| familair steroïdresistent nefrotisch syndroom met perceptief gehoorverlies (aandoening) | | familair steroïdresistent nefrotisch syndroom met perceptief gehoorverlies | | familair SRNS met perceptief gehoorverlies
familair niet-steroïdgevoelig nefrotisch syndroom met perceptief gehoorverlies
| | Familial steroid-resistant nephrotic syndrome with sensorineural deafness | | A rare genetic coenzyme Q10 deficiency with characteristics of sensorineural deafness and severe progressive nephrotic syndrome not responding to steroid treatment. Clinical manifestations include early onset proteinuria, hypoalbuminemia and edema, leading to end-stage renal disease. Renal biopsy reveals focal segmental glomerulosclerosis and diffuse mesangial sclerosis. Rarely seizures, ataxia and dysmorphic features have been described. |
| | Id | 783614008 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | N04.8 | | Term | Nefrotisch syndroom; Anders gespecificeerd |
| Target | H90.5 | | Term | Gehoorverlies door perceptiestoornis, niet gespecificeerd |
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| SNOMED CT to Orphanet simple map | 280406 |
| SNOMED CT to ICD-10 extended map | | Target | N04.8 | | Rule | TRUE | | Advice | ALWAYS N04.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | H90.5 | | Rule | TRUE | | Advice | ALWAYS H90.5 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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