447351004: Vanishing white matter disease (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Neurological lesion\Leucodystrophy\Vanishing white matter disease
• \Finding related to coordination / incoordination\Ataxia\Hereditary ataxia\Vanishing white matter disease
• \Central nervous system finding\Finding of brain\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Vanishing white matter disease
• \Central nervous system finding\Finding of brain\Encephalopathy\Leukoencephalopathy\Vanishing white matter disease
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Vanishing white matter disease
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Leukoencephalopathy\Vanishing white matter disease
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Leucodystrophy\Vanishing white matter disease
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Vanishing white matter disease
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Vanishing white matter disease
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\...
• \Degenerative brain disorder\Cerebral degeneration\Vanishing white matter disease
• \Leukoencephalopathy\Vanishing white matter disease
• \Finding of head region\Leukoencephalopathy\Vanishing white matter disease
• \Disorder of head\Encephalopathy\...
• \Degenerative brain disorder\Cerebral degeneration\Vanishing white matter disease
• \Leukoencephalopathy\Vanishing white matter disease
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Vanishing white matter disease
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Vanishing white matter disease
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Vanishing white matter disease
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\Vanishing white matter disease
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Vanishing white matter disease
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Vanishing white matter disease
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Vanishing white matter disease
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Vanishing white matter disease
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Leucodystrophy\Vanishing white matter disease
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Vanishing white matter disease
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Vanishing white matter disease
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Vanishing white matter disease
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Leukoencephalopathy\Vanishing white matter disease
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Leucodystrophy\Vanishing white matter disease
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Vanishing white matter disease
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Vanishing white matter disease
• \Disease\Disorder of head\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Vanishing white matter disease
• \Disease\Disorder of head\Encephalopathy\Leukoencephalopathy\Vanishing white matter disease

Status: current, Primitive. Date: 31-Jan 2011. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2880283014	Vanishing white matter disease (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
2883499019	Vanishing white matter disease	en	Synonym	Active	Case insensitive	SNOMED CT core
4551991015	Myelinosis centralis diffusa	en	Synonym	Active	Case insensitive	SNOMED CT core
4551992010	Childhood ataxia with diffuse central nervous system hypomyelination	en	Synonym	Active	Case insensitive	SNOMED CT core
4551993017	CACH (childhood ataxia with diffuse central nervous system hypomyelination) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4551994011	Leucoencephalopathy with vanishing white matter	en	Synonym	Active	Case insensitive	SNOMED CT core
4551995012	Leukoencephalopathy with vanishing white matter	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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