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Female restricted epilepsy with intellectual disability syndrome (disorder)
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.
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
Id716706009
StatusPrimitive
Finding siteCerebrum
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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