Leukocyte adhesion deficiency type 2

Preferred Label : Leukocyte adhesion deficiency type 2;

ICD-11 definition : Leukocyte adhesion deficiency type II (LAD-II) is a primary immune dieficiency that belongs to the group of leukocyte adhesion deficiencies characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit.;

ICD-11 synonym : Rambam-Hasharon syndrome; CDG syndrome type 2C; CDG - [Congenital disorder of glycosylation] syndrome type 2C; GDP-fucose transporter deficiency; LAD-II - [Leukocyte adhesion deficiency type 2];

ICD-11 acronym : LAD-II;

Details

Origin ID

362744928;

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 [NCIt concept]
- Leukocyte adhesion deficiency - type 2 (disorder) [SNOMED CT concept]
- 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.)]
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 [NCIt concept]
- Leukocyte adhesion deficiency - type 2 (disorder) [SNOMED CT concept]
- 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.)]

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