmission is autosomal dominant with variable penetrance. 900000000000017005 3308282011 20160731 1 900000000000207008 717048002 en 900000000000550004 A form of diazoxide-sensitive diffuse hyperinsulinism characterised by macrosomia, transient or persistent hyperinsulinaemic hypoglycaemia, responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1. The disease frequently presents as neonatal hypoglycaemia. All patients are responsive to medical management with diazoxide. Family history of diabetes is usually, but not always present. Caused by mutations in HNF4A gene (20q13.12). The transmission is autosomal dominant with variable penetrance. 900000000000017005 3308286014 20160731 1 900000000000207008 717049005 en 900000000000550004 A rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 with characteristics of pre and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features. It has been described in fewer than 15 patients. Facial dysmorphism includes microcephaly, receding forehead, down-slanting palpebral fissures, ptosis, hypertelorism, low-set malformed ears, smooth philtrum, micrognathia, high-arched palate and a short broad neck. Digital abnormalities include absent fourth and fifth digits, brachydactyly and fifth finger clinodactyly. Genital hypoplasia in males and hypertrichosis are often observed. Intellectual deficit is severe to profound and the prognosis is poor. Trisomy 17p has been reported to be pure, as the result of a de novo 17p duplication or an extra chromosome derived from the 17p arm. 900000000000017005 3308290011 20160731 1 900000000000207008 716863007 en 900000000000550004 A severe subtype of citrin deficiency characterized clinically by adult onset, recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior, seizures and coma. 900000000000017005 3308294019 20160731 1 900000000000207008 717051009 en 900000000000550004 eSuisse Health 900000000000017005 3308294019 20170731 0 900000000000207008 717051009 en 900000000000550004 eSuisse Health 900000000000017005 3308300016 20160731 1 900000000000207008 717052002 en 900000000000550004 A rare subtype of Leigh syndrome with clinical characteristics of encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay. Onset in infancy or early childhood resulting from maternally-inherited mutations in mitochondrial DNA. 900000000000017005 3308303019 20160731 1 900000000000207008 717053007 en 900000000000550004 Describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome and that can be associated with encephalopathy and psychiatric disorders. The prevalence is unknown, several cases have been described, presentation is variable. Most of the characteristics of GRACILE syndrome are present but they are often less severe. Signs of disturbances in iron metabolism have been described. Most infants die during the neonatal period. In those who survive, encephalopathy and psychiatric disorders have been described. This disease is due to different mutations in the BCS1L gene (2q35) encoding a protein essential in the assembly of complex III in the mitochondrial respiratory chain. Inherited autosomal recessively. 900000000000017005 3308306010 20160731 1 900000000000207008 717054001 en 900000000000550004 A rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity. 900000000000017005 3308307018 20160731 1 900000000000207008 717054001 en 900000000000550004 A rare neurological mitochondrial DNA-related disorder characterised clinically by progressive paediatric-onset dystonia with variable degrees of severity. 900000000000017005 3308310013 20160731 1 900000000000207008 717055000 en 900000000000550004 A rare variant of lichen planopilaris with characteristic of symmetrical progressive band-like anterior hair loss of the scalp. Prevalence is unknown. It most commonly affects postmenopausal women, although it has also been reported in men and premenopausal women. Progressive recession of the frontal and temporal hairline is observed. Approximately half of all cases also have eyebrow loss; less often there is hair loss in other parts of the body. It is only very rarely associated with classic lichen planus lesions elsewhere. It is suggested that the disease could have a hormonal origin, but to date the precise cause remains unknown. 900000000000017005 3308325013 20160731 1 900000000000207008 717061002 en 900000000000550004 A rare variant of cutaneous lichen planus with the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body. A rare disease in Europe but it is common in Indian populations and in the Middle East. The overall prevalence is unknown. There is no difference in distribution between males and females. The disease usually appears in the third and fourth decade of life. The lesions are asymptomatic or mildly pruritic. Skin changes are dark brown or slate grey macules or papules with, in most cases, a diffuse pigmentation pattern. They most commonly affect the face, neck and upper limbs. Cause is unknown but various factors (e.g. viral infections and certain topical agents including mustard oil and henna hair dyes) can trigger the disease. 900000000000017005 3308329019 20160731 1 900000000000207008 717062009 en 900000000000550004 Denotes the presence of a lesion on the cervical margin of the tooth that is not caries. 900000000000017005 3308477018 20160731 1 900000000000207008 717129004 en 900000000000550004 Model developed to calculate risk of hereditary breast cancer. 900000000000017005 3308530013 20160731 1 900000000000207008 717050005 en 900000000000550004 A non-syndromic, microcytic/hypochromic sideroblastic anaemia, present from early infancy and characterised by severe microcytic anaemia, which is not pyridoxine responsive, and increased serum ferritin. To date, fewer than 30 unrelated genetically characterised individuals have been reported. Clinical features are those of anaemia and iron overload and include pallor, fatigue, weakness, breathlessness, splenomegaly, hyperglycaemia, glucose intolerance and skin hyperpigmentation. Patients need blood transfusions to survive and do not respond to treatment with pyridoxine. Caused by a homozygous or compound heterozygous mutation in the SLC25A38 gene located on chromosome 3p22.1. The SLC25A38 gene mutation is transmitted as an autosomal recessive trait. 900000000000017005 3308531012 20160731 1 900000000000207008 717050005 en 900000000000550004 A non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin. To date, fewer than 30 unrelated genetically characterized individuals have been reported. Clinical features are those of anemia and iron overload and include pallor, fatigue, weakness, breathlessness, splenomegaly, hyperglycemia, glucose intolerance and skin hyperpigmentation. Patients need blood transfusions to survive and do not respond to treatment with pyridoxine. Caused by a homozygous or compound heterozygous mutation in the SLC25A38 gene located on chromosome 3p22.1. The SLC25A38 gene mutation is transmitted as an autosomal recessive trait. 900000000000017005 3308532017 20160731 1 900000000000207008 716863007 en 900000000000550004 A severe subtype of citrin deficiency characterised clinically by adult onset, recurrent episodes of hyperammonaemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behaviour, seizures and coma. 900000000000017005 3308539014 20160731 1 900000000000207008 717155003 en 900000000000550004 Disorder with clinical characteristics of low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction and hypoglycemia. 900000000000017005 3308540011 20160731 1 900000000000207008 717155003 en 900000000000550004 Disorder with clinical characteristics of low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidaemia, galactosaemia, hypoproteinaemia, hepatomegaly, decreased coagulation factors, haemolytic anaemia, variable but mostly mild liver dysfunction and hypoglycaemia. 900000000000017005 3308542015 20160731 1 900000000000207008 717156002 en 900000000000550004 The association of biliary atresia and splenic abnormalities. Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen. 900000000000017005 3308543013 20160731 1 900000000000207008 717156002 en 900000000000550004 The association of biliary atresia and splenic abnormalities. Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterised by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anaemia and often palpable spleen. 900000000000017005 3308546017 20160731 1 900000000000207008 717157006 en 900000000000550004 A syndrome of mental retardation/multiple congenital malformations that is caused by the total or partial duplication of the short arm of chromosome 10. Around 50 cases have been described in the literature. The anomalies are present at birth. Children are usually dolichocephalic with a high and prominent forehead, contrasting with a small face. Osteoarticular anomalies are frequent, including ligament hyperlaxity, flexion deformations of limbs, and club feet. Cardiac, renal, ocular and bone malformations have been reported. The majority of cases are a result of the malsegregation of a familial balanced translocation. The most frequent break point is located at the level of p11 band, but it can be more distal and result in partial trisomy. 900000000000017005 3308549012 20160731 1 900000000000207008 717158001 en 900000000000550004 A severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility. The mode of transmission follows a Y-linked pattern, with incomplete penetrance, but as deletions are often associated with infertility, they generally occur de novo. Molecular diagnosis is made by PCR amplification of STS type sequences (sequence-tagged sites) from the AZFa, b, and c regions. All chromosome Y deletions do not necessarily lead to infertility: firstly, some deletions (especially some partial deletions) do not result in spermatogenesis defects; secondly, among men with severe oligospermia, some can father children without infertility treatment. Finally, when mature spermatozoa are found in the sperm or in the testicles, the infertility problem can be solved with medically assisted procreation techniques. However, there is a risk of transmitting the microdeletion to every male infant. 900000000000017005 3308605016 20160731 1 900000000000207008 717181004 en 900000000000550004 An autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay. 900000000000017005 3308607012 20160731 1 900000000000207008 716857003 en 900000000000550004 Rare neuroendocrine neoplasms represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and phaeochromocytomas. Can be either hypersecreting (catecholamines) or non-secreting. There are no validated markers of malignancy (rate around 15%); the only criterion is the presence of metastases. Hereditary disease is caused by mutations in the SDHD, SDHC, SDHB, SDHA and SDHAF2 (or SDH5) genes (11q23, 1q21, 1p36.1-p35, 5p15 and 11q31.1 respectively). Transmission is autosomal dominant. The disease may be fatal, but some have lived with malignant PCC/PGL for 20 years or more. 900000000000017005 3308611018 20160731 1 900000000000207008 717182006 en 900000000000550004 A form of diazoxide-sensitive diffuse hyperinsulinism caused by a lowered threshold for insulin release. Characterized by excessive/uncontrolled insulin secretion and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Activating mutations of GCK (7p15.3-p15.1) that encodes glucokinase have been identified as the cause. 900000000000017005 3308612013 20160731 1 900000000000207008 717182006 en 900000000000550004 A form of diazoxide-sensitive diffuse hyperinsulinism caused by a lowered threshold for insulin release. Characterised by excessive/uncontrolled insulin secretion and recurrent episodes of profound hypoglycaemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Activating mutations of GCK (7p15.3-p15.1) that encodes glucokinase have been identified as the cause. 900000000000017005 3308618012 20160731 1 900000000000207008 717183001 en 900000000000550004 A diffuse palmoplantar keratoderma with manifestation of honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness.Follows an autosomal dominant mode of transmission. 900000000000017005 3308623012 20160731 1 900000000000207008 717184007 en 900000000000550004 A very rare hereditary skin disease with manifestation of irregularly distributed epidermal hyperkeratosis of the palms and soles. Reported in 35 families worldwide to date. The lesions usually start to develop in early adolescence but can also present later in life. Mutations in the AAGAB gene (15q22.33-q23) have recently been identified as one of the causes. Mutations in the COL14A1 gene (8q23) have also been identified as causal in some cases in Asia that seem to have a similar phenotype 900000000000017005 3308628015 20160731 1 900000000000207008 717185008 en 900000000000550004 An extremely rare fatal neurometabolic developmental disorder with clinical characteristics of muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly. 900000000000017005 3308638013 20160731 1 900000000000207008 717187000 en 900000000000550004 This syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child. 900000000000017005 3308648010 20160731 1 900000000000207008 717191005 en 900000000000550004 A heterogeneous entity. Its prevalence in the general population is unknown. Nephrotic syndrome has manifestations of marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema. Familial forms are in most cases related to podocyte protein structural anomalies. Other forms result from a totally different mechanism, which has not yet been elucidated. One of the proposed hypotheses suggests that cells from the immune system could produce one or several circulating factors, which would increase the glomerular permeability to proteins. In some cases, immunosuppressive drugs, in particular cyclosporin, can prove beneficial. However, the progression to end-stage renal failure is frequent. In this case, there is a risk of nephrotic syndrome recurrence after kidney transplant. 900000000000017005 3308648010 20200731 0 900000000000207008 717191005 en 900000000000550004 A heterogeneous entity. Its prevalence in the general population is unknown. Nephrotic syndrome has manifestations of marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema. Familial forms are in most cases related to podocyte protein structural anomalies. Other forms result from a totally different mechanism, which has not yet been elucidated. One of the proposed hypotheses suggests that cells from the immune system could produce one or several circulating factors, which would increase the glomerular permeability to proteins. In some cases, immunosuppressive drugs, in particular cyclosporin, can prove beneficial. However, the progression to end-stage renal failure is frequent. In this case, there is a risk of nephrotic syndrome recurrence after kidney transplant. 900000000000017005 3308651015 20160731 1 900000000000207008 717192003 en 900000000000550004 Syndrome with the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant. 900000000000017005 3308652010 20160731 1 900000000000207008 717191005 en 900000000000550004 A heterogeneous entity. Its prevalence in the general population is unknown. Nephrotic syndrome has manifestations of marked proteinuria, with reduced plasmatic levels of albumin, and potentially with edema. Familial forms are in most cases related to podocyte protein structural anomalies. Other forms result from a totally different mechanism, which has not yet been elucidated. One of the proposed hypotheses suggests that cells from the immune system could produce one or several circulating factors, which would increase the glomerular permeability to proteins. In some cases, immunosuppressive drugs, in particular cyclosporin, can prove beneficial. However, the progression to end-stage renal failure is frequent. In this case, there is a risk of nephrotic syndrome recurrence after kidney transplant. 900000000000017005 3308652010 20200731 0 900000000000207008 717191005 en 900000000000550004 A heterogeneous entity. Its prevalence in the general population is unknown. Nephrotic syndrome has manifestations of marked proteinuria, with reduced plasmatic levels of albumin, and potentially with edema. Familial forms are in most cases related to podocyte protein structural anomalies. Other forms result from a totally different mechanism, which has not yet been elucidated. One of the proposed hypotheses suggests that cells from the immune system could produce one or several circulating factors, which would increase the glomerular permeability to proteins. In some cases, immunosuppressive drugs, in particular cyclosporin, can prove beneficial. However, the progression to end-stage renal failure is frequent. In this case, there is a risk of nephrotic syndrome recurrence after kidney transplant. 900000000000017005 3308718016 20160731 1 900000000000207008 717222003 en 900000000000550004 This syndrome has characteristics of microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. It is transmitted as an X-linked recessive trait and the causative gene is localized to the Xq27-q28 region. 900000000000017005 3308722014 20160731 1 900000000000207008 717223008 en 900000000000550004 This syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behavior. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12). 900000000000017005 3308723016 20160731 1 900000000000207008 717223008 en 900000000000550004 This syndrome is characterised by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12). 900000000000017005 3308727015 20160731 1 900000000000207008 717224002 en 900000000000550004 An extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmented skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature. 900000000000017005 3308728013 20160731 1 900000000000207008 717224002 en 900000000000550004 An extremely rare skin disease described in only four families to date and characterised in males by diffuse reticulate brown hyperpigmented skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localised brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature. 900000000000017005 3308734018 20160731 1 900000000000207008 717225001 en 900000000000550004 An inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia. Usually presents in the second decade of life with a minor cortical hand tremor. Mapped to at least 4 different chromosomal loci. Transmitted autosomal dominantly and penetrance is high 900000000000017005 3308735017 20160731 1 900000000000207008 717225001 en 900000000000550004 An inherited epileptic syndrome characterised by cortical hand tremors, myoclonic jerks and occasional generalised or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia. Usually presents in the second decade of life with a minor cortical hand tremor. Mapped to at least 4 different chromosomal loci. Transmitted autosomal dominantly and penetrance is high 900000000000017005 3308746019 20160731 1 900000000000207008 717228004 en 900000000000550004 The presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive. 900000000000017005 3308757012 20160731 1 900000000000207008 717231003 en 900000000000550004 An auto inflammatory syndrome with characteristics of recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis. Usually presents during early childhood with recurrent episodes of fever during which children appear very ill. Aphthous stomatitis presents with relatively painless small, round and shallow lesions on the tongue and oral mucosa that recover completely in 10-14 days. Most patients present with tonsillitis, occasionally with white exudates and a general pharyngitis. Episodes recur every 3-5 weeks, often in a predictable fashion with patients describing a mild malaise the day before recurrence. An idiopathic inflammatory condition. 900000000000017005 3308764014 20160731 1 900000000000207008 717222003 en 900000000000550004 This syndrome has characteristics of microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. It is transmitted as an X-linked recessive trait and the causative gene is localised to the Xq27-q28 region. 900000000000017005 3308767019 20160731 1 900000000000207008 717232005 en 900000000000550004 A rare congenital disorder characterized by multifocal, segmental dilatation of the large intrahepatic bile ducts. It may present at any age and predominantly affects females. Less than 250 cases have been described worldwide. Caroli disease is characterized by bile ductal ectasia without other apparent hepatic abnormalities. It presents with recurrent bacterial cholangitis, biliary stones causing biliary pain or episodes of pancreatitis. The more common variant of this disease, named Caroli syndrome, is characterized by dilatations of the large bile duct associated with congenital hepatic fibrosis. The etiology of Caroli disease is unknown and its occurrence is sporadic, whereas Caroli syndrome is generally inherited in an autosomal recessive manner. 900000000000017005 3308768012 20160731 1 900000000000207008 717232005 en 900000000000550004 A rare congenital disorder characterised by multifocal, segmental dilatation of the large intrahepatic bile ducts. It may present at any age and predominantly affects females. Less than 250 cases have been described worldwide. Caroli disease is characterised by bile ductal ectasia without other apparent hepatic abnormalities. It presents with recurrent bacterial cholangitis, biliary stones causing biliary pain or episodes of pancreatitis. The more common variant of this disease, named Caroli syndrome, is characterised by dilatations of the large bile duct associated with congenital hepatic fibrosis. The aetiology of Caroli disease is unknown and its occurrence is sporadic, whereas Caroli syndrome is generally inherited in an autosomal recessive manner. 900000000000017005 3308830016 20160731 1 900000000000207008 718362003 en 900000000000550004 The occurrence of abnormal involuntary movements that are incongruent with a known neurologic cause and are significantly improved on neurological exam with distraction or non-physiologic maneuvers. The disorder is defined by its clinical appearance, rather than by any causative speculation. 900000000000017005 3308837018 20160731 1 900000000000207008 717253001 en 900000000000550004 Description of the quality and intensity of pain as experienced. 900000000000017005 3308841019 20160731 1 900000000000207008 717254007 en 900000000000550004 An inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. Not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. All families identified so far have mutations in the ABCB6 gene (2q36), leading to an inherited abnormality in the movement of ions across the red cell membrane, such that when the red cells are cooled they lose potassium into the plasma. Inherited as an autosomal dominant trait. The prognosis is excellent most patients remain asymptomatic. 900000000000017005 3308842014 20160731 1 900000000000207008 717254007 en 900000000000550004 An inherited, mild, non-haemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. Not associated with additional haematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. All families identified so far have mutations in the ABCB6 gene (2q36), leading to an inherited abnormality in the movement of ions across the red cell membrane, such that when the red cells are cooled they lose potassium into the plasma. Inherited as an autosomal dominant trait. The prognosis is excellent most patients remain asymptomatic. 900000000000017005 3308845011 20160731 1 900000000000207008 717255008 en 900000000000550004 An acquired from of intestinal lymphangiectasia manifesting as a protein-losing enteropathy due to another disorder such as Crohn’s disease, congestive heart failure, sarcoidosis, Turner syndrome and often in patients who have undergone a Fontan operation. It is characterized by malabsorption, diarrhea, edema due hypoproteinemia, steatorrhea and serosal effusions. 900000000000017005 3308845011 20210131 0 900000000000207008 717255008 en 900000000000550004 An acquired from of intestinal lymphangiectasia manifesting as a protein-losing enteropathy due to another disorder such as Crohn’s disease, congestive heart failure, sarcoidosis, Turner syndrome and often in patients who have undergone a Fontan operation. It is characterized by malabsorption, diarrhea, edema due hypoproteinemia, steatorrhea and serosal effusions. 900000000000017005 3308846012 20160731 1 900000000000207008 717255008 en 900000000000550004 An acquired from of intestinal lymphangiectasia manifesting as a protein-losing enteropathy due to another disorder such as Crohn’s disease, congestive heart failure, sarcoidosis, Turner syndrome and often in patients who have undergone a Fontan operation. It is characterised by malabsorption, diarrhoea, oedema due hypoproteinaemia, steatorrhoea and serosal effusions. 900000000000017005 3308846012 20210131 0 900000000000207008 717255008 en 900000000000550004 An acquired from of intestinal lymphangiectasia manifesting as a protein-losing enteropathy due to another disorder such as Crohn’s disease, congestive heart failure, sarcoidosis, Turner syndrome and often in patients who have undergone a Fontan operation. It is characterised by malabsorption, diarrhoea, oedema due hypoproteinaemia, steatorrhoea and serosal effusions. 900000000000017005 3308857019 20160731 1 900000000000207008 717257000 en 900000000000550004 A rare form of localized lichen myxedematosus characterized by the development of skin-colored mucinous nodules on the limbs and trunk, with mild or absent papular eruption. 900000000000017005 3308858012 20160731 1 900000000000207008 717257000 en 900000000000550004 A rare form of localised lichen myxoedematosus characterised by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption. 900000000000017005 3308862018 20160731 1 900000000000207008 717258005 en 900000000000550004 Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus characterized by the development of a few to multiple small symmetrical skin-colored mucinous papules on the limbs and trunk. 900000000000017005 3308863011 20160731 1 900000000000207008 717258005 en 900000000000550004 Discrete papular lichen myxoedematosus is a rare chronic, slowly progressive form of localised lichen myxoedematosus characterised by the development of a few to multiple small symmetrical skin-coloured mucinous papules on the limbs and trunk. 900000000000017005 3308866015 20160731 1 900000000000207008 717259002 en 900000000000550004 Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk. 900000000000017005 3308867012 20160731 1 900000000000207008 717259002 en 900000000000550004 Papular mucinosis of infancy is a rare paediatric non progressive form of localised lichen myxoedematosus characterised by the development of firm opalescent mucinous papules on the upper arms and the trunk. 900000000000017005 3308871010 20160731 1 900000000000207008 717260007 en 900000000000550004 One of the most severe forms of congenital adrenal hyperplasia, it is extremely rare. Congenital anomalies are typically seen in the perinatal period. Boys are not virilized and demonstrate a complete girl phenotype. The external genitalia of girls are normal. Hypoglycemic seizures, vomiting or symptoms of dehydration are common manifestations. This disease is due to a mutation in the STAR gene, which encodes for a protein that regulates steroid hormone synthesis. The disease follows an autosomal recessive pattern of inheritance. 900000000000017005 3308872015 20160731 1 900000000000207008 717260007 en 900000000000550004 One of the most severe forms of congenital adrenal hyperplasia, it is extremely rare. Congenital anomalies are typically seen in the perinatal period. Boys are not virilised and demonstrate a complete girl phenotype. The external genitalia of girls are normal. Hypoglycaemic seizures, vomiting or symptoms of dehydration are common manifestations. This disease is due to a mutation in the STAR gene, which encodes for a protein that regulates steroid hormone synthesis. The disease follows an autosomal recessive pattern of inheritance. 900000000000017005 3308875018 20160731 1 900000000000207008 717261006 en 900000000000550004 The most common form of congenital adrenal hyperplasia, divided into 2 clinical groups simple virilizing or salt wasting forms. Manifests with genital ambiguity in females and with adrenal insufficiency in both sexes. Girls present with ambiguous genitalia and the extent of virilization can vary from a nearly male appearance to minimal clitoromegaly. A normal uterus and various degrees of abnormal vaginal development are seen. The external genitalia in boys are normal. The disease is caused by a mutation in the CYP21A2 gene located on chromosome 6p21.3. Follows an autosomal recessive pattern of inheritance. 900000000000017005 3308876017 20160731 1 900000000000207008 717261006 en 900000000000550004 The most common form of congenital adrenal hyperplasia, divided into 2 clinical groups simple virilising or salt wasting forms. Manifests with genital ambiguity in females and with adrenal insufficiency in both sexes. Girls present with ambiguous genitalia and the extent of virilisation can vary from a nearly male appearance to minimal clitoromegaly. A normal uterus and various degrees of abnormal vaginal development are seen. The external genitalia in boys are normal. The disease is caused by a mutation in the CYP21A2 gene located on chromosome 6p21.3. Follows an autosomal recessive pattern of inheritance. 900000000000017005 3308879012 20160731 1 900000000000207008 717262004 en 900000000000550004 Deficient lacrimation ranging from a complete absence of tears to hyposecretion of tears that is present from birth. Prevalence is unknown. Transmission is usually autosomal recessive, but dominant transmission has also been described. Artificial tears are the first treatment option, needed to avoid corneal sequelae. 900000000000017005 3308882019 20160731 1 900000000000207008 717263009 en 900000000000550004 A renal tubulopathy characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants. 900000000000017005 3308883012 20160731 1 900000000000207008 717263009 en 900000000000550004 A renal tubulopathy characterised by renal tubular resistance to aldosterone, characterised by hyponatraemia, metabolic acidosis and hyperkalaemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants. 900000000000017005 3308887013 20160731 1 900000000000207008 717264003 en 900000000000550004 A relatively severe form of brachyolmia with characteristics of short-trunk short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease in the spine, large joints and interphalangeal joints becomes manifest in adulthood. The precise prevalence of this form of brachyolmia is not known. About 30 cases have been reported. Patients with Brachyolmia type 3 generally have a normal birth weight and length. Heterozygous mutations in the TRPV4 gene (12q24.11) are responsible. Autosomal dominant mode of inheritance. 900000000000017005 3308897016 20160731 1 900000000000207008 717266001 en 900000000000550004 This syndrome has characteristics of adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia. The prevalence is unknown. Other common features include progressive gait unsteadiness, absent deep tendon reflexes, the presence of Romberg's sign, a decreased sense of vibration and proprioception and detection of red ragged fibres on muscle biopsy. The syndrome is associated with mitochondrial DNA mutations in either the POLG1 or TWINKLE genes. 900000000000017005 3308901010 20160731 1 900000000000207008 717267005 en 900000000000550004 Compression of the left renal vein between the superior mesenteric artery and the abdominal aorta causing an increase in the pressure gradient between the left renal vein and the inferior vena cava. The thin septae between the veins and the collecting system in the renal fornices rupture, with resultant left sided haematuria. Most symptomatic cases present in the third or fourth decade of life, with women being more commonly affected than men. Three types of renal nutcracker syndrome have been defined: anterior nutcracker syndrome, posterior nutcracker syndrome and combined nutcracker syndrome. 900000000000017005 3308902015 20160731 1 900000000000207008 717267005 en 900000000000550004 Compression of the left renal vein between the superior mesenteric artery and the abdominal aorta causing an increase in the pressure gradient between the left renal vein and the inferior vena cava. The thin septae between the veins and the collecting system in the renal fornices rupture, with resultant left sided hematuria. Most symptomatic cases present in the third or fourth decade of life, with women being more commonly affected than men. Three types of renal nutcracker syndrome have been defined: anterior nutcracker syndrome, posterior nutcracker syndrome and combined nutcracker syndrome. 900000000000017005 3308909012 20160731 1 900000000000207008 717269008 en 900000000000550004 Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function. MC4R is a G protein-coupled receptor involved in the hypothalamic leptin-melanocortin signalling pathway. Activation of the MC4R plays a key role in the maintenance of energy homeostasis and is associated with suppression of food intake. 900000000000017005 3308910019 20160731 1 900000000000207008 717269008 en 900000000000550004 Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterized by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinemia, in the presence of preserved reproductive function. MC4R is a G protein-coupled receptor involved in the hypothalamic leptin-melanocortin signalling pathway. Activation of the MC4R plays a key role in the maintenance of energy homeostasis and is associated with suppression of food intake. 900000000000017005 3308930015 20160731 1 900000000000207008 717276003 en 900000000000550004 A very rare neonatal epileptic encephalopathy disorder with clinical characteristics of myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid. 900000000000017005 3308931016 20160731 1 900000000000207008 717276003 en 900000000000550004 A very rare neonatal epileptic encephalopathy disorder with clinical characteristics of myoclonic and clonic, or clonic seizures associated with apnoea occurring several hours to 5 days after birth and responding to folinic acid. 900000000000017005 3309030011 20160731 1 900000000000207008 717186009 en 900000000000550004 An intestinal disease characterized by an overproduction of bile acids due to a synthesis defect which leads to chronic watery diarrhea. 900000000000017005 3309031010 20160731 1 900000000000207008 717186009 en 900000000000550004 An intestinal disease characterised by an overproduction of bile acids due to a synthesis defect which leads to chronic watery diarrhoea. 900000000000017005 3309065011 20160731 1 900000000000207008 717329009 en 900000000000550004 A rare benign tumor-like lesion. Approximately 140 cases have been reported worldwide, with a higher prevalence for male adults of Asian origin and subjects affected by systemic diseases such as rheumatoid arthritis. There are two clinical presentations. The active form most commonly manifests with abdominal pain, fever and loss of body weight. The second form is usually clinically silent. The etiopathogenesis remains unclear. 900000000000017005 3309066012 20160731 1 900000000000207008 717329009 en 900000000000550004 A rare benign tumour-like lesion. Approximately 140 cases have been reported worldwide, with a higher prevalence for male adults of Asian origin and subjects affected by systemic diseases such as rheumatoid arthritis. There are two clinical presentations. The active form most commonly manifests with abdominal pain, fever and loss of body weight. The second form is usually clinically silent. The aetiopathogenesis remains unclear. 900000000000017005 3309069017 20160731 1 900000000000207008 717330004 en 900000000000550004 Syndrome with characteristics of disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment. The syndrome has been described among Venezuelan Indians of the Yukpa (Irapa) tribe and three siblings from a Mexican mestizo family. Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified. 900000000000017005 3309072012 20160731 1 900000000000207008 717331000 en 900000000000550004 A very rare inherited form of thyroglossal duct cyst (TDC) with characteristics of a mass measuring 3cm in diameter or less in the midline area of the neck. 900000000000017005 3309076010 20160731 1 900000000000207008 717332007 en 900000000000550004 Cerebellar ataxia Cayman type has characteristics of psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia. The prevalence is unknown, but the disorder is very rare in the general population. However, a founder mutation has led to a high incidence in the Cayman island population. The disorder is transmitted as an autosomal recessive trait and is caused by mutations in the ATCAY gene (19p13.3), encoding Caytaxin. 900000000000017005 3309080017 20160731 1 900000000000207008 717333002 en 900000000000550004 A type of transient congenital hypothyroidism a thyroid hormone deficiency that is not permanent. Patients may present with symptoms similar to those of permanent congenital hypothyroidism or they may be asymptomatic. It is caused by the transfer of maternal thyroid stimulating hormone (TSH) blocking antibodies, which can block the TSH receptor in the neonatal thyroid resulting in hypothyroidism in the infant. The effect can last up to 3-6 months after birth as maternal antibody levels fall. Treatment with l-thyroxine is usually required during this period. 900000000000017005 3309083015 20160731 1 900000000000207008 717334008 en 900000000000550004 Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism whose cause and prevalence are unknown. Clinical manifestations are those of other forms of congenital hypothyroidism. Goiter is always absent. Ultrasound examination and thyroid scintigraphy show a thyroid gland of normal shape and size in the normal, eutopic location. Idiopathic congenital hypothyroidism can be diagnosed after exclusion of the known causes of congenital hypothyroidism. 900000000000017005 3309084014 20160731 1 900000000000207008 717334008 en 900000000000550004 Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism whose cause and prevalence are unknown. Clinical manifestations are those of other forms of congenital hypothyroidism. Goitre is always absent. Ultrasound examination and thyroid scintigraphy show a thyroid gland of normal shape and size in the normal, eutopic location. Idiopathic congenital hypothyroidism can be diagnosed after exclusion of the known causes of congenital hypothyroidism. 900000000000017005 3309089016 20160731 1 900000000000207008 717335009 en 900000000000550004 Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. The disorder has manifestations of facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies. Most patients present a moderate intellectual deficit with some patients having a normal intelligence. Mosaic trisomy 8 is the result of a post-zygotic event. 900000000000017005 3309095015 20160731 1 900000000000207008 717336005 en 900000000000550004 One of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life associated with optic disc pallor, visual field and color vision defects. Later onset is possible. Visual impairment is usually moderate but may range from mild to severe. In about 20% of cases, extra-ocular signs are present, such as sensorineural hearing loss or other more severe neurological signs. Transmission is autosomal dominant with a penetrance of 50%. 900000000000017005 3309096019 20160731 1 900000000000207008 717336005 en 900000000000550004 One of the most common forms of hereditary optic neuropathy characterised by progressive bilateral visual loss during the first decade of life associated with optic disc pallor, visual field and colour vision defects. Later onset is possible. Visual impairment is usually moderate but may range from mild to severe. In about 20% of cases, extra-ocular signs are present, such as sensorineural hearing loss or other more severe neurological signs. Transmission is autosomal dominant with a penetrance of 50%. 900000000000017005 3309101019 20160731 1 900000000000207008 717337001 en 900000000000550004 Syndromic orbital border hypoplasia is a rare disorder observed in two families to date with characteristics of agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct. 900000000000017005 3309104010 20160731 1 900000000000207008 717338006 en 900000000000550004 A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and friendly/amiable behavior. Abnormal hair pigmentation and texture is also frequent. Short stature, pectus excavatum, spine anomalies, dislocation of the hip, long slender fingers and slender lower limbs, and positional deformities of the hands/feet have also been reported. In all patients, global psychomotor developmental delay is noted from an early age. The recurrent 17q21.31 deletion encompasses at least six genes: C17orf69, CRHR1, IMP5, MAPT, STH and KIAA1267. 900000000000017005 3309105011 20160731 1 900000000000207008 717338006 en 900000000000550004 A chromosomal anomaly characterised by developmental delay, childhood hypotonia, facial dysmorphism, and friendly/amiable behaviour. Abnormal hair pigmentation and texture is also frequent. Short stature, pectus excavatum, spine anomalies, dislocation of the hip, long slender fingers and slender lower limbs, and positional deformities of the hands/feet have also been reported. In all patients, global psychomotor developmental delay is noted from an early age. The recurrent 17q21.31 deletion encompasses at least six genes: C17orf69, CRHR1, IMP5, MAPT, STH and KIAA1267. 900000000000017005 3309176013 20160731 1 900000000000207008 717256009 en 900000000000550004 Hypotrichosis simplex of the scalp (HSS) has manifestation of diffuse progressive hair loss that is confined to the scalp. Prevalence is unknown but HSS has been described in multiple members (males and females) of several large families. Progressive hair loss generally begins during the first decade of life and most patients are completely bald by the third decade of life. Body, axillary and facial hair, as well as the eyebrows and eyelashes are unaffected. There are no anomalies of the skin, nails and teeth. The causative gene CDSN (encoding the keratinocyte adhesion molecule, corneodesmosin) has been mapped to chromosome 6p21.3. Transmitted in an autosomal dominant manner. 900000000000017005 3309178014 20160731 1 900000000000207008 717360009 en 900000000000550004 Pili bifurcati is an uncommon transitory hair shaft dysplasia with characteristic of segmental duplication of the hair shaft. Patients generally present with diffuse alopecia. Hypopigmentation can be observed. This anomaly of the hair shaft occurs in normal hair, pili canaliculi, or monilethrix and has been associated with the mosaic trisomy 8 syndrome, pseudomonilethrix type II or protein deficiency states. It can also be secondary to ulcerative colitis and extensive bowel resection. Caused by a transient duplication of the papilla's tip during the anagen phase, leading to the transitory production a two complete shafts, in the same follicular matrix, that emerge through a single pilary canal. When the two papilla tips fuse, both parallel branches form a single shaft again. When the transient duplication of the papilla tip occurs repetitively during the anagen phase, a series of bifurcation-fusion can be observed along the shaft. This situation is called pili multi-bifurcati. As a duplicated papilla tip can split again, a doubly bifurcated shaft may be observed: pili bi-bifurcati. 900000000000017005 3309287011 20160731 1 900000000000207008 717407006 en 900000000000550004 Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency. Both partial and total PAI-1 deficiencies are extremely rare disorders. PAI-1 is the physiological inhibitor of tissue-type plasminogen activator (t-PA), the main source of intravascular fibrinolysis. Affected patients carry one (heterozygote) or two (homozygote) alleles with a mutation in the SERPINE1 gene (7q22.1), resulting in partial or total antigenic PAI-1 deficiency. Transmitted as autosomal recessive traits. 900000000000017005 3309288018 20160731 1 900000000000207008 717407006 en 900000000000550004 Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterised by premature lysis of haemostatic clots and a moderate bleeding tendency. Both partial and total PAI-1 deficiencies are extremely rare disorders. PAI-1 is the physiological inhibitor of tissue-type plasminogen activator (t-PA), the main source of intravascular fibrinolysis. Affected patients carry one (heterozygote) or two (homozygote) alleles with a mutation in the SERPINE1 gene (7q22.1), resulting in partial or total antigenic PAI-1 deficiency. Transmitted as autosomal recessive traits. 900000000000017005 3309415014 20160731 1 900000000000207008 717459000 en 900000000000550004 An idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing. Prevalence is unknown, but is the second most common cause of neonatal hydronephrosis. About half of cases are asymptomatic and are discovered on routine antenatal ultrasound. The cause is unknown but it may be due to high fetal urine outflow, changes in the ureter pre and postnatal or transient anatomical obstructions that improve with postnatal development, such as ureteral folds. Not known to be hereditary, but families with more than one affected member have been described. 900000000000017005 3309869018 20160731 1 900000000000207008 717632002 en 900000000000550004 A severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. 900000000000017005 3309876011 20160731 1 900000000000207008 717633007 en 900000000000550004 A chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-esophageal and urogenital anomalies. 900000000000017005 3309877019 20160731 1 900000000000207008 717633007 en 900000000000550004 A chromosomal anomaly characterised by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophageal and urogenital anomalies. 900000000000017005 3310288017 20160731 1 900000000000207008 718132003 en 900000000000550004 Navigational concept for more specifically defined nerve blocks blocking thoracic intercostal nerves, long thoracic nerve and thoracodorsal nerve. Typically performed by ultrasound guided placement into plane between pectoralis minor and serratus anterior. 900000000000017005 3310372019 20170131 1 900000000000207008 717761005 en 900000000000550004 An X-linked retinal dystrophy, characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state. 900000000000017005 3310377013 20170131 1 900000000000207008 717761005 en 900000000000550004 An X-linked retinal dystrophy, characterised by choroideraemia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideraemia carrier state. 900000000000017005 3310398013 20170131 1 900000000000207008 717763008 en 900000000000550004 An X-linked mental retardation syndrome belonging to the group of conditions with the association of intellectual deficit with hypotonic facies. Prevalence is unknown but the syndrome was first described in 1988 in three males (a 3-year-old boy and his two maternal uncles) from a family in which two other males had died in infancy/childhood. All affected males had a characteristic facies (bitemporal narrowness, almond-shaped palpebral fissures, depressed nasal bridge, anteverted nares, short and inverted-V-shaped upper lip and macrostomia). The surviving patients also had severe intellectual deficit, short stature, mild obesity, hypogonadism and a low total finger ridge count. The syndrome is caused by missense mutations in the ATRX gene (Xq13.3). Inheritance is X-linked recessive. 900000000000017005 3310430016 20170131 1 900000000000207008 717765001 en 900000000000550004 A syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O). It has been described in six unrelated patients. Capillary malformation of the lower lip is observed in all patients. The overgrowth was noted at birth in three patients but was generalized in only one patient; it was partial in the other patients and involved one or more body segments. Inheritance of this association is not known. 900000000000017005 3310436010 20170131 1 900000000000207008 717765001 en 900000000000550004 A syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalised overgrowth (O). It has been described in six unrelated patients. Capillary malformation of the lower lip is observed in all patients. The overgrowth was noted at birth in three patients but was generalised in only one patient; it was partial in the other patients and involved one or more body segments. Inheritance of this association is not known. 900000000000017005 3310440018 20170131 1 900000000000207008 717771007 en 900000000000550004 This syndrome has characteristics of cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. It has been described in three siblings from one family. Dysmorphic features include protruding forehead, hypertelorism, broad nasal bridge, wide anterior fontanelle and short philtrum, down turning mouth, micrognathia and low-set ears. The limbs show rhizomelic shortening. Additional malformations are not constant: omphalocele, bilateral microphthalmia, cataract, narrow chest, ambiguous genitalia, cardiac ventricular septal defect and agenesis of the corpus callosum. The condition seems to be inherited as an autosomal recessive trait. Prognosis is poor. 900000000000017005 3310443016 20160731 1 900000000000207008 717799003 en 900000000000550004 A rare balance disorder with characteristic of auditory and/or vestibular symptoms. This condition is caused by an opening (dehiscence) in the bone that overlays the superior semicircular canal within the inner ear. 900000000000017005 3310496013 20160731 1 900000000000207008 312901001 en 900000000000550004 The following must be present on at least one OCT (Optical coherence tomography ) scan image: (i) Partial vitreous detachment as indicated by elevation of cortical vitreous above the retinal surface in the perifoveal area (ii) Persistent vitreous attachment. 900000000000017005 3310496013 20200131 0 900000000000207008 312901001 en 900000000000550004 The following must be present on at least one OCT (Optical coherence tomography ) scan image: (i) Partial vitreous detachment as indicated by elevation of cortical vitreous above the retinal surface in the perifoveal area (ii) Persistent vitreous attachment. 900000000000017005 3310517015 20170131 1 900000000000207008 717772000 en 900000000000550004 A multiple congenital anomalies syndrome with characteristics of cerebral, ocular, dental, auricular and skeletal anomalies. To date, three affected children (an unrelated Canadian girl and boy of Mennonite descent, and a girl from Brazil) have been reported. Characteristic features consist of psychomotor delay, cataracts, abnormally shaped teeth (including enamel projections extending from the tips of the cusps), delayed tooth eruption, malformed ears (over folded and crumpled ears), sensorineural hearing loss, short stature with marked epiphyseal dysplasia and an unusual facial phenotype. 900000000000017005 3310621018 20160731 1 900000000000207008 718089001 en 900000000000550004 Reintubation of a patient due to acute respiratory failure following extubation. 900000000000017005 3310739016 20160731 1 900000000000207008 717968005 en 900000000000550004 An extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma). Fewer than 20 affected families have been reported to date. Affected individuals had cutaneous melanoma in association with dysplastic nevi, astrocytoma, benign or malignant peripheral nerve sheath tumor, neurofibroma, medulloblastoma, glioblastoma multiforme, ependymoma, glioma, and meningioma. In some cases, melanoma was described first followed by nervous system tumors, and in other cases, melanoma was a secondary cancer. The etiology of this tumor association is unknown. Genetic mutations or germline deletions are thought to underlie this cancer susceptibility syndrome. 900000000000017005 3310740019 20160731 1 900000000000207008 717968005 en 900000000000550004 An extremely rare tumour association characterised by dual predisposition to melanoma and neural system tumours (typically astrocytoma). Fewer than 20 affected families have been reported to date. Affected individuals had cutaneous melanoma in association with dysplastic nevi, astrocytoma, benign or malignant peripheral nerve sheath tumour, neurofibroma, medulloblastoma, glioblastoma multiforme, ependymoma, glioma, and meningioma. In some cases, melanoma was described first followed by nervous system tumours, and in other cases, melanoma was a secondary cancer. The aetiology of this tumour association is unknown. Genetic mutations or germline deletions are thought to underlie this cancer susceptibility syndrome. 900000000000017005 3310746013 20160731 1 900000000000207008 717973004 en 900000000000550004 A recently described chromosomal abnormality with unclear clinical significance. Reported in fewer than 30 patients. The clinical phenotype is extremely variable and the most consistent features are mild or moderate intellectual deficit and microcephaly. These microduplications appear de novo or are inherited from mildly affected or completely normal parents. 900000000000017005 3310752014 20160731 1 900000000000207008 717975006 en 900000000000550004 A form of autosomal dominant optic atrophy with characteristics of progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance. 900000000000017005 3310763012 20160731 1 900000000000207008 717977003 en 900000000000550004 Lissencephaly syndrome, Norman-Roberts type is the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation. Severe intellectual deficit, spasticity and epilepsy are also present. Mutations in the RELN gene (7q22) have been identified in some patients. Transmission is autosomal recessive. 900000000000017005 3311010017 20160731 1 900000000000207008 718059008 en 900000000000550004 Pulse oximetry utilizing near infrared spectroscopy (NIRS) is commonly used in modern ICUs to provide a continuous measure of hemoglobin saturation and systemic oxygenation. 900000000000017005 3311015010 20160731 1 900000000000207008 718060003 en 900000000000550004 Chronic separation of the periodontal tissue from the root by 1-2 millimeters of clinical attachment loss in greater than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 3311019016 20160731 1 900000000000207008 718062006 en 900000000000550004 Chronic separation of the periodontal tissue from the root by 3-4 millimeters of clinical attachment loss in greater than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 3311023012 20160731 1 900000000000207008 718060003 en 900000000000550004 Chronic separation of the periodontal tissue from the root by 1-2 millimetres of clinical attachment loss in greater than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 3311033016 20160731 1 900000000000207008 718064007 en 900000000000550004 Acute separation of the periodontal tissue from the root by 1-2 millimeters of clinical attachment loss in greater than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 3311034010 20160731 1 900000000000207008 718064007 en 900000000000550004 Acute separation of the periodontal tissue from the root by 1-2 millimetres of clinical attachment loss in greater than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 3311040015 20160731 1 900000000000207008 718065008 en 900000000000550004 Acute separation of the periodontal tissue from the root by 5 millimeters or more of clinical attachment loss in greater than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 3311041016 20160731 1 900000000000207008 718065008 en 900000000000550004 Acute separation of the periodontal tissue from the root by 5 millimetres or more of clinical attachment loss in greater than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 3311047017 20160731 1 900000000000207008 718066009 en 900000000000550004 Acute separation of the periodontal tissue from the root by 3-4 millimeters of clinical attachment loss in greater than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 3311048010 20160731 1 900000000000207008 718066009 en 900000000000550004 Acute separation of the periodontal tissue from the root by 3-4 millimetres of clinical attachment loss in greater than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 3311049019 20160731 1 900000000000207008 718061004 en 900000000000550004 Chronic separation of the periodontal tissue from the root by 5 millimeters or more of clinical attachment loss in greater than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 3311050019 20160731 1 900000000000207008 718061004 en 900000000000550004 Chronic separation of the periodontal tissue from the root by 5 millimetres or more of clinical attachment loss in greater than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 3311051015 20160731 1 900000000000207008 718062006 en 900000000000550004 Chronic separation of the periodontal tissue from the root by 3-4 millimetres of clinical attachment loss in greater than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus). 900000000000017005 3311055012 20160731 1 900000000000207008 718067000 en 900000000000550004 Dental implant which has never achieved osseointegration. 900000000000017005 3311097018 20160731 1 900000000000207008 718059008 en 900000000000550004 Pulse oximetry utilising near infrared spectroscopy (NIRS) is commonly used in modern ICUs to provide a continuous measure of haemoglobin saturation and systemic oxygenation. 900000000000017005 3311112010 20160731 1 900000000000207008 718085007 en 900000000000550004 A patient under general anesthesia with muscle relaxation who cannot be intubated by direct laryngoscopy and in whom mask ventilation is difficult and impossible. 900000000000017005 3311113017 20160731 1 900000000000207008 718085007 en 900000000000550004 A patient under general anaesthesia with muscle relaxation who cannot be intubated by direct laryngoscopy and in whom mask ventilation is difficult and impossible. 900000000000017005 3311119018 20160731 1 900000000000207008 710961002 en 900000000000550004 When positioning patient in bed, involves the use of any of several support devices designed to help ensure proper body alignment and to make the patient more comfortable. Some of these are pillows, foot boards, trochanter rolls and hand rolls. 900000000000017005 3311144014 20160731 1 900000000000207008 718095000 en 900000000000550004 Describes the combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip and palate, omphalocele and congenital diaphragmatic hernia . These anomalies are associated at a higher frequency than would be expected with random combination rates. 900000000000017005 3311149016 20160731 1 900000000000207008 718096004 en 900000000000550004 A rare disorder with characteristics of sclerosis of the intrahepatic portal veins, non-cirrhotic portal hypertension, asymptomatic splenomegaly and recurrent variceal bleeding. Most commonly, the condition is detected in investigating a fortuitous finding of hypersplenism or splenomegaly. Main histopathologic findings are periportal fibrosis, occlusion of small portal veins, sclerosis of the portal venous system, and proliferation of small vascular channels within/around portal tracts. The disease is slowly progressive. Exposure to toxic substances or drugs, autoimmune and connective tissue diseases, systemic or intraabdominal infections, and clotting abnormalities have been incriminated. A genetic background has been suggested. 900000000000017005 3311156010 20160731 1 900000000000207008 718097008 en 900000000000550004 A reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung. 900000000000017005 3311165015 20160731 1 900000000000207008 718099006 en 900000000000550004 A developmental defect with manifestation of variable intramembranous ossification defects of the parietal bones, which is asymptomatic, symptomatic or associated with other pathologies. A congenital disorder caused by insufficient ossification around the parietal notch. In most cases this results from heterozygous loss of function mutations in human homeobox genes, MSX2 (5q35.2) and ALX4 (11p11.2), which encode transcription factors involved in skeletal development. Transmission is autosomal dominant with high but incomplete penetrance. 900000000000017005 3311171014 20160731 1 900000000000207008 718182008 en 900000000000550004 Congenital multiple pituitary hormone deficiency including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Rare when compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy. Clinical presentation is variable, depending on the type and severity of deficiencies and on the age at diagnosis. If untreated, main symptoms include short stature, cognitive alterations or delayed puberty. Due to mutations of several genes encoding pituitary transcription factors. A diagnosis must be suspected when evident causes of hypopituitarism have been ruled out. Type of transmission varies with the factor and the mutation involved. 900000000000017005 3311181013 20160731 1 900000000000207008 718103001 en 900000000000550004 A movement disorder with manifestation of episodes of involuntary tremor of the chin and lower lip. The disorder has been described in less than 25 families from Europe and the USA, with a slight male preponderance. Onset usually occurs in childhood and may be precipitated by stress and emotion. Episodes may occur during sleep. There are no associated neurological abnormalities. Spontaneous improvement with age is possible. Inheritance is autosomal dominant. 900000000000017005 3311182018 20160731 1 900000000000207008 251727006 en 900000000000550004 Observation of appearance of angle of anterior chamber. 900000000000017005 3311186015 20160731 1 900000000000207008 718104007 en 900000000000550004 A very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which has characteristic of a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death. 900000000000017005 3311191019 20160731 1 900000000000207008 718105008 en 900000000000550004 A rare chronic form of cutaneous amyloidosis, a skin disease with characteristics of the accumulation of amyloid deposits in the dermis. Clinical manifestations include the development of pruritic, often pigmented hyperkeratotic papules on trunk and extremities, especially on the shins. Histological findings include the deposition of amyloid or amyloid-like proteins in the papillary dermis. 900000000000017005 3311195011 20160731 1 900000000000207008 718106009 en 900000000000550004 A frequent form of diazoxide-sensitive diffuse hyperinsulinism characterized by an excessive uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur. 900000000000017005 3311196012 20160731 1 900000000000207008 718106009 en 900000000000550004 A frequent form of diazoxide-sensitive diffuse hyperinsulinism characterised by an excessive uncontrolled insulin secretion (inappropriate for the level of glycaemia), asymptomatic hyperammonaemia and recurrent episodes of profound hypoglycaemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycaemia may also occur. 900000000000017005 3311200019 20160731 1 900000000000207008 718107000 en 900000000000550004 A form of severe combined immunodeficiency with severe and recurrent infections, associated with diarrhea and failure to thrive. The disease is characterized by a lack of circulating T and NK (Natural Killer) cells and normal number of B lymphocytes. Results from a defect in the JAK3 gene encoding an intracellular tyrosine kinase, the Janus activating kinase 3 required for cytokine-mediated signalling. Transmission is autosomal recessive. 900000000000017005 3311201015 20160731 1 900000000000207008 718107000 en 900000000000550004 A form of severe combined immunodeficiency with severe and recurrent infections, associated with diarrhoea and failure to thrive. The disease is characterised by a lack of circulating T and NK (Natural Killer) cells and normal number of B lymphocytes. Results from a defect in the JAK3 gene encoding an intracellular tyrosine kinase, the Janus activating kinase 3 required for cytokine-mediated signalling. Transmission is autosomal recessive. 900000000000017005 3311232019 20160731 1 900000000000207008 718122005 en 900000000000550004 Piebaldism is a rare congenital pigmentation skin disorder with characteristic of the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes. 900000000000017005 3311237013 20160731 1 900000000000207008 718124006 en 900000000000550004 A very rare mitochondrial disease with clinical characteristic of cardioencephalomyopathy resulting in death in infancy. 900000000000017005 3311247011 20160731 1 900000000000207008 718128009 en 900000000000550004 A rare entity usually diagnosed by echocardiography. It may be limited to one of the four valves but can also involve the two atrioventricular valves and the two semilunar valves. May be the hallmark of genetic anomalies. Chromosomal anomalies should be searched when polyvalvular dysplasia is found in a fetus, namely trisomy 18 and trisomy 13. Triscuspid valve dysplasia can be the only cardiac finding in trisomy 21 and a karyotype analysis should be performed in all fetuses exhibiting this anomaly. In the absence of chromosomal anomalies, polyvalvular dysplasia can be observed in Noonan syndrome. Thickening of the different cardiac valves can be observed in various storage diseases such as mucopolysaccharidoses. In these later conditions, it develops after the neonatal period and is frequently associated with extracardiac symptoms suggestive of the diagnosis. 900000000000017005 3311247011 20200731 0 900000000000207008 718128009 en 900000000000550004 A rare entity usually diagnosed by echocardiography. It may be limited to one of the four valves but can also involve the two atrioventricular valves and the two semilunar valves. May be the hallmark of genetic anomalies. Chromosomal anomalies should be searched when polyvalvular dysplasia is found in a fetus, namely trisomy 18 and trisomy 13. Triscuspid valve dysplasia can be the only cardiac finding in trisomy 21 and a karyotype analysis should be performed in all fetuses exhibiting this anomaly. In the absence of chromosomal anomalies, polyvalvular dysplasia can be observed in Noonan syndrome. Thickening of the different cardiac valves can be observed in various storage diseases such as mucopolysaccharidoses. In these later conditions, it develops after the neonatal period and is frequently associated with extracardiac symptoms suggestive of the diagnosis. 900000000000017005 3311265010 20160731 1 900000000000207008 718135001 en 900000000000550004 A rare congenital heart malformation with characteristics of underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. Manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy. 900000000000017005 3311281017 20160731 1 900000000000207008 718141008 en 900000000000550004 Nephrotic syndrome with often-early onset defined by severe proteinuria with low serum albumin and possible edema. This disease is rare but severe as it usually progresses to end-stage renal failure. Mutations in the NPHS2 gene (chromosome 1q25-q31 and encoding podocine) have been found to be involved in autosomal recessive forms of the disease. Mutations in the podocine gene have also been detected in later-onset forms and in apparently sporadic forms. Mutations in the ACTN4 gene, coding for alpha-actinine 4, have been reported in autosomal dominant forms. Familial forms of idiopathic steroid-resistant nephrotic syndrome do not respond to any treatment with steroids or immunosuppressive drugs and the disease progress to terminal renal failure. 900000000000017005 3311282012 20160731 1 900000000000207008 718141008 en 900000000000550004 Nephrotic syndrome with often-early onset defined by severe proteinuria with low serum albumin and possible oedema. This disease is rare but severe as it usually progresses to end-stage renal failure. Mutations in the NPHS2 gene (chromosome 1q25-q31 and encoding podocine) have been found to be involved in autosomal recessive forms of the disease. Mutations in the podocine gene have also been detected in later-onset forms and in apparently sporadic forms. Mutations in the ACTN4 gene, coding for alpha-actinine 4, have been reported in autosomal dominant forms. Familial forms of idiopathic steroid-resistant nephrotic syndrome do not respond to any treatment with steroids or immunosuppressive drugs and the disease progress to terminal renal failure. 900000000000017005 3311375011 20160731 1 900000000000207008 718174008 en 900000000000550004 Comprises of several syndromes of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus with characteristics of developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. Can be familial or sporadic. The familial form has an insidious onset and a slowly progressive downhill course, while the sporadic form is associated with abrupt neurologic dysfunction following an acute systemic febrile illness such as a mycoplasma, measles or streptococcus infection. Familial disease can be inherited as an autosomal recessive or mitochondrial disorder. 900000000000017005 3311384011 20160731 1 900000000000207008 718176005 en 900000000000550004 Autosomal recessive limb girdle muscular dystrophy type 2C (LGMD2C) is a limb girdle muscular dystrophy with manifestations of limb-girdle weakness, calf hypertrophy, diaphragmatic weakness and variable cardiac abnormalities. Ambulation may be lost by the age 12. 900000000000017005 3311387016 20160731 1 900000000000207008 718177001 en 900000000000550004 Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a limb-girdle muscular dystrophy with manifestations of limb-girdle weakness, cardiomyopathy and respiratory impairment. LGMD2F is caused by a deficit of a sarcoglycan protein and therefore belongs to a group of disorders named sarcoglycanopathy. 900000000000017005 3311390010 20160731 1 900000000000207008 718178006 en 900000000000550004 Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a laminopathy with characteristics of progressive limb girdle weakness, usually affecting the pelvic girdle before humeral muscles, mild joint contractures and age-related atrioventricular cardiac conduction disturbances. Dilated cardiomyopathy is frequently associated. 900000000000017005 3311395017 20160731 1 900000000000207008 718179003 en 900000000000550004 Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a limb-girdle muscular dystrophy with characteristics of limb-girdle weakness and atrophy mostly in the shoulder pelvic girdle. Cardiac and respiratory muscles are not involved. 900000000000017005 3311399011 20160731 1 900000000000207008 718180000 en 900000000000550004 Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy with characteristics of proximal limb girdle weakness predominant in the legs together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency. 900000000000017005 3311402012 20160731 1 900000000000207008 718181001 en 900000000000550004 A very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse. Often associated with other cardiac abnormalities but is mostly an isolated anomaly. It is mostly found in infants and children and occasionally as an incidental finding in adults. Two types are described: fibrous and muscular. The etiology of congenital cardiac diverticulum is not known. Hemodynamic factors may play a role. 900000000000017005 3311403019 20160731 1 900000000000207008 718181001 en 900000000000550004 A very rare congenital malformation characterised by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening haemodynamic collapse. Often associated with other cardiac abnormalities but is mostly an isolated anomaly. It is mostly found in infants and children and occasionally as an incidental finding in adults. Two types are described: fibrous and muscular. The aetiology of congenital cardiac diverticulum is not known. Haemodynamic factors may play a role. 900000000000017005 3311411012 20160731 1 900000000000207008 718183003 en 900000000000550004 A type of primary congenital hypothyroidism a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. Clinical manifestations are those of other forms of congenital hypothyroidism. In addition to features of hypothyroidism, patients can present with goiter. Caused by hereditary defects in the steps of thyroid hormone synthesis and secretion, the majority of which are transmitted in an autosomal recessive manner but at least one condition has autosomal dominant inheritance. 900000000000017005 3311412017 20160731 1 900000000000207008 718183003 en 900000000000550004 A type of primary congenital hypothyroidism a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. Clinical manifestations are those of other forms of congenital hypothyroidism. In addition to features of hypothyroidism, patients can present with goitre. Caused by hereditary defects in the steps of thyroid hormone synthesis and secretion, the majority of which are transmitted in an autosomal recessive manner but at least one condition has autosomal dominant inheritance. 900000000000017005 3311427017 20160731 1 900000000000207008 718188007 en 900000000000550004 A rare chromosomal anomaly with clinical manifestations of mild to severe intellectual deficit, severe developmental delay, hypotonia with tendency to develop progressive hypertonia over time, minor facial anomalies and agenesis of the corpus callosum. Thirty to fifty percent of individuals have autism. An inverted duplication with a terminal deletion of the short arm of chromosome 8 mostly occurs as either an inverted duplication from centromere to D8S552 with a pter deletion from D8S349 or as an inverted duplication from 8p11.2 or 8p21 to D8S552, with a telomeric deletion from D8349. The input of the 8p deletion to the clinical picture appears less significant than the 8p inversion duplication rearrangement. To date, all invdupdel(8p) have occurred de novo. 900000000000017005 3311434015 20160731 1 900000000000207008 718189004 en 900000000000550004 Recombinant 8 syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 with characteristics of major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism. The prevalence is unknown but the syndrome is rare. 900000000000017005 3311449011 20160731 1 900000000000207008 718192000 en 900000000000550004 A rare cause of glomerulonephritis characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, and mainly presenting with renal insufficiency, micro-hematuria and nephritic range proteinuria. Etiology is unknown. The disease is generally considered idiopathic but it may be associated with secondary causes such as monoclonal or oligoclonal gammopathy, hepatitis B and C infections, autoimmune diseases and malignancies. 900000000000017005 3311450011 20160731 1 900000000000207008 718192000 en 900000000000550004 A rare cause of glomerulonephritis characterised by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, and mainly presenting with renal insufficiency, micro-haematuria and nephritic range proteinuria. Aetiology is unknown. The disease is generally considered idiopathic but it may be associated with secondary causes such as monoclonal or oligoclonal gammopathy, hepatitis B and C infections, autoimmune diseases and malignancies. 900000000000017005 3311454019 20160731 1 900000000000207008 718193005 en 900000000000550004 A permanent thyroid hormone deficiency that is present from birth. The majority of cases are asymptomatic but some may have features of hypothyroidism including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanelles (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. In 90% of cases the peripheral resistance to thyroid hormones is caused by dominantly inherited mutations in genes encoding for thyroid hormone receptor beta. 900000000000017005 3311454019 20200731 0 900000000000207008 718193005 en 900000000000550004 A permanent thyroid hormone deficiency that is present from birth. The majority of cases are asymptomatic but some may have features of hypothyroidism including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanelles (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. In 90% of cases the peripheral resistance to thyroid hormones is caused by dominantly inherited mutations in genes encoding for thyroid hormone receptor beta. 900000000000017005 3311455018 20160731 1 900000000000207008 718193005 en 900000000000550004 A permanent thyroid hormone deficiency that is present from birth. The majority of cases are asymptomatic but some may have features of hypothyroidism including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxoedematous facies, large fontanelles (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. In 90% of cases the peripheral resistance to thyroid hormones is caused by dominantly inherited mutations in genes encoding for thyroid hormone receptor beta. 900000000000017005 3311455018 20200731 0 900000000000207008 718193005 en 900000000000550004 A permanent thyroid hormone deficiency that is present from birth. The majority of cases are asymptomatic but some may have features of hypothyroidism including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxoedematous facies, large fontanelles (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. In 90% of cases the peripheral resistance to thyroid hormones is caused by dominantly inherited mutations in genes encoding for thyroid hormone receptor beta. 900000000000017005 3311458016 20160731 1 900000000000207008 718194004 en 900000000000550004 A permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary. The clinical manifestations can be subtle, probably as a result of trans-placental passage of some maternal thyroid hormone or due to the fact that many infants have some thyroid production of their own. Goiter is always absent. Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Without treatment hypothyroidism results in severe intellectual deficit and short stature. The hypothyroidism is caused by mutations in genes regulating pituitary gland development including HESX1, LHX3, LHX4, POU1F1 and PROP1 (3p21.2-p21.1, 9q34.3, 1q25, 3p11 and 5q). 900000000000017005 3311459012 20160731 1 900000000000207008 718194004 en 900000000000550004 A permanent thyroid deficiency that is present from birth, characterised by low levels of thyroid hormones caused by disorders in the development or function of the pituitary. The clinical manifestations can be subtle, probably as a result of trans-placental passage of some maternal thyroid hormone or due to the fact that many infants have some thyroid production of their own. Goitre is always absent. Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Without treatment hypothyroidism results in severe intellectual deficit and short stature. The hypothyroidism is caused by mutations in genes regulating pituitary gland development including HESX1, LHX3, LHX4, POU1F1 and PROP1 (3p21.2-p21.1, 9q34.3, 1q25, 3p11 and 5q). 900000000000017005 3311465012 20160731 1 900000000000207008 718195003 en 900000000000550004 A familial form of essential thrombocythemia, a myeloproliferative disorder characterized by a sustained elevation of platelet number with a tendency for thrombosis and hemorrhage. Patients commonly manifest microcirculatory disturbances or vaso-motor events. The disease is less frequently associated with an increased risk of hemorrhage, mild splenomegaly, and progression towards myelofibrosis with myeloid metaplasia or transformation to leukemia. The genetic cause of the inherited predisposition is not known. Transmission appears to be autosomal dominant with incomplete penetrance. 900000000000017005 3311466013 20160731 1 900000000000207008 718195003 en 900000000000550004 A familial form of essential thrombocythaemia, a myeloproliferative disorder characterised by a sustained elevation of platelet number with a tendency for thrombosis and haemorrhage. Patients commonly manifest microcirculatory disturbances or vaso-motor events. The disease is less frequently associated with an increased risk of haemorrhage, mild splenomegaly, and progression towards myelofibrosis with myeloid metaplasia or transformation to leukaemia. The genetic cause of the inherited predisposition is not known. Transmission appears to be autosomal dominant with incomplete penetrance. 900000000000017005 3311474014 20160731 1 900000000000207008 718196002 en 900000000000550004 A form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia. Prevalence of this form is not known. The disorder is not associated with mutations in the HBB gene (11p15.5), but with mutations in the gene encoding GATA-binding protein-1 (GATA1; Xp11.23) that result in reduced expression of the beta-globin genes. Transmission is X-linked. 900000000000017005 3311475010 20160731 1 900000000000207008 718196002 en 900000000000550004 A form of beta-thalassaemia characterised by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassaemia. Prevalence of this form is not known. The disorder is not associated with mutations in the HBB gene (11p15.5), but with mutations in the gene encoding GATA-binding protein-1 (GATA1; Xp11.23) that result in reduced expression of the beta-globin genes. Transmission is X-linked. 900000000000017005 3311484010 20160731 1 900000000000207008 718200007 en 900000000000550004 A rare lymphoma of the lung defined as a clonal lymphoid proliferation affecting one or both lungs in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. Comprises low grade/indolent B cell forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell and lymphomatoid granulomatosis. Very rare and represents only 3-4% of extranodal non-Hodgkin lymphoma. 900000000000017005 3311518015 20160731 1 900000000000207008 718210003 en 900000000000550004 A very rare recessive X-linked biogenic amine metabolism disorder with clinical characteristics of mild intellectual deficit, impulsive aggressiveness, sometimes violent behavior and presenting from childhood. 900000000000017005 3311519011 20160731 1 900000000000207008 718210003 en 900000000000550004 A very rare recessive X-linked biogenic amine metabolism disorder with clinical characteristics of mild intellectual deficit, impulsive aggressiveness, sometimes violent behaviour and presenting from childhood. 900000000000017005 3311524014 20160731 1 900000000000207008 718211004 en 900000000000550004 A form of Ehlers-Danlos syndrome with characteristics of hypotonia, kyphoscoliosis at birth and joint hyperextensibility. 900000000000017005 3311526011 20160731 1 900000000000207008 718212006 en 900000000000550004 Characterized by early neonatal onset of hypotonia, hypertrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria. Most patients who survive the neonatal period have mild cranio-facial dysmorphism with low set ears, prominent nasal bridge and retrognathia, persisting muscular hypotonia and moderate psychomotor developmental delay. The result of an isolated decrease in the tissue content and activity of mitochondrial FoF1 ATP synthase caused by depressed biosynthesis of the enzyme. This enzyme defect is present in all tissues and is due to autosomal recessive mutations in the TMEM70 gene (8q21.11), encoding ancillary factor of ATP synthase biogenesis. 900000000000017005 3311527019 20160731 1 900000000000207008 718212006 en 900000000000550004 Characterised by early neonatal onset of hypotonia, hypertrophic cardiomyopathy and apnoeic spells within hours after birth accompanied by lactic acidosis, hyperammonaemia and 3-methylglutaconic aciduria. Most patients who survive the neonatal period have mild cranio-facial dysmorphism with low set ears, prominent nasal bridge and retrognathia, persisting muscular hypotonia and moderate psychomotor developmental delay. The result of an isolated decrease in the tissue content and activity of mitochondrial FoF1 ATP synthase caused by depressed biosynthesis of the enzyme. This enzyme defect is present in all tissues and is due to autosomal recessive mutations in the TMEM70 gene (8q21.11), encoding ancillary factor of ATP synthase biogenesis. 900000000000017005 3311530014 20160731 1 900000000000207008 718213001 en 900000000000550004 A demyelinating polyneuropathy characterized clinically by sensory ataxia, tremor, paresthesia, and impaired gait. 900000000000017005 3311531013 20160731 1 900000000000207008 718213001 en 900000000000550004 A demyelinating polyneuropathy characterised clinically by sensory ataxia, tremor, paraesthesia, and impaired gait. 900000000000017005 3311535016 20160731 1 900000000000207008 718214007 en 900000000000550004 Syndrome with the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. The symptoms are progressive and the clinical picture is dominated by severe gastrointestinal disorders due to abnormal bowel motility. Morphological studies of the muscles reveal the presence of a low proportion of muscle fibers with mitochondrial proliferation (ragged-red fibers) or cytochrome c oxidase deficiency. Inherited in an autosomal recessive manner and is caused by mutations in the TYMP gene (22q13.32-qter). 900000000000017005 3311536015 20160731 1 900000000000207008 718214007 en 900000000000550004 Syndrome with the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. The symptoms are progressive and the clinical picture is dominated by severe gastrointestinal disorders due to abnormal bowel motility. Morphological studies of the muscles reveal the presence of a low proportion of muscle fibres with mitochondrial proliferation (ragged-red fibres) or cytochrome c oxidase deficiency. Inherited in an autosomal recessive manner and is caused by mutations in the TYMP gene (22q13.32-qter). 900000000000017005 3311541011 20160731 1 900000000000207008 718215008 en 900000000000550004 A variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin. It is a very rare disease but the exact prevalence is not known. It mainly affects women during adulthood (30-60 years of age). Scarring alopecia presents as small confluent patches that are atrophic and cicatricial in the center but erythematous and squamous around the edges. Follicular keratosis presents as pruritic, red-brown, follicular spiny papules on the trunk and extremities. Generally, the three clinical features appear simultaneously but in some cases, scalp alopecia precedes the follicular keratosis. Etiology is unknown. 900000000000017005 3311542016 20160731 1 900000000000207008 718215008 en 900000000000550004 A variant of lichen planopilaris characterised by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin. It is a very rare disease but the exact prevalence is not known. It mainly affects women during adulthood (30-60 years of age). Scarring alopecia presents as small confluent patches that are atrophic and cicatricial in the centre but erythematous and squamous around the edges. Follicular keratosis presents as pruritic, red-brown, follicular spiny papules on the trunk and extremities. Generally, the three clinical features appear simultaneously but in some cases, scalp alopecia precedes the follicular keratosis. Aetiology is unknown. 900000000000017005 3311546018 20160731 1 900000000000207008 718216009 en 900000000000550004 A congenital heart malformation characterized by an atrial septal defect, clefts of mitral and occasionally tricuspid valves, two separate atrioventricular valve annuli and an intact ventricular septum. The typical symptoms are impaired exercise capacity and exertional dyspnea. The age of onset is variable, but clinical features may not appear until later in life. In contrast to the complete form, patients with partial atrioventricular canal have two separate AV valves, (resulting from fusion of the superior and inferior bridging leaflets), and no large intraventricular communication. 900000000000017005 3311547010 20160731 1 900000000000207008 718216009 en 900000000000550004 A congenital heart malformation characterised by an atrial septal defect, clefts of mitral and occasionally tricuspid valves, two separate atrioventricular valve annuli and an intact ventricular septum. The typical symptoms are impaired exercise capacity and exertional dyspnoea. The age of onset is variable, but clinical features may not appear until later in life. In contrast to the complete form, patients with partial atrioventricular canal have two separate AV valves, (resulting from fusion of the superior and inferior bridging leaflets), and no large intraventricular communication. 900000000000017005 3311553010 20160731 1 900000000000207008 718217000 en 900000000000550004 A small-vessel vasculitis presenting with palpable purpura and urticarial lesions which predate the purpuric lesions most frequently observed on the legs. Systemic symptoms including fever, cough, hemoptysis, sinusitis, arthralgia, arthritis, myalgia, abdominal pain, diarrhea, hematochezia, paresthesia, weakness, and hematuria may be observed. Can be idiopathic (up to 50% of cases) or secondary to infection, medications (such as antituberculosis medication), collagen vascular diseases, or neoplasms. 900000000000017005 3311554016 20160731 1 900000000000207008 718217000 en 900000000000550004 A small-vessel vasculitis presenting with palpable purpura and urticarial lesions which predate the purpuric lesions most frequently observed on the legs. Systemic symptoms including fever, cough, haemoptysis, sinusitis, arthralgia, arthritis, myalgia, abdominal pain, diarrhoea, haematochezia, paraesthesia, weakness, and haematuria may be observed. Can be idiopathic (up to 50% of cases) or secondary to infection, medications (such as antituberculosis medication), collagen vascular diseases, or neoplasms. 900000000000017005 3311557011 20160731 1 900000000000207008 718218005 en 900000000000550004 A rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalized. The prevalence is unknown but it is one of the rarest forms of porokeratosis. The disease is more frequently seen in males. The exact etiology is unknown. A possible locus for PPPD has been found on chromosome 12q24.1-24.2. Usually follows a dominant (autosomal or X-linked) pattern of inheritance. 900000000000017005 3311558018 20160731 1 900000000000207008 718218005 en 900000000000550004 A rare form of porokeratosis occurring mainly in adolescence and characterised by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalised. The prevalence is unknown but it is one of the rarest forms of porokeratosis. The disease is more frequently seen in males. The exact aetiology is unknown. A possible locus for PPPD has been found on chromosome 12q24.1-24.2. Usually follows a dominant (autosomal or X-linked) pattern of inheritance. 900000000000017005 3311565014 20160731 1 900000000000207008 718219002 en 900000000000550004 A mitochondrial disease, a French Canadian form of Leigh syndrome, with characteristics of chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development. It was first described in Saguenay-Lac-Saint-Jean (Quebec, Canada) in this region the prevalence of the gene mutation underlying the disorder is estimated to be 1/23 inhabitants and may be due to a founder effect. There are 3 forms of the disease corresponding to varying degrees of severity: a neonatal form, a classic form and a so-called survivor form. Survivor form describes those who have survived several episodes, cross a critical threshold and show less severe symptoms. Caused by two types of mutations in the LRPPRC gene (2p21). The disease follows a monogenic autosomal recessive pattern of inheritance. 900000000000017005 3311567018 20160731 1 900000000000207008 718220008 en 900000000000550004 Breast cancer is the most common cancer in women, accounting for 25% of all new cases of cancer. Most cases are sporadic, while 5-10% are estimated to be due to an inherited predisposition. Autosomal dominant alterations in two genes, BRCA1 and BRCA2, are likely to account for most familial cases of early-onset breast and/or ovarian cancer and for 3-4% of all breast cancer. The lifetime risk of developing hereditary breast cancer and/or ovarian cancer can reach 80%. For a given mutation in the susceptibility gene, disease severity and age at onset show great variability within and between breast cancer families, suggesting the involvement of other genetic as well as non-genetic factors. 900000000000017005 3311571015 20160731 1 900000000000207008 718221007 en 900000000000550004 Behr syndrome includes an optic atrophy associated with neurological manifestations. This syndrome is clinically similar to Costeff syndrome but can be distinguished by the absence of metabolic abnormalities. This inherited disorder is transmitted following an autosomal recessive pattern. The optic atrophy is responsible for a moderate to severe visual impairment that appears early in life. The neurological manifestations can include myoclonic epilepsy, progressive spastic paraplegia due to pyramidal tract involvement, dysarthria, extra-pyramidal tract signs, ataxia, urinary incontinence, mental retardation, posterior column sensory loss or muscle contractures. 900000000000017005 3311576013 20160731 1 900000000000207008 718222000 en 900000000000550004 A rare genetic malformation disorder with characteristics of cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. Associated with mutations in the IRF6 gene (1q32.2-q32.3) which is involved in the formation of connective and epithelial tissues. Follows an autosomal dominant pattern of inheritance. 900000000000017005 3311584012 20160731 1 900000000000207008 718224004 en 900000000000550004 A rare acquired disorder with characteristics of unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved. Usually presents during the first 20 years of life and may start with alopecia, hair hypopigmentation, and atrophy. May extend to the upper lip and or one side of the tongue and the masticatory muscles, resulting in deviation of the nose and or mouth toward the affected side. Rarely both sides of the face and the skin on the arms/trunk/leg or the entire body may be involved. Autoimmunity may be a cause along with facial or head trauma, meningoencephalitis, abnormal development or hyperactivity of the sympathetic nervous system, neuro-vasculitis, angiogenesis anomalies, and slow viral infections. Sporadic but rare familial cases have been reported. 900000000000017005 3311590011 20160731 1 900000000000207008 718226002 en 900000000000550004 Wolf-Hirschhorn syndrome is a developmental disorder with characteristics of typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. Caused by a deletion in the short arm of the 4th chromosome (4p16.3 region), including at least part of the LETM1 and WHSC1 genes. Most cases are sporadic, but an unbalanced translocation may be inherited from a parent with a balanced rearrangement. 900000000000017005 3311593013 20160731 1 900000000000207008 718227006 en 900000000000550004 A chromosomal anomaly with characteristics of developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity. The proximal 16p11.2 microdeletion syndrome most commonly refers to a distinct deletion of approximately 593 kb at chromosomal coordinates 29.5-30.1 Mb comprising 24 genes. The relationship between genotype and clinical phenotype remains elusive. 900000000000017005 3311601014 20160731 1 900000000000207008 718228001 en 900000000000550004 Fetal iodine syndrome is a group of symptoms that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (excessive or insufficient) amounts of iodine, a nonmetallic halogen element. Maternal iodine can be readily transferred to the fetus, and chronic maternal exposure to iodine can lead to hypothyroidism and goiter in the offspring. The majority of the reported fatalities caused by iodine intoxication resulted from the use of iodine-containing expectorants during pregnancy. Based on these observations, the repeated or routine use of iodine-containing products is not recommended during pregnancy. In addition to the problems associated with iodine intoxication, iodine deficiency during pregnancy may be severe enough to produce hypothyroidism in the fetus. 900000000000017005 3311602019 20160731 1 900000000000207008 718228001 en 900000000000550004 Fetal iodine syndrome is a group of symptoms that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (excessive or insufficient) amounts of iodine, a nonmetallic halogen element. Maternal iodine can be readily transferred to the fetus, and chronic maternal exposure to iodine can lead to hypothyroidism and goitre in the offspring. The majority of the reported fatalities caused by iodine intoxication resulted from the use of iodine-containing expectorants during pregnancy. Based on these observations, the repeated or routine use of iodine-containing products is not recommended during pregnancy. In addition to the problems associated with iodine intoxication, iodine deficiency during pregnancy may be severe enough to produce hypothyroidism in the fetus. 900000000000017005 3311609011 20160731 1 900000000000207008 718230004 en 900000000000550004 A genetic variant of Mendelian susceptibility to mycobacterial diseases with characteristics of a complete deficiency in interferon gamma receptor 1(IFN-gammaR1), leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Guérin and other environmental mycobacteria. Infection is disseminated and can involve soft tissue, bone marrow, lungs, skin, bones and lymph nodes. Manifestations include fever, weight loss, hepatosplenomegaly, lymphadenopathies and lepromatous-like lesions. Caused by complete IFN-gammaR1 deficiency due to mutations in the IFNGR1 gene on chromosome 6q23-q24. Transmission is autosomal recessive. 900000000000017005 3311617015 20160731 1 900000000000207008 718232007 en 900000000000550004 A primary immunodeficiency with characteristics of increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease. Only 24 cases have been reported. The disease presents in childhood with recurrent, life-threatening, pyogenic bacterial infections. This predisposition to life-threatening infections seems transient and lasts during the first 10 years of life in the cases reported so far. Myeloid differentiation primary response 88 (MyD88) deficiency results from mutations in the MYD88 gene (3p22-3p21.3) which generally abolishes the cytokine responses of the blood cells. Transmission is autosomal recessive. 900000000000017005 3311782013 20160731 1 900000000000207008 717907002 en 900000000000550004 Activities performed to support interest in leisure activities or play. Such activities are designed for patients who lack interest or do not care to engage in leisure activities in the hospital. 900000000000017005 3311905019 20160731 1 900000000000207008 718329006 en 900000000000550004 A route that begins with diffusion or accumulation in a tissue or cells. 900000000000017005 3311963011 20160731 1 900000000000207008 5491000179105 en 900000000000550004 A consolidation of the previous health records of a patient. 900000000000017005 3311970011 20160731 1 900000000000207008 6301000124105 en 900000000000550004 A cephalometric plane between soft tissue components of the head. 900000000000017005 3312132014 20160731 1 900000000000207008 718393002 en 900000000000550004 A neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfil all the diagnostic criteria for typical Rett syndrome. Several subvariants have been defined; the early-onset seizure type (Hanefeld), congenital variant (Rolando), the 'forme fruste' type, the late childhood regression form and the preserved speech variant (PSD or Zappella variant). Diagnosis relies on clinical evaluation using the diagnostic criteria for atypical Rett originally defined by Hagberg in 1994: an atypical case must meet at least three of the six main criteria and at least five of the eleven supportive criteria. 900000000000017005 3312294018 20160731 1 900000000000207008 718444008 en 900000000000550004 Injection of local anesthetic into tissue planes between the pectoralis muscles and between pectoralis minor and serratus anterior. 900000000000017005 3312295017 20160731 1 900000000000207008 718444008 en 900000000000550004 Injection of local anaesthetic into tissue planes between the pectoralis muscles and between pectoralis minor and serratus anterior. 900000000000017005 3312302011 20160731 1 900000000000207008 718446005 en 900000000000550004 The clinical situation in which a conventionally trained anesthesiologist experiences difficulty with mask ventilation, difficulty with tracheal intubation or both. 900000000000017005 3312303018 20160731 1 900000000000207008 718446005 en 900000000000550004 The clinical situation in which a conventionally trained anaesthesiologist experiences difficulty with mask ventilation, difficulty with tracheal intubation or both. 900000000000017005 3312327016 20170131 1 900000000000207008 717285003 en 900000000000550004 Vascular system care refers to the care of patients with vascular system problems and venous disease e.g. varicose veins, thrombophlebitis, or deep venous thrombosis (DVT). 900000000000017005 3312340014 20160731 1 900000000000207008 718460007 en 900000000000550004 Polish NRC 900000000000017005 3312340014 20170731 0 900000000000207008 718460007 en 900000000000550004 Polish NRC 900000000000017005 3312347012 20160731 1 900000000000207008 718462004 en 900000000000550004 Human Longevity Inc. 900000000000017005 3312347012 20170731 0 900000000000207008 718462004 en 900000000000550004 Human Longevity Inc. 900000000000017005 3312382013 20160731 1 900000000000207008 718481007 en 900000000000550004 Cardiac auscultation area at fifth left intercostal space close to left mid-clavicular line. 900000000000017005 3312383015 20160731 1 900000000000207008 718483005 en 900000000000550004 Cardiac auscultation area at fourth, fifth left intercostal space close to left sternal border. 900000000000017005 3312394016 20160731 1 900000000000207008 718479005 en 900000000000550004 Cardiac auscultation area at second left intercostal space close to left sternal border. 900000000000017005 3312400019 20160731 1 900000000000207008 718480008 en 900000000000550004 Cardiac auscultation area at second right intercostal space close to right sternal border. 900000000000017005 3312402010 20160731 1 900000000000207008 715769008 en 900000000000550004 A very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips. 900000000000017005 3312456015 20160731 1 900000000000207008 718497002 en 900000000000550004 This attribute specifies the location of the entity specified by the attribute "Inheres in". 900000000000017005 3312456015 20170131 1 900000000000012004 718497002 en 900000000000550004 This attribute specifies the location of the entity specified by the attribute "Inheres in". 900000000000017005 3312471016 20160731 1 900000000000207008 251721007 en 900000000000550004 Observation of patency of angle of anterior chamber. 900000000000017005 3312736015 20170131 1 900000000000207008 718552009 en 900000000000550004 A rare and isolated orofacial defect with manifestation of incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family. 900000000000017005 3312739010 20170131 1 900000000000207008 718553004 en 900000000000550004 A platelet granule disorder with manifestation of thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding. 900000000000017005 3312743014 20170131 1 900000000000207008 718554005 en 900000000000550004 A platelet granule disorder with manifestation of thrombocytopenia with giant platelets resulting in increased propensity for bleeding. 900000000000017005 3312746018 20170131 1 900000000000207008 718555006 en 900000000000550004 A very rare severe motor neuron disease with manifestation of progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. The disease is usually slowly progressive and some patients have been reported to become bedridden by 12 to 50 years of age. Mutations in the following genes have been found in patients ALS2 (2q33-q35), and rarely SIGMAR1 (9p13.3), SPG11 (15q13-q15) and FUS (16p11.2). 900000000000017005 3312753010 20170131 1 900000000000207008 718556007 en 900000000000550004 A rare multiple congenital anomalies syndrome with characteristics of craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies. To date less than 50 cases have been described. The exact cause is still unknown but mutations in KIAA0196 (8q24.13; coding for strumpellin) have been identified. Sporadic and familial cases have been reported. Transmission is autosomal recessive. Phenotypic variability exists between siblings. 900000000000017005 3312761017 20170131 1 900000000000207008 718558008 en 900000000000550004 A rare, very severe form of mevalonate kinase deficiency with characteristics of dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes. 900000000000017005 3312764013 20170131 1 900000000000207008 718559000 en 900000000000550004 An autosomal recessively inherited form of acromesomelic dysplasia with characteristics of severe dwarfism (adult height less than 120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening) and with normal facial appearance and intelligence. 900000000000017005 3312802015 20170131 1 900000000000207008 718551002 en 900000000000550004 An exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It has characteristics of the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with Moyamoya angiopathy in most cases. Other variable associated manifestations include hypertension, Raynaud phenomenon and livedo reticularis. 900000000000017005 3312805018 20170131 1 900000000000207008 718572004 en 900000000000550004 A benign autosomal dominant form of slowly progressive muscular dystrophy. To date, fewer than 100 cases have been reported in the literature, thus illustrating its rarity. The clinical features do not differ markedly from those of other mild forms of progressive muscular dystrophy with the exception of finger contractures that are sometimes suggestive of the diagnosis. Creatine kinase levels and histological findings are not conclusive. Mutations in one of the three subunits of collagen VI are responsible for the disease. Molecular studies are however hampered by the size and expression pattern of the genes. Treatment remains purely supportive. 900000000000017005 3312808016 20170131 1 900000000000207008 718573009 en 900000000000550004 An extremely rare genetic syndrome, reported in a few families to date with characteristics of the association of microcephaly, intellectual deficit and achalasia. Symptoms of achalasia include coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood. 900000000000017005 3312813017 20170131 1 900000000000207008 718574003 en 900000000000550004 A multiple congenital anomalies syndrome with manifestations of cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature and radio-ulnar synostosis. To date, 4 cases have been described in the literature. These manifestations overlap with those of CHARGE syndrome, however, in contrast to CHARGE syndrome, patients with Abruzzo-Erikson syndrome do not show intellectual disability, choanal atresia or genital hypoplasia. Inherited in an X-linked recessive manner, with a carrier female having a 50% chance of transmitting the mutation to her offspring. 900000000000017005 3312817016 20170131 1 900000000000207008 718575002 en 900000000000550004 An extremely rare multiple congenital malformation syndrome with the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay in two thirds of cases. Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. 900000000000017005 3312822016 20170131 1 900000000000207008 718576001 en 900000000000550004 A very rare genetic disorder with characteristics of the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate and severe joint contractures. Less than 20 cases have been reported in the literature. The fingers are thin with absent knuckles and reduced creases over the joints and patients show an inability to make a full fist. Additional findings may include deformed ears, ptosis, an inability to open the mouth fully, heart defects, and clubfoot. There are currently no human genes associated with this disease. 900000000000017005 3312824015 20170131 1 900000000000207008 718577005 en 900000000000550004 Atkin-Flaitz syndrome has characteristics of moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked. 900000000000017005 3312831016 20170131 1 900000000000207008 718579008 en 900000000000550004 A rare subtype of posterior corneal dystrophy with characteristics of congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. Prevalence of this rare corneal dystrophy is unknown. Males are affected more severely than females. The condition is progressive in males and non-progressive in females. Has been mapped to the long arm of the X-chromosome (Xq25) but the causative gene has not been identified. Transmission is X-linked recessive. 900000000000017005 3312833018 20170131 1 900000000000207008 717286002 en 900000000000550004 An extremely rare form of corneal dystrophy with manifestation of variable patterns of opacification in the Bowman layer of the cornea that extend anteriorly into the epithelium with decreased to normal visual acuity. Onset is in the first to second decade of life. Patients develop painful erosions that are less severe than those in Reis-Bucklers corneal dystrophy and Thiel-Behnke corneal dystrophy. Visual acuity is normal or sometimes slightly decreased. The condition has a progressive course. An autosomal dominant pattern of inheritance has been reported. 900000000000017005 3312851017 20170131 1 900000000000207008 718586000 en 900000000000550004 Potential for trauma to skin or mucous membranes caused by heat or extreme temperatures during operative procedure. 900000000000017005 3312885016 20170131 1 900000000000207008 718602007 en 900000000000550004 A very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date. The disease has manifestations of adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet. 900000000000017005 3312889010 20170131 1 900000000000207008 718603002 en 900000000000550004 An extremely rare form of serine deficiency syndrome with clinical manifestations in the two reported cases to date of acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia. 900000000000017005 3312893016 20170131 1 900000000000207008 718604008 en 900000000000550004 A very rare, poorly differentiated neuroendocrine epithelial bladder tumor characterized clinically by hematuria and/or dysuria and a highly aggressive course. Urinary obstruction, abdominal pain, urinary tract infection and weight loss are occasionally present. Histology and immunohistochemistry show a tumor that is indistinguishable from small cell lung cancer. 900000000000017005 3312894010 20170131 1 900000000000207008 718604008 en 900000000000550004 A very rare, poorly differentiated neuroendocrine epithelial bladder tumour characterised clinically by haematuria and/or dysuria and a highly aggressive course. Urinary obstruction, abdominal pain, urinary tract infection and weight loss are occasionally present. Histology and immunohistochemistry show a tumour that is indistinguishable from small cell lung cancer. 900000000000017005 3312899017 20170131 1 900000000000207008 718605009 en 900000000000550004 A novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients. It has clinical characteristics in the neonatal period of hypotonia, no palpable gonads, micropenis and from infancy progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype. 900000000000017005 3312900010 20170131 1 900000000000207008 718605009 en 900000000000550004 A novel very rare form of pontocerebellar hypoplasia with unknown aetiology and poor prognosis reported in four patients. It has clinical characteristics in the neonatal period of hypotonia, no palpable gonads, micropenis and from infancy progressive microcephaly, apnoeic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype. 900000000000017005 3312906016 20170131 1 900000000000207008 718611007 en 900000000000550004 A novel very rare form of PCH with clinical manifestations of progressive microcephaly, feeding difficulties and severe developmental delay. Although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures are demonstrated. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. 900000000000017005 3312913016 20170131 1 900000000000207008 718606005 en 900000000000550004 A rare form of pontocerebellar hypoplasia with characteristics at birth of hypotonia, clonus, epilepsy, impaired swallowing and from infancy progressive microcephaly, spasticity and lactic acidosis. Reported in less than 10 cases to date. Caused by missense and splice site mutations in the mitochondrial arginyl-transfer RNA synthetase (RARS2) gene located to 6q16.1. Prognosis is poor, exact life expectancy is unknown but in most cases does not exceed infancy. 900000000000017005 3312919017 20170131 1 900000000000207008 718608006 en 900000000000550004 A very rare form of PCH with prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death. Has been reported in 10 families to date. Caused by a compound heterozygosity for p.A307S plus non-sense or splice site mutations in the TSEN54 gene. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5. Inherited in an autosomal recessive manner. 900000000000017005 3312925018 20170131 1 900000000000207008 718609003 en 900000000000550004 A rare form of PCH with clinical manifestation neonatally of hypotonia and impaired swallowing and from infancy onward seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3. To date, PCH3 is reported in only 3 families. In 2 families, an implication of locus 7q11-21 has been demonstrated. PCH3 is inherited in an autosomal recessive manner. 900000000000017005 3312931015 20170131 1 900000000000207008 718607001 en 900000000000550004 A very rare severe form of PCH with prenatal onset, with characteristics of fetal onset of clonus or seizures-like activity persisting into infancy and microcephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5. PCH5 is reported in 3 siblings to date. PCH5 is caused by a compound heterozygosity for p.A307S plus splice site mutation in the gene. PCH5 transmission is autosomal recessive. 900000000000017005 3312931015 20210731 0 900000000000207008 718607001 en 900000000000550004 A very rare severe form of PCH with prenatal onset, with characteristics of fetal onset of clonus or seizures-like activity persisting into infancy and microcephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5. PCH5 is reported in 3 siblings to date. PCH5 is caused by a compound heterozygosity for p.A307S plus splice site mutation in the gene. PCH5 transmission is autosomal recessive. 900000000000017005 3312947018 20170131 1 900000000000207008 718614004 en 900000000000550004 A rare multi-systemic disease with less than 10 cases described in literature. Manifests in mid-adulthood with the development of telangiectasia mostly on the face, trunk and arms, as well as with erythrocytosis that may cause a red facies and occasionally, headaches. The increased serum erythropoietin levels precede the intrapulmonary shunting. The intrapulmonary shunts cause hypoxia which slowly progresses until the person needs continuous supplemental oxygen. Blood clots, probably due to erythrocytosis, and bleeding in the brain have also been reported in some affected individuals. Monoclonal gammopathy and perinephric fluid collections are usually found incidentally and do not seem to cause any complications. The syndrome has a slow and regular progression. The cause of TEMPI syndrome is currently unknown. The abnormal plasma-cell clone and/or the monoclonal gammopathy are suggested to be triggers of the disease. 900000000000017005 3312953018 20170131 1 900000000000207008 718615003 en 900000000000550004 Encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies. The prevalence is unknown but 8q21.11 microdeletion syndrome is rare. Microdeletions appear de novo or are inherited from affected parents in an autosomal dominant manner. 900000000000017005 3312988018 20170131 1 900000000000207008 718610008 en 900000000000550004 PCH1 often has prenatal characteristics of polyhydramnios with arthrogryposis multiplex congenita. Neonates with PCH1 present with hypotonia, impaired swallowing with consequent feeding difficulties and progressive microcephaly which mostly develops postnatally. Subsequently a severe psychomotor deficit becomes apparent. The clinical course is severe. About 40 patients with PCH1 have been reported. To date recessive mutations have been noted in the EXOSC3 gene and in single cases recessive mutations have been found in the tRNA splicing endonuclease homolog 54 (TSEN54), mitochondrial arginyl-transfer RNA synthetase (RARS2), and in the vaccinia-related kinase 1 (VRK1) gene. PCH1 has an autosomal recessive transmission. 900000000000017005 3313008010 20170131 1 900000000000207008 718631006 en 900000000000550004 A rare clinical variant of epidermolytic ichthyosis, with manifestations of blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities. It has been reported in less than 10 families. The disease is caused by mutations in the KRT1 (12q11-q13) and KRT10 (17q21-q23) genes, encoding keratins 1 and 10 respectively. These mutations impair keratin filament formation and weaken the structural stability of the keratinocyte cytoskeleton. Transmission is autosomal dominant. 900000000000017005 3313012016 20170131 1 900000000000207008 718632004 en 900000000000550004 A minor variant of autosomal recessive congenital ichthyosis with manifestation of a collodion membrane at birth that heals within the first weeks of life. The exact prevalence is unknown. Approximately 25 cases have been reported in the literature. After the shedding of the membrane, patients present with mild scaling. Caused by mutations in the TGM1, ALOXE3 or ALOX12B genes encoding respectively transglutaminase 1, involved in the cornification of the stratum corneum, and arachidonate 3 and 12(R) lipoxygenases involved in lipid metabolism. Transmission is autosomal recessive. 900000000000017005 3313014015 20170131 1 900000000000207008 718633009 en 900000000000550004 A variant of self-healing collodion baby with manifestation of the presence at birth of a collodion membrane only at the extremities. Only 2 cases were described in the literature. In both cases, the babies healed soon after birth. In one case, molecular analysis was performed that revealed mutations in the TGM1 gene encoding transglutaminase 1, an enzyme involved in the cornification of the stratum corneum. 900000000000017005 3313018017 20170131 1 900000000000207008 718634003 en 900000000000550004 A primary microangiopathy confined to the skin with characteristics of multiple and widespread telangiectasia. It is a rare disorder with less than 20 cases reported in the literature to date. Most patients present in adulthood with symmetrical telangiectasia appearing on the lower extremities and later progressing to the trunk and upper extremities. Thought to be associated with collagen abnormalities in the skin microvasculature. 900000000000017005 3313022010 20160731 1 900000000000207008 716096005 en 900000000000550004 A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and with features of hypospadias and intellectual deficit, in association with microcephaly, craniofacial dysmorphism, joint laxity and beaked nails 900000000000017005 3313031010 20160731 1 900000000000207008 717221005 en 900000000000550004 Characterized by metaphyseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions. It has been described in four German families originating from the same town in Bohemia and in a 7-year-old Japanese girl. Transmission is autosomal dominant. 900000000000017005 3313032015 20160731 1 900000000000207008 717221005 en 900000000000550004 Characterised by metaphyseal undermodelling with broadening of the long bones and femora with an 'Erlenmeyer flask' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions. It has been described in four German families originating from the same town in Bohemia and in a 7-year-old Japanese girl. Transmission is autosomal dominant. 900000000000017005 3313038016 20160731 1 900000000000207008 715217004 en 900000000000550004 An inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal. 900000000000017005 3313039012 20160731 1 900000000000207008 715217004 en 900000000000550004 An inherited developmental defect syndrome characterised by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal. 900000000000017005 3313077018 20170131 1 900000000000207008 718649006 en 900000000000550004 The Draw-A-Man Test, developed by Goodenough in 1926 was the first formal figure drawing test. It was used to estimate a child's cognitive and intellectual abilities reflected in the drawing's quality. 900000000000017005 3313084014 20170131 1 900000000000207008 445822005 en 900000000000550004 The Draw-A-Person test (DAP), developed by Machover in 1948, used figure drawings in a projective way, focusing on how the drawings reflected the anxieties, impulses, self-esteem, and personality of the test taker. The DAP is the most frequently used figure drawing test today. 900000000000017005 3313156019 20170131 1 900000000000207008 718712005 en 900000000000550004 This syndrome has characteristics of muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity. 900000000000017005 3313175012 20170131 1 900000000000207008 718679004 en 900000000000550004 A syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females. 900000000000017005 3313176013 20170131 1 900000000000207008 718679004 en 900000000000550004 A syndromic limb malformation characterised by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalisation of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females. 900000000000017005 3313181016 20170131 1 900000000000207008 718680001 en 900000000000550004 Syndrome with characteristics of highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid hallux, forked metatarsal, poly and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment). Less than ten cases have been described in the literature. The causative gene has not yet been identified. 900000000000017005 3313189019 20170131 1 900000000000207008 718681002 en 900000000000550004 An extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases and characteristics of facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. 900000000000017005 3313219017 20170131 1 900000000000207008 718687003 en 900000000000550004 A chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 resulting in characteristics of facial dysmorphism, pre and postnatal growth retardation, cardiac and genital anomalies and developmental delay. Prevalence is unknown but around 40 cases have been described in the literature so far. Genital abnormalities have been mostly reported in males, psychomotor retardation (generally described as mild) was present in all reported cases. Distal monosomy 10q results from a subterminal 10q deletion with breakpoints in the 10q25 or 10q26 band leading to partial monosomy for the genes located in this area. Most of the reported cases involved de novo terminal deletions resulting from abnormal non-allelic homolog recombination during meiosis. 900000000000017005 3313223013 20170131 1 900000000000207008 718688008 en 900000000000550004 Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. Pure deletions have been described in less than 10 patients. Breakpoints are within 6p24-pter subtelomeric bands. 900000000000017005 3313224019 20170131 1 900000000000207008 718688008 en 900000000000550004 Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognisable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. Pure deletions have been described in less than 10 patients. Breakpoints are within 6p24-pter subtelomeric bands. 900000000000017005 3313228016 20170131 1 900000000000207008 718689000 en 900000000000550004 Distal trisomy of the long arm of chromosome 10 results in characteristics of pre and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay. To date, approximately 40 cases have been reported. Most cases are diagnosed in infancy or in childhood. The range and severity of symptoms and physical findings may vary from case to case, depending upon the exact length and location of the duplicated portion of chromosome 10q. The duplicated region almost always includes 10qter, with the most frequent proximal breakpoint at 10q24 (with variation from q22 to q25). Interstitial duplications of 10q have also been reported. 900000000000017005 3313234011 20170131 1 900000000000207008 718691008 en 900000000000550004 A congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral cryptophthalmia have been described. Transmission is autosomal dominant. 900000000000017005 3313306018 20170131 1 900000000000207008 718713000 en 900000000000550004 This syndrome has characteristics of hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a non-consanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter. 900000000000017005 3313309013 20170131 1 900000000000207008 718714006 en 900000000000550004 This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher, hypogonadism and abnormal behavior. It has been described in five related males. Inheritance appears to be X-linked recessive and a microdeletion, encompassing the POU3F4 gene (DFN3 locus), was detected in one of the patients leading to the suggestion that deafness hypogonadism is a contiguous gene deletion syndrome. 900000000000017005 3313310015 20170131 1 900000000000207008 718714006 en 900000000000550004 This syndrome is characterised by the association of congenital mixed hearing loss with perilymphatic gusher, hypogonadism and abnormal behaviour. It has been described in five related males. Inheritance appears to be X-linked recessive and a microdeletion, encompassing the POU3F4 gene (DFN3 locus), was detected in one of the patients leading to the suggestion that deafness hypogonadism is a contiguous gene deletion syndrome. 900000000000017005 3313313018 20170131 1 900000000000207008 718715007 en 900000000000550004 This syndrome has characteristics of the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. At least five cases have been described in the literature so far. Enlargement of the kidneys was also reported in some cases. Transmission is autosomal recessive. 900000000000017005 3313318010 20170131 1 900000000000207008 718716008 en 900000000000550004 Mixed autoimmune hemolytic anemia (mixed AIHA) is a type of autoimmune hemolytic anemia defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures. Diagnosis is based on clinical or laboratory evidence of hemolytic anemia and the detection of autoantibodies, usually both IgG and IgM, with the direct anti-globulin test (DAT) showing a pattern of IgG with complement C3, and the presence of cold agglutinins (IgM) in the serum at a significant titer. The disease responds to corticosteroids, and may be followed by remission, but usually runs a chronic course with intermittent exacerbations. 900000000000017005 3313319019 20170131 1 900000000000207008 718716008 en 900000000000550004 Mixed autoimmune haemolytic anaemia (mixed AIHA) is a type of autoimmune haemolytic anaemia defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures. Diagnosis is based on clinical or laboratory evidence of haemolytic anaemia and the detection of autoantibodies, usually both IgG and IgM, with the direct anti-globulin test (DAT) showing a pattern of IgG with complement C3, and the presence of cold agglutinins (IgM) in the serum at a significant titre. The disease responds to corticosteroids, and may be followed by remission, but usually runs a chronic course with intermittent exacerbations. 900000000000017005 3313322017 20170131 1 900000000000207008 718717004 en 900000000000550004 This syndrome has characteristics of short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections. To date, it has been described in four members of one family. Linkage analysis led to the identification of a homozygous deletion in the coding region of the ROBLD3 gene, resulting in reduced expression of the endosomal adaptor protein p14. 900000000000017005 3313326019 20170131 1 900000000000207008 718718009 en 900000000000550004 Syndrome with characteristics of moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28. 900000000000017005 3313330016 20170131 1 900000000000207008 718719001 en 900000000000550004 This syndrome has characteristics of the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and fetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia. 900000000000017005 3313333019 20170131 1 900000000000207008 718720007 en 900000000000550004 This syndrome has characteristics of severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphism and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and fetal akinesia sequence. 900000000000017005 3313337018 20170131 1 900000000000207008 718721006 en 900000000000550004 The absence or dramatic reduction of circulating human serum albumin (HSA) with less than 50 cases reported in the literature so far. In the majority of cases the disorder is diagnosed in adulthood. Although albumin is the most abundant plasma protein and has many functions, patients present with only a few mild clinical signs and biochemical abnormalities, HSA is either absent or present at very low levels (<1 g/L) but liver function is normal and there is an absence of conditions leading to significant protein loss. The disorder appears to be more severe in the fetus or during early infancy. Transmitted as an autosomal recessive trait and consanguinity has been shown in all reported cases, the disorder is caused by homozygous or compound heterozygous mutations in the gene coding for HSA (ALB; 4q13.3). 900000000000017005 3313421013 20170131 1 900000000000207008 719574007 en 900000000000550004 A recently described syndrome with characteristics of severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. The phenotype includes other features: postnatal growth retardation and microcephaly, hypotonia, epilepsy, stereotypic movements and feeding problems. Dysmorphic features associate prominent metopic suture, bilateral epicanthic folds, bulbous nasal tip, tented upper lip, everted lower lip and large ears. This syndrome is caused by an interstitial deletion encompassing 14q12. They have a variable size and include FOXG1 as the gene responsible for the intellectual deficit and severe microcephaly. 900000000000017005 3313507014 20170131 1 900000000000207008 720743003 en 900000000000550004 An oxygen delivery cannula with a reservoir pouch that hangs around the patient's neck. 900000000000017005 3313723012 20170131 1 900000000000207008 718749004 en 900000000000550004 A form of peeling skin syndrome that presents with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) forms. 900000000000017005 3313724018 20170131 1 900000000000207008 718749004 en 900000000000550004 A form of peeling skin syndrome that presents with a generalised distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) forms. 900000000000017005 3313729011 20170131 1 900000000000207008 718750004 en 900000000000550004 An extremely rare form of carbohydrate deficient glycoprotein syndrome with, in the few cases reported to date, variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism. 900000000000017005 3313732014 20170131 1 900000000000207008 718752007 en 900000000000550004 An exceedingly rare form of hereditary episodic ataxia with characteristics of ataxia with weakness, vertigo, and dysarthria without interictal findings. 900000000000017005 3313734010 20170131 1 900000000000207008 718751000 en 900000000000550004 An extremely rare form of carbohydrate deficient glycoprotein syndrome with, in the single reported case to date, seizures, some dysmorphic features, axial hypotonia, slight peripheral hypertonia and hyperreflexia. 900000000000017005 3313740015 20170131 1 900000000000207008 718753002 en 900000000000550004 An exceedingly rare form of hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia. 900000000000017005 3313744012 20170131 1 900000000000207008 718754008 en 900000000000550004 A very rare form of hereditary episodic ataxia with characteristics of late-onset episodic ataxia, recurrent attacks of vertigo and diplopia. 900000000000017005 3313748010 20170131 1 900000000000207008 718755009 en 900000000000550004 A very rare form of hereditary episodic ataxia with characteristics of vestibular ataxia, vertigo, tinnitus and interictal myokymia. 900000000000017005 3313751015 20170131 1 900000000000207008 718756005 en 900000000000550004 An extremely rare form of hereditary episodic ataxia with characteristics of recurrent episodes of vertigo and ataxia lasting several hours. 900000000000017005 3313762015 20170131 1 900000000000207008 718759003 en 900000000000550004 A congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis. 900000000000017005 3313770013 20170131 1 900000000000207008 718761007 en 900000000000550004 The association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations. Less than 20 cases have been reported in the literature so far. The clinical picture is highly variable, even between affected members of the same family. Severe developmental delay was noted in some patients, whilst others showed normal cognitive development. Pituitary dysfunction, leading to growth hormone deficiency and short stature, or combined pituitary hormone deficiency, has also been reported. The syndrome is caused by heterozygous mutations in the OTX2 gene (14q22.3). 900000000000017005 3313777011 20170131 1 900000000000207008 718763005 en 900000000000550004 Spondyloepiphyseal dysplasia MacDermot type has characteristics of short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness. The syndrome has been described in a family in which females in four successive generations were affected. Myopia and retinal detachment were present in adult life. 900000000000017005 3313780012 20170131 1 900000000000207008 718764004 en 900000000000550004 An extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and with characteristics of short stature, vertebral and femoral abnormalities, cervical instability and neurological manifestations secondary to anomalies of the odontoid process. 900000000000017005 3313785019 20170131 1 900000000000207008 718765003 en 900000000000550004 An extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date with clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet. 900000000000017005 3313789013 20170131 1 900000000000207008 718766002 en 900000000000550004 Spondyloepiphyseal dysplasia Nishimura type has characteristics of spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. The syndrome has been described in four Japanese siblings born to nonconsanguineous parents. Most clinical manifestations are evident at birth, but skeletal changes and cataracts may become evident during early childhood. 900000000000017005 3313797018 20170131 1 900000000000207008 718769009 en 900000000000550004 A very rare subtype of autosomal dominant cerebellar ataxia type 3 with characteristics of late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities. To date, only 23 affected patients have been described from one American family of Norwegian descent. Disease onset occurs between the ages of 26-60. A candidate gene has recently been identified as the eukaryotic translation elongation factor 2 (EEF2) gene, located on chromosome 19p13.3. Inherited autosomal dominantly. 900000000000017005 3313800016 20170131 1 900000000000207008 718770005 en 900000000000550004 A very rare subtype of type I autosomal dominant cerebellar ataxia with characteristics of cerebellar ataxia and prominent sensory neuropathy. Fewer than 10 cases in a 4-generation French family have been reported to date. Age of onset ranges from 1 to 39 years. The clinical features vary widely from sensory neuropathy with little cerebellar ataxia to cerebellar ataxia with little sensory neuropathy. Some patients exhibit gastrointestinal disorders such as vomiting and abdominal pain as initial symptoms. Scoliosis and urinary problems are also observed. Maps to chromosome 2p15-p21. 900000000000017005 3313806010 20170131 1 900000000000207008 718772002 en 900000000000550004 A very rare subtype of type I autosomal dominant cerebellar ataxia with characteristics of gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia. This subtype has only been described in 4 Dutch families. Age of onset is from 43 to 56 years. Maps to chromosome region 20p12.3-p13 and missense mutations in the prodynorphin PDYN gene appear to cause the disease. 900000000000017005 3313807018 20170131 1 900000000000207008 718771009 en 900000000000550004 A very rare subtype of type I autosomal dominant cerebellar ataxia with cerebellar dysarthria as the initial typical manifestation. Prevalence is unknown. Fewer than 20 cases in a 4-generation Australian family of Anglo-Celtic descent have been reported to date. Age of symptomatic disease onset ranges from 19 to 64 years. Linked to chromosome 11q12.2-11q12.3. 900000000000017005 3313813010 20170131 1 900000000000207008 718773007 en 900000000000550004 This syndrome has characteristics of the association of severe congenital colitis with sensorineural deafness. So far, two cases with neonatal onset have been described. Endoscopy reveals a smooth mucosa without ulcerations but histological studies reveal abnormal vacuolated epithelial cells with premature exfoliation within the glandular lumens, accompanied by increased mucus production and an increase in cholinergic fibres within the lamina propria. 900000000000017005 3313816019 20170131 1 900000000000207008 718774001 en 900000000000550004 A very rare subtype of type I autosomal dominant cerebellar ataxia with characteristics of slowly progressive cerebellar ataxia, mild cognitive impairment, postural and or resting tremor, bradykinesia, and rigidity. Prevalence is unknown. Fewer than 20 cases in a 4-generation French family have been reported to date. Maps to chromosome 7p21.3-p15.1 but the gene and gene mutation have not been identified. 900000000000017005 3314060010 20170131 1 900000000000207008 718845002 en 900000000000550004 This syndrome has characteristics of ataxia, apraxia, intellectual deficit and or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers. 900000000000017005 3314104018 20170131 1 900000000000207008 718846001 en 900000000000550004 This syndrome is characterized by severe intellectual deficit with inability to walk and speak, muscle atrophy, and urinary and fecal incontinence. It has been described in six males of a Brazilian family. 900000000000017005 3314105017 20170131 1 900000000000207008 718846001 en 900000000000550004 This syndrome is characterised by severe intellectual deficit with inability to walk and speak, muscle atrophy, and urinary and faecal incontinence. It has been described in six males of a Brazilian family. 900000000000017005 3314122015 20170131 1 900000000000207008 718847005 en 900000000000550004 This syndrome is an X-linked neurodegenerative disorder with characteristics of intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12. 900000000000017005 3314125018 20170131 1 900000000000207008 718848000 en 900000000000550004 A rare X-linked mental retardation syndrome with characteristics of psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies. Prevalence is unknown, but the syndrome was originally described in a large Scottish family. Mutations in the AP1S2 gene (Xp22), coding for a subunit of the clathrin-associated adaptor protein complex involved in intracellular protein trafficking and synaptic vesicle recycling, have been identified in seven families. 900000000000017005 3314128016 20170131 1 900000000000207008 718849008 en 900000000000550004 This syndrome is characterised by generalised hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter. 900000000000017005 3314129012 20170131 1 900000000000207008 718849008 en 900000000000550004 This syndrome is characterized by generalized hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter. 900000000000017005 3314133017 20170131 1 900000000000207008 718850008 en 900000000000550004 Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy with characteristics of limb-girdle weakness, particularly of the pelvic girdle muscles. 900000000000017005 3314136013 20170131 1 900000000000207008 718851007 en 900000000000550004 This syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. This very rare syndrome has only been described in three families, one of which contained a few dozen affected individuals spanning eight generations. The disorder is transmitted as an autosomal dominant trait and is caused by dysfunction of the PITX3 gene (localised to 10q25). This gene codes for a transcription factor involved in the development of the lens and anterior segment of the eye. 900000000000017005 3314137016 20170131 1 900000000000207008 718851007 en 900000000000550004 This syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. This very rare syndrome has only been described in three families, one of which contained a few dozen affected individuals spanning eight generations. The disorder is transmitted as an autosomal dominant trait and is caused by dysfunction of the PITX3 gene (localized to 10q25). This gene codes for a transcription factor involved in the development of the lens and anterior segment of the eye. 900000000000017005 3314218015 20170131 1 900000000000207008 718876008 en 900000000000550004 The Modified Card Sorting Test (MCST), a shortened version of the Wisconsin Card Sorting Test, proposed by Nelson in 1976 is a neuropsychological test that evaluates executive functions in patients with focal, traumatic and degenerative brain diseases. 900000000000017005 3314292015 20170131 1 900000000000207008 718880003 en 900000000000550004 An extremely rare mitochondrial disorder with characteristics of facial dysmorphism similar to that seen in Zellweger syndrome. These features include frontal bossing, high forehead, up slanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds and in addition, pale skin, profound hypotonia, developmental delay and minor metabolic anomalies. No peroxisomal defects have been reported. Transmission is thought to be autosomal recessive. 900000000000017005 3314295018 20170131 1 900000000000207008 718881004 en 900000000000550004 A recently described syndrome with characteristics of short stature, hypogonadism, developmental delay and facial dysmorphism. Facial features include deep-set eyes, bulbous nasal tip and thin lips. Hypogonadism is due to primary gonadal failure. Patients also had some features that are probably caused by testosterone deficiency such as a high-pitched voice, sparse body hair and small hands and feet. Carrier females present with a short stature and early menopause. This syndrome is caused by an Xq27.3q28 interstitial duplication encompassing the FMR1 and AFF2 genes but not the MECP2 gene. Transmission is X-linked. 900000000000017005 3314318018 20170131 1 900000000000207008 718882006 en 900000000000550004 This syndrome is an immunodeficiency syndrome with characteristics of recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein. 900000000000017005 3314341014 20170131 1 900000000000207008 718896000 en 900000000000550004 This syndrome combining intellectual deficit, ciliary dysfunction and macrocephalus has been described in several males from one large family. Ciliary dysfunction leads to recurrent pulmonary infections and death in most cases. This syndrome is a recessive X-liked mental retardation and has been associated with mutations in the OFD1 gene, known to be involved in oral-facial-digital syndrome. 900000000000017005 3314341014 20200131 0 900000000000207008 718896000 en 900000000000550004 This syndrome combining intellectual deficit, ciliary dysfunction and macrocephalus has been described in several males from one large family. Ciliary dysfunction leads to recurrent pulmonary infections and death in most cases. This syndrome is a recessive X-liked mental retardation and has been associated with mutations in the OFD1 gene, known to be involved in oral-facial-digital syndrome. 900000000000017005 3314344018 20170131 1 900000000000207008 718897009 en 900000000000550004 This syndrome has characteristics of microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked. 900000000000017005 3314354019 20170131 1 900000000000207008 718900002 en 900000000000550004 This syndrome has manifestations of moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome. 900000000000017005 3314355018 20170131 1 900000000000207008 718900002 en 900000000000550004 This syndrome has manifestations of moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localized to the q21.3-q27 region of the X chromosome. 900000000000017005 3314370017 20170131 1 900000000000207008 718905007 en 900000000000550004 This syndrome is characterised by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localised to the q12-Xq21.31 region of the X-chromosome. 900000000000017005 3314371018 20170131 1 900000000000207008 718905007 en 900000000000550004 This syndrome is characterized by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localized to the q12-Xq21.31 region of the X-chromosome. 900000000000017005 3314378012 20170131 1 900000000000207008 718908009 en 900000000000550004 This syndrome is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localised to the p11.21 region of the X chromosome. 900000000000017005 3314379016 20170131 1 900000000000207008 718908009 en 900000000000550004 This syndrome is characterized by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localized to the p11.21 region of the X chromosome. 900000000000017005 3314382014 20170131 1 900000000000207008 718909001 en 900000000000550004 This syndrome has characteristics of intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome. 900000000000017005 3314385011 20170131 1 900000000000207008 718910006 en 900000000000550004 This syndrome is characterised by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behaviour and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localised to the Xp11.2 region. 900000000000017005 3314386012 20170131 1 900000000000207008 718910006 en 900000000000550004 This syndrome is characterized by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behavior and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localized to the Xp11.2 region. 900000000000017005 3314395016 20170131 1 900000000000207008 718911005 en 900000000000550004 This syndrome has manifestations of intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked. 900000000000017005 3314398019 20170131 1 900000000000207008 718912003 en 900000000000550004 X-linked mental retardation, Turner type has characteristics of moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant. 900000000000017005 3314398019 20210731 0 900000000000207008 718912003 en 900000000000550004 X-linked mental retardation, Turner type has characteristics of moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant. 900000000000017005 3314404012 20170131 1 900000000000207008 718914002 en 900000000000550004 X-linked intellectual deficit Van Esch type has characteristics of mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism. It has been described in seven males from a family of Belgian origin. The syndrome is transmitted in an X-linked recessive manner and mapped to the Xp22.1-p21.3 region of the X-chromosome. 900000000000017005 3314615010 20170131 1 900000000000207008 719021005 en 900000000000550004 A very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities and thrombocytopenia. Less than 15 cases have been reported. The spectrum of upper limb defects varies from radial agenesis and phocomelia to amelia. A meningoencephalocele is constant. The intellectual development may be normal. Pathogenesis and cause of this syndrome are unknown. Parental consanguinity reported in a family suggests an autosomal recessive pattern of inheritance. 900000000000017005 3314657016 20170131 1 900000000000207008 719009006 en 900000000000550004 This syndrome has characteristics of severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been located to the 11p region of the X chromosome. 900000000000017005 3314660011 20170131 1 900000000000207008 719010001 en 900000000000550004 X-linked mental retardation Schimke type has characteristics of intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked. 900000000000017005 3314663013 20170131 1 900000000000207008 719011002 en 900000000000550004 This syndrome has characteristics of the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been located to the q28 region of the X chromosome. 900000000000017005 3314666017 20170131 1 900000000000207008 719012009 en 900000000000550004 X-linked mental retardation Miles-Carpenter type has characteristics of severe intellectual deficit, microcephaly, exotropia and low digital arches. It has been described in four male members of one family. Joint hypermobility, distal muscle wasting, hypogonadism and rocker bottom feet were also reported. Low digital arches and exotropia were described in several female members of the family. Transmission is X-linked and the causative gene has been mapped to Xq13-q22. 900000000000017005 3314671012 20170131 1 900000000000207008 719013004 en 900000000000550004 X-linked intellectual deficit Cilliers type has characteristics of mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears). It has been described in four males from one family. The syndrome is mapped to the Xq25-q26 region of the X-chromosome. The syndrome is transmitted in an X-linked recessive manner. 900000000000017005 3314679014 20170131 1 900000000000207008 719016007 en 900000000000550004 Characterized by marked neonatal hypotonia, progressive quadriparesis, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, and stereotypic movements of the hands, esotropia and infantile autism. It has been described in two related males, whereas female carriers were unaffected. Pericentric inversion inv(X)(q13;p22) has been identified it results in the absence of the product of the KIAA2022 gene, highly expressed in the brain. 900000000000017005 3314680012 20170131 1 900000000000207008 719016007 en 900000000000550004 Characterised by marked neonatal hypotonia, progressive quadriparesis, severely delayed developmental milestones (walking at 3 years of age), gastrooesophageal reflux, and stereotypic movements of the hands, esotropia and infantile autism. It has been described in two related males, whereas female carriers were unaffected. Pericentric inversion inv(X)(q13;p22) has been identified it results in the absence of the product of the KIAA2022 gene, highly expressed in the brain. 900000000000017005 3314683014 20170131 1 900000000000207008 719017003 en 900000000000550004 This syndrome has characteristics of intellectual deficiency, short stature, seizures and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts and or glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28. 900000000000017005 3314687010 20170131 1 900000000000207008 719018008 en 900000000000550004 This syndrome has characteristics of X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations. 900000000000017005 3314690016 20170131 1 900000000000207008 719019000 en 900000000000550004 Syndrome is characterised by haematological anomalies (Fanconi anaemia, leukaemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant. 900000000000017005 3314691017 20170131 1 900000000000207008 719019000 en 900000000000550004 Syndrome is characterized by hematological anomalies (Fanconi anemia, leukemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant. 900000000000017005 3314695014 20170131 1 900000000000207008 719020006 en 900000000000550004 W syndrome has characteristics of intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant. 900000000000017005 3314695014 20210930 0 900000000000207008 719020006 en 900000000000550004 W syndrome has characteristics of intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant. 900000000000017005 3314769016 20170131 1 900000000000207008 719041000 en 900000000000550004 Upington disease has characteristics of Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant. 900000000000017005 3314772011 20170131 1 900000000000207008 719042007 en 900000000000550004 This syndrome is characterised by coloboma of the iris, bilateral cleft lip and palate and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant. 900000000000017005 3314773018 20170131 1 900000000000207008 719042007 en 900000000000550004 This syndrome is characterized by coloboma of the iris, bilateral cleft lip and palate and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and hematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant. 900000000000017005 3314779019 20170131 1 900000000000207008 719043002 en 900000000000550004 VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association. 900000000000017005 3314779019 20200131 0 900000000000207008 719043002 en 900000000000550004 VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association. 900000000000017005 3314783019 20170131 1 900000000000207008 719044008 en 900000000000550004 Partial agenesis of the pancreas is an absence of a critical mass of pancreatic tissue. It is a rare disorder with only around 50 cases being reported in the literature so far. The severity of the disease depends on the amount of functional pancreatic tissue present. Pancreatic agenesis is commonly associated with other malformations, in particular pancreaticobiliary duct anomalies or more rarely, polysplenia. In the majority of cases, patients are diagnosed after reporting abdominal pain. Agenesis of the dorsal pancreas usually manifests as diabetes. Pancreatic agenesis has been associated with mutations in the PDX1 gene (13q12.1), which encodes the insulin promoter factor-1 (IPF-1) transcription factor. 900000000000017005 3314789015 20170131 1 900000000000207008 719045009 en 900000000000550004 Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures. 900000000000017005 3314790012 20170131 1 900000000000207008 719045009 en 900000000000550004 Orbital leiomyoma is a rare benign smooth muscle tumour arising from the walls of orbital vessels characterised by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumour is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumour cells are oval with blunted ends and there are no mitotic figures. 900000000000017005 3314801011 20170131 1 900000000000207008 719046005 en 900000000000550004 This syndrome has characteristics of mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis. 900000000000017005 3314805019 20170131 1 900000000000207008 719047001 en 900000000000550004 A recently described syndrome with characteristics of developmental delay, hypotonia and facial dysmorphism. It has been clinically and molecularly described in 3 patients. All three children have similar dysmorphic features, including widely-spaced eyes, short nose with flat nasal bridge, long philtrum, prominent Cupid's bow, full lower lip and similar auricular anomalies. This syndrome is caused by an interstitial deletion encompassing 14q11.2. 900000000000017005 3314808017 20170131 1 900000000000207008 719048006 en 900000000000550004 Extreme sensitivity to tickling. 900000000000017005 3314861013 20170131 1 900000000000207008 719069008 en 900000000000550004 An extremely rare disorder with less than 50 cases reported to date worldwide. The disorder usually has characteristics of marfanoid habitus, craniofacial abnormalities (craniosynostosis, characteristic dysmorphic facial features), skeletal and cardiovascular abnormalities and learning disabilities. Its occurrence is sporadic and mutations in the fibrillin-1 gene have been described in some of these patients. 900000000000017005 3314971014 20170131 1 900000000000207008 719096006 en 900000000000550004 Brittle cornea syndrome (BCS) is a form of Ehlers-Danlos syndrome with characteristics of severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. BCS generally progresses to blindness. 900000000000017005 3314974018 20170131 1 900000000000207008 719948009 en 900000000000550004 This syndrome has characteristics of trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges. It has been described in a brother and his sister born to consanguineous parents. 900000000000017005 3314980014 20170131 1 900000000000207008 719098007 en 900000000000550004 A rare disorder with characteristics of congenital hypothyroidism, infant respiratory distress syndrome and benign hereditary chorea. Prevalence is unknown but to date about 50 cases have been reported in the literature.The clinical spectrum varies from the complete triad of brain-lung-thyroid syndrome (50%), to brain and thyroid disease (30%), or isolated benign hereditary chorea (13%), which is the mildest expression of the syndrome. In addition, the severity of symptoms varies widely, even in families with the same disease-causing mutation. Brain-lung-thyroid syndrome is caused by mutations in the thyroid transcription factor 1 gene (NKX2-1/TITF1; 14q13.3). 900000000000017005 3314989010 20170131 1 900000000000207008 719101006 en 900000000000550004 An X-linked mental retardation syndrome belonging to the group of conditions with manifestations of intellectual deficit with hypotonic facies. Prevalence is unknown but the syndrome was originally described in 1988 in six males from three generations of one family. In the affected males the syndrome has characteristics of coarse facial appearance (prominent lips, bushy eyebrows, widely-spaced teeth, and a broad and depressed nasal bridge with a wide nasal tip), brachydactyly with widening of the distal phalanges, short stature and moderate intellectual deficit. The syndrome is caused by mutations in the ATRX gene (Xq13.3).The syndrome is transmitted as an X-linked recessive trait with skewed X-inactivation in carrier females. 900000000000017005 3314992014 20170131 1 900000000000207008 719102004 en 900000000000550004 This syndrome has characteristics of mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive. 900000000000017005 3314996012 20170131 1 900000000000207008 719103009 en 900000000000550004 This syndrome has characteristics of progressive spastic paraplegia and distal muscle wasting. So far, it has been described in two families. All affected individuals carried mutations in the neuropathy target esterase (NTE) gene, encoding a neural membrane protein. 900000000000017005 3315001018 20170131 1 900000000000207008 719104003 en 900000000000550004 A rare genetic skin disorder with characteristics of congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. To date the syndrome has been reported in two families (seven affected individuals) plus an additional sporadic patient was likely affected by the same condition. Usually presents during infancy with manifestations of fading of facial, scalp and body hair within the first months of life without subsequent re-growth. Body and facial keratosis pilaris are additional features that appear in the following years. Skin thickening of palms and soles develops during infancy and may have an unusual pattern affecting the two sides of fingers and palms, but usually sparing the palmar surfaces. 900000000000017005 3315135018 20170131 1 900000000000207008 719136005 en 900000000000550004 A rare syndromic form of cerebellar dysgenesis with characteristics of moderate to severe intellectual deficit and cerebellar abnormalities. OPHN1 syndrome is very rare. To date, up to 12 families have been reported. Affected male patients present moderate to severe intellectual disability, hypotonia, severe developmental delay, early-onset complex partial or tonic-clonic seizures, strabismus, dysmetria and occasionally ataxia. Cryptorchidism and genital hypoplasia have been reported. Various mutations including deletions and splice site mutations in the OPHN1 gene (Xq12) have been reported in patients with this syndrome. Transmission appears to follow an X-linked semi-dominant pattern. 900000000000017005 3315138016 20170131 1 900000000000207008 719137001 en 900000000000550004 This syndrome has characteristics of intellectual and motor deficit, spastic quadriparesis and agenesis of the corpus callosum, without craniofacial abnormalities or seizures. It has been described in four male members of a family. The mode of inheritance is most likely X-linked recessive. 900000000000017005 3315141013 20170131 1 900000000000207008 719138006 en 900000000000550004 This syndrome has characteristics of moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive. 900000000000017005 3315145016 20170131 1 900000000000207008 719139003 en 900000000000550004 A central nervous system malformation with characteristics of severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead) and brain imaging abnormalities. 900000000000017005 3315149010 20170131 1 900000000000207008 719140001 en 900000000000550004 This syndrome has characteristics of intellectual deficit associated with facial dysmorphism, patella luxation and abnormal growth of the teeth. It has been described in eight males from multiple generations of one family. The locus for the causative gene for this syndrome has been located to the region between p11.22 and p21.1 on the X chromosome. 900000000000017005 3315186011 20170131 1 900000000000207008 719157002 en 900000000000550004 This syndrome is characterised by severe intellectual deficit, hypotonia, mild facial dysmorphism and aggressive behaviour. It has been described in 10 male members spanning four generations of one family. The facial dysmorphism includes a high forehead, prominent ears, and a small pointed chin. Height and head circumference are reduced. This disorder is transmitted as an X-linked recessive trait and the causative gene maps to Xp22. 900000000000017005 3315187019 20170131 1 900000000000207008 719157002 en 900000000000550004 This syndrome is characterized by severe intellectual deficit, hypotonia, mild facial dysmorphism and aggressive behavior. It has been described in 10 male members spanning four generations of one family. The facial dysmorphism includes a high forehead, prominent ears, and a small pointed chin. Height and head circumference are reduced. This disorder is transmitted as an X-linked recessive trait and the causative gene maps to Xp22. 900000000000017005 3315188012 20170131 1 900000000000207008 719155005 en 900000000000550004 This syndrome has characteristics of intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked. 900000000000017005 3315192017 20170131 1 900000000000207008 719156006 en 900000000000550004 This syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration.This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23. 900000000000017005 3315193010 20170131 1 900000000000207008 719156006 en 900000000000550004 This syndrome is characterised by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinaemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration.This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23. 900000000000017005 3315202016 20170131 1 900000000000207008 719158007 en 900000000000550004 A very rare congenital distal limb malformation with characteristics of complete bilateral syndactyly involving all digits 1 to 5. So far, only four reports have been described in the literature. A frequent association with polydactyly (with six metacarpals and six digits) has been reported. Feet are affected occasionally. The SD4 locus maps to 7q36. The condition is inherited as an autosomal dominant trait. 900000000000017005 3315206018 20170131 1 900000000000207008 719159004 en 900000000000550004 A very rare congenital limb malformation with characteristics of postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits. So far, less than ten reports have been described in the literature. Soft tissue syndactyly (involving the third and fourth fingers and the second and third toes) may be present. The locus associated with SD5 maps to 2q31-q32. Mutations in the HOXD13 gene may be causative. The condition is inherited as an autosomal dominant trait. 900000000000017005 3315209013 20170131 1 900000000000207008 719160009 en 900000000000550004 This syndrome has characteristics of X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers. It has been described in ten males from a large Pakistani family. The causative gene has been located to Xp11.3-Xq23. 900000000000017005 3315214012 20170131 1 900000000000207008 719161008 en 900000000000550004 This syndrome is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity. 900000000000017005 3315215013 20170131 1 900000000000207008 719161008 en 900000000000550004 This syndrome is characterized by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioral problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity. 900000000000017005 3315220013 20170131 1 900000000000207008 719162001 en 900000000000550004 An extremely rare syndrome with characteristics of the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit. 900000000000017005 3315225015 20170131 1 900000000000207008 719163006 en 900000000000550004 An extremely rare congenital malformation with the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of the face. 900000000000017005 3315228018 20170131 1 900000000000207008 719164000 en 900000000000550004 Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding and facial diplegia or weakness. It is an extremely rare condition, with about 30 cases described in the literature. The calcifications are revealed by computed tomography scanning. The prognosis is very poor. 900000000000017005 3315231017 20170131 1 900000000000207008 719165004 en 900000000000550004 A new form of skeletal dysplasia with manifestations of severe short stature, facial dysmorphism and characteristic radiographic findings. To date, three cases have been described, all originating from the same family. The disease results from a missense mutation affecting the C-type lectin domain of aggrecan (AGC1 gene; chromosome 15) which regulates endochondral ossification. Transmission is autosomal recessive. 900000000000017005 3315234013 20170131 1 900000000000207008 719166003 en 900000000000550004 Disease that has characteristics of disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands. The syndrome has been described in a large consanguineous Arab Muslim family. It is caused by mutation in the matrilin-3 gene (MATN3, 2p24-p23) and transmitted in an autosomal recessive manner. 900000000000017005 3315252013 20170131 1 900000000000207008 719171005 en 900000000000550004 Disorder with manifestations of moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. The syndrome has been described in a large Missouri (US) kindred with 14 affected members in 4 generations. Though some spontaneous improvement of the skeletal defects may occur in adolescence, the affected individuals remained shorter than their age-matched unaffected siblings. Predisposition deformities to osteoarthritis have been noted. This condition is caused by mutation in the MMP13 gene (locus 11q22.3) and transmitted in an autosomal dominant manner. 900000000000017005 3315258012 20170131 1 900000000000207008 719172003 en 900000000000550004 Disorder with characteristics of short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. The syndrome has been described a large eight-generation consanguineous Pakistani family. Caused by mutations in the PAPSS2 gene (10q22-q24). Inherited in an autosomal recessive manner. 900000000000017005 3315350019 20170131 1 900000000000207008 719194006 en 900000000000550004 Hair that can be removed without resistance. 900000000000017005 3315401014 20170131 1 900000000000207008 719201004 en 900000000000550004 Disease with characteristics of severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly. The syndrome has been described in three members of a Jewish family of Iraqi origin and one Mexican boy. The long bone changes in adolescence show general metaphyseal irregularities and significant epiphyseal ossification delay. Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified. 900000000000017005 3315404018 20170131 1 900000000000207008 719202006 en 900000000000550004 Disease with characteristics of short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.The syndrome has been described in three daughters born to healthy consanguineous parents. The skeletal disorder usually manifests in late childhood. Typical radiographic features include platyspondyly, abnormal lumbar vertebrae and degenerative large joint changes. Autosomal recessive transmission has been suggested. 900000000000017005 3315407013 20170131 1 900000000000207008 719203001 en 900000000000550004 Disease with characteristics of short stature and premature degenerative arthropathy. It has been described in one multigenerational South African family of English white descent. The main clinical features may include proportionate short stature (less than fifth percentile for age), stocky habitus and early-onset progressive osteoarthropathy of the weight-bearing joints. Radiographic features are flattened vertebral bodies with sclerosis and prominent endplate irregularity and flattened femoral epiphyses. Caused by mutation in the aggrecan gene (AGC1, locus 15q26.1) and transmitted as an autosomal dominant trait. 900000000000017005 3315410018 20170131 1 900000000000207008 719204007 en 900000000000550004 A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date with clinical characteristics of dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis. 900000000000017005 3315414010 20170131 1 900000000000207008 719205008 en 900000000000550004 This syndrome has manifestations of the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive. 900000000000017005 3315419017 20170131 1 900000000000207008 719207000 en 900000000000550004 Disease with characteristics of early-onset cerebellar signs, eye movement abnormalities and pyramidal signs. Fifty-one clinically affected members from four families (of British, Pakistani, German and French descent) have been reported to date. The disease presents with the cerebellar signs such as dysarthria and progressive ataxia, eventually leading to difficulty walking and loss of balance as well as eye movement abnormalities (jerky pursuit, horizontal and vertical nystagmus and ophthalmoplegia). Caused by mutations in the tau tubulin kinase 2 TTBK2 gene (15q15.2). Inherited in autosomal dominant pattern. 900000000000017005 3315422015 20170131 1 900000000000207008 719208005 en 900000000000550004 Rare disease with manifestations of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported. Prevalence is unknown. Approximately 40 families have been reported. The pathogenesis seems to be related to a toxic effect at the RNA level as it is caused by a CAG expansion at the 5' end of the PPP2R2B gene on chromosome 5q31-5q32. 900000000000017005 3315425018 20170131 1 900000000000207008 719209002 en 900000000000550004 A very rare disease with onset in childhood of marked delayed motor and cognitive development followed by mild progression of cerebellar ataxia. Prevalence is unknown. Fewer than 20 cases have been reported to date. Although primarily a cerebellar syndrome, dysphagia, urinary urgency and bradykinesia have been described in affected patients older than 50. Mapped to chromosome 19q13.3-q13.4 and is known to be associated with two missense mutations in the KCNC3 gene. 900000000000017005 3315428016 20170131 1 900000000000207008 719210007 en 900000000000550004 A rare disease with manifestations of slowly progressive ataxia, dysarthria and nystagmus. The disease has been reported in more than twenty families from Europe, the United States, and Australia. Onset is usually in early adulthood while symptomatic disease onset may be from 10 to 70 years. In addition to cerebellar signs, hyperreflexia and decreased vibration sense are frequently observed. Caused by missense mutations in the PRKCG gene (19q13.4) encoding protein kinase C gamma (PKC-gamma). 900000000000017005 3315431015 20170131 1 900000000000207008 719211006 en 900000000000550004 This syndrome combines short stature, sparse hair, skin hyperpigmentation and urticaria-like reactions on the hands and arms. An upper central incisor, hypoplastic thumbs and/or palmoplantar hyperkeratosis may also be present. It is thought to be a rare form of ectodermal dysplasia and has been described at least once in a mother and her three sons. Transmission is autosomal dominant, or X-linked. 900000000000017005 3315434011 20170131 1 900000000000207008 719212004 en 900000000000550004 An X-linked mental retardation syndrome characterized by facial dysmorphism (slanted palpebral fissures, narrow face, micrognathia, patulous lower lip, flat or small philtrum, and alternating exotropia and ptosis), short stature, early hypotonia and later hypertonia, prominent upper central incisors, foot deformities (pes planus, metatarsus varus, equinovarus), psychomotor retardation and behavioral problems. Prevalence is unknown. Since its initial description in 1980, the disorder has been described in males from 11 families and in one isolated case. In most cases the syndrome is caused by mutations in the ATRX gene (Xq13.3), however, the causative gene in a large Chinese family has been mapped to a 19.8 Mb interval on Xq25. Transmission is X-linked recessive. 900000000000017005 3315435012 20170131 1 900000000000207008 719212004 en 900000000000550004 An X-linked mental retardation syndrome characterised by facial dysmorphism (slanted palpebral fissures, narrow face, micrognathia, patulous lower lip, flat or small philtrum, and alternating exotropia and ptosis), short stature, early hypotonia and later hypertonia, prominent upper central incisors, foot deformities (pes planus, metatarsus varus, equinovarus), psychomotor retardation and behavioural problems. Prevalence is unknown. Since its initial description in 1980, the disorder has been described in males from 11 families and in one isolated case. In most cases the syndrome is caused by mutations in the ATRX gene (Xq13.3), however, the causative gene in a large Chinese family has been mapped to a 19.8 Mb interval on Xq25. Transmission is X-linked recessive. 900000000000017005 3315439018 20170131 1 900000000000207008 719213009 en 900000000000550004 This syndrome has characteristics of short stature presenting in the neonatal period, associated with osteochondrodysplastic lesions and facial dysmorphism. It has been described in two members from the same family. 900000000000017005 3315595013 20170131 1 900000000000207008 719231005 en 900000000000550004 West Coast Informatics 900000000000017005 3315595013 20170731 0 900000000000207008 719231005 en 900000000000550004 West Coast Informatics 900000000000017005 3315682014 20170131 1 900000000000207008 719249005 en 900000000000550004 Disease with characteristics of a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity and epilepsy. Worldwide prevalence is unknown. Fewer than 100 families have been reported to date. Clinical features overlap with many neurodegenerative syndromes and specifically Huntington disease. Caused by a CAG repeat expansion in the TATA box-binding protein gene TBP (6q27). Prognosis is poor. More than 60% of patients present with dysphagia which frequently results in aspiration and death. Mean disease duration is less than 18 years and a few patients live beyond 60 years of age. 900000000000017005 3315685011 20170131 1 900000000000207008 719250005 en 900000000000550004 Disease with characteristics of sensory neuropathy and cerebellar ataxia. Prevalence is unknown. Only 26 cases in a 5-generation American family of Irish ancestry have been reported to date. Onset is in the second and third decades of life with symptomatic onset ranging from 13 to 27 years. Patients initially present with axonal sensory neuropathy, while cerebellar ataxia and motor neuron dysfunction develop later. Linked to chromosome 7q22-q23 but the responsible gene mutation has not yet been identified. 900000000000017005 3315688013 20170131 1 900000000000207008 719251009 en 900000000000550004 Disease with characteristics of mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor. Prevalence is unknown. Only 12 cases in a 5-generation Dutch family have been reported to date. SCA19 presents in the third decade of life with symptomatic disease onset ranging from 10 to 46 years. Onset symptoms of SCA22 overlap significantly with those of SCA19 but with a more narrow age range of 35 to 46 years. Linkage to locus 1p21-q21 has been proposed but the gene mutation has not been identified. 900000000000017005 3315691013 20170131 1 900000000000207008 719252002 en 900000000000550004 Disease with characteristics of early-onset tremor, dyskinesia and slowly progressive cerebellar ataxia. Fewer than 30 cases have been reported to date. This disease is caused by a mutation in the fibroblast growth factor 14 FGF14 gene (13q34). Prognosis is relatively good. Life-threatening status epilepticus and intractable seizure or severe dysphagia is rare. 900000000000017005 3315694017 20170131 1 900000000000207008 719253007 en 900000000000550004 A rare disease with characteristics of slowly progressive and relatively pure ataxia described in 6 patients from one Australian family to date. The disease presents with oculomotor dysfunction, moderate dysarthria, and ataxia that progresses slowly and eventually leads to mobility impairment. Some patients have also reported mild hyperreflexia in the lower limbs. Rare manifestations include gaze-evoked nystagmus and dystonia. The causal gene has not yet been identified but it has been linked to chromosome 4q34.3-q35.1. 900000000000017005 3315697012 20170131 1 900000000000207008 719254001 en 900000000000550004 Disease with characteristics of ataxia, cognitive impairment and azoospermia in males. Reported in one Chinese family to date. Disease onset occurs in adulthood with females more affected than males. Manifestations include cerebellar ataxia, cognitive impairment and in males, azoospermia. Cerebellar atrophy is visible with magnetic resonance imaging. The causal gene has not yet been identified but it is located to chromosome 7q32-q33. 900000000000017005 3315702015 20170131 1 900000000000207008 719255000 en 900000000000550004 Disease with characteristics of papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes. Reported in 25 members of one French-Canadian family to date. Due to a mutation in the ELOVL4 gene (6q14). 900000000000017005 3315710019 20170131 1 900000000000207008 719256004 en 900000000000550004 This syndrome has characteristics of pterygium colli, digital anomalies and craniofacial abnormalities. Digital anomalies include abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges. Craniofacial abnormalities include brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, prominent low-set and posteriorly rotated ears. It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant. 900000000000017005 3315714011 20170131 1 900000000000207008 719257008 en 900000000000550004 An extremely rare inborn error of sterol biosynthesis with manifestations of facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease. Only 4 cases have been reported in the literature to date. Lathosterolosis is due to mutations in the SC5D gene (11q23.3). A mutation in this gene leads to a deficiency in 3-beta-hydroxysteroid-delta-5-desaturase, which is necessary in the conversion of lathosterol into 7-dehydrocholesterol. This prevents the synthesis of cholesterol, which among other functions acts as a structural lipid, a precursor for bile acids and steroid hormones, and is necessary for the maturation of hedgehog morphogens during embryonic development. Inherited in an autosomal recessive manner. 900000000000017005 3315731016 20170131 1 900000000000207008 719258003 en 900000000000550004 Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis. The disease is very rare and only five cases (four males and one female) have been reported in the literature so far. Pyknoachondrogenesis may be detected prenatally due to the extreme shortening of the limbs and hydrops fetalis, or is recognized at birth. The main clinical manifestations include a large head, palpebral edema, a flat nose, low-set ears, a short neck, a short and wide trunk, a prominent abdomen, and severe micromelic dwarfism. Etiology remains unknown. Pyknoachondrogenesis has a lethal outcome, either prenatally or during the early neonatal period. 900000000000017005 3315732011 20170131 1 900000000000207008 719258003 en 900000000000550004 Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterised by severe generalised osteosclerosis. The disease is very rare and only five cases (four males and one female) have been reported in the literature so far. Pyknoachondrogenesis may be detected prenatally due to the extreme shortening of the limbs and hydrops fetalis, or is recognised at birth. The main clinical manifestations include a large head, palpebral oedema, a flat nose, low-set ears, a short neck, a short and wide trunk, a prominent abdomen, and severe micromelic dwarfism. Aetiology remains unknown. Pyknoachondrogenesis has a lethal outcome, either prenatally or during the early neonatal period. 900000000000017005 3315761012 20170131 1 900000000000207008 719266007 en 900000000000550004 An early-onset chorioretinal dystrophy with characteristics of large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision and slow disease progression. It has been described in two large families. Transmission is autosomal dominant and the causative gene has been mapped to a region on chromosome 6q, close to the macular dystrophy retinal 1 (MCDR1) locus. 900000000000017005 3315764016 20170131 1 900000000000207008 719267003 en 900000000000550004 Progressive cavitating leukoencephalopathy has characteristics of acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability. So far around 20 patients have been reported in the literature. Onset occurs in infancy or early childhood. The mode of transmission is autosomal recessive. 900000000000017005 3315769014 20170131 1 900000000000207008 719268008 en 900000000000550004 Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder with characteristics of the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features. Prevalence is unknown, but PAVF (mostly isolated cases) has been reported in approximately 80-100 cases. Neurological abnormalities are exceptional. PAVF can occur isolated or less frequently, as part of a syndrome. Syndrome associated manifestations include facial dysmorphism, absence of one cervical vertebrae, radio-ulnar synostosis, exostosis. 900000000000017005 3315788019 20170131 1 900000000000207008 719271000 en 900000000000550004 Progressive osseous heteroplasia (POH) is a rare genetic bone disorder with clinical characteristics of progressive extraskeletal bone formation presenting in early life with cutaneous ossification that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation. 900000000000017005 3315792014 20170131 1 900000000000207008 719272007 en 900000000000550004 An extremely rare disorder described in one family to date that has characteristics of progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation and mild cardiac hypertrophy. 900000000000017005 3315797015 20170131 1 900000000000207008 719274008 en 900000000000550004 Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone independent Cushing syndrome. The disease has characteristics of small to normal sized adrenal glands containing multiple small cortical pigmented nodules. A substantial proportion of patients present during early childhood (2-3 years). More than 90% of reported cases of PPNAD occur as one of the manifestations of Carney complex. The condition is inherited in an autosomal dominant manner and can be associated with mutations in the PRKAR1A, PDE11A and PDE8B genes. 900000000000017005 3315801019 20170131 1 900000000000207008 719275009 en 900000000000550004 This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia. So far, it has been described in seven patients from three families. Mullerian hypoplasia, absent or streak ovaries, hypoplastic internal genitalia and primary amenorrhea were described in the females. The male appeared to have germinal cell aplasia. All patients displayed partial scalp alopecia, and axillary and pubic hair was sparse or absent in the females but normal in the male patient. Additional findings in some of the female patients included sparse eyebrows, microcephaly, flat occiput, dorsal kyphosis and mild intellectual deficit. Transmission was autosomal recessive. 900000000000017005 3315802014 20170131 1 900000000000207008 719275009 en 900000000000550004 This syndrome is characterised by primary hypergonadotropic hypogonadism and partial alopecia. So far, it has been described in seven patients from three families. Mullerian hypoplasia, absent or streak ovaries, hypoplastic internal genitalia and primary amenorrhoea were described in the females. The male appeared to have germinal cell aplasia. All patients displayed partial scalp alopecia, and axillary and pubic hair was sparse or absent in the females but normal in the male patient. Additional findings in some of the female patients included sparse eyebrows, microcephaly, flat occiput, dorsal kyphosis and mild intellectual deficit. Transmission was autosomal recessive. 900000000000017005 3315807015 20170131 1 900000000000207008 719276005 en 900000000000550004 DYT4 type primary dystonia has characteristics of predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis). So far, the disease has been reported in one large Australian family. The age of onset varies from 13 to 37 years. The locus for DYT4 remains unknown. The disease is transmitted in an autosomal dominant manner. 900000000000017005 3315815017 20170131 1 900000000000207008 719278006 en 900000000000550004 DYT13 type primary dystonia has characteristics of focal or segmental dystonia with cranial, cervical, or upper limb involvement. It has been reported in individuals from three generations of one large Italian family. Age of onset varied between 5 years and adulthood. The clinical manifestations were generally mild and slowly progressive. The causative gene locus has been identified on chromosome 1p36.13-1p36.32. Transmitted in an autosomal dominant manner. 900000000000017005 3315829016 20170131 1 900000000000207008 719282008 en 900000000000550004 An X-linked ciliary dysfunction disorder of both the respiratory epithelium and photoreceptors of the retina. This leads to ocular problems including mild night blindness, constriction of the visual field and scotopic and photopic ERG responses reduced to 30-60%. It is also associated with primary ciliary dyskinesia manifestations including chronic bronchorrhea with bronchoectasis and chronic sinusitis along with sensorineural hearing loss. 900000000000017005 3315830014 20170131 1 900000000000207008 719282008 en 900000000000550004 An X-linked ciliary dysfunction disorder of both the respiratory epithelium and photoreceptors of the retina. This leads to ocular problems including mild night blindness, constriction of the visual field and scotopic and photopic ERG responses reduced to 30-60%. It is also associated with primary ciliary dyskinesia manifestations including chronic bronchorrhoea with bronchoectasis and chronic sinusitis along with sensorineural hearing loss. 900000000000017005 3315894019 20170131 1 900000000000207008 719296002 en 900000000000550004 A very rare form of stromal corneal dystrophy with characteristics of irregular amorphous sheet-like opacities in the posterior corneal stroma and in the Descemet membrane along with mildly impaired vision. Prevalence of this form of corneal dystrophy is not known. To date cases have been reported primarily in the USA. Patients usually develop corneal abnormalities in infancy or childhood. The condition is non-progressive or slowly progressive. Unlike other corneal dystrophies, non-corneal manifestations have been observed and include abnormalities of the iris including iridocorneal adhesions, corectopia, and pseudopolycoria. An autosomal dominant pattern of inheritance has been reported. 900000000000017005 3315897014 20170131 1 900000000000207008 719297006 en 900000000000550004 This syndrome is characterized by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far had good visual acuity until the onset of choroidal neovascularization or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision. 900000000000017005 3315898016 20170131 1 900000000000207008 719297006 en 900000000000550004 This syndrome is characterised by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far had good visual acuity until the onset of choroidal neovascularisation or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision. 900000000000017005 3315903017 20170131 1 900000000000207008 719298001 en 900000000000550004 A rare focal skeletal dysostosis with characteristics of symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis. Approximately 10 patients have been reported so far. Additional skeletal abnormalities may include hypoplasia of the clavicles, ribs, femora and fibula, together with spina bifida and prominent lumbar lordosis. Eye anomalies (coloboma of iris and retina) have occasionally been reported. Intelligence is described as normal. Pelvis-shoulder dysplasia seems to be a genetically heterogeneous disorder but no causative genes have been identified so far. 900000000000017005 3315908014 20170131 1 900000000000207008 719299009 en 900000000000550004 Syndrome with characteristics of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism. The facial dysmorphism has manifestations of frontal bossing, hypertelorism, narrow palpebral fissures, deep-set eyes, strabismus, low-set posteriorly rotated and malformed ears, dysplasia of conchae, a small chin, a short neck with redundant skin folds, and a low hairline. Intelligence may vary from normal to moderately impaired. Radiographic features comprise aplasia of the body of the scapula, hypoplasia of the iliac bone, humeroradial synostosis, dislocation of the femoral heads, and moderate brachydactyly. Mutations in the TBX15 gene have been identified as potentially causative. Pelviscapular dysplasia is phenotypically similar to pelvis-shoulder dysplasia. 900000000000017005 3315912015 20170131 1 900000000000207008 719300001 en 900000000000550004 Disease with characteristics of adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis. Reported in less than 20 cases from 3 Chinese families to date. No cognitive impairment is noted. Patients are usually wheelchair bound 10 years after the onset of symptoms. Caused by a mutation in the TGM6 gene (20p13) encoding transglutaminase 6 (TG6), a member of the transglutaminase family of enzymes. TG6 is expressed in the kidney, skin, eyes and neurons but the exact process that leads to this disease is unknown. Inherited autosomal dominantly. 900000000000017005 3315916017 20170131 1 900000000000207008 719301002 en 900000000000550004 Disease with characteristics of cerebellar syndrome along with altered vertical eye movements. Reported in nine members of Spanish kindred to date. Disease onset occurs in adulthood (from the ages of 38-64). Clinical manifestations are slowly progressive cerebellar ataxia (starting with falls, dysarthria and clumsiness followed by other cerebellar signs) along with altered vertical eye movements. The causal gene is unknown but it has been mapped to chromosome 1p32 and named the SCA37 locus. Inherited in an autosomal dominant manner. 900000000000017005 3315919012 20170131 1 900000000000207008 719302009 en 900000000000550004 Disease with characteristics of early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression.Three families have been reported to date. Clinical manifestations include cerebellar signs (ataxia, dysarthria, and intention tremor) and eye movement abnormalities such as gaze-evoked nystagmus, down beat nystagmus, and impaired smooth pursuit. Occasionally defects of the visual field and horizontal gaze palsy can be also present. Non-cerebellar signs such as facial myokymia, resting tremor, writer's cramp, impaired vibration sense and brisk deep tendon reflexes have been reported in some patients. Caused by mutations in the SPTBN2 gene (11q13.2) encoding beta-III spectrin, a protein essential for the correct functioning and development of Purkinje cells. Inherited autosomal dominantly. 900000000000017005 3315926012 20170131 1 900000000000207008 719304005 en 900000000000550004 Spondylometaphyseal dysplasia, Schmidt type has characteristics of short stature, myopia, small pelvis, progressive kyphoscoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet. This condition has been reported in five members of an Algerian family and one Polish boy. Autosomal dominant inheritance has been suggested, but the causative gene has not yet been identified. 900000000000017005 3315930010 20170131 1 900000000000207008 719305006 en 900000000000550004 This syndrome has characteristics of congenital conductive deafness due to stapes ankylosis, broad thumbs and first toes and hyperopia. So far, it has been described in multiple members of six families. Other skeletal malformations were also reported including short distal phalanges and syndactyly, but symphalangism is usually absent. Transmission is autosomal dominant and the syndrome is caused by mutations in the NOG gene (17q22). 900000000000017005 3316141019 20170131 1 900000000000207008 719377004 en 900000000000550004 A very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. It has been described in two siblings. Both brother and sister had psychomotor retardation and died in the course of a respiratory infection. The reported cases suggest that the condition is hereditary, and is transmitted as an autosomal recessive trait. 900000000000017005 3316146012 20170131 1 900000000000207008 719378009 en 900000000000550004 This syndrome has characteristics of profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait. 900000000000017005 3316151018 20170131 1 900000000000207008 719379001 en 900000000000550004 A very rare syndrome with the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. It has been described in three female siblings. Dysmorphic features were not characteristic. The condition seems to be hereditary, and transmitted as an autosomal recessive trait. Prognosis is poor and all children died in infancy. 900000000000017005 3316189011 20170131 1 900000000000207008 719380003 en 900000000000550004 Syndrome with characteristics of severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive. 900000000000017005 3316194011 20170131 1 900000000000207008 719394002 en 900000000000550004 This syndrome is characterised by the combination of microcephaly, cleft palate, and variable anomalies such as unusual facial appearance, hypotelorism, abnormal retinal pigmentation, maxillary hypoplasia, goitre, camptodactyly, mild intellectual deficit, and abnormal dermatoglyphics. It has been described only once; in two sisters and their mother. Although microcephaly and intellectual deficit are frequently associated with cleft palate, the other features of these patients are in favour of this syndrome being an entity per se. The mode of inheritance is autosomal or X-linked dominant. 900000000000017005 3316195012 20170131 1 900000000000207008 719394002 en 900000000000550004 This syndrome is characterized by the combination of microcephaly, cleft palate, and variable anomalies such as unusual facial appearance, hypotelorism, abnormal retinal pigmentation, maxillary hypoplasia, goiter, camptodactyly, mild intellectual deficit, and abnormal dermatoglyphics. It has been described only once; in two sisters and their mother. Although microcephaly and intellectual deficit are frequently associated with cleft palate, the other features of these patients are in favour of this syndrome being an entity per se. The mode of inheritance is autosomal or X-linked dominant. 900000000000017005 3316200015 20170131 1 900000000000207008 719395001 en 900000000000550004 A rare syndrome with characteristics of onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot and skeletal (hypoplastic thumbs and first metacarpals) abnormalities. 900000000000017005 3316200015 20210131 0 900000000000207008 719395001 en 900000000000550004 A rare syndrome with characteristics of onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot and skeletal (hypoplastic thumbs and first metacarpals) abnormalities. 900000000000017005 3316205013 20170131 1 900000000000207008 719396000 en 900000000000550004 This syndrome has characteristics of microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes). Hypotonia, pre and postnatal growth retardation, a characteristic face (broad forehead with a low frontal hair line, a broad nasal bridge and prominent columella, hypoplastic alae nasi, short philtrum, and a straight mouth with thin lips and downward slanting palpebral fissures) and optic atrophy were also reported. 900000000000017005 3316209019 20170131 1 900000000000207008 719397009 en 900000000000550004 A rare skeletal disease with characteristics of symmetric shortening of the middle segments of limbs and short stature. It has been described in five families. In the upper limbs, the ulnae are very short, and the radii are bowed. The distal humerus has a dumbbell shape. The hands show progressive flexion contractures of the proximal interphalangeal joints. In the lower limbs, feet are fixed in plantar flexion so that the patients walk on their toe tips. All affected patients have normal craniofacial features and intelligence. Two micro duplications have been identified on chromosome 2 (2q31.1-q31.2), separated by a segment of normal copy number. In all families, the condition is transmitted as an autosomal dominant trait. 900000000000017005 3316214015 20170131 1 900000000000207008 719398004 en 900000000000550004 An extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date with the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988. 900000000000017005 3316219013 20170131 1 900000000000207008 719400000 en 900000000000550004 Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome. It was described only once, in 1975, in 3 affected males in a sibship of 13, from second-cousin parents. Patients were all of low birth weight, had microretrognathia, microstomia, and microglossia, hypoplasia of the radius and ulna with radial deviation of the hands, simian creases and hypoplasia of fingers I and V, hypoplasia of the fibula and tibia with talipes and wide space between toes I and II, and severe malformation of the left heart which may have been responsible for death of all 3 in the first week or so of life. 900000000000017005 3316226013 20170131 1 900000000000207008 719402008 en 900000000000550004 Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. 900000000000017005 3316227016 20170131 1 900000000000207008 719402008 en 900000000000550004 Waters-West syndrome is characterised by the association of lethal non-spherocytic, non-immune haemolytic anaemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. 900000000000017005 3316230011 20170131 1 900000000000207008 719403003 en 900000000000550004 This disease is a non-progressive neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. 900000000000017005 3316234019 20170131 1 900000000000207008 719404009 en 900000000000550004 An extremely rare lethal form of chondrodysplasia with characteristics of severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988. 900000000000017005 3316237014 20170131 1 900000000000207008 719405005 en 900000000000550004 The association of leukoencephalopathy and metaphyseal chondrodysplasia has been reported in four men from a three-generation family. Onset manifests by spastic paraplegia at the age of 2, followed by tremor, ataxia, optic atrophy, and spastic tetraparesis. Transmission is X-linked and the gene responsible of the disease may be located at Xq25-q27. 900000000000017005 3316245016 20170131 1 900000000000207008 719408007 en 900000000000550004 Syndrome with the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. This syndrome is likely to be inherited as an autosomal recessive condition. 900000000000017005 3316248019 20170131 1 900000000000207008 719409004 en 900000000000550004 Larsen-like syndrome, lethal type, has characteristics of multiple joint dislocation and respiratory insufficiency due to tracheomalacia and or lung hypoplasia. It has been described in less than ten patients. Transmission is thought to be autosomal recessive. Brain dysplasia has been described in some patients. Genetic factors have not been ruled out. 900000000000017005 3316263016 20170131 1 900000000000207008 719306007 en 900000000000550004 The syndrome is characterized by generalized multiple steatocystoma and natal teeth. It has been described in a five-generation Chinese family with at least 21 affected patients. The same condition has been reported in one additional sporadic case. Autosomal dominant inheritance has been suggested. 900000000000017005 3316264010 20170131 1 900000000000207008 719306007 en 900000000000550004 The syndrome is characterised by generalised multiple steatocystoma and natal teeth. It has been described in a five-generation Chinese family with at least 21 affected patients. The same condition has been reported in one additional sporadic case. Autosomal dominant inheritance has been suggested. 900000000000017005 3316305011 20170131 1 900000000000207008 719425009 en 900000000000550004 The sudden, unexpected, witnessed or unwitnessed, non-traumatic, and non-drowning death in patients with epilepsy with or without evidence for a seizure, and excluding documented status epilepticus, in which postmortem examination does not reveal a structural or toxicological cause for death. 900000000000017005 3316316016 20170131 1 900000000000207008 719429003 en 900000000000550004 The association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans. So far, only eight cases have been described in the literature. Other clinical features may include palmoplantar hyperkeratosis, nail dystrophy, intellectual deficit and hypodontia. Transmission is autosomal recessive. 900000000000017005 3316319011 20170131 1 900000000000207008 719430008 en 900000000000550004 Leber plus disease describes patients with the clinical features of Leber's hereditary optic neuropathy in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally inherited mitochondrial DNA (mtDNA) mutations. 900000000000017005 3316322013 20170131 1 900000000000207008 719431007 en 900000000000550004 An inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease. 900000000000017005 3316323015 20170131 1 900000000000207008 719431007 en 900000000000550004 An inherited retinal dystrophy characterised by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularisation and glaucoma may occur in the late stages of the disease. 900000000000017005 3316326011 20170131 1 900000000000207008 719432000 en 900000000000550004 A subtype of junctional epidermolysis bullosa the condition occurs in childhood or young adulthood. 22 patients in 12 families have been reported to date. Blistering occurs at first around nails, accompanied by nail dystrophy and shedding, and then affects the hands and feet and, to a lesser extent, the elbows, knees, along with atrophic scarring. Other manifestations include disappearance of dermatoglyphs and palmoplantar hyperhidrosis. Extracutaneous involvement is restricted to soft tissue abnormalities of the oral cavity and enamel defects with development of caries. COL17A1 mutations have recently been described in an affected family. The condition follows an autosomal recessive pattern of inheritance. 900000000000017005 3316361017 20170131 1 900000000000207008 414492009 en 900000000000550004 Inflammation of skin adjacent to an infectious site by autoinoculation; appears as eczematous plaque with or without vesicles. 900000000000017005 3316397014 20170131 1 900000000000207008 719449007 en 900000000000550004 An extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. 900000000000017005 3316398016 20170131 1 900000000000207008 719449007 en 900000000000550004 An extremely rare autosomal recessive glycine metabolism disorder characterised clinically in the single reported case to date by muscle fatigue and a fish-like odour. 900000000000017005 3316403015 20170131 1 900000000000207008 719450007 en 900000000000550004 A rare association of malformations described in only three patients including two siblings. The first patient had profound intellectual deficit and clinical features including short stature, coarse face, deep-set eyes, microphthalmia, large ears, gynoid obesity, imperforate anus, sacral spina bifida, pseudovaginal perineoscrotal hypospadias, persistence of Mullerian structures, and low gonadotrophin levels. His XY sibling was raised as a girl, was slightly mentally impaired and had microphthalmia and large ears and short stature. The third patient had severe hearing loss, ocular colobomata, hypogonadism of central origin, distinct craniofacial features and skeletal anomalies with cervical spina bifida, hyperkyphosis and thoracic deformity. All patients had a normal 46, XY karyotype. Inheritance could be either autosomal recessive or X-linked. 900000000000017005 3316409016 20170131 1 900000000000207008 719451006 en 900000000000550004 Syndrome that associates dilated cardiomyopathy with hypergonadotropic hypogonadism. Prevalence is unknown but less than 20 affected families have been described in the literature so far. Occasional findings include a broad nasal base, blepharoptosis, mild intellectual deficit, mild skeletal anomalies and metabolic abnormalities. Mutations in the LMNA gene were recently detected in two sisters with an overlapping clinical phenotype but with additional findings that included a narrow chest, sloping shoulders, aged appearance of the hands and feet and facial dysmorphism (beaked nose and severe retrognathia). Transmission appears to be autosomal recessive. 900000000000017005 3316418019 20170131 1 900000000000207008 719453009 en 900000000000550004 A newly discovered form of congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth. Only 4 cases have been reported to date. Hepatomegaly, splenomegaly, jaundice, hypertrophic cardiomyopathy, and occasional dysmorphic features have also been reported. Caused by mutations in the KLF1 gene (19p13.2), encoding an erythroid transcription factor that plays a fundamental role in the expression of globin genes and also additional genes that may be involved in erythropoiesis. Inherited in an autosomal dominant manner. 900000000000017005 3316419010 20170131 1 900000000000207008 719453009 en 900000000000550004 A newly discovered form of congenital dyserythropoietic anaemia characterised by ineffective erythropoiesis and haemolysis that leads to severe anaemia at birth. Only 4 cases have been reported to date. Hepatomegaly, splenomegaly, jaundice, hypertrophic cardiomyopathy, and occasional dysmorphic features have also been reported. Caused by mutations in the KLF1 gene (19p13.2), encoding an erythroid transcription factor that plays a fundamental role in the expression of globin genes and also additional genes that may be involved in erythropoiesis. Inherited in an autosomal dominant manner. 900000000000017005 3316423019 20170131 1 900000000000207008 719454003 en 900000000000550004 A severe anomaly of bile acid synthesis with manifestation of severe neonatal cholestatic liver disease. To date, only 2 cases of this disorder have been reported. Caused by mutations in the 7-alpha hydroxylase gene (CYP7B1, 8q21.3). The deficiency in oxysterol 7-alpha-hydroxylation leads to the accumulation of hepatotoxic unsaturated monohydroxy bile acids. The mode of transmission is presumed to be autosomal recessive. 900000000000017005 3316427018 20170131 1 900000000000207008 719455002 en 900000000000550004 Cone dystrophy with supernormal rod response is an inherited retinopathy, with an onset in the first or second decade of life. The disease has characteristics of poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia and occasionally nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of the disease is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation. 900000000000017005 3316433010 20170131 1 900000000000207008 719456001 en 900000000000550004 A multiple congenital anomaly syndrome described in 5 patients to date. Characteristics include flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects, which were lethal in 3 of the 5 patients. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997. 900000000000017005 3316453014 20170131 1 900000000000207008 719466009 en 900000000000550004 A multiple congenital anomalies syndrome described in a father and son with the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993. 900000000000017005 3316457010 20170131 1 900000000000207008 719468005 en 900000000000550004 Syndrome with characteristics of cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971. 900000000000017005 3316470018 20170131 1 900000000000207008 719471002 en 900000000000550004 A rhizo-mesomelic dysplasia with characteristics of rhizomelic short stature in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. The syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988. 900000000000017005 3316491014 20170131 1 900000000000207008 719475006 en 900000000000550004 CLOVE syndrome has characteristics of congenital lipomatous overgrowth, progressive, complex and mixed truncal vascular malformations and epidermal nevi. To date, less than 15 cases have been reported in the literature. Patients also present with disproportionate fat distribution. CLOVE syndrome may be associated with varying degrees of scoliosis and enlarged bony structures without progressive bony overgrowth. The presence of scoliosis/skeletal manifestations has led to the suggestion that the acronym CLOVE should be expanded to CLOVES. 900000000000017005 3316577017 20170131 1 900000000000207008 154091000119106 en 900000000000550004 Decline of physiological, mental or physical functional process applied to any age range and any baseline status. 900000000000017005 3316640017 20170131 1 900000000000207008 719510006 en 900000000000550004 A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with symmetric weakness primarily occurring in the lower limbs and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. Presents with gait anomaly between the first and sixth decade and early onset is generally associated to a more severe phenotype that may include foot drop. 900000000000017005 3316643015 20170131 1 900000000000207008 719511005 en 900000000000550004 A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with onset associated with development of foot deformity and walking difficulties between the first and the eighth decades. Weakness and sensory loss involve primarily the legs and ankles, tendon reflexes are reduced. The disease has a slowly progressive course. 900000000000017005 3316646011 20170131 1 900000000000207008 719512003 en 900000000000550004 A rare form of axonal Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy with characteristics of a mild phenotype, onset during the second decade of life and very slow progression. Walking ability is retained. Caused by mutations in the GDAP1 gene (8q13.3), encoding a protein required for mitochondrial fission. 900000000000017005 3316649016 20170131 1 900000000000207008 719513008 en 900000000000550004 A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow. 900000000000017005 3316652012 20170131 1 900000000000207008 719514002 en 900000000000550004 A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy with characteristics of congenital pstosis and early cataract. Associated with a mildly progressive peripheral neuropathy of variable onset from birth to the sixth decade, pes cavus, reduced to absent ankle tendon reflexes and sometimes neutropenia. 900000000000017005 3316655014 20170131 1 900000000000207008 719515001 en 900000000000550004 A mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with characteristics of distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow. 900000000000017005 3316658011 20170131 1 900000000000207008 719516000 en 900000000000550004 A form of focal dystonia with characteristics of cervical, laryngeal and hand-forearm dystonia. 900000000000017005 3316662017 20170131 1 900000000000207008 719517009 en 900000000000550004 A form of autosomal dominant optic atrophy with characteristics of early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. Caused by mutations in the OPA3 gene (19q13.32). 900000000000017005 3316666019 20170131 1 900000000000207008 719518004 en 900000000000550004 A rare genetic skin disorder with the absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. To date, ten individuals have been reported. Usually presents during infancy with manifestations of fading of facial, scalp and body hair within the first months of life without subsequent re-growth. Body and facial keratosis pilaris are additional features that appear in the following years. Palmoplantar keratoderma develops during infancy and may have an unusual pattern. The genetic basis is unknown. Transmission appears to be autosomal dominant. 900000000000017005 3316669014 20170131 1 900000000000207008 719519007 en 900000000000550004 This syndrome has characteristics of slowly progressive unilateral exophthalmos and ipsilateral mucosal turbinate hypertrophy, without intraorbital or intranasal lesions. Only four cases have been described so far. Treatment with a corticoid nasal spray led to regression of the exophthalmos within several days. 900000000000017005 3316669014 20190731 0 900000000000207008 719519007 en 900000000000550004 This syndrome has characteristics of slowly progressive unilateral exophthalmos and ipsilateral mucosal turbinate hypertrophy, without intraorbital or intranasal lesions. Only four cases have been described so far. Treatment with a corticoid nasal spray led to regression of the exophthalmos within several days. 900000000000017005 3316672019 20170131 1 900000000000207008 719520001 en 900000000000550004 A progressive autosomal dominant macular dystrophy with characteristics of parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull’s eye configuration. 900000000000017005 3316672019 20210131 0 900000000000207008 719520001 en 900000000000550004 A progressive autosomal dominant macular dystrophy with characteristics of parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull’s eye configuration. 900000000000017005 3316675017 20170131 1 900000000000207008 719521002 en 900000000000550004 A rare functional disorder with recurrent episodes of torticollis posturing of the head (inclination or tilting of the head to one side) in healthy children. The prevalence is unknown and the benign nature of the disorder probably means that it is under reported. Onset occurs within the first year of life with episodes occurring between every few weeks and every few months. The duration of the torticollis varies between patients, but usually lasts from a few hours to a few days. The frequency and duration of the torticollis episodes decrease as the patient gets older and episodes usually stop completely by 5 years of age. The disorder usually occurs sporadically, but familial occurrence has been reported. 900000000000017005 3316820010 20170131 1 900000000000207008 719582007 en 900000000000550004 This syndrome has characteristics of variable psychomotor delay and dysmorphic features. It has been recently described in less than ten patients. Clinical presentation is variable but it is possible to delineate a common clinical spectrum comprising mild to moderate psychomotor delay, hypotonia and discrete craniofacial dysmorphic features including a high forehead with frontal bossing, a small nose and a small mouth. The microduplication encompasses the same region that is deleted in Miller-Dieker (17p13 deletion) syndrome. The variable size of this de novo duplication indicates that mechanisms other than nonallelic homologous recombination may be responsible. 900000000000017005 3316946013 20170131 1 900000000000207008 719563003 en 900000000000550004 A sighted guide is a person that escorts a visually impaired individual and assists them with for example reading of signs. 900000000000017005 3316966016 20170131 1 900000000000207008 719572006 en 900000000000550004 Review of proposed plans for housing adaptation to ensure that the changing needs of occupants are met across their lifetime. 900000000000017005 3316972016 20170131 1 900000000000207008 719576009 en 900000000000550004 A recently described syndrome with characteristics of developmental delay and facial dysmorphism. Facial features include flat facies, downslanting palpebral fissures, low-set and malformed ears. Orofacial clefting, heart defects, short stature, feeding difficulties and hypotonia can be observed. This syndrome is caused by an interstitial deletion encompassing 16p11.2-p12.2. These deletions arise de novo and are flanked by segmental duplications suggesting that the underlying mechanism is non-allelic homologous recombination. 900000000000017005 3316976018 20170131 1 900000000000207008 719577000 en 900000000000550004 A recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems. Facial features include down-slanting palpebral fissures, short nose, low-set ears, wide mouth and thin upper lip. Variable congenital anomalies can also be observed. This syndrome is caused by an interstitial deletion encompassing 16p13.11. The underlying mechanism is non-allelic homologous recombination. Microdeletions appear de novo or are inherited from mildly affected or completely normal parents in an autosomal dominant manner, suggesting that the microdeletion has incomplete penetrance and variable expressivity. 900000000000017005 3316977010 20170131 1 900000000000207008 719577000 en 900000000000550004 A recently described syndrome characterised by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioural problems. Facial features include down-slanting palpebral fissures, short nose, low-set ears, wide mouth and thin upper lip. Variable congenital anomalies can also be observed. This syndrome is caused by an interstitial deletion encompassing 16p13.11. The underlying mechanism is non-allelic homologous recombination. Microdeletions appear de novo or are inherited from mildly affected or completely normal parents in an autosomal dominant manner, suggesting that the microdeletion has incomplete penetrance and variable expressivity. 900000000000017005 3316979013 20170131 1 900000000000207008 719427001 en 900000000000550004 Syndrome characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown. The clinical picture is highly variable even within the same family. Paternal duplications are rarely symptomatic (developmental delay/ behavioral disorders). The syndrome is due to interstitial duplications that encompass the imprinted Prader-Willi/Angelman critical region, of which deletions lead to Prader-Willi and Angelman syndromes. The causative genes are imprinted and expressed from the maternal allele. 900000000000017005 3316980011 20170131 1 900000000000207008 719427001 en 900000000000550004 Syndrome characterised by neurobehavioural disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown. The clinical picture is highly variable even within the same family. Paternal duplications are rarely symptomatic (developmental delay/ behavioural disorders). The syndrome is due to interstitial duplications that encompass the imprinted Prader-Willi/Angelman critical region, of which deletions lead to Prader-Willi and Angelman syndromes. The causative genes are imprinted and expressed from the maternal allele. 900000000000017005 3316987014 20170131 1 900000000000207008 719578005 en 900000000000550004 A recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. This syndrome is caused by interstitial duplications encompassing 16p13.11. The size of the rearrangements is variable. The underlying mechanism is non-allelic homologous recombination. The microduplications appear de novo or are inherited from mildly affected or completely normal parents, suggesting that the microduplication has incomplete penetrance and variable expressivity. As the duplication is present in phenotypically normal parents of patients, as well as in the general population, the clinical significance of the 16p13.11 microduplication is still unclear. 900000000000017005 3316988016 20170131 1 900000000000207008 719578005 en 900000000000550004 A recently described syndrome associated with variable clinical features including behavioural abnormalities, developmental delay, congenital heart defects and skeletal anomalies. This syndrome is caused by interstitial duplications encompassing 16p13.11. The size of the rearrangements is variable. The underlying mechanism is non-allelic homologous recombination. The microduplications appear de novo or are inherited from mildly affected or completely normal parents, suggesting that the microduplication has incomplete penetrance and variable expressivity. As the duplication is present in phenotypically normal parents of patients, as well as in the general population, the clinical significance of the 16p13.11 microduplication is still unclear. 900000000000017005 3316992011 20170131 1 900000000000207008 719580004 en 900000000000550004 A recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. This syndrome is caused by an interstitial deletion encompassing 16q24.3. They vary in size the common region of overlap is only 90 kb and comprises two candidates genes, ANKRD11 (Ankyrin Repeat Domain 11) and ZNF778 (Zinc Finger 778). 900000000000017005 3317001017 20170131 1 900000000000207008 719583002 en 900000000000550004 Syndrome that has characteristics of dysmorphic features and intellectual deficit. It has been described in seven patients within one family. 17q11.2 microduplication encompasses the NF1 region. The underlying mechanism may be non-allelic homologous recombination. The study of pedigree suggests that this microduplication segregates within the family for at least two generations. Two patients displayed a normal clinical presentation, suggesting an autosomal dominant pattern of inheritance with incomplete penetrance. 900000000000017005 3317006010 20170131 1 900000000000207008 719584008 en 900000000000550004 A recently described syndrome with characteristics of developmental delay, microcephaly, short stature, heart defects and limb abnormalities. The syndrome is caused by an interstitial deletion encompassing 17q23.1q23.2. The underlying mechanism is non-allelic homologous recombination. Parental FISH testing in five of the seven cases confirmed a de novo origin. The minimal deletion region of 2.2 Mb encompasses 2 transcription factors, TBX2 and TBX4, which are good candidate genes for explaining the phenotype. 900000000000017005 3317080018 20170131 1 900000000000207008 719595002 en 900000000000550004 This syndrome has characteristics of neonatal blisters, milia and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait. 900000000000017005 3317086012 20170131 1 900000000000207008 719597005 en 900000000000550004 A newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. It has been reported in 6 patients to date. Facial dysmorphism includes brachycephaly, anteverted nares and ear malformations. Cardiac defects and abnormal behavior characterized by auto and hetero-aggressivity and hyperactivity can be observed. This interstitial microdeletion was identified by comparative genomic hybridization microarray and its size is variable. 900000000000017005 3317087015 20170131 1 900000000000207008 719597005 en 900000000000550004 A newly described syndrome characterised by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. It has been reported in 6 patients to date. Facial dysmorphism includes brachycephaly, anteverted nares and ear malformations. Cardiac defects and abnormal behaviour characterised by auto and hetero-aggressivity and hyperactivity can be observed. This interstitial microdeletion was identified by comparative genomic hybridisation microarray and its size is variable. 900000000000017005 3317095016 20170131 1 900000000000207008 719599008 en 900000000000550004 The 19q13.11 microdeletion has characteristics of several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplastic nails. To date, the syndrome has been identified in five patients. Haploinsufficiency of one or more genes in the 19q13.11 region could cause this microdeletion syndrome. 900000000000017005 3317107016 20170131 1 900000000000207008 719600006 en 900000000000550004 An extremely rare chromosomal anomaly with characteristics of severe speech and language delay, intellectual deficiency, autism spectrum disorder. Less than 10 cases have been reported to date. The syndrome is caused by a hemizygous interstitial microdeletion on the short arm of chromosome 1, occurring mostly de novo, that implicates DPYD (dihydropyrimidine dehydrogenase) and MIR137 genes associated with miRNA pathways. 900000000000017005 3317242013 20170131 1 900000000000207008 719649004 en 900000000000550004 A newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia. It has been reported in four unrelated patients. The most common facial features include microcephaly, hypertelorism and thin upper lip. An abnormal corpus callosum (agenesis, hypogenesis or slightly reduced thickness) is observed in all affected patients. 900000000000017005 3317246011 20170131 1 900000000000207008 719650004 en 900000000000550004 A recently described syndrome with characteristics of Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. Dysmorphic features include macrocephaly, hypertelorism, down-slanting palpebral fissures and microstomia. This syndrome is caused by an interstitial deletion encompassing 20p12.3. All these deletions except one occurred de novo and have a variable size with the smallest region of overlap including only one gene, BMP2, which is a good candidate gene for explaining the phenotype of Wolff-Parkinson-White syndrome. 900000000000017005 3317250016 20170131 1 900000000000207008 719651000 en 900000000000550004 A recently described syndrome with characteristics of developmental delay and facial dysmorphism. Dysmorphic features include receding forehead, telecanthus, epicanthic fold, short and down-slanting palpebral fissures, ptosis, broad and high nasal bridge, retrognathia, flat philtrum, small mouth with high, narrow palate and everted lower lip. This syndrome is caused by an interstitial deletion 2p15p16.1 (present in mosaic in one patient). These de novo deletions have a variable size from 570 kb to 5.7 Mb and encompass several genes. Haploinsufficiency of these genes could contribute to the phenotype. 900000000000017005 3317254013 20170131 1 900000000000207008 719652007 en 900000000000550004 The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. It has been described in seven patients from three families of a small Bedouin clan. Dysmorphic features include frontal bossing, almond-shaped eyes, long eyelashes, depressed nasal bridge, and large, posteriorly rotated ears. Renal lithiasis occurs at an early age in all patients. Reduced activity of the respiratory chain complexes I, III, IV and V was found in patients examined. The syndrome is caused by homozygous deletion of at least four contiguous genes on chromosome 2: SLC3A1, PREPL, PPM1B and C2orf34 (2p21). 900000000000017005 3317255014 20170131 1 900000000000207008 719652007 en 900000000000550004 The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidaemia. It has been described in seven patients from three families of a small Bedouin clan. Dysmorphic features include frontal bossing, almond-shaped eyes, long eyelashes, depressed nasal bridge, and large, posteriorly rotated ears. Renal lithiasis occurs at an early age in all patients. Reduced activity of the respiratory chain complexes I, III, IV and V was found in patients examined. The syndrome is caused by homozygous deletion of at least four contiguous genes on chromosome 2: SLC3A1, PREPL, PPM1B and C2orf34 (2p21). 900000000000017005 3317271014 20170131 1 900000000000207008 719657001 en 900000000000550004 The newly described syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. To date, fifteen patients have been reported. Dysmorphic features include microcephaly, wide and open mouth, a tented upper lip, and prominent incisors. The majority of cases present with stereotypic repetitive behavior, disturbed sleep pattern and a broad-based gait. Skeletal abnormalities include generalized brachydactyly with small hands and feet. The size of the deletions is variable the critical region includes a single gene, MBD5. 900000000000017005 3317272019 20170131 1 900000000000207008 719657001 en 900000000000550004 The newly described syndrome includes severe intellectual deficit with pronounced speech delay, behavioural abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. To date, fifteen patients have been reported. Dysmorphic features include microcephaly, wide and open mouth, a tented upper lip, and prominent incisors. The majority of cases present with stereotypic repetitive behaviour, disturbed sleep pattern and a broad-based gait. Skeletal abnormalities include generalised brachydactyly with small hands and feet. The size of the deletions is variable the critical region includes a single gene, MBD5. 900000000000017005 3317276016 20170131 1 900000000000207008 719658006 en 900000000000550004 A chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 with clinical characteristics of a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism. 900000000000017005 3317280014 20170131 1 900000000000207008 719659003 en 900000000000550004 A recently described syndrome with characteristics of a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features. It has been described in fewer than 25 patients to date. Facial features include downslanting palpebral fissures, low-set ears and prominent nasal bridge. Most patients also have a high-arched palate or cleft palate. Some individuals have an ectodermal dysplasia-like phenotype, with thin, transparent skin and abnormalities of the hair and teeth. The size of the deletions is variable from 35 kb to 10.4 Mb. Haploinsufficiency of SATB2 is responsible for several of the clinical features. 900000000000017005 3317284017 20170131 1 900000000000207008 719660008 en 900000000000550004 A newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech. It has been reported in nine unrelated patients. The most common facial feature includes high or broad forehead, hypertelorism and short philtrum. Short hands and feet are frequently observed. The microdeletion critical region encompasses two candidate genes, PRKG2 and RASGEF1B, in which haploinsufficiency could participate to the phenotype. 900000000000017005 3317288019 20170131 1 900000000000207008 719661007 en 900000000000550004 The newly described syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. To date, fourteen patients have been reported. Miscellaneous dysmorphic facial features are present in all cases, but some common features are noticed, high and wide forehead, pronounced eyebrows, anteverted nostrils, short and prominent philtrum, down-turned corners of the mouth and small chin. Stereotypic movements and poor eye contact are present in many patients, suggesting the diagnosis of autism spectrum disorder. The size of deletions varies, the minimal common deleted region encompasses only MEF2C, suggesting that haploinsufficiency of MEF2C is responsible for the phenotype. 900000000000017005 3317292014 20170131 1 900000000000207008 719662000 en 900000000000550004 A newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations. Eight cases have been reported to date. The most common facial features include eye anomalies: strabismus, deeply set eyes, and epicanthic folds and ear anomalies such as over-folded helices and low-set ears. Reported patients have deletions of variable size. The critical region for the 6p22 deletion phenotype is 2.2 Mb and encompasses 12 genes; their function is still largely unknown. 900000000000017005 3317296012 20170131 1 900000000000207008 719663005 en 900000000000550004 A recently described syndrome with characteristics of developmental delay, facial dysmorphism and hearing loss. It has been diagnosed in 4 patients. All of them presented with microcephaly, developmental delay, dysmorphic features and hearing loss, two of them had agenesis of the corpus callosum. Dysmorphic features include midface hypoplasia, hypertelorism, broad nasal root and posteriorly rotated ears.This syndrome is caused by an interstitial deletion encompassing 6q25.2-q25.3. These de novo deletions have a variable size with the smallest region of overlap of 3.52 Mb. 900000000000017005 3317301012 20170131 1 900000000000207008 719664004 en 900000000000550004 A rare microdeletion syndrome associated with a distinct facial appearance. It has been reported in four unrelated patients. A mask-like facial appearance is the most characteristic feature with blepharophimosis, tight appearing glistening facial skin, flat and broad nose, dysplastic ears and unusual scalp hair pattern. Camptodactyly, joint contractures, unusual dentition and mild developmental delay can be observed. Cryptorchidism in boys and a happy disposition are constant. 900000000000017005 3317305015 20170131 1 900000000000207008 719665003 en 900000000000550004 The newly described syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation. It has been reported in two unrelated patients. There is no remarkable facial dysmorphism. The clinical picture is opposite to that of patients with Sotos syndrome. The breakpoints of the duplication in both patients map to the proximal and distal low-copy repeats which flank the Sotos critical region. These findings support a non-allelic homologous recombination as the mechanism of duplication, and a dosage effect of the Sotos gene NSD1 (5q35). 900000000000017005 3317318011 20170131 1 900000000000207008 719567002 en 900000000000550004 Review of new housing to ensure that the changing needs of occupants are met across their lifetime. 900000000000017005 3317334014 20170131 1 900000000000207008 38371006 en 900000000000550004 Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly. Various anomalies of the breasts and nipples, and variable involvement of the hand and forearm (some patients having normal hands) have also been reported. The absence of other muscles around the shoulder girdle is a frequent feature. The syndrome is thought to be of vascular origin, for example a result of a disruption in the blood supply in the subclavian artery. Poland syndrome is most commonly a sporadic condition, but rare familial cases have been reported, compatible with an autosomal dominant mode of inheritance. 900000000000017005 3317354010 20170131 1 900000000000207008 719666002 en 900000000000550004 Syndrome marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations. Isolated terminal 6q deletion syndrome is very rare with less than 20 cases being reported in the literature. The most frequent craniofacial anomalies include microcephaly, broad nose with prominent nasal root and bulbous nasal tip, large ears that may be malformed and low-set and a characteristic downturned mouth. The most commonly described neurological features are psychomotor retardation, hypotonia and seizures. Retinal anomalies are also common. The breakpoints are located between chromosome regions 6q25.3 and 6q26, within the fragile site FRA6E. 900000000000017005 3317381010 20170131 1 900000000000207008 24878005 en 900000000000550004 Surgery performed to "fix" atypical or ambiguous genitalia, a form of genital reconstructive surgery, primarily for the purposes of making the appearance more normal and to reduce the likelihood of future problems. 900000000000017005 3317391016 20170131 1 900000000000207008 719670005 en 900000000000550004 Surgical procedure (or procedures) by which a transgender person's physical appearance and function of their existing sexual characteristics are altered to resemble that of their identified gender. 900000000000017005 3317470013 20170131 1 900000000000207008 719575008 en 900000000000550004 A recently described syndrome with characteristics of developmental delay, short stature and facial dysmorphism. Dysmorphic features include bi-temporal narrowing, smooth philtrum, pointed chin and dysmorphic ears. All reported patients had a cleft palate, whereas congenital heart defects or epilepsy are observed in patients with large deletions. Deletions are located within chromosome band 15q14, distal to the Prader-Willi/Angelman region. They have a variable size with the smallest deletion being 1.6 Mb in length. 900000000000017005 3317471012 20170131 1 900000000000207008 719568007 en 900000000000550004 Review of proposed architectural plan for new housing to ensure that the changing needs of occupants are met across their lifetime. 900000000000017005 3317472017 20170131 1 900000000000207008 719571004 en 900000000000550004 Review of adaptations made to housing to ensure that the changing needs of occupants are met across their lifetime. 900000000000017005 3317473010 20170131 1 900000000000207008 719569004 en 900000000000550004 A visit to view new housing in order to ensure that the changing needs of occupants are met across their lifetime. 900000000000017005 3317477011 20170131 1 900000000000207008 719646006 en 900000000000550004 A contiguous gene syndrome with characteristics of the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism. It has been described in 8 patients to date. Common dysmorphic features include micrognathia, microcephaly, preauricular pits, high-arched palate and abnormal ears. All patients except one have intellectual deficit. The syndrome is caused by deletions of the proximal part of the short arm of chromosome 8 (8p11.1 to 8p21). The deletions can be cytogenetically detected and their size is variable. The loss of the ankyrin-1 gene (ANK1) results in congenital spherocytosis. 900000000000017005 3317481011 20170131 1 900000000000207008 719684000 en 900000000000550004 Syndrome associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy and Duane anomaly. It has been described in two patients. The lack of recurrent breakpoints in these two cases and the absence of any low-copy repeats pairs that flank these de novo events do not support non-allelic homologous recombination as the mutation mechanism. The 8q12 region includes CHD7 and it is proposed that this gene, associated with CHARGE syndrome by haploinsufficiency, causes a different phenotype by gain-of-dosage. 900000000000017005 3317484015 20170131 1 900000000000207008 719685004 en 900000000000550004 An exceedingly rare autosomal recessive immune disease with characteristics of thumb aplasia, short stature with skeletal abnormalities and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. 900000000000017005 3317489013 20170131 1 900000000000207008 719686003 en 900000000000550004 A rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13. Around 50 cases of pure distal monosomy 10p have been reported. The phenotype remains unclear: low birth weight, persistent growth delay, mild psychomotor retardation and hypotonia have been reported, together with single reports of ventricular septal defect, hydrocephalus and hypogenitalia. Distal monosomy 10p generally occurs de novo or may be associated with a parental translocation. 900000000000017005 3317492012 20170131 1 900000000000207008 719687007 en 900000000000550004 A very rare syndrome with the association of gingival fibromatosis and craniofacial dysmorphism. It has been described in two siblings. Craniofacial dysmorphism consists of relative macrocephaly, bushy eyebrows with synophrys, hypertelorism, downslanting palpebral fissures, flattened nasal bridge and high arched palate. The patients have normal intellect.The condition seems to be hereditary, transmitted as an autosomal recessive trait. 900000000000017005 3317496010 20170131 1 900000000000207008 719688002 en 900000000000550004 A skeletal dysplasia with characteristics of multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism. It has been described in 4 children from one Omani family. Dysmorphic features consist of macrocephaly with frontal bossing, hypertelorism, flat malar region, low-set ears and short neck. The disease gene has been mapped to the telomeric region of the long arm of chromosome 15. The condition is transmitted in an autosomal recessive manner. 900000000000017005 3317500012 20170131 1 900000000000207008 719689005 en 900000000000550004 A skeletal dysplasia with characteristics of epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness and stubby digits. It has been described in one family in which the mother and three of her four children were affected. The condition is caused by a mutation in the COL2A1 gene (12q13.11-q13.2) and is transmitted in an autosomal dominant manner. 900000000000017005 3317561013 20170131 1 900000000000207008 719715003 en 900000000000550004 This attribute is used to specify the denominator of a relative relational property type, such as a ratio of ratios 900000000000017005 3317561013 20180731 1 900000000000012004 719715003 en 900000000000550004 This attribute is used to specify the denominator of a relative relational property type, such as a ratio of ratios 900000000000017005 3317583012 20170131 1 900000000000207008 719722006 en 900000000000550004 This attribute specifies the realization of a function 900000000000017005 3317583012 20180731 1 900000000000012004 719722006 en 900000000000550004 This attribute specifies the realization of a function 900000000000017005 3317670016 20170131 1 900000000000207008 719753008 en 900000000000550004 A procedure to remove the remaining thyroid tissue after a previous partial thyroid resection. 900000000000017005 3317722015 20170131 1 900000000000207008 719758004 en 900000000000550004 Supports use of dictaphone to capture information given in a consultation. Required when information that is important from the healthcare professional that is usually given in written format cannot be provided in this manner and is required to be recorded by the healthcare professional onto a personal audio recording device. 900000000000017005 3317730019 20170131 1 900000000000207008 719759007 en 900000000000550004 Offspring of one's mother's sibling. 900000000000017005 3317731015 20170131 1 900000000000207008 719760002 en 900000000000550004 Offspring of one's father's sibling. 900000000000017005 3317740016 20170131 1 900000000000207008 719764006 en 900000000000550004 The daughter of one's father who has a different mother. 900000000000017005 3317741017 20170131 1 900000000000207008 719762005 en 900000000000550004 The son of one's father who has a different mother, 900000000000017005 3317746010 20170131 1 900000000000207008 719765007 en 900000000000550004 The daughter of one's mother who has a different father. 900000000000017005 3317750015 20170131 1 900000000000207008 719766008 en 900000000000550004 The son of one's mother who has a different father. 900000000000017005 3317759019 20170131 1 900000000000207008 719769001 en 900000000000550004 The grandmother on one's mother's side. 900000000000017005 3317760012 20170131 1 900000000000207008 719768009 en 900000000000550004 The grandmother on one's father's side. 900000000000017005 3317762016 20170131 1 900000000000207008 719770000 en 900000000000550004 The grandfather on one's father's side. 900000000000017005 3317765019 20170131 1 900000000000207008 719771001 en 900000000000550004 The grandfather on one's mother's side. 900000000000017005 3317834016 20170131 1 900000000000207008 719787003 en 900000000000550004 Drugs for dementia can be initiated by a specialist but continued to be prescribed by a general practitioner/primary care physician under a shared care prescribing arrangement. 900000000000017005 3317985013 20170131 1 900000000000207008 719808002 en 900000000000550004 This syndrome has characteristics of moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait. 900000000000017005 3317988010 20170131 1 900000000000207008 719809005 en 900000000000550004 This syndrome has characteristics of moderate intellectual deficit and precocious puberty. It has been described in three males from two generations of one Australian family. Morbid obesity was noted in the mothers of the patients. Transmission is X-linke 900000000000017005 3317992015 20170131 1 900000000000207008 719810000 en 900000000000550004 This syndrome has characteristics of intellectual deficit, seizures and psoriasis. It has been described in four male cousins. The mode of inheritance is thought to be X-linked recessive. 900000000000017005 3317996017 20170131 1 900000000000207008 719811001 en 900000000000550004 This syndrome has characteristics of intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome. 900000000000017005 3318000018 20170131 1 900000000000207008 719812008 en 900000000000550004 This syndrome has characteristics of severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism. 900000000000017005 3318004010 20170131 1 900000000000207008 719813003 en 900000000000550004 An extremely rare multiple congenital abnormality syndrome that has characteristics of microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum. 900000000000017005 3318007015 20170131 1 900000000000207008 719814009 en 900000000000550004 Describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. The clinical manifestation is mycobacterial infections occurring in males. Diagnosis is made by laboratory analysis. Low levels of IFN-gamma and IL-12 production by the patients' mononuclear cells upon phytohemagglutinin (PHA) are detected in those with an IKBKG mutation. In addition, an impaired IL-12 production by monocytes upon PHA stimulation by activated T cells is shown. Impaired NADPH activity is demonstrated in vitro in macrophages and B-cell lines in those with a CYBB mutation. A mutational analysis is necessary to identify the exact causative genes involved allowing for the implementation of a specific treatment plan. 900000000000017005 3318011014 20170131 1 900000000000207008 719815005 en 900000000000550004 This myopathy is a childhood-onset X-linked myopathy with characteristics of slow progression of muscle weakness and unique histopathological findings. It has been described in about fifteen families The first manifestations appear typically in children around 5-10 years of age and include difficulty climbing stairs and running. Transmission is X-linked recessive; female carriers are asymptomatic or only mildly affected. The Xq28 locus has been associated with the disease. 900000000000017005 3318017013 20170131 1 900000000000207008 719816006 en 900000000000550004 A rare syndromic inherited form of sideroblastic anemia characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non or slowly progressive spinocerebellar ataxia. Caused by mutations in the ABCB7 gene (Xq13.3), encoding a mitochondrial ATP-binding cassette (ABC) transporter protein, which plays a role in heme production and iron homeostasis. A mutation in this gene alters the availability of reduced iron and therefore disrupts heme biosynthesis. The ABCB7 gene is highly expressed in both the bone marrow and the cerebellum, which may explain ataxia. Inherited in an X-linked recessive manner. 900000000000017005 3318018015 20170131 1 900000000000207008 719816006 en 900000000000550004 A rare syndromic inherited form of sideroblastic anaemia characterised by mild to moderate anaemia (with hypochromia and microcytosis) and early-onset, non or slowly progressive spinocerebellar ataxia. Caused by mutations in the ABCB7 gene (Xq13.3), encoding a mitochondrial ATP-binding cassette (ABC) transporter protein, which plays a role in heme production and iron homeostasis. A mutation in this gene alters the availability of reduced iron and therefore disrupts heme biosynthesis. The ABCB7 gene is highly expressed in both the bone marrow and the cerebellum, which may explain ataxia. Inherited in an X-linked recessive manner. 900000000000017005 3318020017 20170131 1 900000000000207008 719817002 en 900000000000550004 This syndrome is a form of spinocerebellar degeneration with onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia and optic atrophy and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait. 900000000000017005 3318024014 20170131 1 900000000000207008 719818007 en 900000000000550004 Spinocerebellar ataxia, X-linked, type 4 has characteristics of ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life. 900000000000017005 3318027019 20170131 1 900000000000207008 719819004 en 900000000000550004 Syndrome complex that has characteristics of the cutaneous features of xeroderma pigmentosum together with the systemic and neurological features of Cockayne syndrome. Less than 30 cases have been described to date. The disease manifests during infancy. Patients present with cutaneous UV-sensitive lesions that generally develop into skin cancer and also develop characteristic Cockayne syndrome manifestations such as microcephaly, hydrocephalus, cachexia, premature ageing, dwarfism, skin atrophy, arteriosclerosis, progressive hearing loss, cognitive deficit, spasticity, ataxia, pigmentary retinopathy and optic atrophy. Affected individuals have mutations in one of three XP genes: ERCC3 (2q21), ERCC2 (19q13.3), or ERCC5 (13q22-q34). Transmission is autosomal recessive. 900000000000017005 3318039010 20170131 1 900000000000207008 719097002 en 900000000000550004 An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family. The syndrome has characteristics of intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971. 900000000000017005 3318043014 20170131 1 900000000000207008 719823007 en 900000000000550004 This syndrome has characteristics of cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence. It has initially been reported in six patients from three generations of one family. Four affected members of another family manifesting a similar constellation of clinical features have recently been reported. An additional feature may be an antimongoloid slant of the palpebral fissures. 900000000000017005 3318047010 20170131 1 900000000000207008 719824001 en 900000000000550004 A very rare and severe congenital multisystem disorder with the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency. Usually diagnosed in the first years of life. The phenotype is variable but the principal diagnostic features are almost always present at onset or evolve over time. Caused by mutations in the EPG5 gene (18q12.3) which encodes an important autophagy regulator, ectopic P-granules autophagy protein 5 (epg5). Formation of autolysosomes is specifically disturbed by an epg5 deficiency. 900000000000017005 3318058018 20170131 1 900000000000207008 719825000 en 900000000000550004 This syndrome has characteristics of intellectual deficit affecting both sexes, macrocephaly, and macroorchidism in the majority of affected males. It has been described in 12 individuals from two generations of one family. Other males from this family did not display intellectual deficit but did present macroorchidism and macrocephaly. Transmission is X-linked and the causative gene has been located to the q12-q21 region of the X chromosome. 900000000000017005 3318061017 20170131 1 900000000000207008 719826004 en 900000000000550004 This syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region. 900000000000017005 3318062012 20170131 1 900000000000207008 719826004 en 900000000000550004 This syndrome is characterized by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behavior, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region. 900000000000017005 3318066010 20170131 1 900000000000207008 719827008 en 900000000000550004 A syndrome with characteristics of immune deficiency and neurological disorders in females and neonatal death in males. The syndrome has been described in only one family with nine affected individuals (five males and four females) spanning two generations. Symptomatic females present slowly progressive proximal muscle weakness, leg hyperreflexia, pes cavus, increased muscle tone in the legs, poor bladder function, static reduced night vision and frequent sinopulmonary infections associated with IgG2 deficiency. Males present with low birth weight and severe hypotonia that leads to death in the neonatal period. The gene locus has been mapped to Xq26-qter. 900000000000017005 3318091010 20170131 1 900000000000207008 719833004 en 900000000000550004 This syndrome has characteristics of facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome. 900000000000017005 3318092015 20170131 1 900000000000207008 719835006 en 900000000000550004 This syndrome has characteristics of wooly hair, palmoplantar keratoderma and dilated cardiomyopathy principally affecting the left ventricle. Only a few cases have been reported, all involving patients from Ecuador, India or Turkey. The wooly hair is present at birth and the palmoplantar keratoderma appears during the first year of life. The cardiac anomaly presents during childhood and is marked by dilation of the left ventricle accompanied by alterations in muscle contractility. The syndrome is transmitted as an autosomal recessive trait and is caused by mutations in the DSP gene (6p24) encoding desmoplakin, a protein involved in cell adhesion. The syndrome is similar to Naxos disease. 900000000000017005 3318096017 20170131 1 900000000000207008 719834005 en 900000000000550004 A very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature. The syndrome has been described in two families to date. The syndrome has been linked to a mutation in the consensus donor splice site of the histone deacetylase 8 HDAC8 gene (Xq13). X-linked recessive transmission and X-linked dominant inheritance with absence of male-to-male transmission have been reported. 900000000000017005 3318097014 20170131 1 900000000000207008 719834005 en 900000000000550004 A very rare X-linked multisystem genetic disease characterised by intellectual disability, truncal obesity, gynaecomastia, hypogonadism, dysmorphic facial features, and short stature. The syndrome has been described in two families to date. The syndrome has been linked to a mutation in the consensus donor splice site of the histone deacetylase 8 HDAC8 gene (Xq13). X-linked recessive transmission and X-linked dominant inheritance with absence of male-to-male transmission have been reported. 900000000000017005 3318102012 20170131 1 900000000000207008 719835006 en 900000000000550004 This syndrome has characteristics of woolly hair, palmoplantar keratoderma and dilated cardiomyopathy principally affecting the left ventricle. Only a few cases have been reported, all involving patients from Ecuador, India or Turkey. The woolly hair is present at birth and the palmoplantar keratoderma appears during the first year of life. The cardiac anomaly presents during childhood and is marked by dilation of the left ventricle accompanied by alterations in muscle contractility. The syndrome is transmitted as an autosomal recessive trait and is caused by mutations in the DSP gene (6p24) encoding desmoplakin, a protein involved in cell adhesion. The syndrome is similar to Naxos disease. 900000000000017005 3318108011 20170131 1 900000000000207008 719836007 en 900000000000550004 A rare form of spinal muscular atrophy with characteristics of the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. Patients have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure. 900000000000017005 3318111012 20170131 1 900000000000207008 719837003 en 900000000000550004 A rare genetic bone disorder with characteristics of chondrodysplasia, intrauterine growth retardation, hydrocephaly and facial dysmorphism in the affected males. The disease is severe and probably lethal in males, the clinical picture in females is less severe. The disease is due to a mutation in the histone deacetylase 6 HDAC6 gene (Xp11.3-q13.1) that causes a nucleotide substitution in the 3' untranslated region (UTR) of the HDAC6 transcript. This mutation lies in the seed sequence of microRNA-433 (hsa-miR-433) and abolishes the post-transcriptional regulation of HDAC6 expression by hsa-miR-433, resulting in the overexpression of the HDAC6 protein. Inheritance is X-linked dominant. 900000000000017005 3318119014 20170131 1 900000000000207008 719839000 en 900000000000550004 This syndrome is characterized by hypokalemic metabolic alkalosis secondary to a tubulopathy, hypomagnesemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. It has been described in two patients, a father and his daughter. The condition shows some similarities to the Gitelman and Bartter syndromes. The mode of transmission appears to be autosomal dominant. 900000000000017005 3318120015 20170131 1 900000000000207008 719839000 en 900000000000550004 This syndrome is characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. It has been described in two patients, a father and his daughter. The condition shows some similarities to the Gitelman and Bartter syndromes. The mode of transmission appears to be autosomal dominant. 900000000000017005 3318125013 20170131 1 900000000000207008 719840003 en 900000000000550004 Syndrome with characteristics of renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants, all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive. 900000000000017005 3318131011 20170131 1 900000000000207008 719842006 en 900000000000550004 A very rare syndrome with characteristics of mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation. It has been reported in two siblings. The family is suggestive of autosomal recessive inheritance. Prognosis is poor. 900000000000017005 3318135019 20170131 1 900000000000207008 719843001 en 900000000000550004 A very rare malformation syndrome with characteristics of hypoplasia of ulna associated with hypoplastic to absent fourth and/or fifth digits, hypoplasia of fibula, short stature and facial dysmorphism. 900000000000017005 3318139013 20170131 1 900000000000207008 719844007 en 900000000000550004 This syndrome is characterised by congenital intestinal atresia, umbilical cord ulceration and severe intrauterine haemorrhage. Around 15 cases have been described so far. The aetiology is unknown. 900000000000017005 3318140010 20170131 1 900000000000207008 719844007 en 900000000000550004 This syndrome is characterized by congenital intestinal atresia, umbilical cord ulceration and severe intrauterine hemorrhage. Around 15 cases have been described so far. The etiology is unknown. 900000000000017005 3318144018 20170131 1 900000000000207008 719845008 en 900000000000550004 A very rare syndrome with characteristics of blepharophimosis, arachnodactyly, joint contractures and dysmorphic features. Ten cases from seven families have been reported in the literature. The dysmorphic features include narrow nose with hypoplastic alae nasi, hypoplastic maxilla, everted lower lip, blepharophimosis, large ears and high-arched or cleft palate. The affected patients can have learning disabilities. The condition is transmitted as an autosomal recessive trait. 900000000000017005 3318203010 20170131 1 900000000000207008 719861005 en 900000000000550004 A process of working with others such as teachers, parents and care staff with the purpose of modifying their perceptions, attitudes, knowledge or understanding in order to enhance occupational performance within the patient’s social environment. 900000000000017005 3318203010 20210131 0 900000000000207008 719861005 en 900000000000550004 A process of working with others such as teachers, parents and care staff with the purpose of modifying their perceptions, attitudes, knowledge or understanding in order to enhance occupational performance within the patient’s social environment. 900000000000017005 3318345014 20170131 1 900000000000207008 719892007 en 900000000000550004 Bubbling and swinging are both dependant on an intact underwater seal and so can only be picked up if the drain tube extends below the water level in the bottle. Bubbling and swinging should be assessed with the patient deep breathing and if possible coughing. No bubbling or swinging may indicate that the chest drain is blocked. 900000000000017005 3318416013 20170131 1 900000000000207008 699256006 en 900000000000550004 Timothy syndrome is a multi-system disorder with characteristics of cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. Timothy syndrome is caused by mutations in the CACNA1C gene. It is inherited as autosomal dominant trait. 900000000000017005 3318419018 20170131 1 900000000000207008 719907006 en 900000000000550004 Timothy syndrome is a multi-system disorder with characteristics of cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. Timothy syndrome is caused by mutations in the CACNA1C gene. It is inherited as autosomal dominant trait. Researchers have identified two forms of Timothy syndrome. Type 1, which is also known as the classic type, includes all of the characteristic features described above. Type 2, or the atypical type, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death. Unlike the classic type, the atypical type does not appear to cause webbing of the fingers or toes. 900000000000017005 3318426018 20170131 1 900000000000207008 719909009 en 900000000000550004 Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The most frequently reported distal duplications involve the Xq28 segment and yield a phenotype including distinctive facial features, major axial hypotonia, severe developmental delay, severe feeding difficulties, abnormal genitalia and susceptibility to infections. Xq duplications may be caused either by an intrachromosomal duplication or by an unbalanced X/Y or X/autosome translocation. 900000000000017005 3318432011 20170131 1 900000000000207008 719910004 en 900000000000550004 An autosomal dominant ectodermal dysplasia syndrome, with characteristics of uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia and associated with early-onset cataract, retinal pigmentary dystrophy and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients. 900000000000017005 3318435013 20170131 1 900000000000207008 719911000 en 900000000000550004 The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked. 900000000000017005 3318547017 20170131 1 900000000000207008 719944006 en 900000000000550004 This syndrome has characteristics of growth retardation, alopecia, abnormally long eyelashes and retinitis pigmentosa. Moderate intellectual deficit was also present in the majority of cases. To date, 11 cases have been reported. Transmission is thought to be autosomal recessive. 900000000000017005 3318550019 20170131 1 900000000000207008 719945007 en 900000000000550004 This syndrome has characteristics of congenital absence of the teeth and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families. 900000000000017005 3318553017 20170131 1 900000000000207008 719946008 en 900000000000550004 A rare syndrome with characteristics of camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. Dysmorphic features include facial asymmetry, hypertelorism, broad nasal bridge, long philtrum and a small mouth. Winging scapulae, scoliosis, syndactyly and clinodactyly are commonly observed. The affected patients usually have normal mental development. The molecular basis of the syndrome has not yet been elucidated. 900000000000017005 3318557016 20170131 1 900000000000207008 719949001 en 900000000000550004 This syndrome has characteristics of neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait. 900000000000017005 3318558014 20170131 1 900000000000207008 719947004 en 900000000000550004 A very rare congenital genetic neurological disorder with characteristics of agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders and variable craniofacial and skeletal abnormalities. Most reported families have multiple cases of Temtamy syndrome and almost all affected individuals are from consanguineous unions. The main clinical findings are dysmorphic facies, hypotonia, moderate to severe intellectual disability, intractable seizures and autistic features such as absent language or stereotypy. Motor and cognitive delay usually manifests in early childhood. The pathogenesis of Temtamy syndrome is not known. Various mutations (homozygous, missense, compound heterozygous) in the C12orf57 gene (12p13.31) have been reported in affected patients. Follows an autosomal recessive pattern of inheritance. 900000000000017005 3318563013 20170131 1 900000000000207008 719950001 en 900000000000550004 A hand-foot malformation with characteristics of triphalangeal thumbs and pre and postaxial polydactyly, isolated syndactyly or complex polysyndactyly. It has been described in some large pedigrees. Clinical presentation is variable within families, ranging from mild to severe. Malformations of the feet are usually less severe than those of the hands. Caused by duplication encompassing the limb-specific regulatory element (ZRS) of sonic hedgehog SHH, which lies in intron 5 of the limb region 1 homolog gene, LMBR1 (7q36). This syndrome is transmitted in an autosomal dominant manner with complete penetrance and variable expression. 900000000000017005 3318563013 20220630 0 900000000000207008 719950001 en 900000000000550004 A hand-foot malformation with characteristics of triphalangeal thumbs and pre and postaxial polydactyly, isolated syndactyly or complex polysyndactyly. It has been described in some large pedigrees. Clinical presentation is variable within families, ranging from mild to severe. Malformations of the feet are usually less severe than those of the hands. Caused by duplication encompassing the limb-specific regulatory element (ZRS) of sonic hedgehog SHH, which lies in intron 5 of the limb region 1 homolog gene, LMBR1 (7q36). This syndrome is transmitted in an autosomal dominant manner with complete penetrance and variable expression. 900000000000017005 3318567014 20170131 1 900000000000207008 719951002 en 900000000000550004 This syndrome has characteristics of triphalangeal thumbs and brachydactyly of the hands. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant. 900000000000017005 3318658017 20170131 1 900000000000207008 719972004 en 900000000000550004 A rare congenital disorder in which congenital central hypoventilation syndrome occurs concurrently with Hirschsprung disease. Intestinal aganglionosis is more extensive, and the gender ratio is 1:1, unlike in classical Hirschsprung disease. Mutations in the PHOX2B gene are found in a significant number of patients with Haddad syndrome. 900000000000017005 3318662011 20170131 1 900000000000207008 719973009 en 900000000000550004 A rare syndrome with characteristics of palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis. The syndrome presents with severe and extensive skin manifestations. Severe, early-onset progressive periodontitis that affects both the deciduous and permanent dentitions and presents with gingival inflammation and alveolar bone destruction is a hallmark of the disease. Onychogryposis, arachnodactyly, acroosteolysis and pes planus are additional features that help to distinguish from other forms of palmoplantar hyperkeratosis. The syndrome is caused by germline mutations in the lysosomal protease cathepsin C (CTSC) gene mapped to chromosome 11q14.1-q14.3. It is transmitted as an autosomal recessive trait. 900000000000017005 3318666014 20170131 1 900000000000207008 719974003 en 900000000000550004 A form of rare hereditary hemochromatosis, a group of diseases characterized by excessive tissue iron deposition of genetic origin. Type 3 hemochromatosis concerns middle aged-adults but also adolescents and young adults. It presents with liver disease, hypogonadism, arthritis, diabetes and skin pigmentation. The disease is caused by mutations of the transferrin receptor 2 gene (TFR2) on chromosome 7. Transmission is autosomal recessive. 900000000000017005 3318667017 20170131 1 900000000000207008 719974003 en 900000000000550004 A form of rare hereditary haemochromatosis, a group of diseases characterised by excessive tissue iron deposition of genetic origin. Type 3 haemochromatosis concerns middle aged-adults but also adolescents and young adults. It presents with liver disease, hypogonadism, arthritis, diabetes and skin pigmentation. The disease is caused by mutations of the transferrin receptor 2 gene (TFR2) on chromosome 7. Transmission is autosomal recessive. 900000000000017005 3318678013 20170131 1 900000000000207008 719975002 en 900000000000550004 A form of rare hereditary hemochromatosis, a group of diseases characterized by excessive tissue iron deposition of genetic origin. Type 4 is less rare than the other rare forms of hereditary hemochromatosis. The disease is phenotypically heterogeneous with two sub-types. Ferroportin disease form A is the usual form and is generally asymptomatic with no tissue damage and further complications. Ferroportin disease form B is rarer and resembles hemochromatosis type 1, but can affect children. Ferroportin disease is due to mutations in the SLC40A1 gene located on chromosome 2, which encodes for ferroportin (FPN), an iron exporter negatively regulated by the hepcidin hormone. Transmission is autosomal dominant. 900000000000017005 3318679017 20170131 1 900000000000207008 719975002 en 900000000000550004 A form of rare hereditary haemochromatosis, a group of diseases characterised by excessive tissue iron deposition of genetic origin. Type 4 is less rare than the other rare forms of hereditary haemochromatosis. The disease is phenotypically heterogeneous with two sub-types. Ferroportin disease form A is the usual form and is generally asymptomatic with no tissue damage and further complications. Ferroportin disease form B is rarer and resembles haemochromatosis type 1, but can affect children. Ferroportin disease is due to mutations in the SLC40A1 gene located on chromosome 2, which encodes for ferroportin (FPN), an iron exporter negatively regulated by the hepcidin hormone. Transmission is autosomal dominant. 900000000000017005 3318684011 20170131 1 900000000000207008 719976001 en 900000000000550004 This syndrome is characterized by sleep apnea associated with glaucoma. It has been described in five members of a family (the mother and four of her children). 900000000000017005 3318685012 20170131 1 900000000000207008 719976001 en 900000000000550004 This syndrome is characterised by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children). 900000000000017005 3318696016 20170131 1 900000000000207008 719979008 en 900000000000550004 A form of Charcot-Marie-Tooth disease type 1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood). Usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis. 900000000000017005 3318700012 20170131 1 900000000000207008 719980006 en 900000000000550004 A form of Charcot-Marie-Tooth disease type 1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. The disease has characteristics of progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. Caused by mutations in the NEFL gene (8p21.2). 900000000000017005 3318704015 20170131 1 900000000000207008 719981005 en 900000000000550004 An axonal Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry. Onset occurs in adulthood (between 26 and 42 years of age) with symmetric moderate to severe weakness of the distal muscles, predominantly affecting the lower extremities. Marked sensory deficits were also reported. Transmitted in an autosomal recessive manner and the disease-causing gene was mapped to chromosome 19q13.3 (MED25). 900000000000017005 3318718010 20170131 1 900000000000207008 719985001 en 900000000000550004 A limb girdle muscular dystrophy caused by myotilin deficiency with characteristics of limb-girdle weakness in combination with dysarthria. 900000000000017005 3318724016 20170131 1 900000000000207008 719986000 en 900000000000550004 A limb girdle muscular dystrophy caused by caveolin-3 deficiency with characteristics of weakness in limb-girdle muscles, calf muscle hypertrophy and lack of respiratory and cardiac involvement. 900000000000017005 3318727011 20170131 1 900000000000207008 719987009 en 900000000000550004 A limb girdle muscular dystrophy with characteristics of muscular weakness, primarily affecting the pelvic and shoulder girdles with no bulbar weakness or dysarthria. 900000000000017005 3318730016 20170131 1 900000000000207008 719988004 en 900000000000550004 A limb-girdle muscular dystrophy with characteristics of skeletal and cardiac myopathy with cardiac conduction defects and muscle cytoplasmic inclusions. 900000000000017005 3318733019 20170131 1 900000000000207008 719989007 en 900000000000550004 A form of limb girdle muscular dystrophy with characteristics of muscle weakness affecting the pelvic girdle and especially the iliopsoas muscle. Respiratory impairment may be observed in advanced stages. 900000000000017005 3318736010 20170131 1 900000000000207008 719990003 en 900000000000550004 A mild form of limb girdle muscular dystrophy that has characteristics of limb-girdle weakness, marked proximal amyotrophy and abolished myotatic reflexes, associated with progressive fingers and toes flexion limitation. 900000000000017005 3318739015 20170131 1 900000000000207008 719991004 en 900000000000550004 Procedural learning is the acquisition of motor skills, habits and types of cognitive skills through repeated performance and practice. 900000000000017005 3318846019 20170131 1 900000000000207008 719838008 en 900000000000550004 This syndrome has characteristics of axonal sensory and autonomic neuropathy with hearing loss. It has been described in a large five-generation Chinese family. Onset occurred in the second decade of life with mild to severe hearing impairment due to degeneration of the auditory nerve, followed by late-onset of a diffuse and progressive peripheral sensory neuropathy. The causative gene was mapped to the AUNX1 locus on chromosome Xq23-27.3. Transmission was X-linked recessive. 900000000000017005 3318850014 20170131 1 900000000000207008 720009004 en 900000000000550004 This syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously. 900000000000017005 3318851013 20170131 1 900000000000207008 720009004 en 900000000000550004 This syndrome is characterized by the association of intractable diarrhea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhea of infancy described previously. 900000000000017005 3318855016 20170131 1 900000000000207008 720010009 en 900000000000550004 Syndrome with characteristics of congenital microphthalmia and blindness, progressive spasticity, microcephaly, seizures and profound intellectual deficit. It has been reported in three children from three unrelated families. While imaging at birth is normal, follow-up studies show progressive atrophy involving the cerebral white matter and cortex, cerebellum, brainstem, and corpus callosum. The white matter changes extend into the subcortical region, leaving only small islands of remaining cortical tissue. 900000000000017005 3318941013 20170131 1 900000000000207008 78104003 en 900000000000550004 Backward flow of refluxed gastric content into the mouth or hypopharynx. 900000000000017005 3320415012 20170131 1 900000000000207008 720749004 en 900000000000550004 A degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive postlingual sensorineural hearing loss. The ocular manifestations include diffuse bilateral corneal edema occurring with severe corneal clouding, blurred vision, visual loss and nystagmus. Caused by mutations in the SLC4A11 gene located at the CHED2 locus on chromosome 20p13p12. 900000000000017005 3320617012 20170131 1 900000000000207008 719452004 en 900000000000550004 A rare developmental defect with characteristics of an anomalous connection of bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus. 900000000000017005 3320620016 20170131 1 900000000000207008 720394008 en 900000000000550004 A rare developmental defect with characteristics of an anomalous connection of trachea with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus. 900000000000017005 3320653014 20170131 1 900000000000207008 720407008 en 900000000000550004 The patient's mother is a victim of domestic violence. 900000000000017005 3320658017 20170131 1 900000000000207008 720408003 en 900000000000550004 A very rare congenital malformation syndrome with the association of facial and skeletal anomalies, severe intellectual deficit and occasional genitourinary anomalies. The cranio-facial malformations are numerous and variable and include brachycephaly or microbrachycephaly. Other skeletal malformations are also present, with syndactyly of fingers, hypoplastic toes, anomalies of feet structure and fibular hypoplasia. Short stature may be observed. Eye anomalies include bilateral ptosis, cataract and congenital glaucoma. In some male patients, hypospadias and bifid scrotum are reported. Patients suffer from potentially severe intellectual deficit and present with anomalies of the cortical gyration. 900000000000017005 3320666014 20170131 1 900000000000207008 720410001 en 900000000000550004 A very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure) mixed hearing loss, facial dysmorphism and limb extremity anomalies. Only 4 cases have been reported in the literature from 3 inbred sibships. The affected patients have no intellectual deficit. Transmitted as an autosomal recessive trait. 900000000000017005 3320667017 20170131 1 900000000000207008 720410001 en 900000000000550004 A very rare disorder associating pseudopapilloedema (optic disc swelling not secondary to increased intracranial pressure) mixed hearing loss, facial dysmorphism and limb extremity anomalies. Only 4 cases have been reported in the literature from 3 inbred sibships. The affected patients have no intellectual deficit. Transmitted as an autosomal recessive trait. 900000000000017005 3320674010 20170131 1 900000000000207008 720412009 en 900000000000550004 Syndrome with characteristics of a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. It has been described in 22 patients from a six-generation Turkish family. It is transmitted as an autosomal dominant trait and the causative gene is located at 7q36. 900000000000017005 3320678013 20170131 1 900000000000207008 720413004 en 900000000000550004 A very rare association of a Poland anomaly with characteristics of unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles. 900000000000017005 3320683017 20170131 1 900000000000207008 720414005 en 900000000000550004 A very rare multiple congenital anomalies syndrome with characteristics of limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. 900000000000017005 3320687016 20170131 1 900000000000207008 720415006 en 900000000000550004 A syndrome of multiple congenital anomalies with characteristics of radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula) and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis and Duane anomaly).The phenotype overlaps with related disorders including Okihiro syndrome and Holt-Oram syndrome. Transmission is autosomal dominant. 900000000000017005 3320690010 20170131 1 900000000000207008 720416007 en 900000000000550004 A skeletal dysplasia with clinical characteristics of short stature of variable degrees with short limbs, brachydactyly and narrow thorax. Affected patients have normal intelligence. Radiographically, cone-shaped epiphyses are observed in the hands, the proximal part of the femur and to a variable degree, at the shoulders, knees, and ankles. Homozygous mutations in the Indian hedgehog homolog gene (IHH; 2q33-q35), outside the region where brachydactyly type A-1 mutations are clustered, have been identified in affected patients. The condition is transmitted as an autosomal recessive trait. 900000000000017005 3320695017 20170131 1 900000000000207008 720417003 en 900000000000550004 An extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism, excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date. 900000000000017005 3320696016 20170131 1 900000000000207008 720417003 en 900000000000550004 An extremely rare lethal autosomal recessive disorder characterised by massive birth weight, swollen globular body, generalised oedema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism, excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date. 900000000000017005 3320700012 20170131 1 900000000000207008 720418008 en 900000000000550004 A very rare form of acrofacial dysostosis, reported in two sisters to date, with characteristics of short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988. 900000000000017005 3320704015 20170131 1 900000000000207008 720419000 en 900000000000550004 A very rare type of acrofacialdysostosis with characteristics of mild intrauterine growth retardation, postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males. 900000000000017005 3320725015 20170131 1 900000000000207008 720427009 en 900000000000550004 Reported as a new type of acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome such as microcephaly, blepharophimosis, microtia, a peculiar beaked nose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. 900000000000017005 3320730016 20170131 1 900000000000207008 720429007 en 900000000000550004 A very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia. The syndrome has characteristics of normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals and unilateral cleft lip. 900000000000017005 3320733019 20170131 1 900000000000207008 720430002 en 900000000000550004 A multiple malformation syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the central nervous system, urogenital tract, heart, and lungs. The mandibulofacial defect causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth. 900000000000017005 3320799018 20170131 1 900000000000207008 720448006 en 900000000000550004 Typical atrial flutter is an organised atrial tachycardia. It originates in a circuit around the tricuspid annulus limited by anatomical barriers such as the superior and inferior cava veins, the coronary sinus and crista terminalis. The wave front may rotate around this circuit counterclockwise or clockwise. 900000000000017005 3320800019 20170131 1 900000000000207008 720448006 en 900000000000550004 Typical atrial flutter is an organized atrial tachycardia. It originates in a circuit around the tricuspid annulus limited by anatomical barriers such as the superior and inferior cava veins, the coronary sinus and crista terminalis. The wave front may rotate around this circuit counterclockwise or clockwise. 900000000000017005 3320824010 20170131 1 900000000000207008 720456009 en 900000000000550004 A multiple congenital anomalies/dysmorphic syndrome with characteristics of a progressively coarse acromegaloid-like facial appearance, thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. The syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome. 900000000000017005 3320824010 20220630 0 900000000000207008 720456009 en 900000000000550004 A multiple congenital anomalies/dysmorphic syndrome with characteristics of a progressively coarse acromegaloid-like facial appearance, thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. The syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome. 900000000000017005 3320828013 20170131 1 900000000000207008 720457000 en 900000000000550004 A skeletal dysplasia with characteristics of fusion of the carpal and tarsal bones and complex anomalies of the fingers and toes. It has been described in less than 30 patients from three unrelated families. Other manifestations include prominence of the sternum with variable pectus excavatum, lumbosacral spina bifida occulta, minor craniofacial anomalies and mild intellectual deficit. This syndrome is transmitted as an autosomal dominant trait with full penetrance. The causative gene has been mapped to chromosome region 2q36. 900000000000017005 3320831014 20170131 1 900000000000207008 720458005 en 900000000000550004 Acrorenal syndrome comprises a wide spectrum of congenital malformation disorders with characteristics of the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (for example unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract, abdominal well defects, intestinal atresia and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected. 900000000000017005 3320909019 20170131 1 900000000000207008 720459002 en 900000000000550004 Adrenocorticotropic hormone independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome with characteristics of nodular enlargement of both adrenal glands that produce excess cortisol. The disease presents a bimodal age distribution with a rare subset presenting in the first years of life, particularly associated to McCune-Albright syndrome. Most patients present in their fifth or sixth decade. The adrenal glands can be massively enlarged bilaterally with the presence of numerous macronodules; however diffuse adrenal enlargement without nodules has been described. AIMAH is most often reported as sporadic but there are increasing reports of familial cases with autosomal dominant transmission. 900000000000017005 3320912016 20170131 1 900000000000207008 720460007 en 900000000000550004 The acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber and heavy pigment deposition in the anterior chamber angle of the eye. Patients typically present with acute and usually severe photophobia, blurred vision, red eye and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. 900000000000017005 3320915019 20170131 1 900000000000207008 720461006 en 900000000000550004 A very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, with clinical characteristics of transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia. 900000000000017005 3320916018 20170131 1 900000000000207008 720461006 en 900000000000550004 A very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, with clinical characteristics of transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinaemia, and lactic acidaemia. 900000000000017005 3320921015 20170131 1 900000000000207008 720463009 en 900000000000550004 A type of arthrogryposis with characteristics of congenital cleft palate, microcephaly, craniostenosis and arthrogryposis. Additional features include facial dysmorphism. Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983. 900000000000017005 3320922010 20170131 1 900000000000207008 720463009 en 900000000000550004 A type of arthrogryposis with characteristics of congenital cleft palate, microcephaly, craniostenosis and arthrogryposis. Additional features include facial dysmorphism. Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalised muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleroedema are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983. 900000000000017005 3320926013 20170131 1 900000000000207008 720464003 en 900000000000550004 The ADULT (acro-dermato-ungual-lacrimal-tooth) syndrome has characteristics of ectrodactyly, excessive freckling, onychodysplasia, obstruction of lacrimal ducts and hypodontia and/or early loss of permanent teeth. Variable clinical expression is observed. Fourteen cases have been described so far. Transmission is autosomal dominant. 900000000000017005 3320932015 20170131 1 900000000000207008 720465002 en 900000000000550004 A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes. 900000000000017005 3320933013 20170131 1 900000000000207008 720465002 en 900000000000550004 A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anaemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anaemia with liver iron overload and type 2 diabetes. 900000000000017005 3320938016 20170131 1 900000000000207008 720466001 en 900000000000550004 A rare neurodegenerative disease usually presenting before the age of 30 with characteristics of dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline. Prevalence is unknown. Only 14 cases have been reported to date. Caused by mutations in the phospholipase A2, group VI (PLA2G6) gene located on chromosome 22q13.1. Inherited in an autosomal recessive manner. 900000000000017005 3320941013 20170131 1 900000000000207008 720467005 en 900000000000550004 A syndrome described in three members of a family (a boy, his father and his paternal grandmother) with the association of aniridia and patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975. 900000000000017005 3320944017 20170131 1 900000000000207008 720468000 en 900000000000550004 An extremely rare autosomal dominant developmental defect of the eye described in several members of one family with characteristics of the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974. 900000000000017005 3320990013 20170131 1 900000000000012004 719367001 en 900000000000550004 Instituto Nacional de Servicios Sociales para Jubilados y Pensionados (INSSJP) de Argentina 900000000000017005 3320990013 20170731 0 900000000000012004 719367001 en 900000000000550004 Instituto Nacional de Servicios Sociales para Jubilados y Pensionados (INSSJP) de Argentina 900000000000017005 3320994016 20170131 1 900000000000012004 720486002 en 900000000000550004 Mednxt Medical Eservices pvt ltd 900000000000017005 3320994016 20170731 0 900000000000012004 720486002 en 900000000000550004 Mednxt Medical Eservices pvt ltd 900000000000017005 3321011017 20170131 1 900000000000207008 720492008 en 900000000000550004 The association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms. It has been described in at least eight patients, in four sibships spanning two generations of a Greek-Cypriot family. Six other members of the family presented with palmoplantar hyperkeratosis alone. This syndrome is likely to be transmitted as an autosomal dominant trait. It is distinct from diffuse idiopathic skeletal hyperostosis (DISH), which is not a rare disease. 900000000000017005 3321014013 20170131 1 900000000000207008 720493003 en 900000000000550004 A rare variant of cutaneous lichen planus with characteristics of both annular and atrophic lichen planus features in the same lesion. Fewer than ten cases have been reported in the literature. Small violaceous papules develop on the trunk and extremities with an atrophic centre and a raised hyperpigmented border. Patients are generally middle-aged and have no past history of cutaneous lesions. Histopathologically, the peripheral border has the typical features of lichen planus, while the centre of the lesion shows loss of rete ridges. There is loss of elastic fibres within the papillary dermis, both centrally and peripherally. 900000000000017005 3321018011 20170131 1 900000000000207008 720494009 en 900000000000550004 A multiple congenital anomaly disorder with characteristics of anonychia congenita totalis and microcephaly, with normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and spaced teeth. Inheritance is likely to be autosomal recessive. 900000000000017005 3321022018 20170131 1 900000000000207008 720495005 en 900000000000550004 A multiple congenital anomalies syndrome reported in the offsprings of a consanguineous couple with characteristics of multiple congenital skeletal, muscular, ocular and cardiac abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992. 900000000000017005 3321026015 20170131 1 900000000000207008 720496006 en 900000000000550004 A very rare multiple congenital anomaly syndrome with characteristics of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested. 900000000000017005 3321030017 20170131 1 900000000000207008 720497002 en 900000000000550004 An increase in anti-human leukocyte antigen (anti-HLA) mostly seen in chronic renal failure patients that have undergone hemodialysis and polytransfusion. Other factors leading to anti-HLA hyperimmunization are renal transplantation and pregnancy. Anti-HLA hyperimmunization is a major factor in acute graft rejection. It can be limited by administrating erythropoietin for the treatment of chronic renal failure related anemia, which reduces the number of transfusions required. 900000000000017005 3321031018 20170131 1 900000000000207008 720497002 en 900000000000550004 An increase in anti-human leukocyte antigen (anti-HLA) mostly seen in chronic renal failure patients that have undergone haemodialysis and polytransfusion. Other factors leading to anti-HLA hyperimmunisation are renal transplantation and pregnancy. Anti-HLA hyperimmunisation is a major factor in acute graft rejection. It can be limited by administrating erythropoietin for the treatment of chronic renal failure related anaemia, which reduces the number of transfusions required. 900000000000017005 3321034014 20170131 1 900000000000207008 720498007 en 900000000000550004 An extremely rare malformation syndrome with characteristics of the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability. 900000000000017005 3321038012 20170131 1 900000000000207008 720499004 en 900000000000550004 This syndrome has characteristics of the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant. 900000000000017005 3321042010 20170131 1 900000000000207008 720500008 en 900000000000550004 An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985. 900000000000017005 3321043017 20170131 1 900000000000207008 720500008 en 900000000000550004 An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterised by aplasia cutis congenita of the vertex and generalised oedema (as well as hypoproteinaemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985. 900000000000017005 3321047016 20170131 1 900000000000207008 720501007 en 900000000000550004 A multiple congenital developmental anomalies syndrome with characteristics of arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophthalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability. 900000000000017005 3321052014 20170131 1 900000000000207008 720502000 en 900000000000550004 This syndrome has characteristics of moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes and hypoplastic external genitalia. It has been described in three patients. 900000000000017005 3321069011 20170131 1 900000000000207008 720506002 en 900000000000550004 Syndrome with characteristics of moderate to profound hearing loss in both ears and severe nearsightedness (high myopia). The hearing loss may be described as sensorineural or it may be caused by auditory neuropathy. The hearing loss is either present at birth or begins in infancy, before the child learns to speak. This syndrome is caused by mutations in the SLITRK6 gene. The protein produced from this gene is found primarily in the inner ear and the eye. SLITRK6 gene mutations result in an abnormally short SLITRK6 protein that is not anchored properly to the cell membrane meaning the protein is unable to function normally. Impaired SLITRK6 protein function leads to abnormal nerve development in the inner ear and improperly controlled eyeball growth. 900000000000017005 3321074015 20170131 1 900000000000207008 720507006 en 900000000000550004 Syndrome with characteristics of sick sinus syndrome and intestinal pseudo-obstruction. The heart and digestive issues develop at the same time, usually by age 20. The syndrome is caused by mutations in the SGO1 gene. This gene provides instructions for making part of a protein complex cohesin. This protein complex helps control the placement of chromosomes during cell division. Research suggests that SGO1 gene mutations may result in a cohesin complex that is less able to hold sister chromatids together, resulting in decreased chromosomal stability during cell division. This instability is thought to cause senescence of cells in the intestinal muscle and in the sinoatrial node, resulting in problems maintaining proper rhythmic movements of the heart and intestines. 900000000000017005 3321083013 20170131 1 900000000000207008 720511000 en 900000000000550004 A malformation disorder with characteristics of complete or incomplete absence of nose, choanal atresia, microphthalmia, anophthalmia and cleft or high palate. 900000000000017005 3321087014 20170131 1 900000000000207008 720512007 en 900000000000550004 A rare association syndrome, reported in several members of two families to date with characteristics of arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved, in association with cystic medial necrosis and multiple lentigines. 900000000000017005 3321091016 20170131 1 900000000000207008 720513002 en 900000000000550004 A multisystem disorder with characteristics of neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity. The phenotype is variable, even within the same family and cases may go undiagnosed as not all the patients present with the three cardinal features. Mutations in the VPS33B gene (15q26.1) have been found in 75% of ARC families, as well as mutations in the VIPAR gene (C14ORF133), encoding a protein that complexes with VPS33B. Most patients die within the first year of life despite supportive care for metabolic acidosis and cholestasis and those surviving longer show cirrhosis and severe developmental delay. 900000000000017005 3321095013 20170131 1 900000000000207008 720514008 en 900000000000550004 An extremely rare type of arthrogryposis multiplex congenita with the combination of multiple joint contractures with movement limitation and microstomia with a whistling appearance of the mouth that may cause feeding, swallowing and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction, occasionally Pierre-Robin sequence and lethality generally occurring during the first months of life. 900000000000017005 3321099019 20170131 1 900000000000207008 720515009 en 900000000000550004 This syndrome has characteristics of an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed. 900000000000017005 3321107013 20170131 1 900000000000207008 720517001 en 900000000000550004 This syndrome has characteristics of progressive ataxia beginning during childhood, deafness and intellectual deficit. It has been described in two families. The clinical picture is similar to that seen in Richards-Rundle syndrome. 900000000000017005 3321112014 20170131 1 900000000000207008 720518006 en 900000000000550004 Syndrome with characteristics of deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive. 900000000000017005 3321116012 20170131 1 900000000000207008 720519003 en 900000000000550004 This syndrome has characteristics of sensorineural deafness, diabetes mellitus, progressive neurological deterioration with photomyoclonic epilepsy, and progressive nephropathy. It has been described in two brothers. Premature atherosclerosis of renal, coronary, and cerebral arteries and the aorta was also observed. 900000000000017005 3321120011 20170131 1 900000000000207008 720520009 en 900000000000550004 A very rare and atypical form of Chédiak-Higashi syndrome, a genetic disorder with characteristics of partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. Missense mutations in the LYST lysosomal gene (1q42.1-q42.2) appear to cause this form of Chédiak-Higashi syndrome. Inherited in an autosomal recessive manner. 900000000000017005 3321123013 20170131 1 900000000000207008 720521008 en 900000000000550004 This syndrome has characteristics of congenital thrombocytopenia associated with the presence of large platelets. To date less than 10 cases are reported. The syndrome is caused by mutations in the integrin, beta 3 ITGB3, tubulin, beta-1TUBB1 and actinin, alpha1 ACTN1 genes. These mutations lead to abnormal proplatelets and thrombocytopenia. Transmission is autosomal dominant. 900000000000017005 3321127014 20170131 1 900000000000207008 720522001 en 900000000000550004 A mild form of limb-girdle muscular dystrophy with characteristics of muscle weakness in the four limbs, mild scapular winging, severe atrophy of the quadriceps and anterior tibialis muscles, calf hypertrophy and lack of respiratory and cardiac involvement. 900000000000017005 3321131015 20170131 1 900000000000207008 720523006 en 900000000000550004 Limb-girdle muscular dystrophy type 2K has characteristics of onset of muscle wasting during childhood, associated with intellectual deficit. Moderate muscular hypertrophy and microcephaly are also present. So far, the syndrome has been described in ten boys, the majority of whom came from consanguineous Turkish families. The disease is caused by mutations in the POMT1 gene (chromosome 9) encoding O-mannosyltransferase 1, an enzyme involved in protein glycosylation. 900000000000017005 3321260016 20170131 1 900000000000207008 720565000 en 900000000000550004 Syndrome with characteristics of intrauterine growth retardation, failure to thrive, facial dysmorphism, flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported. 900000000000017005 3321263019 20170131 1 900000000000207008 720566004 en 900000000000550004 A form of generalized enchondromatosis with involvement of the spine (so called spondyloenchondromatosis). Spondyloenchondromatosis is a very rare skeletal dysplasia characterized by severe platyspondyly, and mild involvement of hands and feet. It is though to be inherited as an autosomal recessive condition. Dominant pattern of inheritance has been recently suggested. 900000000000017005 3321264013 20170131 1 900000000000207008 720566004 en 900000000000550004 A form of generalised enchondromatosis with involvement of the spine (so called spondyloenchondromatosis). Spondyloenchondromatosis is a very rare skeletal dysplasia characterised by severe platyspondyly, and mild involvement of hands and feet. It is though to be inherited as an autosomal recessive condition. Dominant pattern of inheritance has been recently suggested. 900000000000017005 3321267018 20170131 1 900000000000207008 720567008 en 900000000000550004 Syndrome with characteristics of variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies, cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome, however unlike Athabaskan brain dysfunction syndrome it does not manifest central hypoventilation. 900000000000017005 3321273017 20170131 1 900000000000207008 720568003 en 900000000000550004 A rare genetic brachydactyly syndrome with the association of brachydactyly type E and hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and if untreated, most patients will have had a stroke by the age of 50. 900000000000017005 3321277016 20170131 1 900000000000207008 720569006 en 900000000000550004 A congenital malformation with characteristics of shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and sometimes of the little finger. Only a few cases have been reported in the literature. Affected individuals have a triangular shaped middle phalanx of the index fingers and in severely affected cases the index finger is curved radially. Can be caused by mutations in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11. 900000000000017005 3321280015 20170131 1 900000000000207008 720570007 en 900000000000550004 A very rare congenital malformation of the digits with the absence of the middle phalanges (usually of digits two to five), nail dysplasia and duplicated terminal phalanx of the thumb. Has been described in patients from two unrelated families. 900000000000017005 3321284012 20170131 1 900000000000207008 720571006 en 900000000000550004 A form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features. It has been reported in one family. 900000000000017005 3321287017 20170131 1 900000000000207008 720572004 en 900000000000550004 A recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the second and fifth fingers and absence of middle phalanges of the second to fifth toes) and a syndactyly of the second and third toes. Metacarpals and metatarsals anomalies are common. This syndrome has been described in two families. It is caused by HOXD13 mutations in 2q31-q32. Inherited as an autosomal dominant trait. 900000000000017005 3321292015 20170131 1 900000000000207008 720573009 en 900000000000550004 A very rare malformation syndrome with characteristics of short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants. 900000000000017005 3321295018 20170131 1 900000000000207008 720574003 en 900000000000550004 A developmental anomaly with characteristics of brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). This anomaly has been described in a mother and her son and there have been no further descriptions in the literature since 1986. 900000000000017005 3321299012 20170131 1 900000000000207008 720575002 en 900000000000550004 A rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, with characteristics of VATER-like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect. 900000000000017005 3321303019 20170131 1 900000000000207008 720576001 en 900000000000550004 An inherited disorder with characteristics of widespread calcifications of the basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease. The syndrome has been described in eight children from two interrelated families. The disorder is associated with a genetic locus on chromosome 2 and transmission is autosomal recessive. 900000000000017005 3321311012 20170131 1 900000000000207008 720579008 en 900000000000550004 Support for transition between a range of environments which may include hospital, educational or community facilities. 900000000000017005 3321335019 20170131 1 900000000000207008 7361000175106 en 900000000000550004 Respiratory failure causing high level of carbon dioxide in the blood. 900000000000017005 3321338017 20170131 1 900000000000207008 7431000175109 en 900000000000550004 Circulatory collapse of obscure cause which occurs in surgical patients who are thought to have a normal blood volume but in whom adequate circulation cannot be maintained. 900000000000017005 3321355018 20170131 1 900000000000207008 721082002 en 900000000000550004 An exceedingly rare autosomal dominant disorder reported in only a few patients to date with characteristics of dacryocystitis due to lacrimal canal stenosis and osteopoikilosis (demonstrated radiologically as discrete spherical osteosclerotic lesions of 2-10 mm in diameter). 900000000000017005 3321489016 20170131 1 900000000000207008 720598005 en 900000000000550004 This syndrome has characteristics of multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria. It has been observed in approximately 20 individuals. Clinical manifestations include the presence of cranial lumps, numerous pathologic fractures, elevated serum alkaline phosphatase levels, and dental caries. Transmission is autosomal dominant. 900000000000017005 3321493010 20170131 1 900000000000207008 720599002 en 900000000000550004 The association of limb defects and multivisceral anomalies. The syndrome has been reported in eight infants from four different families. Skeletal features include tetramelic campomelia and short long bones. Extraskeletal manifestations may include cervical lymphocele, generalized hydrops, polycystic kidneys, pancreas and liver, fibrotic liver or pancreas, polysplenia, heterotaxia, hypoplastic lung, short bowel. All newborns reported so far were either stillborn or died shortly after birth. 900000000000017005 3321494016 20170131 1 900000000000207008 720599002 en 900000000000550004 The association of limb defects and multivisceral anomalies. The syndrome has been reported in eight infants from four different families. Skeletal features include tetramelic campomelia and short long bones. Extraskeletal manifestations may include cervical lymphocele, generalised hydrops, polycystic kidneys, pancreas and liver, fibrotic liver or pancreas, polysplenia, heterotaxia, hypoplastic lung, short bowel. All newborns reported so far were either stillborn or died shortly after birth. 900000000000017005 3321499014 20170131 1 900000000000207008 720600004 en 900000000000550004 An extremely rare chondrodysplastic malformation syndrome with the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils and a mild intellectual disability were also noted. The syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972. 900000000000017005 3321503015 20170131 1 900000000000207008 720601000 en 900000000000550004 This syndrome has characteristics of camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. 900000000000017005 3321506011 20170131 1 900000000000207008 720602007 en 900000000000550004 A rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. To date only eight cases have been reported in the literature. Dysmorphic features include flat face, epicanthic folds, telecanthus, small downturned mouth, small ears with attached lobule and abnormal dental eruption and occlusion. Some patients had psychomotor development delayed. The reported cases suggest the condition is hereditary and is transmitted as an autosomal recessive trait. 900000000000017005 3321509016 20170131 1 900000000000207008 720603002 en 900000000000550004 An extremely rare multiple congenital anomaly syndrome with characteristics of distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Described in two sisters there have been no further descriptions in the literature since 1985. 900000000000017005 3321514017 20170131 1 900000000000207008 720604008 en 900000000000550004 Cap polyposis (CP) is characterized by multiple inflammatory polyps that predominantly affect the rectosigmoid area and manifest primarily as rectal bleeding with abnormal transit, constipation or diarrhea. To date, around 67 cases have been described in the world literature. The etiology of CP is still unclear but some causes such as lower colonic mucosal prolapse, mucosal ischemia, inflammation, abnormal colonic motility, repeated trauma to the colonic mucosa caused by straining, infection and immune disorders have been proposed. CP is not a premalignant condition. 900000000000017005 3321515016 20170131 1 900000000000207008 720604008 en 900000000000550004 Cap polyposis (CP) is characterised by multiple inflammatory polyps that predominantly affect the rectosigmoid area and manifest primarily as rectal bleeding with abnormal transit, constipation or diarrhoea. To date, around 67 cases have been described in the world literature. The aetiology of CP is still unclear but some causes such as lower colonic mucosal prolapse, mucosal ischaemia, inflammation, abnormal colonic motility, repeated trauma to the colonic mucosa caused by straining, infection and immune disorders have been proposed. CP is not a premalignant condition. 900000000000017005 3321519010 20170131 1 900000000000207008 720605009 en 900000000000550004 This syndrome has characteristics of non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported. 900000000000017005 3321525014 20170131 1 900000000000207008 720606005 en 900000000000550004 An extremely rare disorder found in less than ten patients worldwide with characteristics of congenital heart defect, sagittal craniosynostosis and severe developmental delay. Genital and renal anomalies, and various dysmorphic features may be present. Joint and palpebral abnormalities may also occur. The occurrence of the syndrome in a brother-sister sibship supports the hypothesis of autosomal recessive inheritance. Autosomal dominant inheritance and submicroscopic deletions have also been proposed as possible causes. 900000000000017005 3321531012 20170131 1 900000000000207008 720609003 en 900000000000550004 Describes the extremely rare triad of dilated cardiomyopathy, premature cataract and articular disease of the hips and spine with characteristics of hip joint degeneration, irregular intervertebral discs and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985. 900000000000017005 3321534016 20170131 1 900000000000207008 720610008 en 900000000000550004 The association of hypertrophic cardiomyopathy with variable malformations of the urogenital tract. To date, it has been described in two brothers born to nonconsanguineous parents. One of the brothers also had dysgenesis of the corpus callosum. The mode of transmission is unknown but may be X-linked or autosomal recessive. 900000000000017005 3321534016 20200131 0 900000000000207008 720610008 en 900000000000550004 The association of hypertrophic cardiomyopathy with variable malformations of the urogenital tract. To date, it has been described in two brothers born to nonconsanguineous parents. One of the brothers also had dysgenesis of the corpus callosum. The mode of transmission is unknown but may be X-linked or autosomal recessive. 900000000000017005 3321542015 20170131 1 900000000000207008 720612000 en 900000000000550004 This syndrome has characteristics of mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance. 900000000000017005 3321600014 20170131 1 900000000000207008 720632004 en 900000000000550004 Central bilateral macrogyria (rolandic and perisylvian) is a neuronal migration disorder with characteristics of pseudobulbar palsy, developmental delay, mild mental retardation and epilepsy. It has been described in at least four children. 900000000000017005 3321606015 20170131 1 900000000000207008 720633009 en 900000000000550004 A congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs. Fewer than 30 cases have been described, the majority of cases occurred in related families. The syndrome affects both the upper and lower limbs but, in general, the latter are less severely affected. Associated malformations (renal hypoplasia and vertebral and hemi-vertebral anomalies) have occasionally been reported. Mild facial dysmorphism has been described in isolated cases. The disease is transmitted as an autosomal recessive trait. Homozygous or compound heterozygous mutations of the LRP4 gene (11p12-p11.2) have been identified. 900000000000017005 3321610017 20170131 1 900000000000207008 720634003 en 900000000000550004 A rare autosomal dominant neurological disorder with characteristics of early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity and abnormal eye movements. 900000000000017005 3321614014 20170131 1 900000000000207008 720635002 en 900000000000550004 A rare syndrome with characteristics of facial dysmorphism, intellectual deficit and costovertebral abnormalities. To date, 13 cases have been reported in the literature. Dysmorphic features include brachycephaly, hypertelorism, broad nasal bridge, large philtrum, triangular-shaped mouth and micrognathia. There is often synophrys and a low hairline on the back. Costovertebral abnormalities are always present: short, bifid or fused ribs, bony bridges joining the posterior arches in some ribs, hemi vertebrae. Intellectual deficit is constant but the severity varies and patients also have cerebral abnormalities: cortical atrophy, hypoplasia of the corpus callosum and cerebellar vermis. 900000000000017005 3321618012 20170131 1 900000000000207008 720636001 en 900000000000550004 A syndrome of multiple congenital malformations with an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension) and obstructive renal disease (ectopic ureteric insertion, obstruction, hydronephrosis). Gastrointestinal tract and cardiac involvement have also been reported. An overlap with Kabuki syndrome is debated. 900000000000017005 3321622019 20170131 1 900000000000207008 720637005 en 900000000000550004 An axonal peripheral sensorimotor polyneuropathy associated with pyramidal involvement. So far, it has been described in 13 members of a large Tunisian family. Onset occurred during the first decade of life with progressive distal atrophy involving both the upper and lower limbs, associated with a mild pyramidal syndrome (brisk patellar and upper limb reflexes, absent ankle reflexes and unattainable plantar reflexes). Transmitted in an autosomal recessive manner and the disease-causing locus has been mapped to 8q13-21.1. 900000000000017005 3321626016 20170131 1 900000000000207008 720638000 en 900000000000550004 Belongs to the genetically heterogeneous group of Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy diseases, rare with only five patients reported in the literature so far. The syndrome has characteristics of rapidly progressive, asymmetric motor neuron degeneration with slow nerve conduction velocities, weakness and paralysis, without sensory loss. It is caused by mutations in the FIG4 gene (6q21). This gene encodes the enzyme polyphosphoinositide phosphatase. Transmitted in an autosomal recessive manner. 900000000000017005 3321634010 20170131 1 900000000000207008 720639008 en 900000000000550004 A rare ectodermal dysplasia syndrome to date described in 8 cases. The syndrome has characteristics of early-onset migratory ichthyosiform dermatosis, bilateral ocular coloboma, conductive hearing loss, seizures, intellectual disability and characteristic facial features. Ears are low-set with thick over-folded helices. Teeth are widely spaced and square in shape. Less constant findings are cleft palate or a less severe equivalent, cardiac defects, pectus excavatum and supernumerary nipples. Caused by mutations in the glycosylphosphatidylinositol gene PIGL located to 17p12-p11.2. Transmission is autosomal recessive. 900000000000017005 3321868019 20170131 1 900000000000207008 720724003 en 900000000000550004 A card carried in order to alert others in an emergency situation that the card holder has diabetes. 900000000000017005 3321940017 20170131 1 900000000000207008 720744009 en 900000000000550004 An oxygen delivery cannula with a rectangular reservoir pouch that rests between the patient's nose and upper lip. 900000000000017005 3321943015 20170131 1 900000000000207008 720742008 en 900000000000550004 An oxygen delivery cannula with a reservoir pouch that stores oxygen during exhalation and then delivers it as a bolus during inspiration. 900000000000017005 3321968018 20170131 1 900000000000207008 720749004 en 900000000000550004 A degenerative corneal disorder characterised by the association of congenital hereditary endothelial dystrophy with progressive postlingual sensorineural hearing loss. The ocular manifestations include diffuse bilateral corneal oedema occurring with severe corneal clouding, blurred vision, visual loss and nystagmus. Caused by mutations in the SLC4A11 gene located at the CHED2 locus on chromosome 20p13p12. 900000000000017005 3321970010 20170131 1 900000000000207008 720640005 en 900000000000550004 An extremely rare multiple congenital anomaly syndrome with characteristics of bilateral choanal atresia associated with cranio-facial dysmorphism, that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlap considerably with those of the CHARGE syndrome. 900000000000017005 3321974018 20170131 1 900000000000207008 720746006 en 900000000000550004 An ectodermal dysplasia syndrome with characteristics of severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia. 900000000000017005 3321977013 20170131 1 900000000000207008 720747002 en 900000000000550004 A rare malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. Cooks syndrome is congenital and presents with hypo/anonychia, small or absent distal phalanges and digitalization of the thumbs. Usually, the nails of digits 1-3 are progressively deformed, with anonychia congenita totalis in the digits 4-5 and in all toes. Additional features include hypoplasia of the distal phalanges in digits 2-4 with absence of the distal phalanx of digit 5. In the feet, there is absence of all distal phalanges of digits 2-5 with hypoplasia of the distal phalanx of digit 1. 900000000000017005 3321978015 20170131 1 900000000000207008 720747002 en 900000000000550004 A rare malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. Cooks syndrome is congenital and presents with hypo/anonychia, small or absent distal phalanges and digitalisation of the thumbs. Usually, the nails of digits 1-3 are progressively deformed, with anonychia congenita totalis in the digits 4-5 and in all toes. Additional features include hypoplasia of the distal phalanges in digits 2-4 with absence of the distal phalanx of digit 5. In the feet, there is absence of all distal phalanges of digits 2-5 with hypoplasia of the distal phalanx of digit 1. 900000000000017005 3321982018 20170131 1 900000000000207008 720748007 en 900000000000550004 A multiple malformation syndrome with characteristics of atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot and intellectual deficit. It has been described only once, in two sisters. 900000000000017005 3321993016 20170131 1 900000000000207008 720750004 en 900000000000550004 Syndrome with the unusual combination of spinocerebellar degeneration and corneal dystrophy. Three sisters born to normal consanguineous parents have been reported, one of who had only minor spinocerebellar signs without ocular involvement. This autosomal recessive syndrome differs from the Mousa-Al-Din-Al-Nassar syndrome by the subnormal intellectual development and the epithelial (versus stromal) nature of the corneal dystrophy. 900000000000017005 3321996012 20170131 1 900000000000207008 720751000 en 900000000000550004 A well-defined entity within the group of auto inflammatory disorders, it is a rare disease with 49 cases documented so far. It affects mainly young adults and is characterized by recurrent attacks of fever and deep abscess-like collections, most frequently localized in the abdomen. Aseptic abscesses may be either isolated or associated with an underlying condition such as relapsing polychondritis or inflammatory bowel disease. Antibiotics fail to cure the patients but dramatic improvements are seen with corticosteroids and immunosuppressive drugs. 900000000000017005 3321997015 20170131 1 900000000000207008 720751000 en 900000000000550004 A well-defined entity within the group of auto inflammatory disorders, it is a rare disease with 49 cases documented so far. It affects mainly young adults and is characterised by recurrent attacks of fever and deep abscess-like collections, most frequently localised in the abdomen. Aseptic abscesses may be either isolated or associated with an underlying condition such as relapsing polychondritis or inflammatory bowel disease. Antibiotics fail to cure the patients but dramatic improvements are seen with corticosteroids and immunosuppressive drugs. 900000000000017005 3322003013 20170131 1 900000000000207008 720752007 en 900000000000550004 A very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis. Less than 50 patients have been reported worldwide. The main clinical features include patellar aplasia or hypoplasia, associated with absent, delayed or irregular ossification of the ischiopubic junctions and/or the infra-acetabular axe-cut notches. Additional features found in the majority of reported patients include femur and foot anomalies. Craniofacial anomalies have been reported occasionally. Inherited in an autosomal dominant manner and is caused by mutations in the human TBX4 gene (chromosome 17q22). TBX4 mutations account for familial cases with a distinctive facial appearance and those without facial features. 900000000000017005 3322010019 20170131 1 900000000000207008 720753002 en 900000000000550004 A form of primary hypertrophic osteoarthropathy with characteristics of delayed closure of the cranial sutures and fontanelles, digital clubbing, arthropathy, and periostosis. To date, about 30 cases have been reported. May also be associated with congenital heart disease. It is caused by mutations in the HPGD gene (4q33-q34) and is inherited as an autosomal recessive trait. 900000000000017005 3322013017 20170131 1 900000000000207008 720754008 en 900000000000550004 This syndrome has characteristics of craniofacial dysplasia, cone-shaped physes of the hands and feet and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait. 900000000000017005 3322016013 20170131 1 900000000000207008 720755009 en 900000000000550004 A rare cranial malformation syndrome with characteristics of premature closure of both lambdoid sutures and the posterior sagittal suture resulting in abnormal skull contour and dysmorphic facial features. Short stature, developmental delay, epilepsy and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull and hydrocephalus. 900000000000017005 3322020012 20170131 1 900000000000207008 720756005 en 900000000000550004 A rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes. The syndrome has characteristics of a spectrum of developmental anomalies that include distinctive facial dysmorphism, cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia/omphalocele and diastasis recti. 900000000000017005 3322024015 20170131 1 900000000000207008 720757001 en 900000000000550004 A poly-malformation syndrome with characteristics of craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia and genital and breast anomalies. Less than ten cases have been described so far. 900000000000017005 3322149018 20170131 1 900000000000207008 720812002 en 900000000000550004 A very rare condition with characteristics of craniosynostosis and clavicular hypoplasia, delayed closure of the fontanelle, anal anomalies, genitourinary malformations and skin eruptions. It has been described in seven patients from four unrelated families. Cranial abnormalities include a coronal synostosis with wide-open anterior and posterior fontanelles and large parietal foramina. In some patients the skin eruption has been classified as porokeratosis. Sensorineural hearing loss and mild to severe developmental delay are common. The condition is transmitted as an autosomal recessive trait. 900000000000017005 3322153016 20170131 1 900000000000207008 720813007 en 900000000000550004 A malformation disorder with characteristics of sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant. 900000000000017005 3322157015 20170131 1 900000000000207008 720814001 en 900000000000550004 This syndrome has a variable clinical picture of premature coronal suture synostosis with a mild midfacial hypoplasia and hypertelorism, downslanting external palpebral fissures, beaking of the nose and brachydactyly (involving only fingers, not metacarpals). It has been reported in only one family with five affected individuals in three generations. Prenatal diagnosis of abnormal head shape was done at a routine ultrasound examination for one of the grandchildren, at 28 weeks of pregnancy. The pedigree suggests an autosomal dominantly inherited condition, but no gene could be identified for this syndrome, considered as a distinct craniosynostosis entity. 900000000000017005 3322163012 20170131 1 900000000000207008 720815000 en 900000000000550004 Syndrome with characteristics of sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism. The syndrome was described in two brothers from a non-consanguineous family. No causative mutation has been identified so far. 900000000000017005 3322167013 20170131 1 900000000000207008 720816004 en 900000000000550004 A form of syndromic craniosynostosis with characteristics of craniosynostosis, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner. 900000000000017005 3322168015 20170131 1 900000000000207008 720816004 en 900000000000550004 A form of syndromic craniosynostosis with characteristics of craniosynostosis, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favourable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner. 900000000000017005 3322173014 20170131 1 900000000000207008 720817008 en 900000000000550004 A form of syndromic craniosynostosis with characteristics of highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies has also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal. 900000000000017005 3322176018 20170131 1 900000000000207008 720818003 en 900000000000550004 A form of syndromic craniosynostosis with characteristics of sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. 900000000000017005 3322180011 20170131 1 900000000000207008 720819006 en 900000000000550004 A form of syndromic craniosynostosis with characteristics of unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin, eyes and intestine. Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningocele and development of desmoplastic medulloblastoma have been reported. 900000000000017005 3322183013 20170131 1 900000000000207008 720820000 en 900000000000550004 A rare inflammatory bowel disease with characteristics of early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurrent colitis that leads to untreatable diarrhea. There have been no further descriptions in the literature since 1991. 900000000000017005 3322184019 20170131 1 900000000000207008 720820000 en 900000000000550004 A rare inflammatory bowel disease with characteristics of early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurrent colitis that leads to untreatable diarrhoea. There have been no further descriptions in the literature since 1991. 900000000000017005 3322194012 20170131 1 900000000000207008 720401009 en 900000000000550004 A rare genetic disease reported in two siblings of consanguineous Arab parents with characteristics of cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991. 900000000000017005 3322195013 20170131 1 900000000000207008 720401009 en 900000000000550004 A rare genetic disease reported in two siblings of consanguineous Arab parents with characteristics of cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anaemia, and intellectual disability. There have been no further descriptions in the literature since 1991. 900000000000017005 3322198010 20170131 1 900000000000207008 720825005 en 900000000000550004 This syndrome has characteristics of non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. 900000000000017005 3322201017 20170131 1 900000000000207008 720826006 en 900000000000550004 A form of skeletal dysplasia with characteristics of severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes. So far, less than 20 patients have been reported, including multiple members of five families from the Czech Republic. Stature and intelligence are normal. Radiographs reveal platyspondyly, irregular vertebral endplates, deformed femoral heads, pelvic dysplasia and narrowed intervertebral spaces. Mutations in the COL2A1 gene have been detected in several of the reported patients. Transmission is autosomal dominant. 900000000000017005 3322207018 20170131 1 900000000000207008 720827002 en 900000000000550004 Syndrome caused by impairment of mitochondria. Whilst mitochondrial disorders may be caused by impairment of a single stage of energy production, individuals with multiple mitochondrial dysfunctions syndrome have reduced function of more than one stage. Symptoms begin in early life and affected individuals usually do not live past infancy. Symptoms include encephalopathy, hypotonia, seizures and psychomotor delay. Most affected babies have lactic acidosis that can be life threatening. 900000000000017005 3322215015 20170131 1 900000000000207008 720830009 en 900000000000550004 A severe form of neuronal ceroid lipofuscinosis with onset at birth and characteristics of primary microcephaly, neonatal epilepsy and death in early infancy. It is a rare form of neuronal ceroid lipofuscinosis with only around 10 cases reported in the literature so far. Patients present with postnatal respiratory insufficiency, seizures immediately after birth and a lower than normal head circumference. Transmitted in an autosomal recessive manner and is caused by mutations in the CTSD gene (designated CLN10; 11p15.5) encoding the lysosomal enzyme cathepsin D. 900000000000017005 3322280018 20170131 1 900000000000207008 720850008 en 900000000000550004 A very rare ectodermal dysplasia syndrome with the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails. 900000000000017005 3322287015 20170131 1 900000000000207008 720851007 en 900000000000550004 An extremely rare disorder of sex development, reported in only two siblings to date. The syndrome has clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies, dysmorphic features, muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested. 900000000000017005 3322288013 20170131 1 900000000000207008 720851007 en 900000000000550004 An extremely rare disorder of sex development, reported in only two siblings to date. The syndrome has clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalised chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies, dysmorphic features, muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested. 900000000000017005 3322289017 20170131 1 900000000000207008 720852000 en 900000000000550004 A rare syndrome with the association of congenital hypertrichosis in the anterior cervical region, peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993. 900000000000017005 3322295016 20170131 1 900000000000207008 720853005 en 900000000000550004 A rare form of combined immunodeficiency with characteristics of microcephaly, growth retardation and T and B cell lymphopenia. Patients present in childhood with growth retardation, microcephaly, urogenital and bone malformations, dysmorphic features, including ''bird-like'' facial dysmorphism, and features of combined immunodeficiency. Some patients may also present with autoimmune cytopenia. This disease is caused by mutations in the NHEJ1 (or Cernunos) gene (2q35). The resulting defect of Cernunnos/XLF, a core protein of the non-homologous end-joining (NHEJ) pathway, affects the major mechanism of DNA double-strand break repair. Transmission is autosomal recessive. 900000000000017005 3322295016 20210930 0 900000000000207008 720853005 en 900000000000550004 A rare form of combined immunodeficiency with characteristics of microcephaly, growth retardation and T and B cell lymphopenia. Patients present in childhood with growth retardation, microcephaly, urogenital and bone malformations, dysmorphic features, including ''bird-like'' facial dysmorphism, and features of combined immunodeficiency. Some patients may also present with autoimmune cytopenia. This disease is caused by mutations in the NHEJ1 (or Cernunos) gene (2q35). The resulting defect of Cernunnos/XLF, a core protein of the non-homologous end-joining (NHEJ) pathway, affects the major mechanism of DNA double-strand break repair. Transmission is autosomal recessive. 900000000000017005 3322300019 20170131 1 900000000000207008 720854004 en 900000000000550004 A phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy characterized by strokes, vision loss, migraines, pseudotumors, dementia and occasionally renal disease. 900000000000017005 3322301015 20170131 1 900000000000207008 720854004 en 900000000000550004 A phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leucodystrophy characterised by strokes, vision loss, migraines, pseudotumours, dementia and occasionally renal disease. 900000000000017005 3322305012 20170131 1 900000000000207008 720855003 en 900000000000550004 A multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay. Additional features include brachycephaly and other facial anomalies. Non-facial anomalies have also been reported: postaxial polydactyly, genital hypoplasia. All cases reported so far have been sporadic, suggesting that the syndrome may be due to a new dominant mutation. 900000000000017005 3322310011 20170131 1 900000000000207008 720856002 en 900000000000550004 Syndrome with the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. Appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1). 900000000000017005 3322313013 20170131 1 900000000000207008 720857006 en 900000000000550004 A newly described variant of Ehlers-Danlos syndrome (EDS). Affected patients exhibit features consistent with EDS, including joint hypermobility, skin fragility and aortic dilatation. They also have periventricular heterotopia, which has characteristics of focal epilepsy usually beginning in the second decade of life. Intelligence is generally normal. Some patients also have cardiac anomalies such as patent ductus arteriosus, bicuspid aortic valves, or aneurysmal dilatation of the sinus of Valsalva. Caused by mutations in the filamin A gene (FLNA) located at locus Xq28 on the long arm of chromosome X. This suggests a novel cause of EDS. The disease is transmitted as an X-linked dominant trait. 900000000000017005 3322316017 20170131 1 900000000000207008 720858001 en 900000000000550004 A form of Ehlers-Danlos syndrome (EDS) with characteristics of joint hypermobility, skin hyperextensibility and cardiac valvular defects. 900000000000017005 3322321019 20170131 1 900000000000207008 720859009 en 900000000000550004 A form of Ehlers-Danlos syndrome (EDS) with characteristics of severe kyphoscoliosis in conjunction with sensorineural hearing impairment and normal urinary pyridinoline excretion. 900000000000017005 3322327015 20170131 1 900000000000207008 720860004 en 900000000000550004 A form of Ehlers-Danlos syndrome (EDS) with characteristics of distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations. 900000000000017005 3322328013 20170131 1 900000000000207008 720860004 en 900000000000550004 A form of Ehlers-Danlos syndrome (EDS) with characteristics of distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, haemorrhagic diathesis and multisystem fragility-related manifestations. 900000000000017005 3322335017 20170131 1 900000000000207008 720861000 en 900000000000550004 A form of Ehlers-Danlos syndrome (EDS) with characteristics of premature ageing with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia and defective wound healing with atrophic scars. 900000000000017005 3322338015 20170131 1 900000000000207008 720862007 en 900000000000550004 A form of Ehlers-Danlos syndrome (EDS), with characteristic of spontaneous dissection of medium-sized arteries during young adulthood including mainly the iliac, femoral and renal arteries. 900000000000017005 3322341012 20170131 1 900000000000207008 720863002 en 900000000000550004 A rare familial skeletal dysplasia with characteristics of multiple epiphyseal dysplasia with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family. A mutation in PTHR1 gene is responsible for this syndrome. Transmission is autosomal recessive. 900000000000017005 3322345015 20170131 1 900000000000207008 720864008 en 900000000000550004 A lysosomal storage disease belonging to the group of sphingolipidoses. It is very rare with less than 10 cases reported in the literature so far. Clinically, it is a severe neurovisceral disease manifesting immediately after birth and following a rapidly progressive fatal course. The neurological signs and symptoms include hypotonia, massive myoclonic bursts, abnormal ocular movements and dystonia. Grand mal seizures and seizures triggered by tactile stimuli have been described. Patients also develop hepatosplenomegaly. Death usually occurs from respiratory failure following repeated pulmonary infections. The disease is caused by mutations in the PSAP gene (10q21) leading to absence or non-functionality of the prosaposin protein. The mode of inheritance is autosomal recessive. 900000000000017005 3322578011 20170131 1 900000000000207008 720940008 en 900000000000550004 A disorder that affects the ability to break down lipids leading to increased amounts of triglycerides and cholesterol in the blood. Caused by mutations in the lipase C hepatic type (LIPC) gene. This gene provides instructions for making hepatic lipase. LIPC gene mutations prevent the release of hepatic lipase from the liver or decrease the enzyme's activity in the bloodstream. As a result very low-density lipoproteins and intermediate-density lipoproteins are not efficiently converted into LDLs, and HDLs carrying cholesterol and triglyceride remain in the bloodstream. It is unclear what effect this change in lipid levels has on people with hepatic lipase deficiency. 900000000000017005 3322613018 20170131 1 900000000000207008 720950009 en 900000000000550004 A type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation. The disease usually presents at birth but can be discovered at any time during life and thus can affect all ages. Familial thrombocytosis is caused by germline mutations in the THPO gene (3q26.3-q27) or in the MPL (MPL S505N) gene (1p34). 900000000000017005 3322614012 20170131 1 900000000000207008 720950009 en 900000000000550004 A type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and haemorrhage but does not cause myeloproliferation. The disease usually presents at birth but can be discovered at any time during life and thus can affect all ages. Familial thrombocytosis is caused by germline mutations in the THPO gene (3q26.3-q27) or in the MPL (MPL S505N) gene (1p34). 900000000000017005 3322618010 20170131 1 900000000000207008 720951008 en 900000000000550004 An extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy. 900000000000017005 3322623010 20170131 1 900000000000207008 720952001 en 900000000000550004 This syndrome has characteristics of fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females. 900000000000017005 3322627011 20170131 1 900000000000207008 720953006 en 900000000000550004 Fibular dimelia accompanied by complete tibial agenesis and mirror polydactyly or foot duplication is a rare developmental anomaly reported in at least 11 cases. It can be isolated or associated with ulnar dimelia, facial abnormalities and sacrococcygeal teratoma. The cause is unknown, but has been suggested that a teratogenic event occurs as developmental specification reaches the level of the future knee. A central role for the mesenchymal precursor, from which chondro-osseous morphology emerges, has also been suggested. Treatment is surgical and prosthesis is needed in order to improve the quality of life of affected children. 900000000000017005 3322632012 20170131 1 900000000000207008 720954000 en 900000000000550004 Filippi syndrome has manifestations of microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly and teeth and hair anomalies may also be present. Transmission is autosomal recessive. 900000000000017005 3322636010 20170131 1 900000000000207008 720955004 en 900000000000550004 Syndrome with characteristics of psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies. Less than 10 patients have been described in the literature so far. Although the majority of reported cases were sporadic, the syndrome has been reported in one pair of siblings (a brother and sister) with an apparently autosomal recessive inheritance pattern. 900000000000017005 3322641019 20170131 1 900000000000207008 720956003 en 900000000000550004 Acortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, with characteristics of severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved. Less than 150 cases have been described in the literature so far. Can occur at any age. Patients have severe speech disturbances and most are mute.Chewing and swallowing are severely impaired. Caused by developmental or acquired bilateral lesions of the anterior opercula. In children, it presents congenitally (bilateral opercular polymicrogyria) or as an acquired disorder due to encephalitis, epilepsy and neurodegenerative disorders. The syndrome is generally sporadic but some familial cases have been described. 900000000000017005 3322646012 20170131 1 900000000000207008 720957007 en 900000000000550004 An extremely rare multi-systemic genetic disorder with characteristics of intellectual disability, deafness, skeletal abnormalities and coarse facial features.The syndrome is exceedingly rare and has been reported in only a few patients to date. Male and female patients have been described. The main clinical features include moderate to severe intellectual deficit, congenital sensorineural hearing impairment and broad, stubby hands and feet. A coarse face with full lips and cheeks is also found. These signs are reported to become more prominent with age. The pattern of inheritance appears to be autosomal recessive. 900000000000017005 3322650017 20170131 1 900000000000207008 720958002 en 900000000000550004 Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome) has characteristics of megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanelles, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay. Less than 30 cases have been reported worldwide. Protruding ears, prominent coccyx bone and congenital heart defects are frequently present. 900000000000017005 3322695012 20170131 1 900000000000207008 720941007 en 900000000000550004 A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3). 900000000000017005 3322696013 20170131 1 900000000000207008 720941007 en 900000000000550004 A severe form of congenital disorders of N-linked glycosylation characterised by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of haemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3). 900000000000017005 3322722012 20170131 1 900000000000207008 720975008 en 900000000000550004 An event lasting less than a minute in an infant younger than 1 year of age reported by an observer that is now resolved. Including one or more of the following: cyanosis or pallor; absent, decreased, or irregular breathing; marked change in tone (hypertonia or hypotonia); and altered level of responsiveness. Diagnosed only when there is no explanation for a qualifying event after a history and physical examination and used to evaluate patients who are at lower risk for a subsequent event or serious underlying disorder. 900000000000017005 3322731012 20170131 1 900000000000207008 720976009 en 900000000000550004 A form of congenital disorders of N-linked glycosylation with characteristics of severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita, vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). Caused by loss-of-function mutations of the gene ALG3 (3q27.3). 900000000000017005 3322739014 20170131 1 900000000000207008 720977000 en 900000000000550004 A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation. 900000000000017005 3322740011 20170131 1 900000000000207008 720977000 en 900000000000550004 A form of congenital disorders of N-linked glycosylation that is characterised by gastrointestinal symptoms (diarrhoea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), oedema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation. 900000000000017005 3322749012 20170131 1 900000000000207008 720978005 en 900000000000550004 A form of congenital disorders of N-linked glycosylation with characteristics of progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23). 900000000000017005 3322757010 20170131 1 900000000000207008 720979002 en 900000000000550004 A form of ectodermal dysplasia syndrome with characteristics of short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones, particularly elbows, carpals, metacarpals, and spine, intellectual disability and facial dysmorphism. 900000000000017005 3322762011 20170131 1 900000000000207008 720980004 en 900000000000550004 Syndrome characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontal pyorrhea. Total permanent alopecia and periodontal pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant. 900000000000017005 3322763018 20170131 1 900000000000207008 720980004 en 900000000000550004 Syndrome characterised by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontal pyorrhoea. Total permanent alopecia and periodontal pyorrhoea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant. 900000000000017005 3322767017 20170131 1 900000000000207008 720981000 en 900000000000550004 This syndrome has characteristics of the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism. It has been described in two brothers born to non consanguineous parents of Caucasian origin. Electroencephalogram findings were normal in both cases. Autosomal recessive transmission was considered likely but an X-linked recessive mode of inheritance could not be excluded. 900000000000017005 3322773016 20170131 1 900000000000207008 720982007 en 900000000000550004 This syndrome has characteristics of the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1. 900000000000017005 3322776012 20170131 1 900000000000207008 720983002 en 900000000000550004 Syndrome with characteristics of severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophrys and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents. 900000000000017005 3322783017 20170131 1 900000000000207008 720984008 en 900000000000550004 A form of acromelic dysplasia with the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits which all appear short), epiphyseal changes in the hips and in some, abnormal dentition and delayed bone age. A rare disease with less than 20 cases reported in the literature, however, it is likely under diagnosed. Caused by mutations in the growth differentiation factor 5 (GDF5) gene, located on chromosome 20q11.2, encoding CDMP1 (cartilage derived morphogenetic protein). CDMP1 belongs to the TGF beta super family and plays a role in bone growth and joint morphogenesis. Transmitted as an autosomal dominant condition. 900000000000017005 3322791014 20170131 1 900000000000207008 720986005 en 900000000000550004 This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. It has been described in a few unrelated male patients born to mothers with mild incontinentia pigmenti. The first two reported children died before three years of age from multiple infections with Gram-positive cocci, Gram-negative bacilli, mycobacteria, and fungi. The syndrome is classified as a X-linked osteopetrosis and is caused by mutations in the IKBKG (NEMO) gene (Xq28). 900000000000017005 3322792019 20170131 1 900000000000207008 720986005 en 900000000000550004 This syndrome is characterised by severe immunodeficiency, osteopetrosis, lymphoedema and anhidrotic ectodermal dysplasia. It has been described in a few unrelated male patients born to mothers with mild incontinentia pigmenti. The first two reported children died before three years of age from multiple infections with Gram-positive cocci, Gram-negative bacilli, mycobacteria, and fungi. The syndrome is classified as a X-linked osteopetrosis and is caused by mutations in the IKBKG (NEMO) gene (Xq28). 900000000000017005 3322795017 20170131 1 900000000000207008 720987001 en 900000000000550004 An extremely rare syndrome described in three members of a family (a mother and her two children) with the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children and alopecia, cardiac abnormalities and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986. 900000000000017005 3322826017 20170131 1 900000000000207008 719800009 en 900000000000550004 A multiple congenital anomalies, intellectual disability syndrome with characteristics of sensorineural hearing loss, onychodystrophy, osteodystrophy, mild to profound intellectual disability and seizures. About 50 cases have been reported to date. Caused by mutations in the TBC1D24 gene (16p13.3) encoding a protein involved in the regulation of membrane trafficking. Inherited autosomal recessively. 900000000000017005 3322951015 20170131 1 900000000000207008 717773005 en 900000000000550004 Syndrome with characteristics of dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. It has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex. 900000000000017005 3323018016 20170131 1 900000000000207008 721007005 en 900000000000550004 Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents. 900000000000017005 3323021019 20170131 1 900000000000207008 721008000 en 900000000000550004 A very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaphyseal dysplasia and severe intellectual deficit. Eight cases have been reported in the literature in two unrelated families. Dysmorphic features include hypertelorism, depressed nasal bridge, and large nose with a large nasal tip, anteverted nostrils and wide mouth with thick lips. Affected patients do not achieve language ability. The condition is probably hereditary, and transmitted as an autosomal recessive trait. 900000000000017005 3323025011 20170131 1 900000000000207008 721009008 en 900000000000550004 Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male siblings from Kuwaiti first cousins. The clinical and radiological features of these patients were reported as a distinct cardio-skeletal syndrome. 900000000000017005 3323032019 20170131 1 900000000000207008 721010003 en 900000000000550004 An extremely rare type of heart-hand syndrome. Described in two families to date, with characteristics of upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation). 900000000000017005 3323037013 20170131 1 900000000000207008 19092004 en 900000000000550004 Holt-Oram syndrome is the most common form of heart-hand syndrome with characteristics of skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. The clinical picture of covers a wide spectrum of upper extremity defects, always including the radial ray, and cardiac defects. Caused by a mutation in the TBX5 gene located on the long arm of chromosome 12 (12q24.1). 900000000000017005 3323044016 20170131 1 900000000000207008 721013001 en 900000000000550004 A very rare type of heart-hand syndrome described in three members of a Spanish family to date. The syndrome has characteristics of cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle. 900000000000017005 3323049014 20170131 1 900000000000207008 721014007 en 900000000000550004 A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family. The syndrome has characteristics of adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. 900000000000017005 3323054017 20170131 1 900000000000207008 721015008 en 900000000000550004 Syndrome that is characterised by communicating hydrocephalus, endocardial fibroelastosis and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The aetiology of the syndrome is unknown but a viral or genetic origin has been proposed. 900000000000017005 3323055016 20170131 1 900000000000207008 721015008 en 900000000000550004 Syndrome that is characterized by communicating hydrocephalus, endocardial fibroelastosis and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The etiology of the syndrome is unknown but a viral or genetic origin has been proposed. 900000000000017005 3323063015 20170131 1 900000000000207008 721017000 en 900000000000550004 A very rare syndrome with characteristics of intellectual deficit, postaxial polydactyly and epilepsy. To date, seven individuals in three families have been reported. Facial features are not characteristic except for a prominent jaw. Concordant features in all subjects are postaxial polydactyly, which in four individuals affect also the feet, and intellectual deficit, which is usually severe, with absent or indistinct speech. Seizures are common with onset in the first months of life or in early childhood. Cutaneous syndactyly, camptodactyly and clinodactyly of fingers and brachydactyly and syndactyly of the toes have been recorded. 900000000000017005 3323088011 20170131 1 900000000000207008 721882001 en 900000000000550004 Syndrome with the association of proximal fusion of the radius and ulna and congenital amegakaryocytic thrombocytopenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15). 900000000000017005 3323106011 20170131 1 900000000000207008 721975004 en 900000000000550004 Syndrome with the association of epiphyseal dysplasia, short stature, microcephaly and in the first reported cases congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive. 900000000000017005 3323119010 20170131 1 900000000000207008 721877008 en 900000000000550004 A genetic variant of Mendelian susceptibility to mycobacterial disease with characteristics of mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections. The prevalence is unknown. The disease presents in early childhood. BCG is the most common infection encountered, usually after receiving the vaccination. Non-typhoidal Salmonella infections are also seen in half of all cases. Caused by homozygous mutations in the IL12B gene on chromosome 5q31.1-q33.1 which encodes for the IL-12p40 subunit. There are 9 different IL12B mutant alleles identified, including 2 small insertions, 3 small deletions, 2 splice site mutations, 1 large deletion and 1 nonsense mutation. 900000000000017005 3323160015 20170131 1 900000000000207008 721883006 en 900000000000550004 An extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay and dysmorphic facial features (long face, prominent nose and ears). 900000000000017005 3323286018 20170131 1 900000000000207008 721057002 en 900000000000550004 Thoracic insufficiency syndrome is a complex condition involving congenital chest wall deformities that affect normal breathing and lung growth. It results from serious defects affecting the ribs or chest wall, such as severe scoliosis or rib fusion, and various hypoplastic thorax syndromes such as Jeune Syndrome and Jarcho-Levin syndrome. 900000000000017005 3323311015 20170131 1 900000000000207008 722019000 en 900000000000550004 A very rare genetic malformation syndrome with characteristics of upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances and congenital bilateral non-progressive mixed hearing loss. Prevalence is not known. To date, four affected families from Venezuela, Italy, Hungary, and Turkey (discordant monozygotic twins) have been described. The syndrome has been linked to mutations in the SALL4 gene (20q13.2) encoding a transcription factor. Inherited in an autosomal dominant manner. 900000000000017005 3323325019 20170131 1 900000000000207008 721069005 en 900000000000550004 This syndrome has characteristics of bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant. 900000000000017005 3323362017 20170131 1 900000000000207008 721072003 en 900000000000550004 This syndrome has characteristics of short stature, anterior pituitary hormone deficiency, small sella turcica and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25). 900000000000017005 3323366019 20170131 1 900000000000207008 721073008 en 900000000000550004 This syndrome has characteristics of short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin siblings born to consanguineous parents. 900000000000017005 3323369014 20170131 1 900000000000207008 721074002 en 900000000000550004 Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3) and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity. Less than 10 cases have been reported in the literature so far. It is caused by homozygous inactivating mutations of the ALS gene (IGFALS; 16p13.3). Primary ALS deficiency is inherited in an autosomal recessive manner. 900000000000017005 3323370010 20170131 1 900000000000207008 721074002 en 900000000000550004 Short stature due to primary acid-labile subunit (ALS) deficiency is characterised by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3) and hyperinsulinaemia, in the absence of growth hormone (GH) deficiency or GH insensitivity. Less than 10 cases have been reported in the literature so far. It is caused by homozygous inactivating mutations of the ALS gene (IGFALS; 16p13.3). Primary ALS deficiency is inherited in an autosomal recessive manner. 900000000000017005 3323374018 20170131 1 900000000000207008 721075001 en 900000000000550004 A very rare syndrome with the association of thin and short upper and lower tarsus and absence of the lower eyelashes. It has been described in 11 patients from a four-generation family. There is no other unusual feature. Inheritance is autosomal dominant. 900000000000017005 3323377013 20170131 1 900000000000207008 721076000 en 900000000000550004 Syndrome that is characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection and failure to thrive. It has been recently described in two siblings born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed. 900000000000017005 3323378015 20170131 1 900000000000207008 721076000 en 900000000000550004 Syndrome that is characterised by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection and failure to thrive. It has been recently described in two siblings born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotaemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed. 900000000000017005 3323400012 20170131 1 900000000000207008 721083007 en 900000000000550004 A very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis and nail abnormalities. 900000000000017005 3323401011 20170131 1 900000000000207008 721083007 en 900000000000550004 A very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterised by the association of hypoparathyroidism, nephropathy, congenital lymphoedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis and nail abnormalities. 900000000000017005 3323405019 20170131 1 900000000000207008 721084001 en 900000000000550004 An exceedingly rare genetic disorder with characteristics of cutaneous pigmentation anomalies, ocular disorders and hearing loss. The syndrome was described in 1990 in two patients from the same Yemenite family. A brother and sister were described as having cutaneous patchy hypo and hyperpigmentation on the trunk and extremities, grey hair, white brows and lashes. Ocular manifestations were microcornea, coloboma and abnormalities of the anterior chamber of the eye. Both patients had severe hearing loss and dental abnormalities. Intelligence was reported to be normal. Their parents were unaffected and possibly consanguineous. The cause of this syndrome has not been determined. The inheritance pattern appears to be autosomal recessive. 900000000000017005 3323409013 20170131 1 900000000000207008 721085000 en 900000000000550004 This syndrome is characterized by sensorineural hearing loss, generalized enamel hypoplasia of the permanent dentition with normal primary dentition and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive. 900000000000017005 3323410015 20170131 1 900000000000207008 721085000 en 900000000000550004 This syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive. 900000000000017005 3323436010 20170131 1 900000000000207008 721086004 en 900000000000550004 This syndrome has characteristics of sensorineural deafness, bilateral synostosis of the fourth and fifth metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance). 900000000000017005 3323443016 20170131 1 900000000000207008 721087008 en 900000000000550004 This syndrome has characteristics of severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopenia, microcephaly and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene is q1-21 region of the X chromosome. 900000000000017005 3323448013 20170131 1 900000000000207008 721088003 en 900000000000550004 A very rare, generally severe form of neonatal diabetes mellitus with characteristics of a triad of developmental delay, epilepsy, and neonatal diabetes. Fewer than 40 cases have been reported to date. DEND syndrome represents the most severe end of the neonatal diabetes mellitus spectrum. The associated neurologic features range from mild psychomotor retardation to severe developmental delay. Patients also have therapy-resistant epilepsy and muscle hypotonia. Caused in most cases by gain of channel function mutations in the KCNJ11 gene (11p15.1), encoding a subunit of the ATP-sensitive potassium (KATP) channel. Rare reports of specific mutations in the ABCC8 gene (11p15.1) have also been associated with DEND. The pattern of inheritance of DEND syndrome is either de novo mutation, dominant, or very rarely recessive. 900000000000017005 3323451018 20170131 1 900000000000207008 721089006 en 900000000000550004 Syndrome with the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphism, small stature, sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to consanguineous parents. Transmission is autosomal recessive. 900000000000017005 3323455010 20170131 1 900000000000207008 721090002 en 900000000000550004 Disease with characteristics of recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five siblings in a family of Kirghizian origin (Central Asia). Three of the siblings also presented with keratitis leading to visual impairment or blindness. Transmission is autosomal recessive. 900000000000017005 3323460014 20170131 1 900000000000207008 721091003 en 900000000000550004 Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasia. It has signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. 900000000000017005 3323463011 20170131 1 900000000000207008 721092005 en 900000000000550004 This syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. It has been described in two monozygotic twins. The syndrome is caused by a missense point mutation in the gene coding for beta-actin, a nonmuscle actin isoform. Mutations in nonmuscle actin isoforms may be associated with developmental anomalies and neurological disorders such as dystonia. 900000000000017005 3323464017 20170131 1 900000000000207008 721092005 en 900000000000550004 This syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome. It has been described in two monozygotic twins. The syndrome is caused by a missense point mutation in the gene coding for beta-actin, a nonmuscle actin isoform. Mutations in nonmuscle actin isoforms may be associated with developmental anomalies and neurological disorders such as dystonia. 900000000000017005 3323471010 20170131 1 900000000000207008 721093000 en 900000000000550004 A very rare disorder with characteristics of autoimmunity, lymphadenopathy and/or splenomegaly. The prevalence is not known. The disorder has been reported in fewer than 30 patients to date. Age of onset is highly variable, ranging from childhood to young adulthood. A possible increased risk of cancer has been suggested in these patients. The cause is not known but it is thought to be hereditary. Biologically, DALD has characteristics of normal double-negative T-cells (DNTs) and defective in vitro FAS-mediated apoptosis. The pattern of inheritance of DALD is not known. 900000000000017005 3323480010 20170131 1 900000000000207008 721094006 en 900000000000550004 Diaphanospondylodysostosis has characteristics of absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests and cleft palate. As some patients were born to consanguineous parents, this disorder is likely to be transmitted as an autosomal recessive trait. The patients are stillborn or die soon after birth of respiratory insufficiency. 900000000000017005 3323485017 20170131 1 900000000000207008 721095007 en 900000000000550004 Syndrome with the association of classical diaphragmatic hernia (Bochdalek type), severe lung hypoplasia and variable associated malformations. It has been reported only once in four successive fetuses (two females and two males) born to a nonconsanguineous couple. The spectrum of malformations is wide and includes omphalocele (one case), severe limb hypoplasia (two cases), syndactyly of the toes (two cases), extra spleen (one case) and an ossification defect of the skull (one case). 900000000000017005 3323487013 20170131 1 900000000000207008 721096008 en 900000000000550004 Syndrome with the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant. 900000000000017005 3323498014 20170131 1 900000000000207008 721099001 en 900000000000550004 A glycogen storage disease of adults with characteristics of progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia. The prevalence is unknown. More than 50 cases have been described to date in Ashkenazi (in most cases) and non-Ashkenazi Jewish individuals. Presents after the age of 40, with urinary incontinence (indicative of neurogenic bladder) often being the first manifestation. Caused by a mutation in the GBE1 gene, encoding the glucan (1, 4-alpha-) branching enzyme 1 (GBE). 900000000000017005 3323503012 20170131 1 900000000000207008 721100009 en 900000000000550004 An extremely rare form of carbohydrate deficient glycoprotein syndrome with clinical characteristics in the single reported case to date of moderate mental