Code System Concept

Code System Concept

Code System Concept Code	447351004
Code System Concept Name	Vanishing white matter disease (disorder)
Code System Preferred Concept Name	Vanishing white matter disease (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	01/31/2011
SDO Date Created	01/31/2011
SDO Date Revised	01/31/2011
Description	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.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
2883499019	Vanishing white matter disease	Active	Synonym	false	false
4551991015	Myelinosis centralis diffusa	Active	Synonym	false	false
4551992010	Childhood ataxia with diffuse central nervous system hypomyelination	Active	Synonym	false	false
4551993017	CACH (childhood ataxia with diffuse central nervous system hypomyelination) syndrome	Active	Synonym	false	false
4551994011	Leucoencephalopathy with vanishing white matter	Active	Synonym	false	false
4551995012	Leukoencephalopathy with vanishing white matter	Active	Synonym	false	false

Associated Value Sets

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Other Relationships

No other relationships present.

Child Concepts

Vanishing white matter disease (disorder) {447351004 , SNOMED-CT }

Parent/Child (Relationship Type)

Ovarioleukodystrophy (disorder) {1156768008 , SNOMED-CT }