Congenital anomaly of musculoskeletal system	Disorder of bone development
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Congenital anomaly of skeletal bone (disorder)
	Congenital anomaly of skeletal bone
	Congenital skeletal anomaly Anomaly of skeletal development Congenital malformation of skeletal bone
	congenitale afwijking van benig skelet
	congenitale malformatie van benig skelet congenitale anomalie van bot congenitale afwijking van pars ossea

Id	8447006
Status	Defined

Associated morphology	Morphologically abnormal structure
Finding site	Bone structure
Occurrence	Congenital
Pathological process	Pathological developmental process

ICD-10 complex map reference set

Target	Q79.9
Rule	TRUE
Advice	ALWAYS Q79.9
Correlation	SNOMED CT source code to target map code correlation not specified

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46,XX disorder of sex development with skeletal anomalies syndrome

Accessory ossification center

Achondrogenesis, type IA

Achondrogenesis, type IB

Acromesomelic dysplasia syndrome16

Angel-shaped phalangoepiphyseal dysplasia

Angio-osteohypertrophic syndrome2

Angioosteohypotrophic syndrome

Atelosteogenesis type 1

Atelosteogenesis type 2

Atelosteogenesis type 3

Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome

Autosomal recessive distal osteolysis syndrome

Autosomal recessive spondylometaphyseal dysplasia Megarbane type

Axial spondylometaphyseal dysplasia

Ballard syndrome

Beals auriculo-osteodysplasia syndrome

Bent bone dysplasia group7

Brachydactyly type A3

Brachydactyly type D

Brachydactyly, mesomelia, intellectual disability, heart defect syndrome

Brachyphalangia6

Butterfly vertebra

Camptodactyly syndrome Guadalajara type 2

Cardiospondylocarpofacial syndrome

Carpal-tarsal osteolysis with nephropathy

Carpotarsal osteochondromatosis

Cerebrofacioarticular syndrome

Cherubism with gingival fibromatosis

Choanal atresia with radial ray hypoplasia

Chondrodysplasia12

Chondrodysplasia punctata11

Chondroectodermal dysplasia1

Cleidorhizomelic syndrome

Colobomatous microphthalmia, rhizomelic dysplasia syndrome

Combined immunodeficiency with faciooculoskeletal anomalies syndrome

Congenital abnormality of skull and face bones20

Congenital absence of skeletal bone37

Congenital anomaly of bone and joint36

Congenital anomaly of bone of shoulder girdle11

Congenital anomaly of carpal bone8

Congenital anomaly of cervical vertebra26

Congenital anomaly of femur13

Congenital anomaly of fetal head bones5

Congenital anomaly of fibula12

Congenital anomaly of humerus10

Congenital anomaly of hyoid bone5

Congenital anomaly of lumbar vertebra29

Congenital anomaly of metacarpal bone10

Congenital anomaly of metatarsal bone9

Congenital anomaly of patella5

Congenital anomaly of pelvic bones12

Congenital anomaly of radius16

Congenital anomaly of rib23

Congenital anomaly of tarsal bone11

Congenital anomaly of thoracic vertebra24

Congenital anomaly of tibia11

Congenital anomaly of ulna15

Congenital bony fusion of phalanges3

Congenital coronal cleft of vertebra

Congenital deformity of bone of forearm6

Congenital dysplasia of bone caused by drug

Congenital exostosis2

Congenital fusion of spine19

Congenital leg bone bowing3

Congenital malformation of sternum9

Congenital negative ulnar variant of wrist

Congenital positive ulnar variant of wrist

Congenital pseudoarthrosis of limb2

Congenital spinal meningocele4

Congenital spondylolisthesis3

Congenital synostosis of lower limb bones9

Congenital valgus ankle

Congenital varus ankle

Connective tissue disorder due to lysyl hydroxylase-3 deficiency

Coxoauricular syndrome

Craniodiaphyseal dysplasia

Craniometaphyseal dysplasia2

Cutis laxa, x-linked

Defects of the tubular (and flat) bones and/or axial skeleton1

Defects of tubular bones and spine1

Delta phalanx of finger

Desbuquois syndrome

Diaphyseal dysplasia

Diastrophic dysplasia

Duplication of lower limb bone4

Dyschondrosteosis and nephritis syndrome

Dysosteosclerosis

Dysostosis multiplex group7

Dysplasia with decreased bone density17

Dysplasia with defective mineralization4

Dysplasias with significant membranous bone involvement2

Dysplastic cortical hyperostosis

Early-onset calcifying leukoencephalopathy, skeletal dysplasia

Ehlers-Danlos syndrome19

Enchondromatosis5

Epilepsy, microcephaly, skeletal dysplasia syndrome

Epiphyseal dysplasia4

Exostosis, anetoderma, brachydactyly type E syndrome

Failure of differentiation of bones of forearm2

Failure of differentiation of bones of lower limb

Familial expansile osteolysis

Femur-fibula-ulna complex

Fibrous dysplasia of bone of wrist

Fountain syndrome

Francois syndrome

Frank-Ter Haar syndrome

Genochondromatosis type 2

Ghosal hematodiaphyseal dysplasia

Global developmental delay, osteopenia, ectodermal defect syndrome

Greig cephalopolysyndactyly syndrome

Hajdu-Cheney syndrome

Hall Riggs syndrome

Hanhart's syndrome

Heart defect and limb shortening syndrome

Hyperphosphatasemia with bone disease

Hypochondroplasia

Hypoplastic chondrodystrophy

Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome

Idiopathic multicentric osteolysis

Incomplete ossification28

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

Juberg Hayward syndrome

Keipert syndrome

Kniest dysplasia

Kniest-Stickler dysplasia

Kozlowski spondylometaphyseal dysplasia

Langer mesomelic dysplasia syndrome

Langer-Giedion syndrome

Larsen syndrome

Larsen-like osseous dysplasia, short stature syndrome

Larsen-like syndrome B3GAT3 type

Leri's pleonosteosis syndrome

Leri-Weill dyschondrosteosis

Lethal Kniest-like syndrome

Lethal Larsen-like syndrome

Lipodystrophy, intellectual disability, deafness syndrome

Longitudinal deficiency of tibia AND/OR fibula1

Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome

Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome

Mammary digital nail syndrome

Mammary digital nail syndrome

Melorheostosis6

Mesomelic dysplasia Kantaputra type

Mesomelic dysplasia of upper limb

Metaphyseal chondrodysplasia16

Metaphyseal dysplasia Braun Tinschert type

Metatropic dysplasia2

Microspherophakia with metaphyseal dysplasia syndrome

Miller syndrome

Multicentric carpotarsal osteolysis syndrome

Multicentric osteolysis nodulosis arthropathy spectrum

Multiple congenital defects of vertebral segmentation

Multiple congenital exostosis of ankle

Multiple congenital exostosis of elbow

Multiple congenital exostosis of foot

Multiple congenital exostosis of hand

Multiple congenital exostosis of hip

Multiple congenital exostosis of knee

Multiple congenital exostosis of lower leg

Multiple congenital exostosis of wrist

Multiple synostosis syndrome

Nathalie syndrome

Neonatal osteosclerotic dysplasia4

Nievergelt's syndrome

Oculoskeletal dysplasia

Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome

Osteocraniostenosis

Osteodysplastic primordial dwarfism4

Osteogenesis imperfecta11

Osteoglophonic dysplasia

Osteopathia striata2

Osteopetrosis10

Osteopoikilosis5

Osteosclerosis3

Osteosclerosis - Stanescu type

Osteosclerosis, developmental delay, craniosynostosis syndrome

Otopalatodigital syndrome spectrum disorder5

Pachydermoperiostosis - familial

Persistent human tail

Postaxial polydactyly, dental, vertebral anomalies syndrome

Prenatal-onset spinal muscular atrophy with congenital bone fractures

Pseudochondroplasia

Pseudodiastrophic dysplasia

Puerto Rican infant hypotonia syndrome

Puerto Rican infant hypotonia syndrome

Pyknoachondrogenesis

Pyle metaphyseal dysplasia

Rhizomelic dysplasia Patterson Lowry type

Rhizomelic syndrome Urbach type

Saldino-Mainzer dysplasia

Scholte syndrome

Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome

Seckel syndrome

Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome

Short stature Brussels type

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

Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome

Short-limb skeletal dysplasia with severe combined immunodeficiency

SHOX-related short stature

Skeletal dysplasia brachydactyly syndrome

Skeletal dysplasia with epilepsy and short stature syndrome

Spondylodysplastic group9

Spondyloepimetaphyseal dysplasia with joint laxity

Spondyloepiphyseal dysplasia congenita16

Spondylometaphyseal dysplasia - Sutcliffe type

Spondylometaphyseal dysplasia A4 type

Spondylometaphyseal dysplasia Czarny Ratajczak type

Spondylometaphyseal dysplasia Golden type

Spondylometaphyseal dysplasia Schmidt type

Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome

Spondyloperipheral dysplasia1

Spondyloschisis

Sterile multifocal osteomyelitis with periostitis and pustulosis

Supernumerary bone of foot3

Supernumerary vertebra4

Torg type osteolysis

Transitional vertebra2

Van den Bosch syndrome

Velofacioskeletal syndrome

Verloove Vanhorick Brubakk syndrome

Weill-Marchesani syndrome

White forelock with malformations syndrome

Winchester syndrome