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717042001: Pelizaeus Merzbacher like disease (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3308251012 Pelizaeus Merzbacher like disease (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3308252017 Pelizaeus Merzbacher like disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3308253010 PMLD - Pelizaeus Merzbacher like disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3308254016 An autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease. Prevalence is unknown. It is characterized by early-onset nystagmus, delayed motor milestones, progressive spasticity, ataxia, and diffuse leukodystrophy on magnetic resonance imaging. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3308255015 An autosomal recessive leucodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease. Prevalence is unknown. It is characterised by early-onset nystagmus, delayed motor milestones, progressive spasticity, ataxia, and diffuse leucodystrophy on magnetic resonance imaging. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


4 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Pelizaeus Merzbacher like disease (disorder) est un(e) (attribut) Hereditary degenerative disease of central nervous system true Inferred relationship Some
Pelizaeus Merzbacher like disease (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Pelizaeus Merzbacher like disease (disorder) est un(e) (attribut) Leukodystrophy true Inferred relationship Some
Pelizaeus Merzbacher like disease (disorder) morphologie associée (attribut) Dystrophy (morphologic abnormality) false Inferred relationship Some 1
Pelizaeus Merzbacher like disease (disorder) morphologie associée (attribut) Myelin sheath alteration true Inferred relationship Some 1
Pelizaeus Merzbacher like disease (disorder) localisation d'une constatation (attribut) système nerveux false Inferred relationship Some 1
Pelizaeus Merzbacher like disease (disorder) localisation d'une constatation (attribut) Myelinated nerve fiber structure true Inferred relationship Some 1
Pelizaeus Merzbacher like disease (disorder) morphologie associée (attribut) Dystrophy (morphologic abnormality) true Inferred relationship Some 2
Pelizaeus Merzbacher like disease (disorder) est un(e) (attribut) Hereditary disorder of nervous system false Inferred relationship Some
Pelizaeus Merzbacher like disease (disorder) localisation d'une constatation (attribut) White matter structure of brain and spinal cord (body structure) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group
Pelizaeus Merzbacher like disease due to HSPD1 mutation est un(e) (attribut) True Pelizaeus Merzbacher like disease (disorder) Inferred relationship Some
Pelizaeus Merzbacher like disease due to SLC16A2 mutation (disorder) est un(e) (attribut) True Pelizaeus Merzbacher like disease (disorder) Inferred relationship Some
Pelizaeus Merzbacher like disease due to AIMP1 mutation (disorder) est un(e) (attribut) True Pelizaeus Merzbacher like disease (disorder) Inferred relationship Some
Pelizaeus Merzbacher like disease due to GJC2 mutation (disorder) est un(e) (attribut) True Pelizaeus Merzbacher like disease (disorder) Inferred relationship Some

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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