Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3331146016 | Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3331148015 | Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3331149011 | Yorifuji Okuno syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3331150011 | This syndrome has characteristics of partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis). It has been described in one Japanese family, in which the mother and at least two of her four children were affected (another two children died shortly after birth). The syndrome appears to be inherited as an autosomal dominant trait. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome | Pathological process | Pathological developmental process | false | Inferred relationship | Some | 3 | |
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome | Finding site | Structure of heart | true | Inferred relationship | Some | 1 | |
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome | Finding site | Structure of endocrine system | false | Inferred relationship | Some | 3 | |
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 2 | |
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome | Finding site | Pancreas part | true | Inferred relationship | Some | 2 | |
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome | Is a | Congenital heart disease | true | Inferred relationship | Some | ||
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome | Is a | Congenital hypoplasia of pancreas | true | Inferred relationship | Some | ||
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome | Is a | Diabetes mellitus | true | Inferred relationship | Some | ||
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome | Is a | Digestive system hereditary disorder | true | Inferred relationship | Some | ||
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome | Is a | Hereditary disorder of endocrine system | true | Inferred relationship | Some | ||
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome | Finding site | Structure of endocrine system | false | Inferred relationship | Some | ||
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 3 | |
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome | Finding site | Structure of heart | false | Inferred relationship | Some | 3 | |
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome | Associated morphology | Congenital partial hypoplasia | false | Inferred relationship | Some | 4 | |
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome | Finding site | Pancreatic structure | false | Inferred relationship | Some | 4 | |
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome | Finding site | Structure of endocrine system | false | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Queensland allied health clinical finding reference set
Clinical finding foundation reference set
Cardiovascular finding reference set
Problem/Diagnosis reference set
Description inactivation indicator reference set