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syndroom van autosomaal dominante cerebellaire ataxie, doofheid en narcolepsie (aandoening)
syndroom van autosomaal dominante cerebellaire ataxie, doofheid en narcolepsie
ADCA-DN-syndroom
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome
A polymorphic disorder with characteristics of ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia. Disease onset occurs in adulthood from the ages of 30-40. Mild brain atrophy with cerebellum involvement is visible with magnetic resonance imaging. Caused by a mutation in the DNA methyltransferase (DNMT1) gene located on chromosome 19p13.2. It encodes an enzyme essential for the repression of transcriptional activity in numerous postmitotic cells.
Id722293005
StatusPrimitive
Interpretsgehoorfunctie
Associated morphologyatrofische degeneratie
Finding sitestructuur van cerebellum
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetG11.2
RuleTRUE
AdviceALWAYS G11.2
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH90.5
RuleTRUE
AdviceALWAYS H90.5
CorrelationSNOMED CT source code to target map code correlation not specified
TargetG47.4
RuleTRUE
AdviceALWAYS G47.4
CorrelationSNOMED CT source code to target map code correlation not specified
TargetF03
RuleTRUE
AdviceALWAYS F03
CorrelationSNOMED CT source code to target map code correlation not specified