Autosomal recessive hereditary disorder
Developmental and epileptic encephalopathy
Developmental hereditary disorder
Hereditary disorder of nervous system
Mesial temporal lobe epilepsy
|||||
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression (disorder)
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression is 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.
Id773421009
StatusPrimitive
Finding siteTemporal lobe structure
OccurrenceInfancy
Pathological processPathological developmental process
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG40.2
TermLokalisatiegebonden (focale)(partiële) symptomatische epilepsie en epileptische syndromen met complexe partiële aanvallen
SNOMED CT to ICD-10 extended map
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