Skeletal dysplasia 105986008 SNOMED CT code SNOMED code 105986008 name Skeletal dysplasia status active date introduced 2002-01-31 fully specified name(s) Congenital skeletal dysplasia (disorder) synonyms Skeletal dysplasia Congenital skeletal dysplasia Osteochondrodysplasia Osteodysplasia attributes - group1 Pathological process Pathological developmental process 308490002 Associated morphology Dysplasia 25723000 Finding site Skeletal system structure 113192009 Occurrence Congenital 255399007 parents Congenital anomaly of musculoskeletal system 73573004 Disorder of skeletal system 88230002 children 3-M syndrome 702342007 Achondrogenesis 2391001 Acromesomelic dysplasia syndrome 279082008 Angel-shaped phalangoepiphyseal dysplasia 720984008 Ballard syndrome 722298001 Baller-Gerold syndrome 77608001 Beals auriculo-osteodysplasia syndrome 50123005 Bent bone dysplasia group 278832007 Brachyrachia (short spine dysplasia) 254087001 Camptodactyly syndrome Guadalajara type 2 720603002 Cherubism with gingival fibromatosis 389273002 Chondrodysplasia 205465004 Chondrodysplasia punctata 278715001 Chondroectodermal dysplasia 62501005 Cloverleaf skull, asphyxiating thoracic dysplasia syndrome 783181006 Congenital hip dysplasia 52781008 Craniofacial conodysplasia syndrome 720754008 Craniolenticulosutural dysplasia 725100001 Cutis laxa, x-linked 59399004 Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome 721086004 Defects of the tubular (and flat) bones and/or axial skeleton 254043005 Defects of tubular bones and spine 718395009 Developmental dislocation of ankle and/or foot 443905007 Developmental dislocation of joint of shoulder region 444462006 Diaphyseal dysplasia 34643004 Disorganized development of cartilaginous and fibrous components of the skeleton 254140006 Dysostosis 109420003 Dysostosis multiplex group 279081001 Dysplasia with decreased bone density 254104009 Dysplasia with defective mineralization 254117007 Dysplasia with increased bone density 254120004 Dysplasias with significant membranous bone involvement 254094003 Ehlers-Danlos syndrome 398114001 Epilepsy, microcephaly, skeletal dysplasia syndrome 733031004 Epiphyseal dysplasia 254080004 Familial osteodysplasia Anderson type 773278003 Fountain syndrome 720957007 Frank-Ter Haar syndrome 720958002 Greig cephalopolysyndactyly syndrome 32985001 Hajdu-Cheney syndrome 63122002 Heart defect and limb shortening syndrome 721009008 Heide syndrome 716189005 Holoprosencephaly with caudal dysgenesis syndrome 771146007 Hypochondroplasia 205468002 Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome 770755007 Kniest-Stickler dysplasia group 278712003 Leri's pleonosteosis syndrome 41656005 Lethal occipital encephalocele, skeletal dysplasia syndrome 773672007 Liebenberg syndrome 764437006 Lipodystrophy, intellectual disability, deafness syndrome 721973006 Marshall-Smith syndrome 73284007 Mesomelic dysplasia 205473008 Metaphyseal chondrodysplasia 28681006 Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome 724145007 Metatropic dysplasia 22764001 Microspherophakia with metaphyseal dysplasia syndrome 724140002 Miller syndrome 66038001 Multiple dislocations with dysplasia 254098000 Multiple synostosis syndrome 62628008 Occipital dysplasia 19441002 Omodysplasia 725164008 Osteochondrodysplasia with osteopetrosis 50108000 Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome 722108000 Osteocraniostenosis 722109008 Osteodysplasia 205490002 removed: 2019-07-31 Osteodysplastic primordial dwarfism 254101001 Osteogenesis imperfecta 78314001 Osteoplastic dysplasia 389191003 Otopalatodigital syndrome spectrum disorder 784010006 Parietal foramina with clavicular hypoplasia 771338002 Patella dysplasia 389276005 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 702347001 Pyknoachondrogenesis 719258003 Rhizomelic dysplasia Patterson Lowry type 715505002 RHYNS syndrome 723999009 Saldino-Mainzer dysplasia 254092004 Scholte syndrome 722002002 Seckel syndrome 57917004 Short rib dysplasia group (with or without polydactyly) 278710006 Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome 774155009 Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome 773625007 Skeletal dysplasia brachydactyly syndrome 733095006 Skeletal dysplasia with epilepsy and short stature syndrome 715428003 Spondylodysplastic group 278708009 Spondyloepiphyseal dysplasia congenita 367530008 removed: 2015-01-31 Spondyloepiphyseal dysplasia congenita 278713008 Spondylometaphyseal dysplasia 784006008 Spondyloperipheral dysplasia 702339001 Sterile multifocal osteomyelitis with periostitis and pustulosis 773702002 Symphalangism-brachydactyly syndrome 129580008 removed: 2017-07-31 Tarsal-carpal coalition syndrome 702312009 Weill-Marchesani syndrome 2884008 hierarchies a selection of possible paths
SNOMED CT Concept 138875005 404684003 64572001 5294002 276654001 73573004 105986008 138875005 404684003 118234003 106028002 928000 88230002 105986008 ancestors sorted most to least specific
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