OMOP Concept 37162328
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
StandardConditionSNOMED1187462006Disorder
Maps from
0
Descendants
0
Valid from
31 Jan 2022
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Glycogen storage disease due to phosphoglycerate kinase 1 deficiency across source vocabularies.
- enfermedad de almacenamiento de glucógeno debida a deficiencia de fosfoglicerato cinasa 1
- glucogenosis debida a deficiencia de fosfoglicerato cinasa 1
- glucogenosis debida a deficiencia de fosfoglicerato cinasa 1 (trastorno)
- Glycogenosis due to phosphoglycerate kinase 1 deficiency
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(15)Roll up to these when you need a wider cohort.
- 1Glycogen storage disease
- 1X-linked recessive hereditary disease
- 2Disorder of carbohydrate metabolism
- 2Storage disease
- 2X-linked hereditary disease
- 3Inborn error of metabolism
- 3Metabolic disease
- 3Sex-linked hereditary disorder
- 4Congenital disease
- 4Disease
- 4Hereditary disease
- 4Hereditary metabolic disease
- 5Clinical finding
- 5Disorder of fetus and/or newborn
- 5Genetic disease
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