Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3737279012 | A rare genetic primary immunodeficiency disorder with characteristics of profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dendritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developing myeloid neoplasms is associated. Caused by heterozygous mutation in the GATA2 gene on chromosome 3q21. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3737272015 | Monocyte-B natural killer dendritic cell deficiency syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3737273013 | Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infection | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3737274019 | Monocytopenia and mycobacterial infection syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3737275018 | Dendritic cell, monocyte, B and NK lymphoid deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3737276017 | MonoMAC | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3737277014 | Monocytopenia with susceptibility to infections | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3737278016 | Monocytopenia with susceptibility to infections (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| A rare genetic primary immunodeficiency disorder with characteristics of profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dendritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developing myeloid neoplasms is associated. Caused by heterozygous mutation in the GATA2 gene on chromosome 3q21. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| A rare genetic primary immunodeficiency disorder with characteristics of profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dendritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developing myeloid neoplasms is associated. Caused by heterozygous mutation in the GATA2 gene on chromosome 3q21. | Is a | Congenital immunodeficiency disease | true | Inferred relationship | Some | ||
| A rare genetic primary immunodeficiency disorder with characteristics of profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dendritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developing myeloid neoplasms is associated. Caused by heterozygous mutation in the GATA2 gene on chromosome 3q21. | Finding site | Structure of immune system (body structure) | true | Inferred relationship | Some | 1 | |
| A rare genetic primary immunodeficiency disorder with characteristics of profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dendritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developing myeloid neoplasms is associated. Caused by heterozygous mutation in the GATA2 gene on chromosome 3q21. | Is a | Combined phagocytic defect | true | Inferred relationship | Some | ||
| A rare genetic primary immunodeficiency disorder with characteristics of profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dendritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developing myeloid neoplasms is associated. Caused by heterozygous mutation in the GATA2 gene on chromosome 3q21. | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR