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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
Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an 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