| autosomaal dominante intermediaire hereditaire motorische en sensorische neuropathie type E (aandoening) | | autosomaal dominante intermediaire hereditaire motorische en sensorische neuropathie type E | | DI-HMSN E
DI-CMT E
autosomaal dominante intermediaire ziekte van Charcot-Marie-Tooth type E
| | Autosomal dominant intermediate Charcot-Marie-Tooth disease type E | | Charcot-Marie-Tooth disease with nephropathy syndrome
| | Syndrome with the association of Charcot-Marie-Tooth disease and nephropathy. So far, around 15 cases have been described. All patients had proteinuria at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. Caused by heterozygous mutation in the INF2 gene on chromosome 14q32. |
| | Id | 722294004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G60.0 | | Term | Hereditaire motorische en sensorische neuropathie |
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| SNOMED CT to Orphanet simple map | 93114 |
| SNOMED CT to ICD-10 extended map | | Target | G60.0 | | Rule | TRUE | | Advice | ALWAYS G60.0 | 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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