| children | - 46,XX disorder of sex development with skeletal anomalies syndrome 733621007
- Accessory ossification center 63413008
- Achondrogenesis, type IA 42725006
- Achondrogenesis, type IB 14870002
- Acromesomelic dysplasia syndrome 279082008
- Angel-shaped phalangoepiphyseal dysplasia 720984008
- Angio-osteohypertrophic syndrome 723991007
- Angioosteohypotrophic syndrome 765750001
- Atelosteogenesis type 1 725141006
- Atelosteogenesis type 2 254055004
- Atelosteogenesis type 3 725142004
- Autosomal recessive distal osteolysis syndrome 715487005
- Ballard syndrome 722298001
- Beals auriculo-osteodysplasia syndrome 50123005
- Bent bone dysplasia group 278832007
- Brachydactyly type A3 890438002
- Brachydactyly type D 890439005
- Brachyphalangia 38998004
- Butterfly vertebra 897560004
- Camptodactyly syndrome Guadalajara type 2 720603002
- Cardiospondylocarpofacial syndrome 720612000
- Carpal-tarsal osteolysis with nephropathy 254149007
- Carpotarsal osteochondromatosis 389272007
- Cerebrofacioarticular syndrome 763353000
- Cherubism with gingival fibromatosis 389273002
- Choanal atresia with radial ray hypoplasia 232373003
- Chondrodysplasia 205465004
- Chondrodysplasia punctata 278715001
- Chondroectodermal dysplasia 62501005
- Combined immunodeficiency with faciooculoskeletal anomalies syndrome 770625006
- Congenital abnormal shape of hindpaw phalanx 92914005 removed: 2014-01-31
- Congenital abnormality of skull and face bones 268239009
- Congenital absence of skeletal bone 127328006
- Congenital anomaly of bone and joint 237513002
- Congenital anomaly of bone of shoulder girdle 726116007
- Congenital anomaly of carpal bone 123570003
- Congenital anomaly of cervical vertebra 92999004
- Congenital anomaly of femur 123561001
- Congenital anomaly of fetal head bones 93003001
- Congenital anomaly of fibula 123562008
- Congenital anomaly of humerus 123558002
- Congenital anomaly of hyoid bone 93005008
- Congenital anomaly of lumbar vertebra 93010007
- Congenital anomaly of metacarpal bone 123571004
- Congenital anomaly of metatarsal bone 123569004
- Congenital anomaly of patella 890399008
- Congenital anomaly of pelvic bones 93017005
- Congenital anomaly of radius 123559005
- Congenital anomaly of rib 123572006
- Congenital anomaly of tarsal bone 123568007
- Congenital anomaly of thoracic vertebra 93027004
- Congenital anomaly of tibia 123563003
- Congenital anomaly of ulna 123560000
- Congenital bony fusion of phalanges 373427001
- Congenital bowing of long bone 716098006
- Congenital coronal cleft of vertebra 840483000
- Congenital deformity of bone of forearm 1163579007
- Congenital dysplasia of bone caused by drug 897590006
- Congenital exostosis 268276007
- Congenital fusion of spine 38827001
- Congenital leg bone bowing 253947001
- Congenital malformation of sternum 254041007
- Congenital malposition of hindpaw phalanx 93325003 removed: 2014-01-31
- Congenital negative ulnar variant of wrist 782332007
- Congenital positive ulnar variant of wrist 127701000119109
- Congenital pseudoarthrosis of limb 782689003
- Congenital spinal meningocele 65144005
- Congenital spondylolisthesis 13236000
- Congenital synostosis of lower limb bones 205367006
- Congenital thickening of hindpaw phalanx 93401007 removed: 2014-01-31
- Congenital valgus ankle 205398008
- Congenital varus ankle 205397003
- Congenital vertebral, cardiac, renal anomalies syndrome 1260142000
- Connective tissue disorder due to lysyl hydroxylase-3 deficiency 763318007
- Coxoauricular syndrome 732248005
- Craniodiaphyseal dysplasia 205506004
- Craniometaphyseal dysplasia 36601008
- Cutis laxa, x-linked 59399004
- Defects of the tubular (and flat) bones and/or axial skeleton 254043005
- Defects of tubular bones and spine 718395009
- Delta phalanx of finger 441686004
- Desbuquois syndrome 254099008
- Diaphyseal dysplasia 34643004
- Diastrophic dysplasia 58561002
- DONSON-related microcephaly, short stature, limb abnormalities spectrum 1236845001
- DOORS syndrome 719800009
- Duplication of lower limb bone 205368001
- Dysosteosclerosis 254123002
- Dysostosis 109420003
- Dysostosis multiplex group 279081001
- Dysplasia with decreased bone density 254104009
- Dysplasia with defective mineralization 254117007
- Dysplasias with significant membranous bone involvement 254094003
- Dysplastic cortical hyperostosis 783165001
- Early-onset calcifying leukoencephalopathy, skeletal dysplasia 1222661007
- Ehlers-Danlos syndrome 398114001
- Enchondromatosis 268274005
- Epilepsy, microcephaly, skeletal dysplasia syndrome 733031004
- Epiphyseal dysplasia 254080004
- Exostosis, anetoderma, brachydactyly type E syndrome 733416004
- Failure of differentiation of bones of forearm 253917003
- Failure of differentiation of bones of lower limb 205366002
- Familial articular hypermobility syndrome 71322004
- Familial expansile osteolysis 254153009
- Fountain syndrome 720957007
- Francois syndrome 254150007
- Frank-Ter Haar syndrome 720958002
- Genochondromatosis type 2 725904009
- Ghosal hematodiaphyseal dysplasia 389214003
- Global developmental delay, osteopenia, ectodermal defect syndrome 717813005
- Grant syndrome 723827003
- Greig cephalopolysyndactyly syndrome 32985001
- Hajdu-Cheney syndrome 63122002
- Hall Riggs syndrome 721008000
- Hanhart's syndrome 35031005
- Heart defect and limb shortening syndrome 721009008
- Heide syndrome 716189005
- Hyperphalangy 763535005
- Hyperphosphatasemia with bone disease 9723006
- Hypochondroplasia 205468002
- Hypoplastic chondrodystrophy 1418007
- Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome 763658004
- Idiopathic multicentric osteolysis 278834008
- Incomplete ossification 327877008
- Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome 770755007
- Juberg Hayward syndrome 721874001
- Keipert syndrome 763774001
- Kniest dysplasia 53974002
- Kniest-Stickler dysplasia 254059005
- Kozlowski spondylometaphyseal dysplasia 111304003
- Lack of ossification of forepaw phalanx 93097006 removed: 2014-01-31
- Langer-Giedion syndrome 41069008
- Larsen syndrome 63387002
- Larsen-like osseous dysplasia, short stature syndrome 764956007
- Larsen-like syndrome B3GAT3 type 763778003
- Leri's pleonosteosis syndrome 41656005
- Lethal Kniest-like syndrome 93132001
- Lethal Larsen-like syndrome 719409004
- Lipodystrophy, intellectual disability, deafness syndrome 721973006
- Longitudinal deficiency of tibia AND/OR fibula 111315008
- Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome 722459008
- Mammary digital nail syndrome 718679004
- Melorheostosis 44697002
- Mesomelic dysplasia 205473008
- Metaphyseal chondrodysplasia 28681006
- Metaphyseal dysplasia Braun Tinschert type 717221005
- Metatropic dysplasia 22764001
- Microspherophakia with metaphyseal dysplasia syndrome 724140002
- Miller syndrome 66038001
- Multicentric carpotarsal osteolysis syndrome 766992008
- Multicentric osteolysis nodulosis arthropathy spectrum 716868003
- Multiple congenital defects of vertebral segmentation 1003384005
- Multiple synostosis syndrome 62628008
- Nathalie syndrome 716170005
- Neonatal osteosclerotic dysplasia 389236000
- Oculoskeletal dysplasia 699381006
- Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome 722108000
- Osteocraniostenosis 722109008
- Osteodysplastic primordial dwarfism 254101001
- Osteogenesis imperfecta 78314001
- Osteoglophonic dysplasia 254144002
- Osteopathia striata 82663009
- Osteopetrosis 1926006
- Osteopoikilosis 9147009
- Osteosclerosis 49347007
- Osteosclerosis - Stanescu type 254124008
- Osteosclerosis, developmental delay, craniosynostosis syndrome 722117000
- Otopalatodigital syndrome spectrum disorder 784010006
- Pachydermoperiostosis - familial 254133005
- Persistent human tail 89497006
- Platyspondylia 7603007
- Postaxial polydactyly, dental, vertebral anomalies syndrome 773279006
- Prenatal-onset spinal muscular atrophy with congenital bone fractures 1172689007
- Pseudodiastrophic dysplasia 254058002
- Puerto Rican infant hypotonia syndrome 721887007
- Pyknoachondrogenesis 719258003
- Pyle metaphyseal dysplasia 27837003
- Rhizomelic dysplasia 1263463009
- RHYNS syndrome 723999009
- Saldino-Mainzer dysplasia 254092004
- Scholte syndrome 722002002
- Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome 722114007
- Seckel syndrome 57917004
- Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome 723676007
- Short stature Brussels type 719213009
- Short stature, advanced bone age, early-onset osteoarthritis syndrome 1197586007
- Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome 773625007
- Short-limb skeletal dysplasia with severe combined immunodeficiency 789777007
- SHOX-related short stature 763868006
- Skeletal dysplasia brachydactyly syndrome 733095006
- Skeletal dysplasia with epilepsy and short stature syndrome 715428003
- Spina bifida 67531005
- Spondylodysplastic group 278708009
- Spondyloepiphyseal dysplasia congenita 278713008
- Spondylometaphyseal dysplasia - Sutcliffe type 254078005
- Spondylometaphyseal dysplasia A4 type 782912001
- Spondylometaphyseal dysplasia Czarny Ratajczak type 782820003 removed: 2023-07-31
- Spondylometaphyseal dysplasia Golden type 773304004
- Spondylometaphyseal dysplasia Schmidt type 719304005
- Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome 719205008
- Spondyloperipheral dysplasia 702339001
- Spondyloschisis 30028006
- Sterile multifocal osteomyelitis with periostitis and pustulosis 773702002
- Supernumerary bone of foot 1155640009
- Supernumerary vertebra 87294007
- Talipes varus of left foot 15668201000119106
- Talipes varus of right foot 15668241000119108
- Torg type osteolysis 254152004
- Transitional vertebra 370481004
- Urban Rogers Meyer syndrome 716334004
- Van den Bosch syndrome 733110004
- Velofacioskeletal syndrome 763616002
- Verloove Vanhorick Brubakk syndrome 764697003
- Weill-Marchesani syndrome 2884008
- White forelock with malformations syndrome 763619009
- Winchester syndrome 254151006
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