42725006: Achondrogenesis, type IA (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\achondrogenèse (trouble)\achondrogenèse type 1A (trouble)

\constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\achondrogenèse (trouble)\achondrogenèse type 1A (trouble)

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\achondrogenèse type 1A (trouble)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\achondrogenèse (trouble)\achondrogenèse type 1A (trouble)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\achondrogenèse type 1A (trouble)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\achondrogenèse (trouble)\achondrogenèse type 1A (trouble)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\achondrogenèse type 1A (trouble)

\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\achondrogenèse (trouble)\achondrogenèse type 1A (trouble)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\achondrogenèse type 1A (trouble)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\achondrogenèse (trouble)\achondrogenèse type 1A (trouble)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\achondrogenèse type 1A (trouble)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\achondrogenèse (trouble)\achondrogenèse type 1A (trouble)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\achondrogenèse (trouble)\achondrogenèse type 1A (trouble)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\achondrogenèse type 1A (trouble)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\achondrogenèse type 1A (trouble)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\achondrogenèse (trouble)\achondrogenèse type 1A (trouble)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\achondrogenèse (trouble)\achondrogenèse type 1A (trouble)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\achondrogenèse type 1A (trouble)
\Disease\trouble du développement\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\achondrogenèse (trouble)\achondrogenèse type 1A (trouble)

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
achondrogenèse type 1A (trouble)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
achondrogenèse type 1A (trouble)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
achondrogenèse type 1A (trouble)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
achondrogenèse type 1A (trouble)	morphologie associée (attribut)	Hypoplasia (morphologic abnormality)	true	Inferred relationship	Some	1
achondrogenèse type 1A (trouble)	localisation d'une constatation (attribut)	Skeletal system structure	true	Inferred relationship	Some	2
achondrogenèse type 1A (trouble)	est un(e) (attribut)	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
achondrogenèse type 1A (trouble)	interprète (attribut)	Height / growth measure	true	Inferred relationship	Some	3
achondrogenèse type 1A (trouble)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
achondrogenèse type 1A (trouble)	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1
achondrogenèse type 1A (trouble)	est un(e) (attribut)	achondrogenèse (trouble)	true	Inferred relationship	Some
achondrogenèse type 1A (trouble)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
achondrogenèse type 1A (trouble)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
achondrogenèse type 1A (trouble)	survenue (attribut)	congénital	true	Inferred relationship	Some	2
achondrogenèse type 1A (trouble)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	2
achondrogenèse type 1A (trouble)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
achondrogenèse type 1A (trouble)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
achondrogenèse type 1A (trouble)	survenue (attribut)	congénital	false	Inferred relationship	Some	3
achondrogenèse type 1A (trouble)	morphologie associée (attribut)	Congenital hypoplasia	false	Inferred relationship	Some	3
achondrogenèse type 1A (trouble)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	3
achondrogenèse type 1A (trouble)	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
achondrogenèse type 1A (trouble)	localisation d'une constatation (attribut)	Both lower extremities (body structure)	false	Inferred relationship	Some
achondrogenèse type 1A (trouble)	survenue (attribut)	congénital	false	Inferred relationship	Some
achondrogenèse type 1A (trouble)	localisation d'une constatation (attribut)	Both upper extremities	false	Inferred relationship	Some

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
428351000241116	achondrogenèse type 1A (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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
938811000172115	achondrogenèse type 1A	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
948541000172119	achondrogenèse type Houston-Harris	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)