Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3649921014 | Cardiac arrhythmia ankyrin-B related | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3649922019 | Ankyrin-B syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3649923012 | Cardiac arrhythmia ankyrin-B related (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3649621012 | Syndrome with characteristics of a variety of cardiac problems related to arrhythmia. The disease may be associated with problems with the sinoatrial node, which may lead to bradycardia. In a small number of cases prolonged QT interval may occur. Some affected individuals have impaired conduction leading to heart block. Other manifestations include atrial fibrillation, ventricular fibrillation and catecholaminergic polymorphic ventricular tachycardia. Arrhythmia can lead to syncope, cardiac arrest and sudden death. Caused by mutations in the ANK2 gene leading to production of an altered ankyrin-B protein that cannot target ion channels to their correct locations in cardiac muscle cells. Inherited in an autosomal dominant pattern. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Ankyrin-B syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Ankyrin-B syndrome | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Ankyrin-B syndrome | Is a | Cardiac arrhythmia associated with genetic disorder (disorder) | true | Inferred relationship | Some | ||
| Ankyrin-B syndrome | Is a | Congenital cardiovascular disorder (disorder) | true | Inferred relationship | Some | ||
| Ankyrin-B syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Ankyrin-B syndrome | Finding site | Heart structure | true | Inferred relationship | Some | 1 | |
| Ankyrin-B syndrome | Finding site | Cardiac conducting system structure | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR