Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3318117011 | Tubular renal disease with cardiomyopathy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3318118018 | Tubular renal disease with cardiomyopathy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3318119014 | This syndrome is characterized by hypokalemic metabolic alkalosis secondary to a tubulopathy, hypomagnesemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. It has been described in two patients, a father and his daughter. The condition shows some similarities to the Gitelman and Bartter syndromes. The mode of transmission appears to be autosomal dominant. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3318120015 | This syndrome is characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. It has been described in two patients, a father and his daughter. The condition shows some similarities to the Gitelman and Bartter syndromes. The mode of transmission appears to be autosomal dominant. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Tubular renal disease with cardiomyopathy syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Tubular renal disease with cardiomyopathy syndrome (disorder) | Is a | Renal tubular disorder | true | Inferred relationship | Some | ||
| Tubular renal disease with cardiomyopathy syndrome (disorder) | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Tubular renal disease with cardiomyopathy syndrome (disorder) | Is a | Congestive cardiomyopathy (disorder) | true | Inferred relationship | Some | ||
| Tubular renal disease with cardiomyopathy syndrome (disorder) | Is a | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
| Tubular renal disease with cardiomyopathy syndrome (disorder) | Finding site | Renal tubule structure (body structure) | true | Inferred relationship | Some | 1 | |
| Tubular renal disease with cardiomyopathy syndrome (disorder) | Associated morphology | Dilatation | true | Inferred relationship | Some | 2 | |
| Tubular renal disease with cardiomyopathy syndrome (disorder) | Finding site | Myocardium structure | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR