Congenital connective tissue disorder 363039000 SNOMED CT code SNOMED code 363039000 name Congenital connective tissue disorder status active date introduced 2002-01-31 fully specified name(s) Congenital connective tissue disorder (disorder) synonyms Congenital connective tissue disorder attributes - group1 Occurrence Congenital 255399007 Finding site Connective tissue structure 21793004 parents children 16q24.1 microdeletion syndrome 770760006 Allantoic cyst 17234001 Aneurysm osteoarthritis syndrome 785808002 Banki syndrome 733093004 Bilateral developmental anomaly of pleurae 840426005 Congenital absence of tendon 271018002 Congenital anomaly of cartilage 67988000 Congenital anomaly of peritoneum 128346003 Congenital anomaly of pleural folds 46722007 Congenital deformity of mitral valve annulus 448497000 Congenital epicardial cyst 204398004 Congenital Fanconi syndrome 236466005 Congenital hypoplasia of annulus fibrosus of aorta 871654009 Congenital macular corneal dystrophy 95488001 Congenital malformation of vitreous humor 253236002 Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome 733453005 Congenital short costocoracoid ligament 725101002 Congenital shortening of tendon 45987002 Congenital stromal corneal dystrophy 702359002 Congenital syphilitic osteochondritis 58392004 Congenital total lipoatrophy 403423006 removed: 2014-07-31 Congenital total lipodystrophy 284449005 Congenital trigger finger 1263650006 Congenital/hereditary cutis laxa 402783001 removed: 2019-07-31 Dilatation of tricuspid annulus 253377001 Ehlers-Danlos and osteogenesis imperfecta syndrome 733457006 Ehlers-Danlos syndrome 398114001 Extensor tendons of finger anomalies 782937006 Familial articular hypermobility syndrome 71322004 Farber's lipogranulomatosis 79935000 Hypoplasia of left atrioventricular valve annulus in double inlet ventricle 449228007 Hypoplasia of mitral valve annulus 449270002 Hypoplasia of right atrioventricular valve annulus in double inlet ventricle 449040002 Inherited cutis laxa 254220005 Late congenital syphilitic osteochondropathy 1142092000 Leydig cell agenesis 56212008 Mandibuloacral dysostosis 109419009 Marfanoid habitus, inguinal hernia, advanced bone age syndrome 782780007 Neonatal Marfan syndrome 763839005 Progeroid and marfanoid aspect, lipodystrophy syndrome 773644000 Pulmonary valve ring hypoplasia 253586007 Severe myopia, generalized joint laxity, short stature syndrome 1217372003 Tricuspid annulus hypoplasia 253376005 Williams syndrome 63247009 hierarchies a selection of possible paths
SNOMED CT Concept 138875005 404684003 64572001 105969002 363039000 138875005 404684003 64572001 66091009 363039000 ancestors sorted most to least specific
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