Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3757568013 | Onat syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3757569017 | Subaortic stenosis and short stature syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3757570016 | Subaortic stenosis and short stature syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3757571017 | A rare genetic multiple congenital anomalies/dysmorphic syndrome with the association of short stature and progressive discrete subaortic stenosis. Additional variable manifestations include upturned nose, voice and vocal cord abnormalities, obstructive lung disease, inguinal hernia, kyphoscoliosis and occasionally epicanthus, strabismus, microphthalmos and widely spaced teeth. There have been no further descriptions in the literature since 1984. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Subaortic stenosis and short stature syndrome | Is a | Congenital subaortic stenosis | true | Inferred relationship | Some | ||
Subaortic stenosis and short stature syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Subaortic stenosis and short stature syndrome | Is a | Short stature disorder | true | Inferred relationship | Some | ||
Subaortic stenosis and short stature syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Subaortic stenosis and short stature syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Subaortic stenosis and short stature syndrome | Finding site | Structure of subvalvular aortic region | true | Inferred relationship | Some | 1 | |
Subaortic stenosis and short stature syndrome | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Subaortic stenosis and short stature syndrome | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
Subaortic stenosis and short stature syndrome | Associated morphology | Stenosis | true | Inferred relationship | Some | 1 | |
Subaortic stenosis and short stature syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Subaortic stenosis and short stature syndrome | Interprets | Height / growth measure | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Cardiovascular finding reference set
Problem/Diagnosis reference set