Congenital anomaly of skeletal bone   8447006

SNOMED CT code


SNOMED code8447006
nameCongenital anomaly of skeletal bone
statusactive
date introduced2002-01-31
fully specified name(s)Congenital anomaly of skeletal bone (disorder)
synonyms
  • Congenital anomaly of skeletal bone
  • Congenital skeletal anomaly
  • Anomaly of skeletal development
  • Congenital malformation of skeletal bone
attributes - group1
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteBone structure   272673000
parents
  • Disorder of bone development   371521007
  • Congenital anomaly of musculoskeletal system   73573004
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
  • Aniridia and absent patella syndrome   720467005
  • Aplasia of patella   737219008
  • Atelosteogenesis type 1   725141006
  • Atelosteogenesis type 2   254055004
  • Atelosteogenesis type 3   725142004
  • Autosomal recessive distal osteolysis syndrome   715487005
  • Autosomal recessive spondylometaphyseal dysplasia Megarbane type   782782004
  • Axial spondylometaphyseal dysplasia   771301002
  • Ballard syndrome   722298001
  • Beals auriculo-osteodysplasia syndrome   50123005
  • Bent bone dysplasia group   278832007
  • Bifid patella   79214007
  • Brachydactyly, mesomelia, intellectual disability, heart defect syndrome   765761009
  • Brachyphalangia   38998004
  • Brachyrachia (short spine dysplasia)   254087001
  • 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
  • Cleidorhizomelic syndrome   719471002
  • Colobomatous microphthalmia, rhizomelic dysplasia syndrome   764942005
  • 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 ossicles of ear   75311005
  • Congenital absence of skeletal bone   127328006
  • Congenital absence of vertebra   15843004
  • Congenital anomaly of bone and joint   237513002
  • Congenital anomaly of bone of shoulder girdle   726116007
  • Congenital anomaly of carpal bone   123570003
  • Congenital anomaly of caudal vertebra   92998007
  • 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 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 exostosis   268276007
  • Congenital fusion of spine   38827001
  • Congenital hemivertebra   68359008
  • Congenital hypoplasia of patella   724071009
  • 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
  • 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
  • DOORS syndrome   719800009
  • Duplication of lower limb bone   205368001
  • Dyschondrosteosis and nephritis syndrome   722433005
  • 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
  • Ectromelia   43036001
  • 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 expansile osteolysis   254153009
  • Fibrous dysplasia of bone   10623005
  • Fountain syndrome   720957007
  • Francois syndrome   254150007
  • Frank-Ter Haar syndrome   720958002
  • Genochondromatosis type 2   725904009
  • 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
  • Holoprosencephaly with caudal dysgenesis syndrome   771146007
  • Hydromeningocele   25129008
  • Hydromyelocele   38116000
  • Hyperphalangy   763535005
  • Hyperphosphatasemia with bone disease   9723006
  • Hypochondroplasia   205468002
  • Hypoplasia of sacrum   737216001
  • 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-Stickler dysplasia group   278712003
  • Kousseff syndrome   726083008
  • Kozlowski spondylometaphyseal dysplasia   111304003
  • Lack of ossification of forepaw phalanx   93097006  removed: 2014-01-31
  • Langer mesomelic dysplasia syndrome   38494008
  • 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
  • Leri-Weill dyschondrosteosis   17818006
  • Lethal Larsen-like syndrome   719409004
  • Lipodystrophy, intellectual disability, deafness syndrome   721973006
  • Lipomyelomeningocele   104431000119107
  • 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 Kantaputra type   719397009
  • Metaphyseal chondrodysplasia   28681006
  • Metaphyseal dysplasia Braun Tinschert type   717221005
  • Metatropic dysplasia   22764001
  • Microcephalus with brachydactyly and kyphoscoliosis syndrome   719378009
  • Microspherophakia with metaphyseal dysplasia syndrome   724140002
  • Miller syndrome   66038001
  • Multicentric carpotarsal osteolysis syndrome   766992008
  • Multicentric osteolysis nodulosis arthropathy spectrum   716868003
  • Multiple congenital exostosis   254044004
  • Multiple synostosis syndrome   62628008
  • Nathalie syndrome   716170005
  • Neonatal osteosclerotic dysplasia   389236000
  • Nievergelt's syndrome   33979003
  • Oculoskeletal dysplasia   699381006
  • Omodysplasia   725164008
  • Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome   722108000
  • Osteocraniostenosis   722109008
  • Osteodysplastic primordial dwarfism   254101001
  • Osteogenesis imperfecta   78314001
  • Osteopathia striata   82663009
  • Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome   722111004
  • Osteopetrosis   1926006
  • Osteopoikilosis   9147009
  • Osteosclerosis   49347007
  • Osteosclerosis - Stanescu type   254124008
  • Osteosclerosis, developmental delay, craniosynostosis syndrome   722117000
  • Otopalatodigital syndrome spectrum disorder   784010006
  • Pachydermoperiostosis - familial   254133005
  • Patella dysplasia   389276005
  • Persistent human tail   89497006
  • Platyspondylia   7603007
  • Postaxial polydactyly, dental, vertebral anomalies syndrome   773279006
  • Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome   724064004
  • Pseudochondroplasia   254142003
  • Pseudodiastrophic dysplasia   254058002
  • Puerto Rican infant hypotonia syndrome   721887007
  • Pyknoachondrogenesis   719258003
  • Pyle metaphyseal dysplasia   27837003
  • Rhizomelic dysplasia Patterson Lowry type   715505002
  • Rhizomelic syndrome Urbach type   770948004
  • RHYNS syndrome   723999009
  • Robinow syndrome   76520005
  • 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 rib dysplasia group (with or without polydactyly)   278710006
  • Short stature Brussels type   719213009
  • Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome   773625007
  • 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
  • Spondyloepimetaphyseal dysplasia with joint laxity   254100000
  • Spondyloepiphyseal dysplasia congenita   278713008
  • Spondylometaphyseal dysplasia - Sutcliffe type   254078005
  • Spondylometaphyseal dysplasia A4 type   782912001
  • Spondylometaphyseal dysplasia Czarny Ratajczak type   782820003
  • Spondylometaphyseal dysplasia Golden type   773304004
  • Spondylometaphyseal dysplasia Schmidt type   719304005
  • Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome   719205008
  • Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome   782913006
  • Spondyloperipheral dysplasia   702339001
  • Spondyloschisis   30028006
  • Sterile multifocal osteomyelitis with periostitis and pustulosis   773702002
  • Supernumerary vertebra   87294007
  • Torg type osteolysis   254152004
  • Transitional vertebra   370481004
  • Van den Bosch syndrome   733110004
  • Velofacioskeletal syndrome   763616002
  • Verloove Vanhorick Brubakk syndrome   764697003
  • Weill-Marchesani syndrome   2884008
  • Weissenbacher-Zweymuller syndrome   699313003
  • White forelock with malformations syndrome   763619009
  • Winchester syndrome   254151006
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital anomaly of musculoskeletal system   73573004
            Congenital anomaly of skeletal bone   8447006

ancestors
sorted most to least specific
cpt crosswalks

Rules-based maps relating CPT® codes to and from SNOMED CT® clinical concepts.  Forward and backward mapping allows for easy transition between code sets. Map-A-Code crosswalk tool easily crosswalks multiple codes between the code sets.

Access to this feature is available in the following products:
  • CPT® to SNOMED Crosswalks

demo
request yours today
subscribe
start today
newsletter
free subscription

Thank you for choosing Find-A-Code, please Sign In to remove ads.