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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.
Id733065003
StatusPrimitive
Interpretsgehoorfunctie
Finding sitestructuur van auris
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetG11.1
RuleTRUE
AdviceALWAYS G11.1
CorrelationSNOMED CT source code to target map code correlation not specified
TargetG25.3
RuleTRUE
AdviceALWAYS G25.3
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