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congenitale cerebellaire ataxie door RNU12-mutatie (aandoening)
congenitale cerebellaire ataxie door RNU12-mutatie
congenitale cerebellaire ataxie door mutatie van klein nucleair RNA U12
congenitale cerebellaire ataxie door mutatie van snRNA U12
Congenital cerebellar ataxia due to RNU12 mutation
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation
A rare hereditary ataxia with characteristics of delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume.
Id1177169004
StatusPrimitive
Associated morphologyhypoplasie
Finding sitestructuur van cerebellum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
SNOMED CT to Orphanet simple map512260
SNOMED CT to ICD-10 extended map
TargetG11.0
RuleTRUE
AdviceALWAYS G11.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified