Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3314296017 | X-linked severe congenital neutropenia (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3314297014 | X-linked severe congenital neutropenia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 6177121000146112 | X-gebonden ernstige congenitale neutropenie | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6177131000146114 | X-gebonden ernstige congenitale neutropenie (aandoening) | nl | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3314318018 | This syndrome is an immunodeficiency syndrome with characteristics of recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked severe congenital neutropenia (disorder) | Is a | Congenital neutropenia | true | Inferred relationship | Some | ||
| X-linked severe congenital neutropenia (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked severe congenital neutropenia (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| X-linked severe congenital neutropenia (disorder) | Has definitional manifestation | Immune system finding | false | Inferred relationship | Some | ||
| X-linked severe congenital neutropenia (disorder) | Has definitional manifestation | Neutropenia | false | Inferred relationship | Some | ||
| X-linked severe congenital neutropenia (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 1 | |
| X-linked severe congenital neutropenia (disorder) | Interprets | Neutrophil count | true | Inferred relationship | Some | 1 | |
| X-linked severe congenital neutropenia (disorder) | Is a | Hereditary cancer-predisposing syndrome | true | Inferred relationship | Some | ||
| X-linked severe congenital neutropenia (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | false | Inferred relationship | Some | 3 | |
| X-linked severe congenital neutropenia (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| X-linked severe congenital neutropenia (disorder) | 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