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 |
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 | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403066017 | A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403067014 | A rare multiple congenital anomalies syndrome characterised by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
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 |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay. | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay. | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay. | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay. | Is a | Congenital dysplasia of cardiac valve (disorder) | true | Inferred relationship | Some | ||
A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay. | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 2 | |
A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay. | Finding site | Cardiac valve structure | true | Inferred relationship | Some | 2 | |
A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay. | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay. | Associated morphology | dysgenese | false | Inferred relationship | Some | 2 | |
A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay. | Finding site | Face structure | false | Inferred relationship | Some | 2 | |
A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay. | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 3 | |
A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay. | Finding site | Cardiac valve structure | false | Inferred relationship | Some | 3 | |
A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay. | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay. | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)