Autosomal dominant hereditary disorder
Degeneration of retina
Diabetes mellitus associated with genetic syndrome
Hereditary ataxia
Hereditary disorder of endocrine system
Hereditary disorder of musculoskeletal system
Hereditary disorder of the visual system
Muscle atrophy
Secondary myopathy
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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 characterized by neurogenic muscular atrophy associated with signs of cerebellar ataxia, hypesthesia, degeneration of the retina, and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive. There have been no further descriptions in the literature since 1983.
Id237611007
StatusPrimitive
Associated morphologyAtrophy
Finding siteSkeletal muscle structure
Finding siteStructure of endocrine system
Finding siteStructure of nervous system
Associated morphologyDegenerative abnormality
Finding siteRetinal structure
Due toGenetic disease
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetM62.59
TermSpierverlies en -atrofie, niet elders geclassificeerd van lokalisatie niet gespecificeerd
TargetR27.0
TermAtaxie, niet gespecificeerd
TargetH35.5
TermHereditaire retinadystrofie
TargetE14.9
TermNiet gespecificeerde diabetes mellitus; Zonder complicaties
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