OMOP Concept 37160625
Glycogen storage disease due to muscle beta-enolase deficiency
StandardConditionSNOMED1162916008Disorder
Maps from
0
Descendants
0
Valid from
30 Sept 2021
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Glycogen storage disease due to muscle beta-enolase deficiency across source vocabularies.
- deficiencia de enolasa muscular
- enfermedad de almacenamiento de glucógeno debida a deficiencia de beta-enolasa muscular
- enfermedad de almacenamiento de glucógeno debida a deficiencia de beta-enolasa muscular (trastorno)
- glucogenosis tipo 13
- Glycogenosis due to muscle beta-enolase deficiency
- Glycogenosis type 13
- Glycogen storage disease due to muscle beta-enolase deficiency (disorder)
- GSDXIII - enfermedad de almacenamiento de glucógeno tipo XIII
- GSDXIII - glycogen storage disease type XIII
- Muscle enolase deficiency
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(27)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Glycogen storage disease, muscular form
- 1Secondary myopathy
- 2Autosomal hereditary disorder
- 2Disorder of muscle
- 2Glycogen storage disease
- 2Hereditary disorder of musculoskeletal system
- 2Metabolic myopathy
- 3Disease
- 3Disorder of carbohydrate metabolism
- 3Disorder of musculoskeletal system
- 3Disorder of skeletal muscle
- 3Hereditary disease
- 3Hereditary disorder by system
- 3Muscle finding
- 3Storage disease
- 4Clinical finding
- 4Disorder of body system
- 4Disorder of soft tissue
- 4Genetic disease
- 4Inborn error of metabolism
- 4Metabolic disease
- 4Musculoskeletal finding
- 5Congenital disease
- 5General finding of soft tissue
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