254061001: Achondrogenesis, type II (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)\Achondrogenesis, type II

\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)\Achondrogenesis, type II

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

378208011 Achondrogenesis, type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

378209015 Langer-Saldino dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

378210013 Langer-Saldino achondrogenesis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

644901016 Achondrogenesis, type II (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Achondrogenesis, type II	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Achondrogenesis, type II	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Achondrogenesis, type II	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Achondrogenesis, type II	morphologie associée (attribut)	Hypoplasia (morphologic abnormality)	true	Inferred relationship	Some	1
Achondrogenesis, type II	interprète (attribut)	Height / growth measure	true	Inferred relationship	Some	3
Achondrogenesis, type II	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Achondrogenesis, type II	est un(e) (attribut)	achondrogenèse (trouble)	true	Inferred relationship	Some
Achondrogenesis, type II	localisation d'une constatation (attribut)	Both lower extremities (body structure)	false	Inferred relationship	Some
Achondrogenesis, type II	localisation d'une constatation (attribut)	Both upper extremities	false	Inferred relationship	Some
Achondrogenesis, type II	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Achondrogenesis, type II	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Achondrogenesis, type II	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Achondrogenesis, type II	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	2
Achondrogenesis, type II	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	2
Achondrogenesis, type II	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Achondrogenesis, type II	survenue (attribut)	congénital	false	Inferred relationship	Some	3
Achondrogenesis, type II	morphologie associée (attribut)	Congenital hypoplasia	false	Inferred relationship	Some	3
Achondrogenesis, type II	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	3
Achondrogenesis, type II	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
Achondrogenesis, type II	morphologie associée (attribut)	dysplasie	false	Inferred relationship	Some	1
Achondrogenesis, type II	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1
Achondrogenesis, type II	survenue (attribut)	congénital	false	Inferred relationship	Some
Achondrogenesis, type II	est un(e) (attribut)	Spondyloepiphyseal dysplasia congenita	true	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
378208011	Achondrogenesis, type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
378209015	Langer-Saldino dysplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
378210013	Langer-Saldino achondrogenesis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
644901016	Achondrogenesis, type II (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core