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syndroom van spieratrofie, ataxie, retinitis pigmentosa en diabetes mellitus (aandoening)
syndroom van spieratrofie, ataxie, retinitis pigmentosa en diabetes mellitus
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 morphologyatrophia
Finding sitestructuur van skeletspier
Associated withgenetische aandoening
Associated morphologydegeneratieve afwijking
Finding sitestructuur van retina
DHD Diagnosis thesaurus reference set
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 Orphanet simple map2579
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