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717042001: Pelizaeus Merzbacher like disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2016. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3308251012 Pelizaeus Merzbacher like disease (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module
3308252017 Pelizaeus Merzbacher like disease en Synonym Active Entire term case sensitive SNOMED CT core module
3308253010 PMLD - Pelizaeus Merzbacher like disease en Synonym Active Entire term case sensitive SNOMED CT core module

4 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Pelizaeus Merzbacher like disease Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Pelizaeus Merzbacher like disease Is a Leukodystrophy true Inferred relationship Existential restriction modifier
Pelizaeus Merzbacher like disease Associated morphology Dystrophy false Inferred relationship Existential restriction modifier 1
Pelizaeus Merzbacher like disease Associated morphology Myelin sheath alteration true Inferred relationship Existential restriction modifier 1
Pelizaeus Merzbacher like disease Finding site Structure of nervous system false Inferred relationship Existential restriction modifier 1
Pelizaeus Merzbacher like disease Finding site Myelinated nerve fiber structure true Inferred relationship Existential restriction modifier 1
Pelizaeus Merzbacher like disease Associated morphology Dystrophy true Inferred relationship Existential restriction modifier 2
Pelizaeus Merzbacher like disease Is a Hereditary disorder of nervous system false Inferred relationship Existential restriction modifier
Pelizaeus Merzbacher like disease Finding site White matter structure of brain and spinal cord true Inferred relationship Existential restriction modifier 2
Pelizaeus Merzbacher like disease Is a Hereditary degenerative disease of central nervous system true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Pelizaeus Merzbacher like disease due to HSPD1 mutation Is a True Pelizaeus Merzbacher like disease Inferred relationship Existential restriction modifier
Pelizaeus Merzbacher like disease due to SLC16A2 mutation Is a True Pelizaeus Merzbacher like disease Inferred relationship Existential restriction modifier
Pelizaeus Merzbacher like disease due to AIMP1 mutation Is a True Pelizaeus Merzbacher like disease Inferred relationship Existential restriction modifier
Pelizaeus Merzbacher like disease due to GJC2 mutation Is a True Pelizaeus Merzbacher like disease Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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