congenital disorder of glycosylation, type 2C

Preferred Label : congenital disorder of glycosylation, type 2C;

MeSH synonym : leukocyte adhesion deficiency, type 2; rambam hasharon syndrome; congenital disorder of glycosylation, type IIC; LAD2; leukocyte adhesion deficiency, type II; Rambam-Hasharon syndrome; CDG2C;

Details

Origin ID

C535755;

UMLS CUI

C0398739;

Automatic exact mappings (from CISMeF team)
- Leukocyte adhesion deficiency type II [PASCAL descriptor]
CISMeF manual mappings
- Leukocyte adhesion deficiency type II [ORDO Disease]
Currated CISMeF NLP mapping
- 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 2 [ICD-11 More detail]
- congenital disorder of glycosylation type IIc [DO Concept]
- leukocyte adhesion deficiency type 2 [Disease (Nov.)]
DO Cross reference
- congenital disorder of glycosylation type IIc [DO Concept]
MeSH term(s) associated for indexing
- congenital disorders of glycosylation [MeSH Descriptor]
Record concept(s)
- Congenital disorder of glycosylation, type 2C [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same 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 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]
- leukocyte adhesion deficiency type 2 [Disease (Nov.)]
Validated automatic mappings to NTBT
- leukocyte adhesion deficiency type 2 [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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