OMOP Concept 4230040
Glycogen storage disease, type VII
StandardConditionSNOMED89597008Disorder
Maps from
5
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
5 source codes normalize to Glycogen storage disease, type VII via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 115478 | Phosphofructokinase deficiency | Non-standard |
| CIEL | 115479 | Muscle phosphofructokinase deficiency | Non-standard |
| CIEL | 117776 | Glycogen storage disease, type VII | Non-standard |
| MeSH | D006014 | Glycogen Storage Disease Type VII | Non-standard |
| Nebraska Lexicon | 89597008 | Muscle phosphofructokinase deficiency | Non-standard |
Synonyms
Alternative names recorded for Glycogen storage disease, type VII across source vocabularies.
- deficiencia de fosfofructocinasa muscular
- deficiencia de fosfofructoquinasa muscular
- enfermedad de Tarui
- glucogenosis, tipo VII
- glucogenosis, tipo VII (trastorno)
- Glycogen storage disease, type 7
- Glycogen storage disease, type VII (disorder)
- GSD VII
- Muscle phosphofructokinase deficiency
- Tarui's disease
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(24)Roll up to these when you need a wider cohort.
- 1Glycogen storage disease, muscular form
- 2Glycogen storage disease
- 2Hereditary disorder of musculoskeletal system
- 2Metabolic myopathy
- 3Disorder of carbohydrate metabolism
- 3Disorder of musculoskeletal system
- 3Disorder of skeletal muscle
- 3Hereditary disorder by system
- 3Storage disease
- 4Disorder of body system
- 4Disorder of muscle
- 4Disorder of soft tissue
- 4Hereditary disease
- 4Inborn error of metabolism
- 4Metabolic disease
- 4Musculoskeletal finding
- 5Clinical finding
- 5Congenital disease
- 5Disease
- 5General finding of soft tissue
- 5Genetic disease
- 5Hereditary metabolic disease
- 5Muscle finding
- 6Disorder of fetus and/or newborn
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