| Dravet-syndroom (aandoening) | | Dravet-syndroom | | SMEI
syndroom van Dravet
ernstige myoklonische epilepsie van jonge kinderen
| | syndroom van Dravet | | Dit is een vorm van epilepsie die voorkomt bij kinderen, vaak in combinatie met een verstandelijke achterstand. | | Severe myoclonic epilepsy in infancy | | Dravet Syndrome
| | A genetic epilepsy of childhood with characteristics of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Seizures can regress in adulthood but most patients have ongoing seizures that are refractory to medication. Around 85% of cases are due to a mutation or deletion in the SCN1A gene (2q24.3), encoding a voltage-gated sodium channel essential for the excitability of neurons. In families with a known SCN1A mutation, inheritance is autosomal dominant. |
| | Id | 230437002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 33069 |
| SNOMED CT to ICD-10 extended map | | Target | G40.4 | | Rule | TRUE | | Advice | ALWAYS G40.4 | 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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