| glomerulopathie met fibronectineafzettingen (aandoening) | | glomerulopathie met fibronectineafzettingen | | Fibronectin glomerulopathy | | Glomerulopathy with fibronectin deposits
| | A primary glomerular disease with characteristics of proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life. Fibronectin glomerulopathy may present at different ages, although mostly in adolescence or early adulthood, with typical features of a nephrotic syndrome including hypertension. Clustering of the disease within families indicates a genetic origin. In 40% of families, the disease is caused by heterozygous mutations in the FN1 gene (2q34) encoding fibronectin. Whole-genome linkage analysis in a large pedigree showed another disease locus on 1q32, however no specific candidate genes has been identified so far. Segregation with disease appearance in successive generations is consistent with an autosomal dominant pattern of inheritance with age-related penetrance. |
| | Id | 818952002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | N07.6 | | Term | Hereditaire nefropathie, niet elders geclassificeerd; Dense deposit disease |
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| SNOMED CT to Orphanet simple map | 84090 |
| SNOMED CT to ICD-10 extended map | | Target | N07.6 | | Rule | TRUE | | Advice | ALWAYS N07.6 | 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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