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. |
| Id | 237611007 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | M62.59 | Term | Spierverlies en -atrofie, niet elders geclassificeerd van lokalisatie niet gespecificeerd |
Target | R27.0 | Term | Ataxie, niet gespecificeerd |
Target | H35.5 | Term | Hereditaire retinadystrofie |
Target | E14.9 | Term | Niet gespecificeerde diabetes mellitus; Zonder complicaties |
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SNOMED CT to Orphanet simple map | 2579 |
SNOMED CT to ICD-10 extended map | Target | M62.59 | Rule | TRUE | Advice | ALWAYS M62.59 | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | R27.0 | Rule | TRUE | Advice | ALWAYS R27.0 | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | H35.5 | Rule | TRUE | Advice | ALWAYS H35.5 | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | E14.9 | Rule | TRUE | Advice | ALWAYS E14.9 | Correlation | SNOMED CT source code to target map code correlation not specified |
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