Status: current, Defined. 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 | Case insensitive | SNOMED CT core |
3303312015 | Transthyretin related familial amyloid cardiomyopathy | en | Synonym | Active | Case insensitive | SNOMED CT core |
3303313013 | Transthyretin amyloid cardiopathy | en | Synonym | Active | Case insensitive | SNOMED CT core |
3303314019 | ATTRV122I amyloidosis | en | Synonym | Active | Case sensitive | 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 | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Transthyretin related familial amyloid cardiomyopathy | Is a | Myocardial degeneration | false | Inferred relationship | Some | ||
Transthyretin related familial amyloid cardiomyopathy | Finding site | Myocardium structure | true | Inferred relationship | Some | 1 | |
Transthyretin related familial amyloid cardiomyopathy | Causative agent | Prealbumin | true | Inferred relationship | Some | 1 | |
Transthyretin related familial amyloid cardiomyopathy | Is a | Infiltrative cardiomyopathy | true | Inferred relationship | Some | ||
Transthyretin related familial amyloid cardiomyopathy | Is a | Cardiac familial non-neuropathic amyloidosis | true | Inferred relationship | Some | ||
Transthyretin related familial amyloid cardiomyopathy | Associated morphology | Amyloid deposition | true | Inferred relationship | Some | 1 | |
Transthyretin related familial amyloid cardiomyopathy | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Transthyretin related familial amyloid cardiomyopathy | Is a | Familial restrictive cardiomyopathy | true | Inferred relationship | Some | ||
Transthyretin related familial amyloid cardiomyopathy | Is a | Familial non-neuropathic amyloidosis | false | Inferred relationship | Some | ||
Transthyretin related familial amyloid cardiomyopathy | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
Transthyretin related familial amyloid cardiomyopathy | Finding site | Myocardium structure | false | Inferred relationship | Some | 2 | |
Transthyretin related familial amyloid cardiomyopathy | Is a | Hereditary amyloidosis | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Cardiovascular finding reference set
Problem/Diagnosis reference set