syndroom van spastische paraplegie, nefritis en doofheid (aandoening) | | syndroom van spastische paraplegie, nefritis en doofheid | | Spastic paraplegia, nephritis, deafness syndrome | | Fitzsimmons Walson Mellor syndrome
| | Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988. |
| Id | 733089005 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | G11.4 | Term | Hereditaire spastische paraplegie |
Target | N07.9 | Term | Hereditaire nefropathie, niet elders geclassificeerd; niet gespecificeerd |
Target | H90.3 | Term | Gehoorverlies door perceptiestoornis, dubbelzijdig |
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SNOMED CT to Orphanet simple map | 2820 |
SNOMED CT to ICD-10 extended map | Target | G11.4 | Rule | TRUE | Advice | ALWAYS G11.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | N07.9 | Rule | TRUE | Advice | ALWAYS N07.9 | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | H90.3 | Rule | TRUE | Advice | ALWAYS H90.3 | Correlation | SNOMED CT source code to target map code correlation not specified |
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