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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 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.
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
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