autosomaal dominante hereditaire aandoening
epileptische encefalopathie met ontwikkelingsstoornis
hereditaire aandoening van zenuwstelsel
hereditaire ontwikkelingsstoornis
verstandelijke beperking
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'synaptic Ras GTPase activating protein 1'-gerelateerde epileptische encefalopathie met ontwikkelingsachterstand (aandoening)
'synaptic Ras GTPase activating protein 1'-gerelateerde epileptische encefalopathie met ontwikkelingsachterstand
SYNGAP1-gerelateerde epileptische encefalopathie met ontwikkelingsachterstand
SYNGAP1-related developmental and epileptic encephalopathy
Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy
A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD).
Id1222656005
StatusPrimitive
Finding sitestructuur van encephalon
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
InterpretsAdaptation behavior
Has interpretationgestoord
Interpretsintellectueel vermogen
SNOMED CT to Orphanet simple map544254
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