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'Cayman type' van cerebellaire ataxie-type (aandoening)
'Cayman type' van cerebellaire ataxie-type
cerebellar ataxia Cayman type
Cerebellar ataxia Cayman type
Cayman ataxia
A rare, autosomal recessive, congenital, cerebellar ataxia disorder characterized by hypotonia from birth, marked psychomotor delay and prominent cerebellar dysfunction (manifesting with nystagmus, intention tremor, dysarthria, ataxic gait and truncal ataxia), described in an isolated population of the Grand Cayman Island. Cerebellar hypoplasia, observed on CT scan, may be associated.
Id717332007
StatusPrimitive
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG11.0
TermCongenitale niet-progressieve ataxie
SNOMED CT to Orphanet simple map94122
SNOMED CT to ICD-10 extended map
TargetG11.0
RuleTRUE
AdviceALWAYS G11.0
CorrelationSNOMED CT source code to target map code correlation not specified