Major histocompatibility complex class I deficiency

Preferred Label : Major histocompatibility complex class I deficiency;

Inclusion CIM-10 : Bare lymphocyte syndrome;

Rare : true;

Diag associé à un acte (%) : 50.0;

CMA : 2;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

D816;

UMLS CUI

C0451695;

Automatic exact mappings (from CISMeF team)
- Bare Lymphocyte Syndrome [NCIt concept]
- Mhc class II deficiency 1 [OMIM Phenotype]
- Severe combined immunodeficiency due to absent class II human leukocyte antigens (disorder) [SNOMED CT concept]
- bare lymphocyte syndrome [MeSH concept]
- severe combined immunodeficiency [MeSH Descriptor]
Currated CISMeF NLP mapping
- Immunodeficiency by defective expression of MHC class I [ORDO Disease]
- Immunodeficiency by defective expression of human leukocyte antigen class 1 (disorder) [SNOMED CT concept]
- MHC class I deficiency [DO Concept]
- Major histocompatibility complex class I deficiency [ICD-11 Sub-sub category]
- Major histocompatibility complex class I deficiency (disorder) [SNOMED CT concept]
- bare lymphocyte syndrome, type I [MeSH Supplementary Concept]
- bare lymphocyte syndrome, type I [MeSH concept]
DO Cross reference
- MHC class II deficiency [DO Concept]
Orphanet concepts
- Combined T and B cell immunodeficiency [ORDO Disease]
- Immunodeficiency by defective expression of MHC class I [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Major histocompatibility complex class I deficiency [ICD-11 Sub-sub category]
- Major histocompatibility complex class I deficiency [MedDRA LLT]
- Major histocompatibility complex class I deficiency (disorder) [SNOMED CT concept]

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