Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3311247011 | A rare entity usually diagnosed by echocardiography. It may be limited to one of the four valves but can also involve the two atrioventricular valves and the two semilunar valves. May be the hallmark of genetic anomalies. Chromosomal anomalies should be searched when polyvalvular dysplasia is found in a fetus, namely trisomy 18 and trisomy 13. Triscuspid valve dysplasia can be the only cardiac finding in trisomy 21 and a karyotype analysis should be performed in all fetuses exhibiting this anomaly. In the absence of chromosomal anomalies, polyvalvular dysplasia can be observed in Noonan syndrome. Thickening of the different cardiac valves can be observed in various storage diseases such as mucopolysaccharidoses. In these later conditions, it develops after the neonatal period and is frequently associated with extracardiac symptoms suggestive of the diagnosis. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3311244016 | Congenital dysplasia of cardiac valve (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3311245015 | Congenital dysplasia of cardiac valve | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3311246019 | Congenital valvular dysplasia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital dysplasia of cardiac valve (disorder) | Is a | Congenital anomaly of heart valve | true | Inferred relationship | Some | ||
| Congenital dysplasia of cardiac valve (disorder) | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 1 | |
| Congenital dysplasia of cardiac valve (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Congenital dysplasia of cardiac valve (disorder) | Finding site | Cardiac valve structure | true | Inferred relationship | Some | 1 | |
| Congenital dysplasia of cardiac valve (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Congenital dysplasia of cardiac valve (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 |
This concept is not in any reference sets
FHIR