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 |
| 3312944013 | Telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3312945014 | Telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3312946010 | TEMPI syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 7683991000146111 | TEMPI-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7940371000146113 | syndroom van teleangiëctasie, polycytemie, monoklonale gammopathie, perirenale vochtophoping en intrapulmonale shunting (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7940381000146110 | syndroom van teleangiëctasie, polycytemie, monoklonale gammopathie, perirenale vochtophoping en intrapulmonale shunting | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7940861000146111 | syndroom van telangiectasia, erytrocytose, monoklonale gammopathie, perinefritische vochtophoping en intrapulmonale shunting | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3312947018 | A rare multi-systemic disease with less than 10 cases described in literature. Manifests in mid-adulthood with the development of telangiectasia mostly on the face, trunk and arms, as well as with erythrocytosis that may cause a red facies and occasionally, headaches. The increased serum erythropoietin levels precede the intrapulmonary shunting. The intrapulmonary shunts cause hypoxia which slowly progresses until the person needs continuous supplemental oxygen. Blood clots, probably due to erythrocytosis, and bleeding in the brain have also been reported in some affected individuals. Monoclonal gammopathy and perinephric fluid collections are usually found incidentally and do not seem to cause any complications. The syndrome has a slow and regular progression. The cause of TEMPI syndrome is currently unknown. The abnormal plasma-cell clone and/or the monoclonal gammopathy are suggested to be triggers of the disease. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome (disorder) | Is a | Monoclonal gammopathy (clinical) | true | Inferred relationship | Some | ||
| Telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome (disorder) | Is a | Erythrocytosis | true | Inferred relationship | Some | ||
| Telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome (disorder) | Is a | Telangiectasia disorder | false | Inferred relationship | Some | ||
| Telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome (disorder) | Is a | multisysteemaandoening | false | Inferred relationship | Some | ||
| Telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome (disorder) | Finding site | Erythrocyte | true | Inferred relationship | Some | 4 | |
| Telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome (disorder) | Has definitional manifestation | Immune system finding | false | Inferred relationship | Some | ||
| Telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome (disorder) | Has definitional manifestation | Immunoglobulin above reference range (finding) | false | Inferred relationship | Some | ||
| Telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome (disorder) | Has definitional manifestation | Red blood cell count above reference range (finding) | false | Inferred relationship | Some | ||
| Telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome (disorder) | Has definitional manifestation | Serum gamma globulin above reference range | false | Inferred relationship | Some | ||
| Telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome (disorder) | Has definitional manifestation | Paraprotein detected (finding) | false | Inferred relationship | Some | ||
| Telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome (disorder) | Associated morphology | Telangiectasis | true | Inferred relationship | Some | 7 | |
| Telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome (disorder) | Finding site | Microscopic skin vascular structure | true | Inferred relationship | Some | 7 | |
| Telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome (disorder) | Has interpretation | Above reference range | true | Inferred relationship | Some | 1 | |
| Telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome (disorder) | Interprets | Serum globulin measurement | true | Inferred relationship | Some | 1 | |
| Telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome (disorder) | Interprets | Paraprotein measurement | true | Inferred relationship | Some | 5 | |
| Telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome (disorder) | Has interpretation | Present | false | Inferred relationship | Some | 5 | |
| Telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome (disorder) | Has interpretation | Above reference range | true | Inferred relationship | Some | 3 | |
| Telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome (disorder) | Interprets | Hematology procedure | true | Inferred relationship | Some | 6 | |
| Telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome (disorder) | Interprets | Immunoglobulin measurement | true | Inferred relationship | Some | 3 | |
| Telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome (disorder) | Interprets | Red blood cell count | true | Inferred relationship | Some | 2 | |
| Telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome (disorder) | Has interpretation | Above reference range | true | Inferred relationship | Some | 2 | |
| Telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 8 | |
| Telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome (disorder) | Is a | Telangiectasia of skin (disorder) | true | Inferred relationship | Some | ||
| Telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome (disorder) | Has interpretation | Detected | true | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR