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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
Benign adult familial myoclonus epilepsy
BAFME - Benign adult familial myoclonic epilepsy
Autosomal dominant cortical myoclonus and 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
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG40.3
TermGegeneraliseerde idiopathische epilepsie en epileptische syndromen
SNOMED CT to Orphanet simple map86814
SNOMED CT to ICD-10 extended map
TargetG40.3
RuleTRUE
AdviceALWAYS G40.3
CorrelationSNOMED CT source code to target map code correlation not specified