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leukencefalopathie met lichte cerebellaire ataxie en wittestofoedeem (aandoening)
leukencefalopathie met lichte cerebellaire ataxie en wittestofoedeem
CLCN2-related leukoencephalopathy
CLCN2 (chloride voltage-gated channel 2) related leukoencephalopathy
Leukoencephalopathy with ataxia
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
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
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE75.2
TermOverige gespecificeerde sfingolipidosen
SNOMED CT to Orphanet simple map363540
SNOMED CT to ICD-10 extended map
TargetE75.2
RuleTRUE
AdviceALWAYS E75.2
CorrelationSNOMED CT source code to target map code correlation not specified