Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3424661010 | Polyvalvular heart disease syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3424662015 | Polyvalvular heart disease syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3424663013 | Rare syndrome with characteristics of the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit. Dysplasia may involve the mitral, tricuspidal, aortic and pulmonary valves. Dysmorphic facial anomalies are usually mild, vary among families and include a dolichocephalic face, broad forehead, ptosis, prominent nose, crowded teeth, high-arched palate and posteriorly angulated and everted ears. The severity of short stature is variable, as is the presence of intellectual deficit. The condition seems to be transmitted as an autosomal dominant trait. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
945591000172117 | syndrome PHD (polyvalvular heart disease) | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
1001171000172110 | syndrome de la maladie cardiaque polyvalvulaire | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets