aandoening van oor	aandoening van zintuiglijke functies	autosomaal dominante hereditaire aandoening	cerebellaire ataxie	congenitaal perceptief gehoorverlies	congenitale neuropathie	extrapiramidale aandoening	gehoorverlies bij syndroom	hereditaire aandoening van auditief systeem	hereditaire ataxie	myoklonische aandoening
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syndroom van myoklonie, cerebellaire ataxie en doofheid (aandoening)
	syndroom van myoklonie, cerebellaire ataxie en doofheid
	syndroom van myoclonus, cerebellaire ataxie en gehoorverlies
	Myoclonus, cerebellar ataxia, deafness syndrome
	Syndrome with the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. So far, less than 10 cases have been reported in the literature. The hearing loss was generally diagnosed during childhood or early adulthood and the myoclonic jerks began during adolescence. Transmission appears to be autosomal dominant.

Id	733065003
Status	Primitive

Interprets

Finding site	structuur van cerebellum
Occurrence	congenitaal

Finding site	structuur van oor
Occurrence	congenitaal

Interprets

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	G11.1
Term	Vroeg optredende cerebellaire ataxie

Target	G25.3
Term	Myoclonus

Target	H90.5
Term	Gehoorverlies door perceptiestoornis, niet gespecificeerd

SNOMED CT to Orphanet simple map

2589

SNOMED CT to ICD-10 extended map

Target	G11.1
Rule	TRUE
Advice	ALWAYS G11.1
Correlation	SNOMED CT source code to target map code correlation not specified

Target	G25.3
Rule	TRUE
Advice	ALWAYS G25.3
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