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Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus (disorder)
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
Furukawa Takagi Nakao syndrome
A rare hereditary ataxia with characteristics of neurogenic muscular atrophy associated with signs of cerebellar ataxia, degeneration of the retina and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive.
syndroom van spieratrofie, ataxie, retinitis pigmentosa en diabetes mellitus
Id237611007
StatusPrimitive
Associated morphologyAtrophy
Finding siteSkeletal muscle structure
Associated withGenetic disease
Associated morphologyDegenerative abnormality
Finding siteRetinal structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetM62.59
RuleTRUE
AdviceALWAYS M62.59
CorrelationSNOMED CT source code to target map code correlation not specified
TargetR27.0
RuleTRUE
AdviceALWAYS R27.0
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH35.5
RuleTRUE
AdviceALWAYS H35.5
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE14.9
RuleTRUE
AdviceALWAYS E14.9
CorrelationSNOMED CT source code to target map code correlation not specified