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 |
| 3331745011 | Paraganglioma and gastric stromal sarcoma syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3331746012 | Carney Stratakis syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3331747015 | Paraganglioma and gastric stromal sarcoma syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3331748013 | Carney Stratakis dyad | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3331749017 | A familial syndrome characterized by gastrointestinal stromal tumors and paragangliomas, often at multiple sites. It is a very rare syndrome presenting at a young age. The gastric stromal sarcomas are multifocal and the paragangliomas are multicentric. The clinical spectrum of this syndrome varies widely, depending on the localization and the size of the tumors. The vast majority of cases are due to germline mutations of the succinate dehydrogenase (SDH) subunit genes SDHB, SDHC and SDHD. Predisposition to developing these tumors is inherited in an autosomal dominant manner with incomplete penetrance. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3331750017 | A familial syndrome characterised by gastrointestinal stromal tumours and paragangliomas, often at multiple sites. It is a very rare syndrome presenting at a young age. The gastric stromal sarcomas are multifocal and the paragangliomas are multicentric. The clinical spectrum of this syndrome varies widely, depending on the localisation and the size of the tumours. The vast majority of cases are due to germline mutations of the succinate dehydrogenase (SDH) subunit genes SDHB, SDHC and SDHD. Predisposition to developing these tumours is inherited in an autosomal dominant manner with incomplete penetrance. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Paraganglioma and gastric stromal sarcoma syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Paraganglioma and gastric stromal sarcoma syndrome (disorder) | Is a | Disorder of sympathetic nervous system (disorder) | true | Inferred relationship | Some | ||
| Paraganglioma and gastric stromal sarcoma syndrome (disorder) | Is a | Neoplasm of uncertain behavior of nervous system | true | Inferred relationship | Some | ||
| Paraganglioma and gastric stromal sarcoma syndrome (disorder) | Is a | Polyglandular dysfunction | true | Inferred relationship | Some | ||
| Paraganglioma and gastric stromal sarcoma syndrome (disorder) | Is a | Paraganglioma | true | Inferred relationship | Some | ||
| Paraganglioma and gastric stromal sarcoma syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Paraganglioma and gastric stromal sarcoma syndrome (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Paraganglioma and gastric stromal sarcoma syndrome (disorder) | Is a | Gastrointestinal stromal tumor (disorder) | true | Inferred relationship | Some | ||
| Paraganglioma and gastric stromal sarcoma syndrome (disorder) | Is a | Hereditary cancer-predisposing syndrome | true | Inferred relationship | Some | ||
| Paraganglioma and gastric stromal sarcoma syndrome (disorder) | Is a | Inherited autonomic nervous system disorder (disorder) | true | Inferred relationship | Some | ||
| Paraganglioma and gastric stromal sarcoma syndrome (disorder) | Finding site | Structure of multiple endocrine glands | true | Inferred relationship | Some | 3 | |
| Paraganglioma and gastric stromal sarcoma syndrome (disorder) | Associated morphology | Gastrointestinal stromal tumor - category | false | Inferred relationship | Some | 3 | |
| Paraganglioma and gastric stromal sarcoma syndrome (disorder) | Finding site | Gastrointestinal tract structure | false | Inferred relationship | Some | 3 | |
| Paraganglioma and gastric stromal sarcoma syndrome (disorder) | Associated morphology | Paraganglioma | false | Inferred relationship | Some | 4 | |
| Paraganglioma and gastric stromal sarcoma syndrome (disorder) | Finding site | Sympathetic nervous system structure | false | Inferred relationship | Some | 4 | |
| Paraganglioma and gastric stromal sarcoma syndrome (disorder) | Is a | Congenital disease (disorder) | true | Inferred relationship | Some | ||
| Paraganglioma and gastric stromal sarcoma syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Paraganglioma and gastric stromal sarcoma syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Paraganglioma and gastric stromal sarcoma syndrome (disorder) | Associated morphology | Gastrointestinal stromal tumor - category | false | Inferred relationship | Some | 1 | |
| Paraganglioma and gastric stromal sarcoma syndrome (disorder) | Finding site | Gastrointestinal tract structure | true | Inferred relationship | Some | 1 | |
| Paraganglioma and gastric stromal sarcoma syndrome (disorder) | Associated morphology | Paraganglioma | true | Inferred relationship | Some | 2 | |
| Paraganglioma and gastric stromal sarcoma syndrome (disorder) | Finding site | Sympathetic nervous system structure | true | Inferred relationship | Some | 2 | |
| Paraganglioma and gastric stromal sarcoma syndrome (disorder) | Is a | Neoplasm of gastrointestinal tract | false | Inferred relationship | Some | ||
| Paraganglioma and gastric stromal sarcoma syndrome (disorder) | Associated morphology | Gastrointestinal stromal sarcoma | true | Inferred relationship | Some | 1 | |
| Paraganglioma and gastric stromal sarcoma syndrome (disorder) | Is a | Primary malignant neoplasm of gastrointestinal tract | false | Inferred relationship | Some | ||
| Paraganglioma and gastric stromal sarcoma syndrome (disorder) | Is a | Sarcoma (disorder) | true | Inferred relationship | Some | ||
| Paraganglioma and gastric stromal sarcoma syndrome (disorder) | Is a | Malignant neoplasm of gastrointestinal tract (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR