Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3757816012 | Pancytopenia due to IKZF1 mutations | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3757817015 | Pancytopenia due to IKAROS family zinc finger 1 mutations (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3757818013 | Combined immunodeficiency due to IKAROS deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3757819017 | Pancytopenia due to IKAROS family zinc finger 1 mutations | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3757820011 | A rare syndrome with combined immunodeficiency with characteristics of a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells. There is evidence the disease is caused by heterozygous mutation in the IKZF1 gene on chromosome 7p12. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
14545681000172119 | pancytopénie due à des mutations du gène IKAROS à doigts de zinc 1 | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
14545691000172116 | pancytopénie due à des mutations du gène IKFZ1 (IKAROS family zinc finger 1) | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
4892371000172113 | pancytopenie door IKZF1-mutaties | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
4892381000172111 | pancytopenie door mutaties van IKAROS-'zinc finger'-proteïne 1 | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets