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16058431000119104: White matter disease (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3431466015 White matter disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3431467012 White matter disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3431466015 White matter disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3431467012 White matter disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5632661000241110 maladie de la substance blanche fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5632661000241110 maladie de la substance blanche fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


11 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
White matter disease (disorder) Is a Demyelinating disease of central nervous system true Inferred relationship Existential restriction modifier (core metadata concept)
White matter disease (disorder) Is a Disorder of brain false Inferred relationship Existential restriction modifier (core metadata concept)
White matter disease (disorder) Associated morphology Demyelination true Inferred relationship Existential restriction modifier (core metadata concept) 1
White matter disease (disorder) Finding site Cerebral white matter structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
White matter disease (disorder) Is a Leukoencephalopathy true Inferred relationship Existential restriction modifier (core metadata concept)
White matter disease (disorder) Is a Cerebral degeneration (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group
Progressive multifocal leukoencephalopathy Is a True White matter disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Subcortical leukoencephalopathy (disorder) Is a True White matter disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Marchiafava-Bignami disease (disorder) Is a True White matter disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
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. Is a False White matter disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
White matter disorder due to nutritional deficiency Is a True White matter disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Marburg acute multiple sclerosis Is a True White matter disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
White matter disease due to microglioma Is a True White matter disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
White matter disease due to anti-phospholipid syndrome (disorder) Is a True White matter disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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