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X-gebonden syndroom van spasticiteit, verstandelijke beperking en epilepsie (aandoening)
X-gebonden syndroom van spasticiteit, verstandelijke beperking en epilepsie
X-gebonden syndroom van spasticiteit, mentale retardatie en epilepsie
X-gebonden syndroom van spasticiteit, verstandelijke handicap en epilepsie
X-linked spasticity, intellectual disability, epilepsy syndrome
This syndrome is characterized by myoclonic epilepsy with generalized spasticity and intellectual deficit. It has been described in six males from two generations of one family. Transmission appears to be X-linked recessive and the syndrome is caused by mutations in the aristaless-related homeobox gene (ARX, Xp22.13).
Id725163002
StatusPrimitive
Has interpretationverhoogd
Interpretsspiertonus
referentieset met complexe 'mapping' naar ICD-10
TargetG40.3
RuleTRUE
AdviceALWAYS G40.3
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
TargetR25.2
RuleTRUE
AdviceALWAYS R25.2
CorrelationSNOMED CT source code to target map code correlation not specified