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 |
3331146016 | Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3331148015 | Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3331149011 | Yorifuji Okuno syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3936291000052110 | syndrom med pankreashypoplasi, diabetes mellitus och medfödd hjärtsjukdom | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) | Is a | Congenital heart disease | true | Inferred relationship | Some | ||
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) | Is a | Congenital hypoplasia of pancreas | true | Inferred relationship | Some | ||
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) | Is a | Diabetes mellitus | true | Inferred relationship | Some | ||
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) | Finding site | Structure of endocrine system (body structure) | false | Inferred relationship | Some | ||
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) | Associated morphology | utvecklingsabnormitet | false | Inferred relationship | Some | 3 | |
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) | Finding site | Heart structure | false | Inferred relationship | Some | 3 | |
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) | Associated morphology | kongenital partiell hypoplasi | false | Inferred relationship | Some | 4 | |
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) | Finding site | Pancreatic structure | false | Inferred relationship | Some | 4 | |
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) | Finding site | Structure of endocrine system (body structure) | false | Inferred relationship | Some | 1 | |
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 3 | |
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) | Finding site | Heart structure | true | Inferred relationship | Some | 1 | |
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) | Finding site | Structure of endocrine system (body structure) | false | Inferred relationship | Some | 3 | |
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 2 | |
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) | Finding site | Pancreas part | true | Inferred relationship | Some | 2 | |
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets