bruton type agammaglobulinemia

Preferred Label : bruton type agammaglobulinemia;

MeSH note : Mutations in Agammaglobulinaemia tyrosine kinase can cause X-linked AGAMMAGLOBULINEMIA type 1 (XLA); PROM; mutation in Bruton tyrosine kinase; Agmx1, Imd1 not included;

MeSH synonym : agammaglobulinemia, BTK; X-linked agammaglobulinemia; agammaglobulinemia, bruton tyrosine kinase; bruton-type (congenital X-linked) agammaglobulinemia; immunodeficiency 1; agammaglobulinemia, X-Linked; agammaglobulinemia, X-Linked, type I; Bruton-Type agammaglobulinemia; congenital agammaglobulinemia; bruton's agammaglobulinemia;

Details

Origin ID

C537409;

UMLS CUI

C0221026;

Automatic exact mappings (from CISMeF team)
- Bruton agammaglobulinemia tyrosine kinase [OMIM gene]
Currated CISMeF NLP mapping
- Agammaglobulinemia, X-linked [OMIM Phenotype]
- Bruton's agammaglobulinaemia [MedDRA Preferred Term]
- Bruton's agammaglobulinemia [PASCAL descriptor]
- Bruton's agammaglobulinemia [MedDRA LLT]
- X-Linked Agammaglobulinemia [NCIt concept]
- X-linked agammaglobulinaemia [ICD-11 More detail]
- X-linked agammaglobulinemia [DO Concept]
- X-linked agammaglobulinemia [ORDO Disease]
- X-linked agammaglobulinemia (disorder) [SNOMED CT concept]
- x linked agammaglobulinemia [Disease (Nov.)]
- x-linked agammaglobulinemia [SNOMED Notion]
DO Cross reference
- X-linked agammaglobulinemia [DO Concept]
MeSH term(s) associated for indexing
- agammaglobulinemia [MeSH Descriptor]
- genetic diseases, X-linked [MeSH Descriptor]
ORDO relation(s)
- X-linked agammaglobulinemia [ORDO Disease]
Record concept(s)
- Bruton type agammaglobulinemia [MeSH concept]
See also (suggested by CISMeF)
- Agammaglobulinaemia Tyrosine Kinase [MeSH Descriptor]
See also inter- (CISMeF)
- Bruton tyrosine kinase [ORDO Gene]
- Congenital agammaglobulinaemia [MedDRA LLT]
- Congenital agammaglobulinemia [MedDRA LLT]
- Congenital agammaglobulinemia (disorder) [SNOMED CT concept]
- congenital agammaglobulinemia [Radlex concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Agammaglobulinemia, X-linked [OMIM Phenotype]
- 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 Agammaglobulinemia [NCIt 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]
- congenital agammaglobulinemia [Radlex concept]
- x linked agammaglobulinemia [Disease (Nov.)]
- x-linked agammaglobulinemia [SNOMED Notion]

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