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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
5401460010 Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5424391010 Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leucodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
5401460010 Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5424391010 Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leucodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3436491001000116 Pelizaeus-Merzbacher-ähnliche Krankheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6445331000241118 maladie Pelizaeus-Merzbacher-like fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6445341000241111 maladie PML (Pelizaeus-Merzbacher-like) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6445331000241118 maladie Pelizaeus-Merzbacher-like fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6445341000241111 maladie PML (Pelizaeus-Merzbacher-like) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3436491001000116 Pelizaeus-Merzbacher-ähnliche Krankheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4 descendants. Search Descendants:

Expanded Value Set

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

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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