24629003: Metaphyseal chondrodysplasia, Jansen type (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\chondrodysplasie métaphysaire type Jansen (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\Metaphyseal chondrodysplasia\chondrodysplasie métaphysaire type Jansen (trouble)

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\chondrodysplasie métaphysaire type Jansen (trouble)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\chondrodysplasie métaphysaire type Jansen (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\Metaphyseal chondrodysplasia\chondrodysplasie métaphysaire type Jansen (trouble)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\chondrodysplasie métaphysaire type Jansen (trouble)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\chondrodysplasie métaphysaire type Jansen (trouble)

\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\chondrodysplasie métaphysaire type Jansen (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\Metaphyseal chondrodysplasia\chondrodysplasie métaphysaire type Jansen (trouble)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\chondrodysplasie métaphysaire type Jansen (trouble)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\chondrodysplasie métaphysaire type Jansen (trouble)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\chondrodysplasie métaphysaire type Jansen (trouble)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Osteochondrodysplasia syndrome\chondrodysplasie métaphysaire type Jansen (trouble)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\chondrodysplasie métaphysaire type Jansen (trouble)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\chondrodysplasie métaphysaire type Jansen (trouble)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\chondrodysplasie métaphysaire type Jansen (trouble)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\chondrodysplasie métaphysaire type Jansen (trouble)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Osteochondrodysplasia syndrome\chondrodysplasie métaphysaire type Jansen (trouble)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\chondrodysplasie métaphysaire type Jansen (trouble)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\chondrodysplasie métaphysaire type Jansen (trouble)
\Disease\trouble du développement\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\chondrodysplasie métaphysaire type Jansen (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
chondrodysplasie métaphysaire type Jansen (trouble)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
chondrodysplasie métaphysaire type Jansen (trouble)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
chondrodysplasie métaphysaire type Jansen (trouble)	interprète (attribut)	Height / growth measure	true	Inferred relationship	Some	2
chondrodysplasie métaphysaire type Jansen (trouble)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
chondrodysplasie métaphysaire type Jansen (trouble)	est un(e) (attribut)	Osteochondrodysplasia syndrome	true	Inferred relationship	Some
chondrodysplasie métaphysaire type Jansen (trouble)	est un(e) (attribut)	Metaphyseal chondrodysplasia	true	Inferred relationship	Some
chondrodysplasie métaphysaire type Jansen (trouble)	morphologie associée (attribut)	Congenital malformation	false	Inferred relationship	Some
chondrodysplasie métaphysaire type Jansen (trouble)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
chondrodysplasie métaphysaire type Jansen (trouble)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
chondrodysplasie métaphysaire type Jansen (trouble)	survenue (attribut)	congénital	false	Inferred relationship	Some	2
chondrodysplasie métaphysaire type Jansen (trouble)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
chondrodysplasie métaphysaire type Jansen (trouble)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
chondrodysplasie métaphysaire type Jansen (trouble)	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1
chondrodysplasie métaphysaire type Jansen (trouble)	survenue (attribut)	congénital	false	Inferred relationship	Some
chondrodysplasie métaphysaire type Jansen (trouble)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
chondrodysplasie métaphysaire type Jansen (trouble)	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
408511000241115	chondrodysplasie métaphysaire type Jansen (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
41287018	Metaphyseal chondrodysplasia, Jansen type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
41288011	Metaphyseal dysostosis, Jansen type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
754287016	Metaphyseal chondrodysplasia, Jansen type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
984431000172114	chondrodysplasie métaphysaire type Jansen	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)