Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3311280016 | Familial idiopathic steroid-resistant nephrotic syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4550342013 | Genetic steroid-resistant nephrotic syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4550343015 | Genetic steroid-resistant nephrotic syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4550344014 | Hereditary steroid-resistant nephrotic syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3311281017 | Nephrotic syndrome with often-early onset defined by severe proteinuria with low serum albumin and possible edema. This disease is rare but severe as it usually progresses to end-stage renal failure. Mutations in the NPHS2 gene (chromosome 1q25-q31 and encoding podocine) have been found to be involved in autosomal recessive forms of the disease. Mutations in the podocine gene have also been detected in later-onset forms and in apparently sporadic forms. Mutations in the ACTN4 gene, coding for alpha-actinine 4, have been reported in autosomal dominant forms. Familial forms of idiopathic steroid-resistant nephrotic syndrome do not respond to any treatment with steroids or immunosuppressive drugs and the disease progress to terminal renal failure. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3311282012 | Nephrotic syndrome with often-early onset defined by severe proteinuria with low serum albumin and possible oedema. This disease is rare but severe as it usually progresses to end-stage renal failure. Mutations in the NPHS2 gene (chromosome 1q25-q31 and encoding podocine) have been found to be involved in autosomal recessive forms of the disease. Mutations in the podocine gene have also been detected in later-onset forms and in apparently sporadic forms. Mutations in the ACTN4 gene, coding for alpha-actinine 4, have been reported in autosomal dominant forms. Familial forms of idiopathic steroid-resistant nephrotic syndrome do not respond to any treatment with steroids or immunosuppressive drugs and the disease progress to terminal renal failure. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Genetic steroid-resistant nephrotic syndrome (disorder) | Is a | Steroid-resistant nephrotic syndrome | true | Inferred relationship | Some | ||
| Genetic steroid-resistant nephrotic syndrome (disorder) | Is a | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
| Genetic steroid-resistant nephrotic syndrome (disorder) | Finding site | Glomerulus structure | true | Inferred relationship | Some | 3 | |
| Genetic steroid-resistant nephrotic syndrome (disorder) | Has interpretation | Above reference range | true | Inferred relationship | Some | 1 | |
| Genetic steroid-resistant nephrotic syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 2 | |
| Genetic steroid-resistant nephrotic syndrome (disorder) | Interprets | Albumin measurement | true | Inferred relationship | Some | 2 | |
| Genetic steroid-resistant nephrotic syndrome (disorder) | Interprets | Measurement of protein in urine (procedure) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR