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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Transthyretin related familial amyloid cardiomyopathy (disorder) | est un(e) (attribut) | Myocardial degeneration | false | Inferred relationship | Some | ||
| Transthyretin related familial amyloid cardiomyopathy (disorder) | localisation d'une constatation (attribut) | structure du myocarde | true | Inferred relationship | Some | 1 | |
| Transthyretin related familial amyloid cardiomyopathy (disorder) | Causative agent | préalbumine | true | Inferred relationship | Some | 1 | |
| Transthyretin related familial amyloid cardiomyopathy (disorder) | est un(e) (attribut) | Infiltrative cardiomyopathy | true | Inferred relationship | Some | ||
| Transthyretin related familial amyloid cardiomyopathy (disorder) | est un(e) (attribut) | Cardiac familial non-neuropathic amyloidosis | true | Inferred relationship | Some | ||
| Transthyretin related familial amyloid cardiomyopathy (disorder) | morphologie associée (attribut) | Amyloid deposition | true | Inferred relationship | Some | 1 | |
| Transthyretin related familial amyloid cardiomyopathy (disorder) | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Transthyretin related familial amyloid cardiomyopathy (disorder) | est un(e) (attribut) | Familial restrictive cardiomyopathy | true | Inferred relationship | Some | ||
| Transthyretin related familial amyloid cardiomyopathy (disorder) | est un(e) (attribut) | Familial non-neuropathic amyloidosis | false | Inferred relationship | Some | ||
| Transthyretin related familial amyloid cardiomyopathy (disorder) | est un(e) (attribut) | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Transthyretin related familial amyloid cardiomyopathy (disorder) | localisation d'une constatation (attribut) | structure du myocarde | false | Inferred relationship | Some | 2 | |
| Transthyretin related familial amyloid cardiomyopathy (disorder) | est un(e) (attribut) | Hereditary amyloidosis (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR