Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3856295011 | Fibronectin glomerulopathy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3856296012 | Glomerulopathy with fibronectin deposits | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3856297015 | Fibronectin glomerulopathy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3856298013 | 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3856299017 | A primary glomerular disease with characteristics of proteinuria, type IV renal tubular acidosis, microscopic haematuria 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Fibronectin glomerulopathy | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Fibronectin glomerulopathy | Is a | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
| Fibronectin glomerulopathy | Is a | Renal disorders in inherited disease | false | Inferred relationship | Some | ||
| Fibronectin glomerulopathy | Is a | Glomerular disease | true | Inferred relationship | Some | ||
| Fibronectin glomerulopathy | Finding site | Glomerulus structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Glomerulopathy with fibronectin deposits 1 | Is a | True | Fibronectin glomerulopathy | Inferred relationship | Some | |
| Glomerulopathy with fibronectin deposits 2 (disorder) | Is a | True | Fibronectin glomerulopathy | Inferred relationship | Some |
This concept is not in any reference sets
FHIR