Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3323365015 | Al Gazali Aziz Salem syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3323367011 | Short stature with webbed neck and congenital heart disease syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3323368018 | Short stature with webbed neck and congenital heart disease syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5402577010 | Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short, webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin siblings born to consanguineous parents. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402578017 | Short stature-webbed neck-heart disease syndrome is characterised by short stature, intellectual deficit, facial dysmorphism, short, webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin siblings born to consanguineous parents. | 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 webbed neck and congenital heart disease syndrome (disorder) | Is a | Neck webbing | true | Inferred relationship | Some | ||
| Short stature with webbed neck and congenital heart disease syndrome (disorder) | Is a | Congenital heart disease | true | Inferred relationship | Some | ||
| Short stature with webbed neck and congenital heart disease syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Short stature with webbed neck and congenital heart disease syndrome (disorder) | Is a | Mental retardation | false | Inferred relationship | Some | ||
| Short stature with webbed neck and congenital heart disease syndrome (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| Short stature with webbed neck and congenital heart disease syndrome (disorder) | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Short stature with webbed neck and congenital heart disease syndrome (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Short stature with webbed neck and congenital heart disease syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 3 | |
| Short stature with webbed neck and congenital heart disease syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Short stature with webbed neck and congenital heart disease syndrome (disorder) | Finding site | Heart structure | false | Inferred relationship | Some | 3 | |
| Short stature with webbed neck and congenital heart disease syndrome (disorder) | Associated morphology | Congenital webbing | false | Inferred relationship | Some | 4 | |
| Short stature with webbed neck and congenital heart disease syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Short stature with webbed neck and congenital heart disease syndrome (disorder) | Finding site | Skin structure of neck (body structure) | false | Inferred relationship | Some | 4 | |
| Short stature with webbed neck and congenital heart disease syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 5 | |
| Short stature with webbed neck and congenital heart disease syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Short stature with webbed neck and congenital heart disease syndrome (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 5 | |
| Short stature with webbed neck and congenital heart disease syndrome (disorder) | Associated morphology | Congenital webbing | true | Inferred relationship | Some | 3 | |
| Short stature with webbed neck and congenital heart disease syndrome (disorder) | Finding site | Skin structure of neck (body structure) | true | Inferred relationship | Some | 3 | |
| Short stature with webbed neck and congenital heart disease syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Short stature with webbed neck and congenital heart disease syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Short stature with webbed neck and congenital heart disease syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Short stature with webbed neck and congenital heart disease syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Short stature with webbed neck and congenital heart disease syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Short stature with webbed neck and congenital heart disease syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Short stature with webbed neck and congenital heart disease syndrome (disorder) | Finding site | Heart structure | true | Inferred relationship | Some | 2 | |
| Short stature with webbed neck and congenital heart disease syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Short stature with webbed neck and congenital heart disease syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Short stature with webbed neck and congenital heart disease syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| Short stature with webbed neck and congenital heart disease syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Short stature with webbed neck and congenital heart disease syndrome (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 4 | |
| Short stature with webbed neck and congenital heart disease syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 5 | |
| Short stature with webbed neck and congenital heart disease syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| Short stature with webbed neck and congenital heart disease syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 6 | |
| Short stature with webbed neck and congenital heart disease syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 6 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR