Autosomal recessive hereditary disorder
Hereditary disorder of nervous system
Temporal lobe epilepsy
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Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression (disorder)
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities.
infantiele mesiale temporalekwabepilepsie met ernstige verstandelijke beperking
infantiele mesiale temporalekwabepilepsie met ernstige cognitieve achteruitgang
Id773421009
StatusPrimitive
Finding siteTemporal lobe structure
OccurrenceInfancy
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG40.2
RuleTRUE
AdviceALWAYS G40.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified