237513002: Congenital anomaly of bone and joint (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Congenital anomaly of bone and joint
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Congenital anomaly of bone and joint
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint

\Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Congenital anomaly of bone and joint
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Congenital anomaly of bone and joint
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly of bone and joint	Is a	Congenital anomaly of musculoskeletal system	false	Inferred relationship	Some
Congenital anomaly of bone and joint	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of bone and joint	Finding site	Structure of musculoskeletal system (body structure)	false	Inferred relationship	Some	1
Congenital anomaly of bone and joint	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Congenital anomaly of bone and joint	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Congenital anomaly of bone and joint	Associated morphology	kongenital anomali	false	Inferred relationship	Some	2
Congenital anomaly of bone and joint	Finding site	Joint structure	true	Inferred relationship	Some	2
Congenital anomaly of bone and joint	Finding site	Bone structure	true	Inferred relationship	Some	1
Congenital anomaly of bone and joint	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Congenital anomaly of bone and joint	Is a	Congenital anomaly of joint	true	Inferred relationship	Some
Congenital anomaly of bone and joint	Associated morphology	kongenital anomali	false	Inferred relationship	Some	2
Congenital anomaly of bone and joint	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Congenital anomaly of bone and joint	Associated morphology	kongenital anomali	false	Inferred relationship	Some	2
Congenital anomaly of bone and joint	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Congenital anomaly of bone and joint	Associated morphology	kongenital anomali	false	Inferred relationship	Some	2
Congenital anomaly of bone and joint	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Congenital anomaly of bone and joint	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Congenital anomaly of bone and joint	Associated morphology	kongenital anomali	false	Inferred relationship	Some	2
Congenital anomaly of bone and joint	Occurrence	Congenital	false	Inferred relationship	Some	3
Congenital anomaly of bone and joint	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	3
Congenital anomaly of bone and joint	Finding site	Joint structure	false	Inferred relationship	Some	3
Congenital anomaly of bone and joint	Occurrence	Congenital	false	Inferred relationship	Some	4
Congenital anomaly of bone and joint	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	4
Congenital anomaly of bone and joint	Finding site	Bone structure	false	Inferred relationship	Some	4
Congenital anomaly of bone and joint	Occurrence	Congenital	true	Inferred relationship	Some	2
Congenital anomaly of bone and joint	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Congenital anomaly of bone and joint	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Congenital anomaly of bone and joint	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital anomaly of bone and joint	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of bone and joint	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Imperfect fusion of skull	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Trigonocephaly	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Hypermobile Ehlers-Danlos syndrome (disorder)	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
hornhinnefragilitet, keratoglobus, blå senhinna och ledöverrörlighet	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
skafocefali	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Acrocephaly	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Congenital hip dysplasia	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Proximal femoral focal deficiency (disorder)	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Craniosynostosis syndrome	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Congenital fusion of sacroiliac joint	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Congenital absence of patella	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Bifid patella	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
rudimentär patella	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Congenital abnormal fusion of femur	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Congenital dislocation of radial head	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Internasal dysostosis	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Complex craniosynostosis	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Simple craniosynostosis	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Fronto-malar faciosynostosis	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Interfrontal craniofaciosynostosis	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Fibroblast growth factor receptor 3-related craniosynostosis (disorder)	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Interparietal craniosynostosis (disorder)	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Acrocephaly	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Bicoronal craniosynostosis	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Antley-Bixler syndrome	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Baller-Gerold syndrome	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Parieto-occipital craniosynostosis	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Spheno-fronto-parietal craniofaciosynostosis	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Cloverleaf skull syndrome	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Unicoronal craniosynostosis	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Bifid mandibular condyle	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Trigonocephaly	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Congenital fusion of sacroiliac joint	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Congenital hip dysplasia	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Sacralization of fifth lumbar vertebra (disorder)	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Lumbarized first sacral vertebra	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Acrobrachycephaly	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder)	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Cardiocranial syndrome Pfeiffer type (disorder)	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Craniofacial dyssynostosis syndrome (disorder)	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder)	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Capra DeMarco syndrome (disorder)	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Hip dysplasia Beukes type (disorder)	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder)	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Congenital coxa valga	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Congenital coxa vara	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Craniosynostosis fibular aplasia syndrome (disorder)	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Aplasia of trochlea of humerus (disorder)	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Brachydactyly and distal symphalangism syndrome (disorder)	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Congenital absence of right mandibular condyle	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Congenital absence of left mandibular condyle	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder)	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Hallux varus, preaxial polysyndactyly syndrome	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Freeman-Sheldon syndrome	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Stickler syndrome	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Ehlers-Danlos syndrome musculocontractural type (disorder)	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Lethal occipital encephalocele, skeletal dysplasia syndrome (disorder)	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Lunate-triquetrum synostosis	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Madelung's deformity	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder)	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Genu recurvatum and long leg bone bowing	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Craniorhiny (disorder)	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Triphalangeal thumb and dislocation of patella syndrome (disorder)	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Boomerang dysplasia	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Long narrow head	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Occipital encephalocele	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Muenke syndrome	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Distal radioulnar synostosis	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Macular coloboma, cleft palate, hallux valgus syndrome (disorder)	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Craniosynostosis Philadelphia type (disorder)	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Saethre-Chotzen syndrome	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Congenital anomaly of exoccipital bone	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder)	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Scaphoid-lunate synostosis	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Congenital glenoid dysplasia	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Familial scaphocephaly syndrome McGillivray type (disorder)	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder)	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Craniosynostosis, microretrognathia, severe intellectual disability syndrome	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
355955014	Congenital anomaly of bone and joint	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626253013	Congenital anomaly of bone and joint (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3005701000052117	medfödd missbildning av skelettben och led	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)
4854021000052118	medfödd anomali av skelettben och led	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)