28681006: Metaphyseal chondrodysplasia (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

\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

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

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

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

48019011 Metaphyseal chondrodysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

483944016 Metaphyseal dysostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

759387017 Metaphyseal chondrodysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Metaphyseal chondrodysplasia	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Metaphyseal chondrodysplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Metaphyseal chondrodysplasia	est un(e) (attribut)	Congenital malformation syndromes associated with short stature	true	Inferred relationship	Some
Metaphyseal chondrodysplasia	est un(e) (attribut)	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Metaphyseal chondrodysplasia	interprète (attribut)	Height / growth measure	true	Inferred relationship	Some	2
Metaphyseal chondrodysplasia	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Metaphyseal chondrodysplasia	est un(e) (attribut)	Disorder of bone (disorder)	false	Inferred relationship	Some
Metaphyseal chondrodysplasia	est un(e) (attribut)	Skeletal dysplasia	true	Inferred relationship	Some
Metaphyseal chondrodysplasia	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Metaphyseal chondrodysplasia	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Metaphyseal chondrodysplasia	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Metaphyseal chondrodysplasia	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Metaphyseal chondrodysplasia	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Metaphyseal chondrodysplasia	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1
Metaphyseal chondrodysplasia	survenue (attribut)	congénital	false	Inferred relationship	Some
Metaphyseal chondrodysplasia	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
Metaphyseal chondrodysplasia	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Richieri Costa-da Silva syndrome	est un(e) (attribut)	True	Metaphyseal chondrodysplasia	Inferred relationship	Some
chondrodysplasie métaphysaire type Jansen (trouble)	est un(e) (attribut)	True	Metaphyseal chondrodysplasia	Inferred relationship	Some
chondrodysplasie métaphysaire type Schmid (trouble)	est un(e) (attribut)	True	Metaphyseal chondrodysplasia	Inferred relationship	Some
Acroscyphodysplasia (disorder)	est un(e) (attribut)	True	Metaphyseal chondrodysplasia	Inferred relationship	Some
Metaphyseal chondrodysplasia, Sedaghatian type (disorder)	est un(e) (attribut)	True	Metaphyseal chondrodysplasia	Inferred relationship	Some
Metaphyseal chondrodysplasia, McKusick type	est un(e) (attribut)	True	Metaphyseal chondrodysplasia	Inferred relationship	Some
Shwachman syndrome	est un(e) (attribut)	True	Metaphyseal chondrodysplasia	Inferred relationship	Some
Kozlowski spondylometaphyseal dysplasia	est un(e) (attribut)	False	Metaphyseal chondrodysplasia	Inferred relationship	Some
Ulna metaphyseal dysplasia syndrome (disorder)	est un(e) (attribut)	True	Metaphyseal chondrodysplasia	Inferred relationship	Some
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	est un(e) (attribut)	False	Metaphyseal chondrodysplasia	Inferred relationship	Some
Spondylometaphyseal dysplasia Schmidt type (disorder)	est un(e) (attribut)	False	Metaphyseal chondrodysplasia	Inferred relationship	Some
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome (disorder)	est un(e) (attribut)	True	Metaphyseal chondrodysplasia	Inferred relationship	Some
Hall Riggs syndrome (disorder)	est un(e) (attribut)	False	Metaphyseal chondrodysplasia	Inferred relationship	Some
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder)	est un(e) (attribut)	True	Metaphyseal chondrodysplasia	Inferred relationship	Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	est un(e) (attribut)	True	Metaphyseal chondrodysplasia	Inferred relationship	Some
Spondyloepimetaphyseal disorder	est un(e) (attribut)	True	Metaphyseal chondrodysplasia	Inferred relationship	Some
Spondylometaphyseal dysplasia - Sutcliffe type	est un(e) (attribut)	False	Metaphyseal chondrodysplasia	Inferred relationship	Some
Spondyloenchondrodysplasia	est un(e) (attribut)	True	Metaphyseal chondrodysplasia	Inferred relationship	Some
Metaphyseal chondrodysplasia, Spahr type	est un(e) (attribut)	True	Metaphyseal chondrodysplasia	Inferred relationship	Some
Metaphyseal anadysplasia	est un(e) (attribut)	True	Metaphyseal chondrodysplasia	Inferred relationship	Some
Metaphyseal chondrodysplasia Kaitila type (disorder)	est un(e) (attribut)	True	Metaphyseal chondrodysplasia	Inferred relationship	Some
Axial spondylometaphyseal dysplasia (disorder)	est un(e) (attribut)	False	Metaphyseal chondrodysplasia	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
48019011	Metaphyseal chondrodysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
483944016	Metaphyseal dysostosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
759387017	Metaphyseal chondrodysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core