Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4667384017 | Filamin A-related X-linked myxomatous valvular dysplasia (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4667385016 | Filamin A-related X-linked myxomatous valvular dysplasia | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4667386015 | FLNA-related valvular dystrophy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 12137201000172115 | dysplasie valvulaire myxomatose liée à l'X associée à FLNA (filamine A) | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 12137211000172117 | dystrophie valvulaire associée à FLNA (filamine A) | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 12137221000172110 | dysplasie valvulaire myxomatose liée à l'X associée à la filamine A | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 7295091000172115 | FLNA-gerelateerde X-gebonden myxomateuze dysplasie van hartklep | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
| 7295101000172111 | filamine A-gerelateerde X-gebonden myxomateuze dysplasie van hartklep | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 7295111000172114 | FLNA-gerelateerde klepdystrofie | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
| 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 (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR