Leukocyte Adhesion Deficiency

Preferred Label : Leukocyte Adhesion Deficiency;

NCIt definition : A rare autosomal recessive immunodeficiency disorder caused by deficiency of CD18 expression. It is characterized by defects in neutrophil adhesion and bacterial infections.;

Details

Origin ID

C27874;

UMLS CUI

C0272187;

Currated CISMeF NLP mapping
- Congenital leukocyte adherence deficiency (disorder) [SNOMED CT concept]
- Leukocyte adhesion deficiency [ICD-11 More detail]
- Leukocyte adhesion deficiency [PASCAL descriptor]
- Leukocyte adhesion deficiency [ORDO Disease]
- Leukocyte adhesion deficiency (disorder) [SNOMED CT concept]
- Leukocyte adhesion deficiency, type I [OMIM Phenotype]
- Leukocyte-Adhesion deficiency syndrome [MeSH concept]
- congenital leukocyte adherence deficiency [SNOMED Notion]
- leukocyte adhesion deficiency [DO Concept]
- leukocyte adhesion deficiency syndrome [Disease (Nov.)]
- leukocyte-adhesion deficiency syndrome [MeSH Descriptor]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital leukocyte adherence deficiency (disorder) [SNOMED CT concept]
- Leukocyte adhesion deficiency [MedDRA Preferred Term]
- congenital leukocyte adherence deficiency [SNOMED Notion]
Validated automatic mappings to BTNT
- Leukocyte adhesion deficiency - type 1 (disorder) [SNOMED CT concept]
- Leukocyte adhesion deficiency type 1 [ICD-11 More detail]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_associated_gene
- ITGB2 Gene [NCIt concept]
- ITGB2 wt Allele [NCIt concept]
disease_has_normal_cell_origin
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Hematopoietic and Lymphatic System [NCIt concept]

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