congenital disorder of glycosylation type 1A

Preferred Label : congenital disorder of glycosylation type 1A;

MeSH synonym : phosphomannomutase 2 deficiency; carbohydrate-deficient glycoprotein syndrome type 1A; jaeken syndrome; congenital disorder of glycosylation, type ia; Carbohydrate-Deficient glycoprotein syndrome type ia; congenital disorder of glycosylation type ia; Pmm2-CDG; PMM2 deficiency;

Details

Origin ID

C535739;

UMLS CUI

C0349653;

Currated CISMeF NLP mapping
- Congenital Disorder of Glycosylation Type Ia [NCIt concept]
- Congenital disorder of glycosylation type Ia (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation, type ia [OMIM Phenotype]
- Deficiency of phosphomannomutase 2 (disorder) [SNOMED CT concept]
- PMM2-CDG [ORDO Disease]
- Phosphomannomutase 2 deficiency [ICD-11 More detail]
- congenital disorder of glycosylation type IA [Disease (Nov.)]
MeSH term(s) associated for indexing
- congenital disorders of glycosylation [MeSH Descriptor]
- phosphotransferases (phosphomutases) [MeSH Descriptor]
Record concept(s)
- Congenital disorder of glycosylation type 1A [MeSH concept]
See also (suggested by CISMeF)
- phosphomannomutase 2, human [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Carbohydrate-deficient glycoprotein syndrome type I (disorder) [SNOMED CT concept]
- Congenital Disorder of Glycosylation Type Ia [NCIt concept]
- Congenital disorder of glycosylation type Ia (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation, type ia [OMIM Phenotype]
- PMM2-CDG [ORDO Disease]
- congenital disorder of glycosylation type IA [Disease (Nov.)]
Validated automatic mappings to NTBT
- Carbohydrate-deficient glycoprotein syndrome type I (disorder) [SNOMED CT concept]

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