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 |
| 3723689014 | Combined immunodeficiency due to mucosa-associated lymphoid tissue lymphoma translocation gene 1 deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3723690017 | Combined immunodeficiency due to mucosa-associated lymphoid tissue lymphoma translocation gene 1 deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3723691018 | Combined immunodeficiency due to MALT1 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3723692013 | A rare genetic form of primary immunodeficiency with characteristics of growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections. Caused by homozygous mutation in the MALT1 gene on chromosome 18q21. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 10674331000172116 | déficit immunitaire combiné par déficit en MALT1 (mucosa associated lymphoid tissue lymphoma translocation gene 1) | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 10674341000172111 | déficience immunitaire combinée due à un déficit en MALT1 (mucosa associated lymphoid tissue lymphoma translocation gene 1) | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 10674351000172113 | immunodéficience combinée due à un déficit en MALT1 (mucosa associated lymphoid tissue lymphoma translocation gene 1) | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 5011681000172119 | gecombineerde immunodeficiëntie door deficiëntie van 'mucosa-associated lymphoid tissue lymphoma translocation gene 1' | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 5011691000172116 | gecombineerde immuundeficiëntie door MALT1-deficiëntie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Combined immunodeficiency due to mucosa-associated lymphoid tissue lymphoma translocation gene 1 deficiency (disorder) | Is a | Combined immunodeficiency disease | true | Inferred relationship | Some | ||
| Combined immunodeficiency due to mucosa-associated lymphoid tissue lymphoma translocation gene 1 deficiency (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Combined immunodeficiency due to mucosa-associated lymphoid tissue lymphoma translocation gene 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