Bare Lymphocyte Syndrome

Preferred Label : Bare Lymphocyte Syndrome;

NCIt definition : A hereditary immunodeficiency disorder caused by the lack of expression of major histocompatibility complex (MHC) proteins. Signs include upper and lower respiratory tract bacterial infections, malabsorption, diarrhea, and mucocutaneous candidiasis.;

Details

Origin ID

C3895;

UMLS CUI

C0242583;

Automatic exact mappings (from CISMeF team)
- Bare lymphocyte syndrome, type II [OMIM Phenotype]
- Major histocompatibility complex class I deficiency [ICD-10 Sub-category]
- Major histocompatibility complex class I deficiency [ICD-10 Sub-category (who)]
- scid due to absent class ii hla antigens [SNOMED Notion]
- severe combined immunodeficiency [MeSH Descriptor]
Currated CISMeF NLP mapping
- bare lymphocyte syndrome [Disease (Nov.)]
- bare lymphocyte syndrome [MeSH concept]
DO Cross reference
- MHC class II deficiency [DO Concept]
See also inter- (CISMeF)
- Severe combined immunodeficiency due to absent class II human leukocyte antigens (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- MHC class II deficiency [DO Concept]
- Severe combined immunodeficiency due to absent class II human leukocyte antigens (disorder) [SNOMED CT concept]
- bare lymphocyte syndrome [Disease (Nov.)]
- bare lymphocyte syndrome [MeSH concept]
- scid due to absent class ii hla antigens [SNOMED Notion]
Validated automatic mappings to BTNT
- Bare lymphocyte syndrome, type II [OMIM Phenotype]
disease_has_associated_gene
- TAP2 Gene [NCIt concept]
- TAP2 wt Allele [NCIt concept]
disease_may_have_associated_disease
- Lymphoproliferative Disease Associated with Primary Immune Disorder [NCIt concept]

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