Benign adult familial myoclonic epilepsy (disorder) | | 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 | | benigne familiaire myoklonische epilepsie bij volwassene | | benigne familiaire myoclonusepilepsie op volwassen leeftijd
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| Id | 717225001 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
ICD-10 complex map reference set | Target | G40.3 | Rule | TRUE | Advice | ALWAYS G40.3 | Correlation | SNOMED CT source code to target map code correlation not specified |
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