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 |
5403319010 | A rare syndrome with combined immunodeficiency 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403320016 | A rare syndrome with combined immunodeficiency 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
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 |
5403319010 | A rare syndrome with combined immunodeficiency 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403320016 | A rare syndrome with combined immunodeficiency 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3454821001000113 | Lebervenen-Verschlusskrankheit - Immunschwäche | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
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 |
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 |
3454821001000113 | Lebervenen-Verschlusskrankheit - Immunschwäche | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)