Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jan 2024. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5289339018 | Autosomal recessive agammaglobulinemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5289340016 | Autosomal recessive agammaglobulinaemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5289341017 | Autosomal recessive agammaglobulinemia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5289345014 | A rare form of agammaglobulinemia, a primary immunodeficiency disease, characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea. Caused by homozygous or compound heterozygous mutation in the mu heavy-chain gene (IGHM) on chromosome 14q32. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5289346010 | A rare form of agammaglobulinaemia, a primary immunodeficiency disease, characterised by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhoea. Caused by homozygous or compound heterozygous mutation in the mu heavy-chain gene (IGHM) on chromosome 14q32. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive agammaglobulinemia | Is a | Isolated agammaglobulinaemia | true | Inferred relationship | Some | ||
| Autosomal recessive agammaglobulinemia | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive agammaglobulinemia | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Autosomal recessive agammaglobulinemia | Finding site | Structure of immune system (body structure) | true | Inferred relationship | Some | 1 | |
| Autosomal recessive agammaglobulinemia | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR