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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
Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by 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).
Id763351003
StatusPrimitive
DHD Diagnosis thesaurus reference set
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