| encefalopathie door mutatie van alfasubeenheid type 2 van spanningsafhankelijk natriumkanaal (aandoening) | | encefalopathie door mutatie van alfasubeenheid type 2 van spanningsafhankelijk natriumkanaal | | 'sodium voltage-gated channel alpha subunit 2'-encefalopathie
SCN2A-encefalopathie
encefalopathie door mutatie van alfasubunit type 2 van spanningsafhankelijk natriumkanaal
| | SCN2A encephalopathy | | Sodium voltage-gated channel alpha subunit 2 encephalopathy
| | Encephalopathy caused by SCN2A mutation. SCN2A encodes the major subunit of voltage-gated sodium channels in excitatory neurons. Mutation may be associated with hereditary disease including autosomal dominant epilepsy syndrome and benign familial neonatal infantile seizures. De novo SCN2A mutations have been accepted to cause severe disorders including epileptic encephalopathies, intellectual disability without epilepsy, Ohtahara and West syndrome, epilepsy of infancy with migrating focal seizures (EIMFS). |
| | Id | 778002005 | | Status | Primitive |
| SNOMED CT to ICD-10 extended map | | Target | G93.8 | | Rule | TRUE | | Advice | ALWAYS G93.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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