Phosphoglucomutase-1 deficiency

Preferred Label : Phosphoglucomutase-1 deficiency;

ICD-11 synonym : PGM1-CDG - [Phosphoglucomutase-1 deficiency]; Congenital disorder of glycosylation type 1t;

ICD-11 acronym : PGM1-CDG;

Details

Origin ID

1592319293;

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]
Validated automatic mappings to NTBT
- Glycogen storage disease due to phosphoglucomutase deficiency [ORDO Disease]

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