Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2020. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3303311010 | Transthyretin related familial amyloid cardiomyopathy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3303312015 | Transthyretin related familial amyloid cardiomyopathy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3303313013 | Transthyretin amyloid cardiopathy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3303314019 | ATTRV122I amyloidosis | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3303316017 | Hereditary transthyretin related systemic amyloidosis with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein. Prevalence is unknown, patients present during adulthood with restrictive cardiomyopathy. Over 80 pathogenetic mutations in the TTR gene (18q12.1) have been reported so far. Transmitted as an autosomal dominant trait. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3856071000052114 | transtyretinrelaterad familjär amyloid kardiomyopati | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| 4712071000052117 | ärftlig transtyretinamyloidos med kardiomyopati | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Transthyretin related familial amyloid cardiomyopathy (disorder) | Associated morphology | Amyloid deposition | true | Inferred relationship | Some | 1 | |
| Transthyretin related familial amyloid cardiomyopathy (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Transthyretin related familial amyloid cardiomyopathy (disorder) | Is a | Familial restrictive cardiomyopathy | true | Inferred relationship | Some | ||
| Transthyretin related familial amyloid cardiomyopathy (disorder) | Is a | Familial non-neuropathic amyloidosis | false | Inferred relationship | Some | ||
| Transthyretin related familial amyloid cardiomyopathy (disorder) | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Transthyretin related familial amyloid cardiomyopathy (disorder) | Finding site | Myocardium structure | false | Inferred relationship | Some | 2 | |
| Transthyretin related familial amyloid cardiomyopathy (disorder) | Is a | Hereditary amyloidosis (disorder) | true | Inferred relationship | Some | ||
| Transthyretin related familial amyloid cardiomyopathy (disorder) | Is a | Myocardial degeneration | false | Inferred relationship | Some | ||
| Transthyretin related familial amyloid cardiomyopathy (disorder) | Finding site | Myocardium structure | true | Inferred relationship | Some | 1 | |
| Transthyretin related familial amyloid cardiomyopathy (disorder) | Causative agent | Prealbumin | true | Inferred relationship | Some | 1 | |
| Transthyretin related familial amyloid cardiomyopathy (disorder) | Is a | Infiltrative cardiomyopathy | true | Inferred relationship | Some | ||
| Transthyretin related familial amyloid cardiomyopathy (disorder) | Is a | Cardiac familial non-neuropathic amyloidosis | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR