Leukocyte Adhesion Deficiency Type 2

Preferred Label : Leukocyte Adhesion Deficiency Type 2;

NCIt synonyms : LAD-Type II; Sialyl-Lewis X Defect; CDGIIc; Congenital Disorder of Glycosylation Type IIc;

NCIt definition : Leukocyte Adhesion Deficiency, Type II. An inherited disease affecting the metabolism of fucose, which affects the expression of the sialyl Lewis X antigen, the fucose-containing ligand for E- and P-selectins, resulting in a deficiency in neutrophil adhesion. SYN Sialyl-Lewis X defect.;

Détails

Origin ID

C4690;

UMLS CUI

C0398739;

Currated CISMeF NLP mapping
- Congenital disorder of glycosylation, type 2C [MeSH concept]
- Congenital disorder of glycosylation, type iic [OMIM Phenotype]
- Leukocyte adhesion deficiency - type 2 (disorder) [SNOMED CT concept]
- Leukocyte adhesion deficiency type 2 [ICD-11 More detail]
- Leukocyte adhesion deficiency type II [ORDO Disease]
- congenital disorder of glycosylation type IIc [DO Concept]
- congenital disorder of glycosylation, type 2C [MeSH Supplementary Concept]
- leukocyte adhesion deficiency type 2 [Disease (Nov.)]
DO Cross reference
- congenital disorder of glycosylation type IIc [DO Concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital disorder of glycosylation, type 2C [MeSH concept]
- Congenital disorder of glycosylation, type iic [OMIM Phenotype]
- Leukocyte adhesion deficiency - type 2 (disorder) [SNOMED CT concept]
- Leukocyte adhesion deficiency type 2 [ICD-11 More detail]
- Leukocyte adhesion deficiency type II [ORDO Disease]
- Leukocyte adhesion deficiency type II [MedDRA LLT]
- congenital disorder of glycosylation type IIc [DO Concept]
- congenital disorder of glycosylation, type 2C [MeSH Supplementary Concept]
- leukocyte adhesion deficiency type 2 [Disease (Nov.)]
disease_has_associated_gene
- SELE Gene [NCIt concept]
- SELE wt Allele [NCIt concept]
disease_has_finding
- Rare Lesion [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]
- Immune System [NCIt concept]
disease_mapped_to_gene
- SLC35C1 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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