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leukencefalopathie met lichte cerebellaire ataxie en wittestofoedeem (aandoening)
leukencefalopathie met lichte cerebellaire ataxie en wittestofoedeem
CLCN2-related leukoencephalopathy
Leukoencephalopathy with ataxia
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
CLCN2 (chloride voltage-gated channel 2) related leukoencephalopathy
A disorder of the white matter of the brain causing neurological problems, which can occur, anytime from childhood to adulthood. Characteristics of the disease include learning disabilities, retinopathy, atrophy of the optic nerves, spasticity, infertility in males, vertigo, tinnitus, hearing loss, paroxysmal kinesigenic dyskinesia and psychiatric disorders. In affected individuals, myelin becomes edematous causing impaired nerve impulse transmission. Caused by mutations in the CLCN2 gene. Inherited in an autosomal recessive pattern.
Id768663003
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetE75.2
RuleTRUE
AdviceALWAYS E75.2
CorrelationSNOMED CT source code to target map code correlation not specified