Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

Preferred Label : Glycogen storage disease due to phosphoglycerate kinase 1 deficiency;

ICD-11 definition : Phosphoglycerate kinase (PGK) deficiency isan inborn error of netabolism characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.;

ICD-11 synonym : Glycogenosis due to phosphoglycerate kinase 1 deficiency; GSD due to phosphoglycerate kinase 1 deficiency;

Details

Origin ID

1396572570;

UMLS CUI

C1970848;

Currated CISMeF NLP mapping
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency [ORDO Disease]
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (disorder) [SNOMED CT concept]
- Phosphoglycerate Kinase 1 Deficiency [NCIt concept]
- Phosphoglycerate kinase 1 deficiency [OMIM Phenotype]
- phosphoglycerate kinase 1 deficiency [MeSH concept]
- phosphoglycerate kinase 1 deficiency [MeSH Supplementary Concept]
- phosphoglycerate kinase 1 deficiency [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency [ORDO Disease]
- Phosphoglycerate Kinase 1 Deficiency [NCIt concept]
- Phosphoglycerate kinase 1 deficiency [OMIM Phenotype]
- phosphoglycerate kinase 1 deficiency [MeSH concept]
- phosphoglycerate kinase 1 deficiency [MeSH Supplementary Concept]
- phosphoglycerate kinase 1 deficiency [DO Concept]

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