Congenital Disorder of Glycosylation Type Ia

Preferred Label : Congenital Disorder of Glycosylation Type Ia;

NCIt synonyms : CDGIa;

NCIt definition : A congenital disorder of glycosylation subtype caused by mutation(s) in the PMM2 gene, encoding phosphomannomutase 2.;

Details

Origin ID

C126868;

UMLS CUI

C0349653;

Automatic exact mappings (from CISMeF team)
- phosphomannomutase 2 [ORDO Gene]
Currated CISMeF NLP mapping
- Congenital disorder of glycosylation type 1A [MeSH concept]
- Congenital disorder of glycosylation type Ia (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation, type ia [OMIM Phenotype]
- PMM2-CDG [ORDO Disease]
- Phosphomannomutase 2 deficiency [ICD-11 More detail]
- congenital disorder of glycosylation type 1A [MeSH Supplementary Concept]
- congenital disorder of glycosylation type IA [Disease (Nov.)]
See also inter- (CISMeF)
- Deficiency of phosphomannomutase 2 (disorder) [SNOMED CT concept]
- Phosphomannomutase 2 deficiency [ICD-11 More detail]
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 1A [MeSH 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 1A [MeSH Supplementary Concept]
- congenital disorder of glycosylation type IA [Disease (Nov.)]
Validated automatic mappings to NTBT
- Carbohydrate-deficient glycoprotein syndrome type I (disorder) [SNOMED CT concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- PMM2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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