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KCNQ2-gerelateerde epileptische encefalopathie (aandoening)
KCNQ2-gerelateerde epileptische encefalopathie
KCNQ2-related epileptic encephalopathy
KCNQ2-related neonatal epileptic encephalopathy
Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy
KCNQ2-NEE - potassium voltage-gated channel subfamily Q member 2-related neonatal epileptic encephalopathy
A severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability. Caused by heterozygous mutation in the KCNQ2 gene on chromosome 20q13.
Id778001003
StatusPrimitive
Finding sitestructuur van cerebrum
Occurrenceneonataal
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