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Congenital dysplasia of limb 88631000119105 SNOMED CT code SNOMED code 88631000119105 name Congenital dysplasia of limb status active date introduced 2012-09-01 fully specified name(s) Congenital dysplasia of limb (disorder) synonyms Congenital dysplasia of limb attributes - group1 Occurrence Congenital 255399007 Finding site Limb structure 66019005 Associated morphology Dysplasia 25723000 Pathological process Pathological developmental process 308490002 parents Congenital anomaly of limb 60475009 children Absent radius, anogenital anomalies syndrome 771264005 Acrodysostosis 66758006 Acrofacial dysostosis Catania type 720419000 Acrofacial dysostosis Kennedy Teebi type 720427009 Acrofacial dysostosis Palagonia type 720429007 Acrofacial dysostosis Rodriguez type 720430002 Acrofrontofacionasal dysostosis 720408003 Acrofrontofacionasal dysostosis type 2 721835008 Angel-shaped phalangoepiphyseal dysplasia 720984008 Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome 1187115008 Ballard syndrome 722298001 Baller-Gerold syndrome 77608001 Bipartite talus 763128009 Brachydactyly syndrome type E 63711009 Brachymorphism with onychodysplasia and dysphalangism syndrome 720573009 Canine trochlear notch incongruity 371630006 removed: 2014-01-31 Carney complex, trismus, pseudocamptodactyly syndrome 766881008 Chitty Hall Baraitser syndrome 716238003 Congenital dysplasia of left upper limb 16008831000119109 Congenital dysplasia of right upper limb 16009071000119106 Congenital glenoid dysplasia 2111000119106 Congenital hip dysplasia 52781008 Congenital onychodysplasia of index fingers 403281007 Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome 721086004 Developmental dislocation of ankle and/or foot 443905007 Developmental dislocation of joint of shoulder region 444462006 Dysplasia of head of femur Meyer type 715861004 Dyssegmental dysplasia Silverman Handmaker type 765204000 Ectrodactyly polydactyly syndrome 771177009 Endocrine-cerebro-osteodysplasia syndrome 723309006 Eye defects, arachnodactyly, cardiopathy syndrome 1208342001 Femur fibula ulna complex 1230098009 Goldblatt syndrome 717823001 Hallux varus, preaxial polysyndactyly syndrome 771180005 Heart-hand syndrome Slovenian type 721014007 Heart-hand syndrome type 2 721010003 Heart-hand syndrome type 3 721013001 Hip dysplasia Beukes type 721148005 Holt-Oram syndrome 19092004 Liebenberg syndrome 764437006 Lissencephaly type 3 metacarpal bone dysplasia syndrome 718720007 Madelung's deformity 4530000 Melorheostosis of left foot 16467301000119103 Melorheostosis of left lower leg 16467261000119106 Melorheostosis of right foot 16466741000119102 Melorheostosis of right lower leg 16466581000119101 Mesomelic dysplasia 205473008 Morava Mehes syndrome 719843001 Multiple epiphyseal dysplasia with severe proximal femoral dysplasia 763893008 Oculodento-osseous dysplasia 254137006 Oculootoradial syndrome 722019000 Patella dysplasia 389276005 Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome 722211006 Patterson Stevenson Fontaine syndrome 724069009 Pectus excavatum, macrocephaly, dysplastic nails syndrome 763863002 Pelvis shoulder dysplasia 719298001 Pelviscapular dysplasia 719299009 Pili torti onychodysplasia syndrome 723451000 Postaxial tetramelic oligodactyly 770946000 Rhizomelic dysplasia 1263463009 Scholte syndrome 722002002 Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome 773625007 Sugarman brachydactyly 1187132007 Tetramelic monodactyly 770945001 Thrombocythemia with distal limb defect 771511005 Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome 764857004 Ulna metaphyseal dysplasia syndrome 715242008 hierarchies a selection of possible paths
SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Disorder of limb 128605003 Congenital anomaly of limb 60475009 Congenital dysplasia of limb 88631000119105 ancestors sorted most to least specific
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