Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3755497013 | Multisystemic smooth muscle dysfunction syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3755498015 | Multisystemic smooth muscle dysfunction syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3755499011 | A rare genetic vascular disease with characteristics of congenital dysfunction of smooth muscle throughout the body, manifesting with cerebrovascular disease, aortic anomalies, intestinal hypoperistalsis, hypotonic bladder and pulmonary hypertension. Congenital mid-dilated pupils non-reactive to light associated with a large, persistent patent ductus arteriosus are characteristic hallmarks of the disease. There is evidence the disease is caused by heterozygous mutation in the ACTA2 gene on chromosome 10q23. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Multisystemic smooth muscle dysfunction syndrome | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Multisystemic smooth muscle dysfunction syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Multisystemic smooth muscle dysfunction syndrome | Is a | Disorder of smooth muscle | true | Inferred relationship | Some | ||
Multisystemic smooth muscle dysfunction syndrome | Is a | Patent ductus arteriosus | true | Inferred relationship | Some | ||
Multisystemic smooth muscle dysfunction syndrome | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
Multisystemic smooth muscle dysfunction syndrome | Is a | Fixed dilatation of pupil | true | Inferred relationship | Some | ||
Multisystemic smooth muscle dysfunction syndrome | Is a | Pupillary disorder | true | Inferred relationship | Some | ||
Multisystemic smooth muscle dysfunction syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Multisystemic smooth muscle dysfunction syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Multisystemic smooth muscle dysfunction syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Multisystemic smooth muscle dysfunction syndrome | Associated morphology | Persistent embryonic structure | true | Inferred relationship | Some | 1 | |
Multisystemic smooth muscle dysfunction syndrome | Finding site | Structure of ductus arteriosus | true | Inferred relationship | Some | 1 | |
Multisystemic smooth muscle dysfunction syndrome | Finding site | Pupil structure | true | Inferred relationship | Some | 2 | |
Multisystemic smooth muscle dysfunction syndrome | Finding site | Smooth muscle (organ) structure | true | Inferred relationship | Some | 3 | |
Multisystemic smooth muscle dysfunction syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Multisystemic smooth muscle dysfunction syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Multisystemic smooth muscle dysfunction syndrome | Is a | Anomaly of eye | true | Inferred relationship | Some | ||
Multisystemic smooth muscle dysfunction syndrome | Finding site | Pupil structure | true | Inferred relationship | Some | 4 | |
Multisystemic smooth muscle dysfunction syndrome | Associated morphology | Dilatation | true | Inferred relationship | Some | 4 |
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