Skeletal dysplasia

Code	`105986008`
Semantic tag	disorder
Module	international
Definition	defined
Effective time	20020131

7023420073-M syndrome disorder

2391001Achondrogenesis disorder

279082008Acromesomelic dysplasia syndrome disorder

720984008Angel-shaped phalangoepiphyseal dysplasia disorder

722298001Ballard syndrome disorder

50123005Beals auriculo-osteodysplasia syndrome disorder

278832007Bent bone dysplasia group disorder

720603002Camptodactyly syndrome Guadalajara type 2 disorder

205465004Chondrodysplasia disorder

278715001Chondrodysplasia punctata disorder

62501005Chondroectodermal dysplasia disorder

783181006Cloverleaf skull, asphyxiating thoracic dysplasia syndrome disorder

1300218002Congenital dysplasia of ankle joint disorder

897590006Congenital dysplasia of bone caused by drug disorder

1142190006Congenital dysplasia of head of femur disorder

1299163000Congenital dysplasia of joint of foot disorder

1297353008Congenital dysplasia of joint of knee disorder

1297362005Congenital dysplasia of joint of shoulder region disorder

1142185008Congenital dysplasia of radius disorder

1142196000Congenital dysplasia of spine disorder

52781008Congenital hip dysplasia disorder

732248005Coxoauricular syndrome disorder

720754008Craniofacial conodysplasia syndrome disorder

715421009Craniofrontonasal dysplasia disorder

725100001Craniolenticulosutural dysplasia disorder

59399004Cutis laxa, x-linked disorder

1236845001DONSON-related microcephaly, short stature, limb abnormalities spectrum disorder

721086004Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome disorder

254043005Defects of the tubular (and flat) bones and/or axial skeleton disorder

443905007Developmental dislocation of ankle and/or foot disorder

58561002Diastrophic dysplasia disorder

254140006Disorganised development of cartilaginous and fibrous components of the skeleton disorder

109420003Dysostosis disorder

279081001Dysostosis multiplex group disorder

254104009Dysplasia with decreased bone density disorder

254117007Dysplasia with defective mineralisation disorder

254120004Dysplasia with increased bone density disorder

254094003Dysplasias with significant membranous bone involvement disorder

1363579009Dysplastic cortical hyperostosis disorder

398114001Ehlers-Danlos syndrome disorder

733031004Epilepsy, microcephaly, skeletal dysplasia syndrome disorder

254080004Epiphyseal dysplasia disorder

71322004Familial articular hypermobility syndrome disorder

773278003Familial osteodysplasia Anderson type disorder

720957007Fountain syndrome disorder

720958002Frank-Ter Haar syndrome disorder

32985001Greig cephalopolysyndactyly syndrome disorder

63122002Hajdu-Cheney syndrome disorder

1197057002Hallermann Streiff like syndrome disorder

721009008Heart defect and limb shortening syndrome disorder

205468002Hypochondroplasia disorder

770755007Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome disorder

53974002Kniest dysplasia disorder

254059005Kniest-Stickler dysplasia disorder

1172898008Kosaki overgrowth syndrome disorder

41656005Leri's pleonosteosis syndrome disorder

93132001Lethal Kniest-like syndrome disorder

773672007Lethal occipital encephalocele, skeletal dysplasia syndrome disorder

764437006Liebenberg syndrome disorder

721973006Lipodystrophy, intellectual disability, deafness syndrome disorder

1373746006Mandibuloacral dysplasia associated to MTX2 disorder

73284007Marshall-Smith syndrome disorder

205473008Mesomelic dysplasia disorder

28681006Metaphyseal chondrodysplasia disorder

724145007Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome disorder

22764001Metatropic dysplasia disorder

724140002Microspherophakia with metaphyseal dysplasia syndrome disorder

66038001Miller syndrome disorder

254098000Multiple dislocations with dysplasia disorder

62628008Multiple synostosis syndrome disorder

1179299005NEK9-related lethal skeletal dysplasia disorder

19441002Occipital dysplasia disorder

50108000Osteochondrodysplasia with osteopetrosis disorder

722109008Osteocraniostenosis disorder

254101001Osteodysplastic primordial dwarfism disorder

1234828008Osteofibrous dysplasia disorder

78314001Osteogenesis imperfecta disorder

389191003Osteoplastic dysplasia disorder

254124008Osteosclerosis - Stanescu type disorder

1237513008Osteosclerotic metaphyseal dysplasia disorder

784010006Otopalatodigital syndrome spectrum disorder disorder

1169363004Overgrowth, metaphyseal undermodelling, spondylar dysplasia syndrome disorder

771338002Parietal foramina with clavicular hypoplasia disorder

389276005Patella dysplasia disorder

702347001Polycystic lipomembranous osteodysplasia with sclerosing leucoencephalopathy disorder

23150001Proteus syndrome disorder

719258003Pyknoachondrogenesis disorder

723999009RHYNS syndrome disorder

1263463009Rhizomelic dysplasia disorder

763868006SHOX-related short stature disorder

254092004Saldino-Mainzer dysplasia disorder

722002002Scholte syndrome disorder

57917004Seckel syndrome disorder

254050009Short rib dysplasia disorder

1197586007Short stature, advanced bone age, early-onset osteoarthritis syndrome disorder

774155009Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome disorder

773625007Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome disorder

1284851009Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome disorder

789777007Short-limb skeletal dysplasia with severe combined immunodeficiency disorder

733095006Skeletal dysplasia brachydactyly syndrome disorder

715428003Skeletal dysplasia with epilepsy and short stature syndrome disorder

278708009Spondylodysplastic group disorder

278713008Spondyloepiphyseal dysplasia congenita disorder

784006008Spondylometaphyseal dysplasia disorder

702339001Spondyloperipheral dysplasia disorder

773702002Sterile multifocal osteomyelitis with periostitis and pustulosis disorder

78675000Stickler syndrome disorder

702312009Tarsal-carpal coalition syndrome disorder

783004003Thin ribs, tubular bones, dysmorphism syndrome disorder

2884008Weill-Marchesani syndrome disorder

Synonyms

Parents (2)

Children (110)