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spinocerebellaire ataxie type 34 (aandoening)
spinocerebellaire ataxie type 34
SCA34
Spinocerebellar ataxia type 34
Spinocerebellar ataxia and erythrokeratodermia
Erythrokeratodermia with ataxia
Disease with characteristics of papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes. Reported in 25 members of one French-Canadian family to date. Due to a mutation in the ELOVL4 gene (6q14).
Id719255000
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydegeneratieve afwijking
Finding sitestructuur van cerebellum
Has interpretationafwijkend
Interpretskeratinisatie
referentieset met complexe 'mapping' naar ICD-10
TargetG11.1
RuleTRUE
AdviceALWAYS G11.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified