Leukocyte Adhesion Deficiency Type 3

Preferred Label : Leukocyte Adhesion Deficiency Type 3;

NCIt synonyms : LAD-3; LAD-III;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the FERMT3 gene, encoding fermitin family homolog 3. It is characterized by a defect in activation of all beta integrins. It manifests clinically as severe infections with marked leukocytosis, accompanied by life-threatening bleeding episodes.;

NCI Metathesaurus CUI : CL555504;

Details

Origin ID

C154615;

UMLS CUI

C2748536;

Currated CISMeF NLP mapping
- Leukocyte adhesion deficiency type 3 [ICD-11 More detail]
- Leukocyte adhesion deficiency type 3 (disorder) [SNOMED CT concept]
- Leukocyte adhesion deficiency type III [ORDO Disease]
- Leukocyte adhesion deficiency, type III [OMIM Phenotype]
- leukocyte adhesion deficiency 3 [DO Concept]
- leukocyte adhesion deficiency type 3 [Disease (Nov.)]
- leukocyte adhesion deficiency, type III [MeSH Supplementary Concept]
- leukocyte adhesion deficiency, type III [MeSH concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leukocyte adhesion deficiency type 3 (disorder) [SNOMED CT concept]
- Leukocyte adhesion deficiency, type III [OMIM Phenotype]
- leukocyte adhesion deficiency type 3 [Disease (Nov.)]
- leukocyte adhesion deficiency, type III [MeSH Supplementary Concept]
- leukocyte adhesion deficiency, type III [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [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]
disease_mapped_to_gene
- FERMT3 Gene [NCIt concept]
related_to_genetic_biomarker
- FERMT3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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