Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3434639011 | Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3434640013 | Hepatic veno-occlusive disease with immunodeficiency syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3434641012 | VODI (veno-occlusive disease, immunodeficiency) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3434642017 | VODI syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3434643010 | Syndrome that is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease. Mutations in the gene coding PML nuclear body protein Sp110 on chromosome 2q37 were found to be responsible for this association. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3434644016 | Syndrome that is characterised by the association of severe hypogammaglobulinaemia, combined T and B cell immunodeficiency, absent lymph node germinal centres, absent tissue plasma cells and hepatic veno-occlusive disease. Mutations in the gene coding PML nuclear body protein Sp110 on chromosome 2q37 were found to be responsible for this association. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 999041000172110 | syndrome de maladie veino-occlusive hépatique-immunodéficience | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder) | Is a | Veno-occlusive disease of the liver | true | Inferred relationship | Some | ||
| Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder) | Is a | Autosomal recessive severe combined immunodeficiency disease (disorder) | true | Inferred relationship | Some | ||
| Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder) | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder) | Is a | Congenital vascular disorder (disorder) | false | Inferred relationship | Some | ||
| Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder) | Has definitional manifestation | Immune system finding | false | Inferred relationship | Some | ||
| Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder) | Associated morphology | Obstruction | false | Inferred relationship | Some | 3 | |
| Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder) | Finding site | Structure of hepatic vein | false | Inferred relationship | Some | 3 | |
| Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 2 | |
| Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder) | Is a | Severe combined immunodeficiency with low T- and B-cell numbers | true | Inferred relationship | Some | ||
| Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder) | Finding site | Structure of immune system (body structure) | true | Inferred relationship | Some | 2 | |
| Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder) | Finding site | Structure of hepatic vein | true | Inferred relationship | Some | 1 | |
| Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder) | Associated morphology | Obstruction | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR