epileptische encefalopathie met ontwikkelingsstoornis
hypothalaam hamartoom
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hypothalaam hamartoom met gelastische epileptische aanval (aandoening)
hypothalaam hamartoom met gelastische epileptische aanval
hamartoom van hypothalamus met gelastisch insult
HH met gelastisch insult
hypothalame hamartoma met gelastisch insult
Hypothalamic hamartoma with gelastic seizure
A rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (ictal laughter) or dacrystic (ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty.
Id766932005
StatusPrimitive
Associated morphologyhamartoom
Finding sitestructuur van hypothalamus
Finding sitestructuur van encephalon
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG40.5
TermSpeciale epileptische syndromen
TargetQ85.8
TermOverige gespecificeerde facomatosen, niet elders geclassificeerd
SNOMED CT to Orphanet simple map86906
SNOMED CT to ICD-10 extended map
TargetG40.5
RuleTRUE
AdviceALWAYS G40.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ85.8
RuleTRUE
AdviceALWAYS Q85.8
CorrelationSNOMED CT source code to target map code correlation not specified