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syndroom van epilepsie en teleangiëctasie (aandoening)
syndroom van epilepsie en teleangiëctasie
Epilepsy telangiectasia syndrome
A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978.
Id733032006
StatusPrimitive
Associated morphologyabnormaal korte groei
Finding sitegehele digitus V van hand
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG40.8
TermOverige gespecificeerde vormen van epilepsie
TargetH11.4
TermOverige vaataandoeningen en cysten van conjunctiva
SNOMED CT to Orphanet simple map1951
SNOMED CT to ICD-10 extended map
TargetG40.8
RuleTRUE
AdviceALWAYS G40.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified