Autosomal recessive hereditary disorder
Hereditary disorder of nervous system
Leukoencephalopathy
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Progressive cavitating leukoencephalopathy (disorder)
Progressive cavitating leukoencephalopathy
Progressive cavitating leukoencephalopathy has characteristics of acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability. So far around 20 patients have been reported in the literature. Onset occurs in infancy or early childhood. The mode of transmission is autosomal recessive.
progressieve caviterende leukencefalopathie
Id719267003
StatusPrimitive
Finding siteCerebral white matter structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetE75.2
RuleTRUE
AdviceALWAYS E75.2
CorrelationSNOMED CT source code to target map code correlation not specified