leukocyte-adhesion deficiency syndrome

Preferred Label : leukocyte-adhesion deficiency syndrome;

MeSH definition : Rare, autosomal recessive disorder caused by deficiency of the beta 2 integrin receptors (RECEPTORS, LEUKOCYTE-ADHESION) comprising the CD11/CD18 family of glycoproteins. The syndrome is characterized by abnormal adhesion-dependent functions, especially defective tissue emigration of neutrophils, leading to recurrent infection.;

MeSH synonym : deficiency syndrome, leukocyte-adhesion; deficiency syndrome, leukocyte adhesion; leukocyte-adhesion deficiency syndromes; leukocyte adhesion deficiency syndrome;

CISMeF synonym : deficiency syndromes, leukocyte-adhesion; syndrome, leukocyte-adhesion deficiency; syndromes, leukocyte-adhesion deficiency;

MeSH annotation : an immunol defic syndrome; DF: LEUKOCYTE ADHESION DEFIC SYNDROME;

Wikipedia link : https://en.wikipedia.org/wiki/Leukocyte-adhesion deficiency syndrome;

Details

Origin ID

D018370;

UMLS CUI

C0242597;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Entire anterior descending branch of left coronary artery (body structure) [SNOMED CT concept]
- ITGB2 wt Allele [NCIt concept]
- Ladino Language [NCIt concept]
Currated CISMeF NLP mapping
- Congenital leukocyte adherence deficiency (disorder) [SNOMED CT concept]
- Leukocyte Adhesion Deficiency [NCIt concept]
- Leukocyte adhesion deficiency [ICD-11 More detail]
- Leukocyte adhesion deficiency [PASCAL descriptor]
- Leukocyte adhesion deficiency [ORDO Disease]
- Leukocyte adhesion deficiency, type I [OMIM Phenotype]
- congenital leukocyte adherence deficiency [SNOMED Notion]
- leukocyte adhesion deficiency [DO Concept]
- leukocyte adhesion deficiency syndrome [Disease (Nov.)]
DO Cross reference
- leukocyte adhesion deficiency [DO Concept]
False automatic mappings
- dispensation assistance software [EFMI term]
Manual BTNT mappings - CISMeF
- Leukocyte adhesion deficiency type I [ORDO Disease]
- Leukocyte adhesion deficiency type II [ORDO Disease]
- Leukocyte adhesion deficiency type III [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Functional neutrophil defect [ORDO Disease]
MeSH Descriptor(s) used for indexing
- CD18 Antigens [MeSH Descriptor]
ORDO relation(s)
- Leukocyte adhesion deficiency [ORDO Disease]
Record concept(s)
- Leukocyte-Adhesion deficiency syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- leukocyte adhesion deficiency type 1 [MeSH Supplementary Concept]
- leukocyte adhesion deficiency, type III [MeSH Supplementary Concept]
See also
- CD18 Antigens [MeSH Descriptor]
- receptors, leukocyte-adhesion [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- leukocyte adhesion deficiency [DO Concept]
Validated automatic mappings to BTNT
- Leukocyte adhesion deficiency - type 1 (disorder) [SNOMED CT concept]
- Leukocyte adhesion deficiency type 1 [ICD-11 More detail]

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