42725006: Achondrogenesis, type IA (disorder)

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

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

\Finding of general physiological development\Disorder of stature\Short stature disorder (disorder)\Congenital malformation syndromes associated with short stature\Achondrogenesis\Achondrogenesis, type IA

\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Achondrogenesis, type IA
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Achondrogenesis\Achondrogenesis, type IA
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Achondrogenesis, type IA
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Achondrogenesis\Achondrogenesis, type IA
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Achondrogenesis, type IA

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

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, type IA	Is a	Achondrogenesis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Achondrogenesis, type IA	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Achondrogenesis, type IA	Finding site	Both lower extremities	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Achondrogenesis, type IA	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Achondrogenesis, type IA	Finding site	Both upper extremities	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Achondrogenesis, type IA	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Achondrogenesis, type IA	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Achondrogenesis, type IA	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Achondrogenesis, type IA	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Achondrogenesis, type IA	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Achondrogenesis, type IA	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Achondrogenesis, type IA	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Achondrogenesis, type IA	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Achondrogenesis, type IA	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Achondrogenesis, type IA	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Achondrogenesis, type IA	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Achondrogenesis, type IA	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Achondrogenesis, type IA	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Achondrogenesis, type IA	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Achondrogenesis, type IA	Associated morphology	Hypoplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Achondrogenesis, type IA	Finding site	Skeletal system structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Achondrogenesis, type IA	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Achondrogenesis, type IA	Interprets	Height / growth measure (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
71292011	Achondrogenesis, type IA	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
779656011	Achondrogenesis, type IA (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
71292011	Achondrogenesis, type IA	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
779656011	Achondrogenesis, type IA (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3436331001000112	Achondrogenesie Typ 1A	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
938811000172115	achondrogenèse type 1A	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
948541000172119	achondrogenèse type Houston-Harris	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
938811000172115	achondrogenèse type 1A	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
948541000172119	achondrogenèse type Houston-Harris	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3436331001000112	Achondrogenesie Typ 1A	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module