aandoening van zintuiglijke functies	autosomaal dominante hereditaire aandoening	cerebellaire ataxie	hereditaire aandoening van auditief systeem	hereditaire ataxie	hereditaire cerebellaire degeneratie	narcolepsie	perceptief gehoorverlies
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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.

Id	722293005
Status	Primitive

Finding site

structuur van auditief systeem

Has interpretation	gestoord
Interprets	gehoorfunctie

Associated morphology	atrofische degeneratie
Finding site	structuur van cerebellum

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	G11.2
Rule	TRUE
Advice	ALWAYS G11.2
Correlation	SNOMED CT source code to target map code correlation not specified

Target	H90.5
Rule	TRUE
Advice	ALWAYS H90.5
Correlation	SNOMED CT source code to target map code correlation not specified

Target	G47.4
Rule	TRUE
Advice	ALWAYS G47.4
Correlation	SNOMED CT source code to target map code correlation not specified

Target	F03
Rule	TRUE
Advice	ALWAYS F03
Correlation	SNOMED CT source code to target map code correlation not specified