X-Linked Agammaglobulinemia

Preferred Label : X-Linked Agammaglobulinemia;

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

NCIt definition : An X-linked recessive inherited immunodeficiency disorder caused by mutation of the BTK gene, which is located on the X chromosome. It almost always affects males. Individuals with this disorder have low numbers of B-cells and extremely low levels of all types of immunoglobulins. This results in susceptibility to recurrent infections, leading to organ damage.;

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_has_molecular_abnormality
- BTK Gene Mutation [NCIt concept]
disease_mapped_to_gene
- BTK Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- BTK Gene [NCIt concept]
- BTK wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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