Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4650548012 | Combined immunodeficiency due to GINS1 (GINS complex subunit 1) deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4650550016 | Combined immunodeficiency due to GINS complex subunit 1 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4650551017 | Combined immunodeficiency due to GINS complex subunit 1 deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4650552012 | Combined immunodeficiency due to GINS1 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4650553019 | Combined immunodeficiency with intrauterine growth retardation, NK (natural killer) cell deficiency, neutropenia | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5168713016 | A rare syndrome with combined immunodeficiency and characteristics of intrauterine and postnatal growth retardation, chronic neutropenia, and natural killer (NK) cell deficiency due to a defect in DNA replication leading to blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells. Other clinical features include recurrent viral and bacterial infections and eczema along with mild facial dysmorphism. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Combined immunodeficiency due to GINS complex subunit 1 deficiency (disorder) | Is a | Combined immunodeficiency disease | true | Inferred relationship | Some | ||
| Combined immunodeficiency due to GINS complex subunit 1 deficiency (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Combined immunodeficiency due to GINS complex subunit 1 deficiency (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR