Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Aug 2025. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5471334016 | Congenital neutropenia, combined immunodeficiency due to MKL1 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5471335015 | Congenital neutropenia, combined immunodeficiency due to megakaryoblastic leukemia 1 deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5471336019 | Congenital neutropenia-CID (combined immunodeficiency) due to MKL1 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5471337011 | Congenital neutropenia, combined immunodeficiency due to MKL1 deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5471338018 | Congenital neutropenia, combined immunodeficiency due to megakaryoblastic leukaemia 1 deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5471339014 | MKL1-related neutrophil motility defect | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5471340011 | A rare primary immunodeficiency due to a defect in innate immunity characterized by infantile-onset severe, recurrent bacterial infections. Patients may present with septic shock, meningitis, progressive and severe pneumonia (mostly associated with Pseudomonas infection), malignant otitis media, cutaneous and subcutaneous abscesses and poor wound healing. Severe impairment in neutrophil phagocytosis/migration are reported in all patients. Mild thrombocytopenia can also be present. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5471341010 | A rare primary immunodeficiency due to a defect in innate immunity characterised by infantile-onset severe, recurrent bacterial infections. Patients may present with septic shock, meningitis, progressive and severe pneumonia (mostly associated with Pseudomonas infection), malignant otitis media, cutaneous and subcutaneous abscesses and poor wound healing. Severe impairment in neutrophil phagocytosis/migration are reported in all patients. Mild thrombocytopenia can also be present. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital neutropenia, combined immunodeficiency due to MKL1 deficiency | Is a | Combined immunodeficiency disease | true | Inferred relationship | Some | ||
| Congenital neutropenia, combined immunodeficiency due to MKL1 deficiency | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Congenital neutropenia, combined immunodeficiency due to MKL1 deficiency | Is a | Congenital neutropenia | true | Inferred relationship | Some | ||
| Congenital neutropenia, combined immunodeficiency due to MKL1 deficiency | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Congenital neutropenia, combined immunodeficiency due to MKL1 deficiency | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 3 | |
| Congenital neutropenia, combined immunodeficiency due to MKL1 deficiency | Interprets | Neutrophil count | true | Inferred relationship | Some | 1 | |
| Congenital neutropenia, combined immunodeficiency due to MKL1 deficiency | Has interpretation | Below reference range | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR