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benigne familiaire myoklonische epilepsie bij volwassene (aandoening)
benigne familiaire myoklonische epilepsie bij volwassene
benigne familiaire myoclonusepilepsie op volwassen leeftijd
Benign adult familial myoclonic epilepsy
Autosomal dominant cortical myoclonus and epilepsy
Benign adult familial myoclonus epilepsy
BAFME - Benign adult familial myoclonic epilepsy
An inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia. Usually presents in the second decade of life with a minor cortical hand tremor. Mapped to at least 4 different chromosomal loci. Transmitted autosomal dominantly and penetrance is high
Id717225001
StatusPrimitive
Occurrencevolwassenheid
referentieset met complexe 'mapping' naar ICD-10
TargetG40.3
RuleTRUE
AdviceALWAYS G40.3
CorrelationSNOMED CT source code to target map code correlation not specified