||
Dravet-syndroom (aandoening)
Dravet-syndroom
syndroom van Dravet
ernstige myoklonische epilepsie van jonge kinderen
SMEI
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.
Id230437002
StatusPrimitive
InterpretsMovement
DHD Diagnosethesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetG40.4
RuleTRUE
AdviceALWAYS G40.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified