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 |
| 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 | Inactive | 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 | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402894019 | Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402895018 | Carney-Stratakis syndrome is a recently described familial syndrome characterised by gastrointestinal stromal tumours (GIST) and paragangliomas, often at multiple sites. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. | Is a | Disorder of sympathetic nervous system | true | Inferred relationship | Some | ||
| Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. | Is a | Neoplasm of uncertain behavior of nervous system | false | Inferred relationship | Some | ||
| Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. | Is a | Polyglandular dysfunction | true | Inferred relationship | Some | ||
| Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. | Is a | Paraganglioma | true | Inferred relationship | Some | ||
| Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. | Is a | Digestive system hereditary disorder | true | Inferred relationship | Some | ||
| Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. | Is a | Gastrointestinal stromal tumor (disorder) | true | Inferred relationship | Some | ||
| Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. | Is a | Hereditary cancer-predisposing syndrome | true | Inferred relationship | Some | ||
| Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. | Is a | Inherited autonomic nervous system disorder (disorder) | true | Inferred relationship | Some | ||
| Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. | Finding site | Structure of multiple endocrine glands | true | Inferred relationship | Some | 3 | |
| Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. | Associated morphology | gastrointestinal stromal tumor iht. kategori | false | Inferred relationship | Some | 3 | |
| Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. | Finding site | Oesophagus, stomach, small intestine and large intestine together as a single entity. | false | Inferred relationship | Some | 3 | |
| Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. | Associated morphology | Paraganglioma | false | Inferred relationship | Some | 4 | |
| Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. | Finding site | Sympathetic nervous system structure | false | Inferred relationship | Some | 4 | |
| Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. | Is a | Congenital disease | true | Inferred relationship | Some | ||
| Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. | Associated morphology | gastrointestinal stromal tumor iht. kategori | false | Inferred relationship | Some | 1 | |
| Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. | Finding site | Oesophagus, stomach, small intestine and large intestine together as a single entity. | true | Inferred relationship | Some | 1 | |
| Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. | Associated morphology | Paraganglioma | true | Inferred relationship | Some | 2 | |
| Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. | Finding site | Sympathetic nervous system structure | true | Inferred relationship | Some | 2 | |
| Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. | Is a | Neoplasm of gastrointestinal tract | false | Inferred relationship | Some | ||
| Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. | Associated morphology | Gastrointestinal stromal sarcoma | true | Inferred relationship | Some | 1 | |
| Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. | Is a | Primary malignant neoplasm of gastrointestinal tract | false | Inferred relationship | Some | ||
| Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. | Is a | Sarcoma (disorder) | true | Inferred relationship | Some | ||
| Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. | Is a | Malignant neoplasm of gastrointestinal tract (disorder) | true | Inferred relationship | Some | ||
| Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. | Is a | Disorder of digestive system specific to fetus OR newborn | true | Inferred relationship | Some | ||
| Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. | Is a | Neoplasm of uncertain behavior of autonomic nervous system (disorder) | true | Inferred relationship | Some | ||
| Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. | Is a | Subepithelial lesion of gastrointestinal tract | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR