Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3655378010 | The non-syndromic form of a primary immunodeficiency disease characterised by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy. Two forms have been described: X-linked represents approximately 85% of the affected patients, and autosomal which includes recessive and dominant cases but is far less frequent. The clinical signs of the two forms are very similar and include recurrent bacterial infections, diarrhoea and skin infections with onset in infancy. Defects in B lymphocyte development and maturation appear to underlie agammaglobulinaemia. Mutations in seven genes have been reported to be related to IA: BTK (Xq21.33-q22), BLNK (10q23.2-q23.33), CD79A (19q13.2), CD79B (17q23), IGHM(14q32.33), IGLL1 (22q11.23), PIK3R1 (5q13.1) and TCF3 (19p13.3). | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3655379019 | The non-syndromic form of a primary immunodeficiency disease characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy. Two forms have been described: X-linked represents approximately 85% of the affected patients, and autosomal which includes recessive and dominant cases but is far less frequent. The clinical signs of the two forms are very similar and include recurrent bacterial infections, diarrhea and skin infections with onset in infancy. Defects in B lymphocyte development and maturation appear to underlie agammaglobulinemia. Mutations in seven genes have been reported to be related to IA: BTK (Xq21.33-q22), BLNK (10q23.2-q23.33), CD79A (19q13.2), CD79B (17q23), IGHM(14q32.33), IGLL1 (22q11.23), PIK3R1 (5q13.1) and TCF3 (19p13.3). | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5404396014 | Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5404397017 | Isolated agammaglobulinaemia (IA) is the non-syndromic form of agammaglobulinaemia, a primary immunodeficiency disease, and is characterised by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3655363015 | Isolated agammaglobulinaemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3655364014 | Isolated agammaglobulinemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3655365010 | Isolated agammaglobulinemia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy. | Is a | Congenital agammaglobulinemia | true | Inferred relationship | Some | ||
| Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy. | Is a | Hereditary disorder of immune system | false | Inferred relationship | Some | ||
| Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy. | Is a | Disorder of immune structure (disorder) | false | Inferred relationship | Some | ||
| Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy. | Finding site | Structure of immune system (body structure) | false | Inferred relationship | Some | 1 | |
| Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy. | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 2 | |
| Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy. | Is a | Primary immune deficiency disorder | true | Inferred relationship | Some | ||
| Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy. | Pathological process (attribute) | Abnormal immune process (qualifier value) | false | Inferred relationship | Some | 1 | |
| Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy. | Is a | Hereditary disease | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| X-linked agammaglobulinemia | Is a | True | Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy. | Inferred relationship | Some | |
| Autosomal recessive agammaglobulinemia | Is a | True | Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy. | Inferred relationship | Some | |
| Autosomal dominant agammaglobulinaemia due to E47 transcription factor deficiency | Is a | True | Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy. | Inferred relationship | Some |
Reference Sets
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Description inactivation indicator reference set
FHIR