8447006: congenitale afwijking van benig skelet (aandoening)

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

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

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone
\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
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly of skeletal bone	Is a	Congenital anomaly of musculoskeletal system	true	Inferred relationship	Some
Congenital anomaly of skeletal bone	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of skeletal bone	Finding site	Bone structure	false	Inferred relationship	Some	1
Congenital anomaly of skeletal bone	Is a	Disorder of bone (disorder)	false	Inferred relationship	Some
Congenital anomaly of skeletal bone	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Congenital anomaly of skeletal bone	Is a	Congenital connective tissue disorder	false	Inferred relationship	Some
Congenital anomaly of skeletal bone	Is a	Disorder of bone development (disorder)	true	Inferred relationship	Some
Congenital anomaly of skeletal bone	Finding site	Bone structure	false	Inferred relationship	Some	1
Congenital anomaly of skeletal bone	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Congenital anomaly of skeletal bone	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of skeletal bone	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
Congenital anomaly of skeletal bone	Finding site	Bone structure	false	Inferred relationship	Some	2
Congenital anomaly of skeletal bone	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of skeletal bone	Finding site	Bone structure	true	Inferred relationship	Some	1
Congenital anomaly of skeletal bone	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Congenital anomaly of skeletal bone	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder)	Is a	True	Congenital anomaly of skeletal bone	Inferred relationship	Some
Congenital lordosis deformity of spine due to congenital malformation of skeletal bone (disorder)	Due to	True	Congenital anomaly of skeletal bone	Inferred relationship	Some	2
Short stature, advanced bone age, early-onset osteoarthritis syndrome	Is a	True	Congenital anomaly of skeletal bone	Inferred relationship	Some
Early-onset calcifying leucoencephalopathy, skeletal dysplasia	Is a	True	Congenital anomaly of skeletal bone	Inferred relationship	Some
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder)	Is a	False	Congenital anomaly of skeletal bone	Inferred relationship	Some
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder)	Is a	True	Congenital anomaly of skeletal bone	Inferred relationship	Some
Congenital vertebral, cardiac, renal anomalies syndrome (disorder)	Is a	True	Congenital anomaly of skeletal bone	Inferred relationship	Some
Rhizomelic dysplasia (disorder)	Is a	True	Congenital anomaly of skeletal bone	Inferred relationship	Some
Mesomelic dysplasia	Is a	True	Congenital anomaly of skeletal bone	Inferred relationship	Some
Familial articular hypermobility syndrome (disorder)	Is a	True	Congenital anomaly of skeletal bone	Inferred relationship	Some
Congenital bowing of long bone (disorder)	Is a	True	Congenital anomaly of skeletal bone	Inferred relationship	Some
Congenital malformation of bone of thorax (disorder)	Is a	True	Congenital anomaly of skeletal bone	Inferred relationship	Some
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)	Is a	True	Congenital anomaly of skeletal bone	Inferred relationship	Some
Congenital spondylolysis (disorder)	Is a	True	Congenital anomaly of skeletal bone	Inferred relationship	Some
Femur-fibula-ulna complex (disorder)	Is a	True	Congenital anomaly of skeletal bone	Inferred relationship	Some
Fibrous dysplasia of bone of wrist (disorder)	Is a	True	Congenital anomaly of skeletal bone	Inferred relationship	Some
Multiple congenital exostosis of hip (disorder)	Is a	True	Congenital anomaly of skeletal bone	Inferred relationship	Some
Multiple congenital exostosis of lower leg (disorder)	Is a	True	Congenital anomaly of skeletal bone	Inferred relationship	Some
Multiple congenital exostosis of hand (disorder)	Is a	True	Congenital anomaly of skeletal bone	Inferred relationship	Some
Multiple congenital exostosis of wrist (disorder)	Is a	True	Congenital anomaly of skeletal bone	Inferred relationship	Some
Multiple congenital exostosis of ankle (disorder)	Is a	True	Congenital anomaly of skeletal bone	Inferred relationship	Some
Multiple congenital exostosis of knee (disorder)	Is a	True	Congenital anomaly of skeletal bone	Inferred relationship	Some
Multiple congenital exostosis of foot (disorder)	Is a	True	Congenital anomaly of skeletal bone	Inferred relationship	Some
Multiple congenital exostosis of elbow (disorder)	Is a	True	Congenital anomaly of skeletal bone	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
14942016	Congenital anomaly of skeletal bone	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
14945019	Congenital skeletal anomaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
14946018	Anomaly of skeletal development	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
826321016	Congenital anomaly of skeletal bone (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3006510017	Congenital malformation of skeletal bone	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1451971000146117	congenitale anomalie van bot	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2544771000146114	congenitale afwijking van benig skelet (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2544781000146111	congenitale afwijking van benig skelet	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2544791000146113	congenitale malformatie van benig skelet	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2544801000146112	congenitale afwijking van pars ossea	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)