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syndroom van epilepsie en teleangiëctasie (aandoening)
syndroom van epilepsie en teleangiëctasie
Epilepsy telangiectasia syndrome
Syndrome with characteristics of intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum immunoglobulin antibody, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait.
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
TargetH11.4
RuleTRUE
AdviceALWAYS H11.4
CorrelationSNOMED CT source code to target map code correlation not specified