glycogen storage disease XIV

Preferred Label : glycogen storage disease XIV;

MeSH synonym : GSD14; phosphoglucomutase 1 deficiency; GSD XIV; PGM1 deficiency;

Origin ID

C567859;

UMLS CUI

C2752015;

Currated CISMeF NLP mapping
- Congenital disorder of glycosylation, type it [OMIM Phenotype]
- Glycogen storage disease due to phosphoglucomutase deficiency [ORDO Disease]
- Glycogen storage disease due to phosphoglucomutase deficiency [ICD-11 More detail]
- Glycogen storage disease xiv [OMIM Phenotype]
- PGM1-CDG [ORDO Disease]
- Phosphoglucomutase 1-related congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- Phosphoglucomutase-1 deficiency [ICD-11 More detail]
- congenital disorder of glycosylation It [DO Concept]
MeSH term(s) associated for indexing
- glycogen storage disease [MeSH Descriptor]
Record concept(s)
- glycogen storage disease XIV [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital disorder of glycosylation, type it [OMIM Phenotype]
- Glycogen storage disease due to phosphoglucomutase deficiency [ORDO Disease]
- Glycogen storage disease due to phosphoglucomutase deficiency [ICD-11 More detail]
- Glycogen storage disease xiv [OMIM Phenotype]
- PGM1-CDG [ORDO Disease]
- Phosphoglucomutase 1-related congenital disorder of glycosylation (disorder) [SNOMED CT concept]