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. |
| 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 | G11.1 | Rule | TRUE | Advice | ALWAYS G11.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
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