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 |
| 3424634010 | Neutrophil immunodeficiency syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3424635011 | Neutrophil immunodeficiency syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 759431000241117 | syndrome d'immunodéficience neutrophile (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 940701000172114 | syndrome d'immunodéficience neutrophile | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3424643018 | A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas. The disease is due to a point dominant negative mutation in the RAC2 gene causing decreased Rac2 protein expression and a defect in a signaling pathway controlling shape change/motility of neutrophils as well as assembly and activation of NADPH oxidase. The mode of transmission is unknown. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3424644012 | A primary immunodeficiency characterised by neutrophilia with severe neutrophil dysfunction, leucocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas. The disease is due to a point dominant negative mutation in the RAC2 gene causing decreased Rac2 protein expression and a defect in a signalling pathway controlling shape change/motility of neutrophils as well as assembly and activation of NADPH oxidase. The mode of transmission is unknown. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Neutrophil immunodeficiency syndrome (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 2 | |
| Neutrophil immunodeficiency syndrome (disorder) | Due to | anomalie chromosomique | true | Inferred relationship | Some | 1 | |
| Neutrophil immunodeficiency syndrome (disorder) | est un(e) (attribut) | Immunodeficiency associated with chromosomal abnormality | true | Inferred relationship | Some | ||
| Neutrophil immunodeficiency syndrome (disorder) | est un(e) (attribut) | Heritable disorder of neutrophil function (disorder) | true | Inferred relationship | Some | ||
| Neutrophil immunodeficiency syndrome (disorder) | localisation d'une constatation (attribut) | structure d'un système corporel | true | Inferred relationship | Some | 3 | |
| Neutrophil immunodeficiency syndrome (disorder) | est défini par la manifestation de (attribut) | Immune system finding | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR