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X-linked epilepsy with learning disability and behavior disorder syndrome (disorder)
X-linked epilepsy with learning disability and behavior disorder syndrome
This syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behavior. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).
X-gebonden epilepsie, leerstoornis en gedragsstoornis
Id717223008
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
TargetF81.9
RuleTRUE
AdviceALWAYS F81.9
CorrelationSNOMED CT source code to target map code correlation not specified
TargetF91.9
RuleTRUE
AdviceALWAYS F91.9
CorrelationSNOMED CT source code to target map code correlation not specified