Congenital anomaly of skeletal bone

Code	`8447006`
Semantic tag	disorder
Module	international
Definition	defined
Effective time	20020131

73362100746,XX disorder of sex development with skeletal anomalies syndrome disorder

897319005Abnormal tapering of phalanx of finger disorder

897325009Abnormal tapering of phalanx of foot disorder

897495004Abnormally short long bone disorder

63413008Accessory ossification centre disorder

42725006Achondrogenesis, type IA disorder

14870002Achondrogenesis, type IB disorder

279082008Acromesomelic dysplasia syndrome disorder

720984008Angel-shaped phalangoepiphyseal dysplasia disorder

723991007Angio-osteohypertrophic syndrome disorder

765750001Angioosteohypotrophic syndrome disorder

725141006Atelosteogenesis type 1 disorder

254055004Atelosteogenesis type 2 disorder

725142004Atelosteogenesis type 3 disorder

715487005Autosomal recessive distal osteolysis syndrome disorder

722298001Ballard syndrome disorder

50123005Beals auriculo-osteodysplasia syndrome disorder

278832007Bent bone dysplasia group disorder

897560004Butterfly vertebra disorder

720603002Camptodactyly syndrome Guadalajara type 2 disorder

720612000Cardiospondylocarpofacial syndrome disorder

254149007Carpal-tarsal osteolysis with nephropathy disorder

389272007Carpotarsal osteochondromatosis disorder

763353000Cerebrofacioarticular syndrome disorder

389273002Cherubism with gingival fibromatosis disorder

205465004Chondrodysplasia disorder

278715001Chondrodysplasia punctata disorder

62501005Chondroectodermal dysplasia disorder

770625006Combined immunodeficiency with faciooculoskeletal anomalies syndrome disorder

896775003Congenital abnormal broad shape of phalanx disorder

897000009Congenital abnormal bullet shape of phalanx of hand disorder

896741004Congenital abnormal cone shape of epiphysis of phalanx of hand disorder

897622003Congenital abnormal cone shape of epiphysis of phalanx of toe disorder

897635007Congenital abnormal cone shape of epiphysis with epiphyseal arrest disorder

898218002Congenital abnormal fusion of bones of upper limb disorder

895623007Congenital abnormal rhomboid shape of distal phalanx of little finger disorder

895622002Congenital abnormal rhomboid shape of middle phalanx of little finger disorder

895624001Congenital abnormal rhomboid shape of proximal phalanx of little finger disorder

896706003Congenital abnormal slender shape of long bone disorder

896834003Congenital abnormal triangular shape of epiphysis disorder

895639000Congenital abnormal triangular shape of phalanx of hand disorder

895640003Congenital abnormal triangular shape of phalanx of toe disorder

127328006Congenital absence of skeletal bone disorder

237513002Congenital anomaly of bone and joint disorder

1367860001Congenital anomaly of bone of head disorder

726116007Congenital anomaly of bone of shoulder girdle disorder

123570003Congenital anomaly of carpal bone disorder

92999004Congenital anomaly of cervical vertebra disorder

123561001Congenital anomaly of femur disorder

123562008Congenital anomaly of fibula disorder

123558002Congenital anomaly of humerus disorder

93005008Congenital anomaly of hyoid bone disorder

93010007Congenital anomaly of lumbar vertebra disorder

123571004Congenital anomaly of metacarpal bone disorder

123569004Congenital anomaly of metatarsal bone disorder

890399008Congenital anomaly of patella disorder

93017005Congenital anomaly of pelvic bones disorder

123559005Congenital anomaly of radius disorder

123568007Congenital anomaly of tarsal bone disorder

93027004Congenital anomaly of thoracic vertebra disorder

123563003Congenital anomaly of tibia disorder

123560000Congenital anomaly of ulna disorder

373427001Congenital bony fusion of phalanges disorder

1356839001Congenital bowing of bone of lower limb disorder

716098006Congenital bowing of long bone disorder

1003299007Congenital clinodactyly of distal phalanx of little finger disorder

840483000Congenital coronal cleft of vertebra disorder

1163579007Congenital deformity of bone of forearm disorder

1362123005Congenital dolichostenomelia disorder

897590006Congenital dysplasia of bone caused by drug disorder

1142196000Congenital dysplasia of spine disorder

268276007Congenital exostosis disorder

38827001Congenital fusion of spine disorder

1145425009Congenital hypoplasia of bone of extremity disorder

1145446000Congenital hypoplasia of vertebra disorder

15967101000119100Congenital malformation of bone of thorax disorder

782332007Congenital negative ulnar variant of wrist disorder

127701000119109Congenital positive ulnar variant of wrist disorder

782689003Congenital pseudoarthrosis of limb disorder

65144005Congenital spinal meningocele disorder

13236000Congenital spondylolisthesis disorder

16899741000119100Congenital spondylolysis disorder

205367006Congenital synostosis of lower limb bones disorder

205398008Congenital valgus ankle disorder

205397003Congenital varus ankle disorder

1260142000Congenital vertebral, cardiac, renal anomalies syndrome disorder

763318007Connective tissue disorder due to lysyl hydroxylase-3 deficiency disorder

732248005Coxoauricular syndrome disorder

205506004Craniodiaphyseal dysplasia disorder

36601008Craniometaphyseal dysplasia disorder

59399004Cutis laxa, x-linked disorder

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

719800009DOORS syndrome disorder

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

441686004Delta phalanx of finger disorder

254099008Desbuquois syndrome disorder

34643004Diaphyseal dysplasia disorder

58561002Diastrophic dysplasia disorder

205368001Duplication of lower limb bone disorder

254123002Dysosteosclerosis disorder

109420003Dysostosis disorder

279081001Dysostosis multiplex group disorder

254104009Dysplasia with decreased bone density disorder

254117007Dysplasia with defective mineralisation disorder

254094003Dysplasias with significant membranous bone involvement disorder

1363579009Dysplastic cortical hyperostosis disorder

1222661007Early-onset calcifying leucoencephalopathy, skeletal dysplasia disorder

398114001Ehlers-Danlos syndrome disorder

268274005Enchondromatosis disorder

733031004Epilepsy, microcephaly, skeletal dysplasia syndrome disorder

254080004Epiphyseal dysplasia disorder

733416004Exostosis, anetoderma, brachydactyly type E syndrome disorder

253917003Failure of differentiation of bones of forearm disorder

205366002Failure of differentiation of bones of lower limb disorder

71322004Familial articular hypermobility syndrome disorder

254153009Familial expansile osteolysis disorder

720957007Fountain syndrome disorder

254150007Francois syndrome disorder

720958002Frank-Ter Haar syndrome disorder

725904009Genochondromatosis type 2 disorder

389214003Ghosal haematodiaphyseal dysplasia disorder

717813005Global developmental delay, osteopenia, ectodermal defect syndrome disorder

723827003Grant syndrome disorder

32985001Greig cephalopolysyndactyly syndrome disorder

63122002Hajdu-Cheney syndrome disorder

721008000Hall Riggs syndrome disorder

35031005Hanhart's syndrome disorder

721009008Heart defect and limb shortening syndrome disorder

763535005Hyperphalangy disorder

9723006Hyperphosphatasaemia with bone disease disorder

205468002Hypochondroplasia disorder

1418007Hypoplastic chondrodystrophy disorder

763658004Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome disorder

278834008Idiopathic multicentric osteolysis disorder

327877008Incomplete ossification disorder

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

721874001Juberg Hayward syndrome disorder

763774001Keipert syndrome disorder

53974002Kniest dysplasia disorder

254059005Kniest-Stickler dysplasia disorder

111304003Kozlowski spondylometaphyseal dysplasia disorder

41069008Langer-Giedion syndrome disorder

63387002Larsen syndrome disorder

764956007Larsen-like osseous dysplasia, short stature syndrome disorder

763778003Larsen-like syndrome B3GAT3 type disorder

41656005Leri's pleonosteosis syndrome disorder

93132001Lethal Kniest-like syndrome disorder

719409004Lethal Larsen-like syndrome disorder

721973006Lipodystrophy, intellectual disability, deafness syndrome disorder

722459008Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome disorder

44697002Melorheostosis disorder

205473008Mesomelic dysplasia disorder

28681006Metaphyseal chondrodysplasia disorder

717221005Metaphyseal dysplasia Braun Tinschert type disorder

22764001Metatropic dysplasia disorder

724140002Microspherophakia with metaphyseal dysplasia syndrome disorder

66038001Miller syndrome disorder

766992008Multicentric carpotarsal osteolysis syndrome disorder

716868003Multicentric osteolysis nodulosis arthropathy spectrum disorder

1003384005Multiple congenital defects of vertebral segmentation disorder

62628008Multiple synostosis syndrome disorder

716170005Nathalie syndrome disorder

389236000Neonatal osteosclerotic dysplasia disorder

722109008Osteocraniostenosis disorder

254101001Osteodysplastic primordial dwarfism disorder

78314001Osteogenesis imperfecta disorder

254144002Osteoglophonic dysplasia disorder

82663009Osteopathia striata disorder

1926006Osteopetrosis disorder

9147009Osteopoikilosis disorder

49347007Osteosclerosis disorder

254124008Osteosclerosis - Stanescu type disorder

722117000Osteosclerosis, developmental delay, craniosynostosis syndrome disorder

784010006Otopalatodigital syndrome spectrum disorder disorder

254133005Pachydermoperiostosis - familial disorder

89497006Persistent human tail disorder

7603007Platyspondylia disorder

773279006Postaxial polydactyly, dental, vertebral anomalies syndrome disorder

1172689007Prenatal-onset spinal muscular atrophy with congenital bone fractures disorder

254058002Pseudodiastrophic dysplasia disorder

721887007Puerto Rican infant hypotonia syndrome disorder

719258003Pyknoachondrogenesis disorder

27837003Pyle metaphyseal dysplasia disorder

723999009RHYNS syndrome disorder

1263463009Rhizomelic dysplasia disorder

763868006SHOX-related short stature disorder

254092004Saldino-Mainzer dysplasia disorder

722002002Scholte syndrome disorder

722114007Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome disorder

57917004Seckel syndrome disorder

719213009Short stature Brussels type disorder

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

773625007Short stature, onychodysplasia, facial dysmorphism, hypotrichosis 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

67531005Spina bifida disorder

278708009Spondylodysplastic group disorder

278713008Spondyloepiphyseal dysplasia congenita disorder

254078005Spondylometaphyseal dysplasia - Sutcliffe type disorder

782912001Spondylometaphyseal dysplasia A4 type disorder

773304004Spondylometaphyseal dysplasia Golden type disorder

719304005Spondylometaphyseal dysplasia Schmidt type disorder

719205008Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome disorder

702339001Spondyloperipheral dysplasia disorder

30028006Spondyloschisis disorder

773702002Sterile multifocal osteomyelitis with periostitis and pustulosis disorder

1155640009Supernumerary bone of foot disorder

87294007Supernumerary vertebra disorder

254152004Torg type osteolysis disorder

370481004Transitional vertebra disorder

716334004Urban Rogers Meyer syndrome disorder

733110004Van den Bosch syndrome disorder

763616002Velofacioskeletal syndrome disorder

764697003Verloove Vanhorick Brubakk syndrome disorder

2884008Weill-Marchesani syndrome disorder

763619009White forelock with malformations syndrome disorder

254151006Winchester syndrome disorder

782786001X-linked calvarial hyperostosis disorder

Congenital anomaly of skeletal bone

Synonyms

Parents (2)

Children (219)