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2391001: achondrogenesie (aandoening)

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

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Achondrogenesis

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Achondrogenesis

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Disorder of skeletal system\Skeletal dysplasia\Achondrogenesis

\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Achondrogenesis

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Achondrogenesis
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Achondrogenesis
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Achondrogenesis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Achondrogenesis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Achondrogenesis
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Achondrogenesis
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Achondrogenesis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Achondrogenesis
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Achondrogenesis

Status: current, Not 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
Achondrogenesis	Is a	Skeletal dysplasia	true	Inferred relationship	Some
Achondrogenesis	Finding site	Bone structure	false	Inferred relationship	Some	1
Achondrogenesis	Finding site	Both lower extremities	false	Inferred relationship	Some
Achondrogenesis	Occurrence	Congenital	false	Inferred relationship	Some
Achondrogenesis	Finding site	Both upper extremities	false	Inferred relationship	Some
Achondrogenesis	Is a	Disorder of upper limb (disorder)	false	Inferred relationship	Some
Achondrogenesis	Is a	Disorder of lower limb	false	Inferred relationship	Some
Achondrogenesis	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Achondrogenesis	Finding site	Skeletal system structure	true	Inferred relationship	Some	1
Achondrogenesis	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Achondrogenesis	Finding site	Bone structure	false	Inferred relationship	Some	1
Achondrogenesis	Occurrence	Congenital	true	Inferred relationship	Some	2
Achondrogenesis	Finding site	Bone structure	false	Inferred relationship	Some	2
Achondrogenesis	Is a	Short stature disorder	false	Inferred relationship	Some
Achondrogenesis	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	2
Achondrogenesis	Occurrence	Congenital	false	Inferred relationship	Some	3
Achondrogenesis	Associated morphology	congenitale hypoplasie (afwijkende morfologie)	false	Inferred relationship	Some	3
Achondrogenesis	Finding site	Bone structure	false	Inferred relationship	Some	3
Achondrogenesis	Occurrence	Congenital	true	Inferred relationship	Some	1
Achondrogenesis	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Achondrogenesis	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Achondrogenesis	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Achondrogenesis	Is a	Congenital anomaly of skeletal bone	false	Inferred relationship	Some
Achondrogenesis	Associated morphology	Hypoplasia	true	Inferred relationship	Some	2
Achondrogenesis	Is a	Congenital malformation syndromes associated with short stature	true	Inferred relationship	Some
Achondrogenesis	Finding site	Skeletal system structure	true	Inferred relationship	Some	2
Achondrogenesis	Interprets	Height / growth measure	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Achondrogenesis, type IB	Is a	True	Achondrogenesis	Inferred relationship	Some
Achondrogenesis, type IA	Is a	True	Achondrogenesis	Inferred relationship	Some
Camptomelic dysplasia	Is a	True	Achondrogenesis	Inferred relationship	Some
Jeune thoracic dystrophy (disorder)	Is a	False	Achondrogenesis	Inferred relationship	Some
Achondroplasia	Is a	True	Achondrogenesis	Inferred relationship	Some
Achondrogenesis, type II (disorder)	Is a	True	Achondrogenesis	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
5094011	Achondrogenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
753487013	Achondrogenesis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
337131000146119	achondrogenese	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13183431000146110	achondrogenesie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13183441000146119	achondrogenesie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)