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447351004: Vanishing white matter disease (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2011. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
161081000087114 LVWM - Leukoencephalopathy with vanishing white matter en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Canada Health Infoway English module (core metadata concept)
161091000087111 Leukoencephalopathy with evanescent white matter en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Canada Health Infoway English module (core metadata concept)
2880283014 Vanishing white matter disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2883499019 Vanishing white matter disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4551991015 Myelinosis centralis diffusa en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4551992010 Childhood ataxia with diffuse central nervous system hypomyelination en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4551993017 CACH (childhood ataxia with diffuse central nervous system hypomyelination) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4551994011 Leucoencephalopathy with vanishing white matter en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4551995012 Leukoencephalopathy with vanishing white matter en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4552001011 Onset of disease between 2 and 5 years of age with characteristics of cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), a recessive autosomal mode of inheritance, neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes. This disease is linked to mutations in the five EIF2B genes encoding the five subunits of the eukaryotic initiation factor 2B (eIF2B), involved in the protein synthesis and its regulation under cellular stress. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Vanishing white matter disease (disorder) morphologie associée (attribut) Myelin sheath alteration true Inferred relationship Some 1
Vanishing white matter disease (disorder) est un(e) (attribut) Hereditary ataxia (disorder) true Inferred relationship Some
Vanishing white matter disease (disorder) est un(e) (attribut) Cerebral degeneration (disorder) true Inferred relationship Some
Vanishing white matter disease (disorder) est un(e) (attribut) Hereditary degenerative disease of central nervous system true Inferred relationship Some
Vanishing white matter disease (disorder) localisation d'une constatation (attribut) Cerebral white matter structure true Inferred relationship Some 2
Vanishing white matter disease (disorder) localisation d'une constatation (attribut) Myelinated nerve fiber structure true Inferred relationship Some 1
Vanishing white matter disease (disorder) est un(e) (attribut) leuco-encéphalopathie true Inferred relationship Some
Vanishing white matter disease (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Vanishing white matter disease (disorder) morphologie associée (attribut) Dystrophy (morphologic abnormality) true Inferred relationship Some 2
Vanishing white matter disease (disorder) est un(e) (attribut) Leukodystrophy true Inferred relationship Some
Vanishing white matter disease (disorder) est un(e) (attribut) Disorder of brain (disorder) false Inferred relationship Some
Vanishing white matter disease (disorder) est un(e) (attribut) Demyelinating disease of central nervous system false Inferred relationship Some
Vanishing white matter disease (disorder) morphologie associée (attribut) Demyelination false Inferred relationship Some 1
Vanishing white matter disease (disorder) localisation d'une constatation (attribut) Cerebral white matter structure false Inferred relationship Some 1
Vanishing white matter disease (disorder) morphologie associée (attribut) Demyelination false Inferred relationship Some 1
Vanishing white matter disease (disorder) localisation d'une constatation (attribut) Cerebral white matter structure false Inferred relationship Some 1
Vanishing white matter disease (disorder) est un(e) (attribut) White matter disease (disorder) false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Ovarioleukodystrophy est un(e) (attribut) True Vanishing white matter disease (disorder) Inferred relationship Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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