237513002: Congenital anomaly of bone and joint (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

Status: current, Defined. Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

355955014 Congenital anomaly of bone and joint en Synonym Active Case insensitive SNOMED CT core
626253013 Congenital anomaly of bone and joint (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly of bone and joint	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital anomaly of bone and joint	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Congenital anomaly of bone and joint	Pathological process	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	true	Inferred relationship	Some	2
Congenital anomaly of bone and joint	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Congenital anomaly of bone and joint	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Congenital anomaly of bone and joint	Associated morphology	Congenital anomaly	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	Congenital anomaly	false	Inferred relationship	Some	2
Congenital anomaly of bone and joint	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Congenital anomaly of bone and joint	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Congenital anomaly of bone and joint	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Congenital anomaly of bone and joint	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Congenital anomaly of bone and joint	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Congenital anomaly of bone and joint	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Congenital anomaly of bone and joint	Associated morphology	Congenital anomaly	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	Developmental abnormality	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	Developmental abnormality	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	false	Inferred relationship	Some
Congenital anomaly of bone and joint	Finding site	Structure of musculoskeletal system	false	Inferred relationship	Some	1
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	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
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	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Lethal occipital encephalocele, skeletal dysplasia syndrome	Is a	True	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	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	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Say Field Coldwell syndrome	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	False	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	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Macular coloboma, cleft palate, hallux valgus syndrome	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Craniosynostosis Philadelphia type	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	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	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
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
Ehlers-Danlos syndrome, type 3	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Scaphocephaly	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
Developmental hip dysplasia	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Proximal femoral focal deficiency	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
Rudimentary 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	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Scaphocephaly	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
Developmental hip dysplasia	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Sacralisation of fifth lumbar vertebra	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Lumbarised 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 Nishimura type	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Cardiocranial syndrome Pfeiffer type	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Craniofacial dyssynostosis syndrome	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Craniofrontonasal dysplasia with Poland anomaly syndrome	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Hip dysplasia Beukes type	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome	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	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Aplasia of trochlea of humerus	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Sillence syndrome	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	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

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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Id	Description	Lang	Type	Status	Case?	Module
355955014	Congenital anomaly of bone and joint	en	Synonym	Active	Case insensitive	SNOMED CT core
626253013	Congenital anomaly of bone and joint (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core