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 |
| 3703544011 | Severe congenital neutropenia type 3 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3703545012 | Kostmann syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3703546013 | Kostmann syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3703547016 | Severe congenital neutropaenia type 3 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3703548014 | A rare severe congenital neutropenia disorder with characteristics of lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (for example otitis media, pneumonia, sinusitis, urinary tract infections, abscess of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy have been reported in some patients. Caused by homozygous or compound heterozygous mutation in the HAX1 gene on chromosome 1q21. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4216131000052114 | Kostmanns syndrom | sv | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Kostmann syndrome (disorder) | Is a | Congenital neutropenia | true | Inferred relationship | Some | ||
| Kostmann syndrome (disorder) | Interprets | Neutrophil count | true | Inferred relationship | Some | 1 | |
| Kostmann syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Kostmann syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Kostmann syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 1 | |
| Kostmann syndrome (disorder) | Is a | Hereditary cancer-predisposing syndrome | true | Inferred relationship | Some | ||
| Kostmann syndrome (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Medical conditions, alert information reference set (foundation metadata concept)
FHIR