Auditory system hereditary disorder
Autosomal recessive hereditary disorder
Blindness AND/OR vision impairment level
Decreased hearing
Hearing loss associated with syndrome
Hereditary disorder of the visual system
Spinocerebellar ataxia
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Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
Autosomal recessive spinocerebellar ataxia type 3
Autosomal recessive spinocerebellar ataxia, blindness, hearing loss syndrome
SCAR3 - spinocerebellar ataxia autosomal recessive type 3
A rare autosomal recessive syndromic cerebellar ataxia with the association of early-onset cerebellar ataxia, hearing loss and blindness. Patients may also present demyelinating peripheral motor neuropathy. Cerebral MRI shows alterations of the cerebellar white matter without cerebellar atrophy.
Id1204415006
StatusPrimitive
Finding siteStructure of visual system
Finding siteStructure of auditory system
Has interpretationDecreased
InterpretsHearing
Associated morphologyDegenerative abnormality
Finding siteCerebellar structure
Associated morphologyDegenerative abnormality
Finding siteSpinal cord structure
ICD-10 complex map reference set
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