870285004: Pelizaeus-Merzbacher-achtige ziekte door SLC16A2-mutatie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Neurological lesion\Leucodystrophy\Pelizaeus Merzbacher like disease (disorder)\Pelizaeus Merzbacher like disease due to SLC16A2 mutation (disorder)

\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\...

\Leucodystrophy\Pelizaeus Merzbacher like disease (disorder)\Pelizaeus Merzbacher like disease due to SLC16A2 mutation (disorder)

\Hereditary degenerative disease of central nervous system\Pelizaeus Merzbacher like disease (disorder)\Pelizaeus Merzbacher like disease due to SLC16A2 mutation (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Pelizaeus Merzbacher like disease (disorder)\Pelizaeus Merzbacher like disease due to SLC16A2 mutation (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Pelizaeus Merzbacher like disease (disorder)\Pelizaeus Merzbacher like disease due to SLC16A2 mutation (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\Pelizaeus Merzbacher like disease (disorder)\Pelizaeus Merzbacher like disease due to SLC16A2 mutation (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Pelizaeus Merzbacher like disease (disorder)\Pelizaeus Merzbacher like disease due to SLC16A2 mutation (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Pelizaeus Merzbacher like disease (disorder)\Pelizaeus Merzbacher like disease due to SLC16A2 mutation (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Leucodystrophy\Pelizaeus Merzbacher like disease (disorder)\Pelizaeus Merzbacher like disease due to SLC16A2 mutation (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Pelizaeus Merzbacher like disease (disorder)\Pelizaeus Merzbacher like disease due to SLC16A2 mutation (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Leucodystrophy\Pelizaeus Merzbacher like disease (disorder)\Pelizaeus Merzbacher like disease due to SLC16A2 mutation (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Pelizaeus Merzbacher like disease (disorder)\Pelizaeus Merzbacher like disease due to SLC16A2 mutation (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2020. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pelizaeus Merzbacher like disease due to SLC16A2 mutation (disorder)	Is a	Pelizaeus Merzbacher like disease (disorder)	true	Inferred relationship	Some
Pelizaeus Merzbacher like disease due to SLC16A2 mutation (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Pelizaeus Merzbacher like disease due to SLC16A2 mutation (disorder)	Finding site	White matter structure of brain and spinal cord (body structure)	true	Inferred relationship	Some	1
Pelizaeus Merzbacher like disease due to SLC16A2 mutation (disorder)	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Some	2
Pelizaeus Merzbacher like disease due to SLC16A2 mutation (disorder)	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3968811018	Pelizaeus Merzbacher like disease due to SLC16A2 mutation (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3968812013	Pelizaeus Merzbacher like disease due to SLC16A2 mutation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
10746491000146115	Pelizaeus-Merzbacher-achtige ziekte door SLC16A2-mutatie (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10746501000146113	Pelizaeus-Merzbacher-achtige ziekte door SLC16A2-mutatie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)