Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3723511014 | Lamin A/C related cardiocutaneous progeria syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3723512019 | LMNA-related cardiocutaneous progeria syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3723513012 | Lamin A/C related cardiocutaneous progeria syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3723514018 | A rare genetic premature ageing syndrome characterised by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (such as premature thinning and greying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3723515017 | A rare genetic premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (such as premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| LMNA-related cardiocutaneous progeria syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| LMNA-related cardiocutaneous progeria syndrome | Finding site | Skin structure | true | Inferred relationship | Some | 2 | |
| LMNA-related cardiocutaneous progeria syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| LMNA-related cardiocutaneous progeria syndrome | Finding site | Structure of cardiovascular system (body structure) | true | Inferred relationship | Some | 1 | |
| LMNA-related cardiocutaneous progeria syndrome | Is a | Premature aging syndrome (disorder) | false | Inferred relationship | Some | ||
| LMNA-related cardiocutaneous progeria syndrome | Is a | Hereditary cancer-predisposing syndrome | true | Inferred relationship | Some | ||
| LMNA-related cardiocutaneous progeria syndrome | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| LMNA-related cardiocutaneous progeria syndrome | Is a | Laminopathy with premature aging (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR