Status: current, Not 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 |
| 3305040015 | Short stature with valvular heart disease and characteristic facies syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3305041016 | Short stature with valvular heart disease and characteristic facies syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5401253018 | Short stature-valvular heart disease-characteristic facies syndrome is characterized by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401254012 | Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Short stature with valvular heart disease and characteristic facies syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Short stature with valvular heart disease and characteristic facies syndrome (disorder) | Is a | Congenital anomaly of heart valve | true | Inferred relationship | Some | ||
| Short stature with valvular heart disease and characteristic facies syndrome (disorder) | Is a | Multiple malformation syndrome, moderate short stature, facial | true | Inferred relationship | Some | ||
| Short stature with valvular heart disease and characteristic facies syndrome (disorder) | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Short stature with valvular heart disease and characteristic facies syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 1 | |
| Short stature with valvular heart disease and characteristic facies syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Short stature with valvular heart disease and characteristic facies syndrome (disorder) | Finding site | Cardiac valve structure | true | Inferred relationship | Some | 1 | |
| Short stature with valvular heart disease and characteristic facies syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Short stature with valvular heart disease and characteristic facies syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Short stature with valvular heart disease and characteristic facies syndrome (disorder) | 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)
FHIR