| 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 |
| | Id | 717225001 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G40.3 | | Term | Gegeneraliseerde idiopathische epilepsie en epileptische syndromen |
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| SNOMED CT to Orphanet simple map | 86814 |
| SNOMED CT to ICD-10 extended map | | 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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