| benigne familiaire neonatale-infantiele convulsies (aandoening) | | benigne familiaire neonatale-infantiele convulsies | | BFNIC
benigne familiaire neonatale-infantiele insulten
benigne familiaire neonatale-infantiele epileptische aanvallen
| | Benign familial neonatal-infantile seizures | | Benign neonatal-infantile epilepsy
BFNIS - benign familial neonatal-infantile seizures
| | Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS). Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant. |
| | Id | 1231282002 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 140927 |
| SNOMED CT to ICD-10 extended map | | Target | G40.4 | | Rule | TRUE | | Advice | ALWAYS G40.4 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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