Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3760094010 | Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3760095011 | Hirschsprung disease, ganglioneuroblastoma syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3760096012 | A rare genetic developmental defect during embryogenesis syndrome with characteristics of total or partial colonic aganglionosis associated with peripheral usually multifocal, neuroblastic neoplasm (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction is occasionally associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4341521000052111 | syndrom med Hirschsprungs sjukdom och ganglioneuroblastom | sv | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) | Is a | Neoplastic disease | true | Inferred relationship | Some | ||
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) | Is a | Congenital anomaly of large intestine | true | Inferred relationship | Some | ||
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) | Is a | Genetic disease | true | Inferred relationship | Some | ||
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) | Finding site | Large intestine part | true | Inferred relationship | Some | 1 | |
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) | Finding site | Large intestine part | true | Inferred relationship | Some | 2 | |
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) | Associated morphology | Dilatation | true | Inferred relationship | Some | 1 | |
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) | Is a | Autonomic neuropathy | true | Inferred relationship | Some | ||
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) | Is a | Congenital dilatation of intestinal tract | true | Inferred relationship | Some | ||
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) | Associated morphology | Hypertrophy | true | Inferred relationship | Some | 2 | |
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) | Finding site | Autonomic nerve structure | true | Inferred relationship | Some | 4 | |
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) | Associated morphology | Neuroepitheliomatous neoplasm | true | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets