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2391001: Achondrogenesis (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)

\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)

\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...

\Disorder of skeletal system\Skeletal dysplasia\achondrogenèse (trouble)

\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\achondrogenèse (trouble)

\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\achondrogenèse (trouble)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\achondrogenèse (trouble)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\achondrogenèse (trouble)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\achondrogenèse (trouble)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\achondrogenèse (trouble)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\achondrogenèse (trouble)
\Disease\trouble du développement\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\achondrogenèse (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 (trouble)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
achondrogenèse (trouble)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
achondrogenèse (trouble)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
achondrogenèse (trouble)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
achondrogenèse (trouble)	est un(e) (attribut)	Congenital anomaly of skeletal bone	false	Inferred relationship	Some
achondrogenèse (trouble)	morphologie associée (attribut)	Hypoplasia (morphologic abnormality)	true	Inferred relationship	Some	2
achondrogenèse (trouble)	est un(e) (attribut)	Congenital malformation syndromes associated with short stature	true	Inferred relationship	Some
achondrogenèse (trouble)	localisation d'une constatation (attribut)	Skeletal system structure	true	Inferred relationship	Some	2
achondrogenèse (trouble)	interprète (attribut)	Height / growth measure	true	Inferred relationship	Some	3
achondrogenèse (trouble)	est un(e) (attribut)	Disorder of upper extremity (disorder)	false	Inferred relationship	Some
achondrogenèse (trouble)	est un(e) (attribut)	Disorder of lower extremity (disorder)	false	Inferred relationship	Some
achondrogenèse (trouble)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
achondrogenèse (trouble)	localisation d'une constatation (attribut)	Skeletal system structure	true	Inferred relationship	Some	1
achondrogenèse (trouble)	est un(e) (attribut)	Skeletal dysplasia	true	Inferred relationship	Some
achondrogenèse (trouble)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
achondrogenèse (trouble)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
achondrogenèse (trouble)	survenue (attribut)	congénital	true	Inferred relationship	Some	2
achondrogenèse (trouble)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
achondrogenèse (trouble)	est un(e) (attribut)	insuffisance staturale	false	Inferred relationship	Some
achondrogenèse (trouble)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
achondrogenèse (trouble)	survenue (attribut)	congénital	false	Inferred relationship	Some	3
achondrogenèse (trouble)	morphologie associée (attribut)	Congenital hypoplasia	false	Inferred relationship	Some	3
achondrogenèse (trouble)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	3
achondrogenèse (trouble)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
achondrogenèse (trouble)	localisation d'une constatation (attribut)	Both lower extremities (body structure)	false	Inferred relationship	Some
achondrogenèse (trouble)	survenue (attribut)	congénital	false	Inferred relationship	Some
achondrogenèse (trouble)	localisation d'une constatation (attribut)	Both upper extremities	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Achondrogenesis, type IB	est un(e) (attribut)	True	achondrogenèse (trouble)	Inferred relationship	Some
Achondrogenesis, type II	est un(e) (attribut)	True	achondrogenèse (trouble)	Inferred relationship	Some
achondrogenèse type 1A (trouble)	est un(e) (attribut)	True	achondrogenèse (trouble)	Inferred relationship	Some
Camptomelic dysplasia	est un(e) (attribut)	True	achondrogenèse (trouble)	Inferred relationship	Some
dystrophie thoracique asphyxiante	est un(e) (attribut)	False	achondrogenèse (trouble)	Inferred relationship	Some
Achondroplasia	est un(e) (attribut)	True	achondrogenèse (trouble)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
384381000241117	achondrogenèse (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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
984991000172117	achondrogenèse	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)