autosomaal recessieve hereditaire aandoening
congenitale neuropathie
hereditaire ataxie
vroeg optredende cerebellaire ataxie
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spectrine-gerelateerde autosomaal recessieve cerebellaire ataxie (aandoening)
spectrine-gerelateerde autosomaal recessieve cerebellaire ataxie
autosomaal recessieve spinocerebellaire ataxie type 14
Spectrin-associated autosomal recessive cerebellar ataxia
Autosomal recessive cerebellar ataxia, cognitive defect syndrome
Autosomal recessive spinocerebellar ataxia type 14
Spectrin-associated autosomal recessive cerebellar ataxia type 1
A rare genetic neurological disease due to SPTBN2 (spectrin beta, non-erythrocytic 2) mutations. The disease has characteristics of global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement). Caused by homozygous mutation in the SPTBN2 gene on chromosome 11q13.
Id763351003
StatusPrimitive
Finding sitestructuur van cerebellum
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG11.1
TermVroeg optredende cerebellaire ataxie
SNOMED CT to Orphanet simple map352403
SNOMED CT to ICD-10 extended map
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