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syndroom van epilepsie en verstandelijke beperking beperkt tot vrouwen (aandoening)
syndroom van epilepsie en verstandelijke beperking beperkt tot vrouwen
syndroom van epilepsie en mentale retardatie beperkt tot vrouwen
syndroom van epilepsie en verstandelijke handicap beperkt tot vrouwen
Female restricted epilepsy with intellectual disability syndrome
A rare X-linked genetic epilepsy syndrome affecting females. The syndrome has characteristics of seizures starting in the first years of life and intellectual disability and may resemble Dravet syndrome. In families with this disease, male carriers are unaffected despite the X-linked inheritance.
Id716706009
StatusPrimitive
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map101039
SNOMED CT to ICD-10 extended map
TargetG40.8
RuleTRUE
AdviceALWAYS G40.8
CorrelationSNOMED CT source code to target map code correlation not specified
TargetF79.9
RuleTRUE
AdviceALWAYS F79.9
CorrelationSNOMED CT source code to target map code correlation not specified