X-Linked Agammaglobulinemia

Preferred Label : X-Linked Agammaglobulinemia;

NCIt synonyms : Bruton's X-Linked Agammaglobulinemia; Bruton's Sex-Linked Agammaglobulinemia;

NCIt definition : X-linked agammaglobulinemia. An immunodeficiency state characterized (usually) by profoundly low concentrations of serum immunoglobulins of all classes, although occasionally significant amounts of one or more isotypes can be found. The fundamental defect in XLA affects early lineage B cells.;

Details

Origin ID

C3822;

UMLS CUI

C0221026;

Automatic exact mappings (from CISMeF team)
- agammaglobulinemia [MeSH Descriptor]
Currated CISMeF NLP mapping
- Agammaglobulinemia, X-linked [OMIM Phenotype]
- Bruton type agammaglobulinemia [MeSH concept]
- Bruton's agammaglobulinaemia [MedDRA Preferred Term]
- Bruton's agammaglobulinemia [MedDRA LLT]
- Bruton's agammaglobulinemia [PASCAL descriptor]
- X-linked agammaglobulinaemia [ICD-11 More detail]
- X-linked agammaglobulinemia [DO Concept]
- X-linked agammaglobulinemia [MedDRA LLT]
- X-linked agammaglobulinemia [ORDO Disease]
- X-linked agammaglobulinemia (disorder) [SNOMED CT concept]
- bruton type agammaglobulinemia [MeSH Supplementary Concept]
- x linked agammaglobulinemia [Disease (Nov.)]
- x-linked agammaglobulinemia [SNOMED Notion]
DO Cross reference
- X-linked agammaglobulinemia [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Agammaglobulinemia, X-linked [OMIM Phenotype]
- Bruton type agammaglobulinemia [MeSH concept]
- Bruton's agammaglobulinaemia [MedDRA Preferred Term]
- Bruton's agammaglobulinemia [MedDRA LLT]
- Bruton's agammaglobulinemia [PASCAL descriptor]
- Congenital agammaglobulinaemia [MedDRA LLT]
- Congenital agammaglobulinemia [MedDRA LLT]
- Congenital agammaglobulinemia (disorder) [SNOMED CT concept]
- X-linked agammaglobulinaemia [ICD-11 More detail]
- X-linked agammaglobulinaemia [MedDRA LLT]
- X-linked agammaglobulinemia [ORDO Disease]
- X-linked agammaglobulinemia [DO Concept]
- X-linked agammaglobulinemia [MedDRA LLT]
- X-linked agammaglobulinemia (disorder) [SNOMED CT concept]
- bruton type agammaglobulinemia [MeSH Supplementary Concept]
- congenital agammaglobulinemia [Radlex concept]
- x linked agammaglobulinemia [Disease (Nov.)]
- x-linked agammaglobulinemia [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_mapped_to_gene
- BTK Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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