| tubulo-interstitiële nefritis bij karyomegalie (aandoening) | | tubulo-interstitiële nefritis bij karyomegalie | | TIN bij karyomegalie
karyomegalische interstitiële nefritis
| | Karyomegalic interstitial nephritis | | KIN - karyomegalic interstitial nephritis
Systemic karyomegaly
| | A rare genetic renal disease with characteristics of slowly progressive chronic tubulointerstitial nephritis leading to end-stage renal disease before the age of 50 years. The disease manifests mild proteinuria, glucosuria and occasionally urinary sediment abnormalities. Mild extrarenal manifestations such as recurrent upper respiratory tract infections and abnormal liver function tests may be associated. Renal biopsy reveals severe chronic interstitial fibrosis and tubular changes as well as hallmark karyomegalic tubular epithelial cells which line the proximal and distal tubules and have enlarged hyperchromatic nuclei. Caused by homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q. |
| | Id | 782738008 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | N11.8 | | Term | Overige gespecificeerde chronische tubulo-interstitiële nefritis |
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| SNOMED CT to Orphanet simple map | 401996 |
| SNOMED CT to ICD-10 extended map | | Target | N11.8 | | Rule | TRUE | | Advice | ALWAYS N11.8 | 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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