Status: current, Primitive. Date: 30-Nov 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4667383011 | FLNA-related X-linked myxomatous valvular dysplasia | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 4667384017 | Filamin A-related X-linked myxomatous valvular dysplasia (disorder) | en | Fully specified name | Active | Initial character case insensitive | SNOMED CT core |
| 4667385016 | Filamin A-related X-linked myxomatous valvular dysplasia | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 4667386015 | FLNA-related valvular dystrophy | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 4667387012 | A rare genetic cardiac malformation with characteristics of progressive myxomatous degeneration predominantly of the mitral valve (but not uncommonly with multivalvular involvement), presenting as valve thickening and dysfunction with variable stenosis, prolapse, and/or regurgitation and potentially resulting in lethal heart failure. Hyperextensible skin and joint hypermobility have been reported in some patients. Hemizygous males display a more severe phenotype than heterozygous females. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| FLNA-related X-linked myxomatous valvular dysplasia | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| FLNA-related X-linked myxomatous valvular dysplasia | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| FLNA-related X-linked myxomatous valvular dysplasia | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| FLNA-related X-linked myxomatous valvular dysplasia | Is a | Myxoid transformation of cardiac valve | true | Inferred relationship | Some | ||
| FLNA-related X-linked myxomatous valvular dysplasia | Is a | Congenital anomaly of heart valve | true | Inferred relationship | Some | ||
| FLNA-related X-linked myxomatous valvular dysplasia | Is a | Congenital anomaly of atrioventricular valve | true | Inferred relationship | Some | ||
| FLNA-related X-linked myxomatous valvular dysplasia | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| FLNA-related X-linked myxomatous valvular dysplasia | Finding site | Atrioventricular valve | true | Inferred relationship | Some | 1 | |
| FLNA-related X-linked myxomatous valvular dysplasia | Associated morphology | Myxoid degeneration | true | Inferred relationship | Some | 1 | |
| FLNA-related X-linked myxomatous valvular dysplasia | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Cardiovascular finding reference set
Problem/Diagnosis reference set
FHIR