encefalopathie door mutatie van alfasubeenheid type 2 van spanningsafhankelijk natriumkanaal
Epilepsy due to genetic disease
epileptische encefalopathie met ontwikkelingsstoornis
functie van zenuwstelsel afwijkend
genetische verstandelijke beperking
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Sodium voltage-gated channel alpha subunit 2 developmental and epileptic encephalopathy (disorder)
Sodium voltage-gated channel alpha subunit 2 developmental and epileptic encephalopathy
SCN2A-DEE - sodium voltage-gated channel alpha subunit 2 developmental and epileptic encephalopathy
SCN2A developmental and epileptic encephalopathy
An early onset developmental and epileptic encephalopathy due to SCN2A variant.
Id1402225001
StatusPrimitive
Has interpretationgestoord
InterpretsAdaptation behavior
Has interpretationgestoord
Interpretsintellectueel vermogen
Finding sitestructuur van encephalon
Pathological processproces van pathologische ontwikkeling
SNOMED CT to ICD-10 extended map
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