Glycogen storage disease due to phosphoglucomutase deficiency

Preferred Label : Glycogen storage disease due to phosphoglucomutase deficiency;

ICD-11 definition : Glycogen storage disease type XIV (GSDXIV) is a rare metabolic disorder caused by a deficiency in phosphoglucomutase (PGM) enzymatic activity and characterized by recurrent cramps during exercise from the first years of life with .;

ICD-11 synonym : GSD type 14; Glycogen storage disease type 14; Glycogenosis type 14;

Details

Origin ID

614045107;

UMLS CUI

C2752015;

CISMeF manual mappings
- Glycogen storage disease due to phosphoglucomutase deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Congenital disorder of glycosylation, type it [OMIM Phenotype]
- Glycogen storage disease xiv [OMIM Phenotype]
- PGM1-CDG [ORDO Disease]
- Phosphoglucomutase 1-related congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- congenital disorder of glycosylation It [DO Concept]
- glycogen storage disease XIV [MeSH concept]
- glycogen storage disease XIV [MeSH Supplementary 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 xiv [OMIM Phenotype]
- PGM1-CDG [ORDO Disease]
- Phosphoglucomutase 1-related congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- glycogen storage disease XIV [MeSH concept]
- glycogen storage disease XIV [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients