279081001: Dysostosis multiplex group (disorder)

SNOMED CT Concept\constatation clinique\...

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

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Dysostosis multiplex group
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Dysostosis multiplex group
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis multiplex group
\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\Dysostosis multiplex group
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Dysostosis multiplex group
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group
\Disease\trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Dysostosis multiplex group
\Disease\trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\Dysostosis multiplex group
\Disease\trouble métabolique\maladie métabolique de l'os\Dysostosis multiplex group
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Dysostosis multiplex group
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis multiplex group
\Disease\trouble du développement\Developmental hereditary disorder\Dysostosis multiplex group
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group

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

416203012 Dysostosis multiplex group en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

672320018 Dysostosis multiplex group (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
Dysostosis multiplex group	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Dysostosis multiplex group	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Dysostosis multiplex group	est un(e) (attribut)	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Dysostosis multiplex group	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Dysostosis multiplex group	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Dysostosis multiplex group	est un(e) (attribut)	maladie métabolique de l'os	true	Inferred relationship	Some
Dysostosis multiplex group	est un(e) (attribut)	Connective tissue hereditary disorder	false	Inferred relationship	Some
Dysostosis multiplex group	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Dysostosis multiplex group	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Dysostosis multiplex group	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Dysostosis multiplex group	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Dysostosis multiplex group	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Dysostosis multiplex group	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Dysostosis multiplex group	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1
Dysostosis multiplex group	survenue (attribut)	congénital	false	Inferred relationship	Some
Dysostosis multiplex group	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
Dysostosis multiplex group	est un(e) (attribut)	Disorder of lysosomal enzyme	true	Inferred relationship	Some
Dysostosis multiplex group	est un(e) (attribut)	Skeletal dysplasia	true	Inferred relationship	Some
Dysostosis multiplex group	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mucopolysaccharidosis-like plus disease	est un(e) (attribut)	True	Dysostosis multiplex group	Inferred relationship	Some
Combined deficiency of sialidase AND beta galactosidase	est un(e) (attribut)	True	Dysostosis multiplex group	Inferred relationship	Some
aspartylglucosaminurie (trouble)	est un(e) (attribut)	False	Dysostosis multiplex group	Inferred relationship	Some
Fucosidosis	est un(e) (attribut)	False	Dysostosis multiplex group	Inferred relationship	Some
Mannosidosis	est un(e) (attribut)	True	Dysostosis multiplex group	Inferred relationship	Some
I-cell disease	est un(e) (attribut)	True	Dysostosis multiplex group	Inferred relationship	Some
Dysostosis multiplex	est un(e) (attribut)	True	Dysostosis multiplex group	Inferred relationship	Some
GM1 gangliosidosis	est un(e) (attribut)	True	Dysostosis multiplex group	Inferred relationship	Some
Ganglioside sialidase deficiency	est un(e) (attribut)	False	Dysostosis multiplex group	Inferred relationship	Some
Sialic storage disease	est un(e) (attribut)	True	Dysostosis multiplex group	Inferred relationship	Some

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
416203012	Dysostosis multiplex group	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
672320018	Dysostosis multiplex group (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core