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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
DHD Diagnosethesaurus-referentieset
referentieset met complexe door RIVM geautoriseerde nationale 'mapping' naar ICD-10 voor diagnosethesaurus
TargetG40.8
TermOverige gespecificeerde vormen van epilepsie
TargetH11.4
TermOverige vaataandoeningen en cysten van conjunctiva
referentieset met complexe 'mapping' naar ICD-10
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