870287007: Pelizaeus Merzbacher like disease due to GJC2 mutation (disorder)

SNOMED CT Concept\Clinical finding\...

\Neurological lesion\Leukodystrophy\Pelizaeus Merzbacher like disease\Pelizaeus Merzbacher like disease due to GJC2 mutation

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

\Leukodystrophy\Pelizaeus Merzbacher like disease\Pelizaeus Merzbacher like disease due to GJC2 mutation

\Hereditary degenerative disease of central nervous system\Pelizaeus Merzbacher like disease\Pelizaeus Merzbacher like disease due to GJC2 mutation

\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\Pelizaeus Merzbacher like disease due to GJC2 mutation
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Pelizaeus Merzbacher like disease\Pelizaeus Merzbacher like disease due to GJC2 mutation
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leukodystrophy\Pelizaeus Merzbacher like disease\Pelizaeus Merzbacher like disease due to GJC2 mutation
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Pelizaeus Merzbacher like disease\Pelizaeus Merzbacher like disease due to GJC2 mutation
\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\Pelizaeus Merzbacher like disease due to GJC2 mutation
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Leukodystrophy\Pelizaeus Merzbacher like disease\Pelizaeus Merzbacher like disease due to GJC2 mutation
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Pelizaeus Merzbacher like disease\Pelizaeus Merzbacher like disease due to GJC2 mutation
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Leukodystrophy\Pelizaeus Merzbacher like disease\Pelizaeus Merzbacher like disease due to GJC2 mutation
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Pelizaeus Merzbacher like disease\Pelizaeus Merzbacher like disease due to GJC2 mutation

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

Descriptions:

Id Description Lang Type Status Case? Module

3968815010 Pelizaeus Merzbacher like disease due to GJC2 mutation (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3968816011 Pelizaeus Merzbacher like disease due to GJC2 mutation en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pelizaeus Merzbacher like disease due to GJC2 mutation	Is a	Pelizaeus Merzbacher like disease	true	Inferred relationship	Existential restriction modifier
Pelizaeus Merzbacher like disease due to GJC2 mutation	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier	1
Pelizaeus Merzbacher like disease due to GJC2 mutation	Finding site	White matter structure of brain and spinal cord	true	Inferred relationship	Existential restriction modifier	1
Pelizaeus Merzbacher like disease due to GJC2 mutation	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Existential restriction modifier	2
Pelizaeus Merzbacher like disease due to GJC2 mutation	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Existential restriction modifier	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
3968815010	Pelizaeus Merzbacher like disease due to GJC2 mutation (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3968816011	Pelizaeus Merzbacher like disease due to GJC2 mutation	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module