OMOP Concept 434003
Glycogen storage disease
StandardConditionSNOMED29633007Disorder
Maps from
29
Descendants
45
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
29 source codes normalize to Glycogen storage disease via the OMOP "Maps to" relationship.
Synonyms
Alternative names recorded for Glycogen storage disease across source vocabularies.
- enfermedad por almacenamiento de glucógeno
- glucogenosis
- glucogenosis (trastorno)
- Glycogenosis
- Glycogen storage disease (disorder)
- GSD - Glycogen storage disease
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(11)Roll up to these when you need a wider cohort.
Narrower concepts
(45)Included automatically when you query with descendants.
- 1Adult polyglucosan body disease
- 1Cardiac glycogenosis
- 1Danon disease
- 1Deficiency of alpha-dextrin endo-1,6-alpha-glucosidase
- 1Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
- 1Fatal congenital nonlysosomal heart glycogenosis
- 1Generalized glycogenosis
- 1Glucose transport defect
- 1Glycogenosis with glucoaminophosphaturia
- 1Glycogen phosphorylase kinase deficiency
- 1Glycogen storage disease due to acid maltase deficiency
- 1Glycogen storage disease due to aldolase A deficiency
- 1Glycogen storage disease due to lactate dehydrogenase deficiency
- 1Glycogen storage disease due to muscle pyruvate kinase deficiency
- 1Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- 1Glycogen storage disease, hepatic form
- 1Glycogen storage disease, muscular form
- 1Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
- 1Glycogen synthase deficiency
- 1Muscle and heart glycogen synthase deficiency
- 1Muscle phosphoglycerate mutase deficiency
- 1Phosphate transport defect
- 1Polyglucosan body myopathy type 1
- 1Polyglucosan body myopathy type 2
- 1Pulmonary interstitial glycogenosis
- 2EPSM-Equine polysaccharide storage myopathy
- 2Glycogen phosphorylase kinase deficiency, autosomal recessive
- 2Glycogen storage disease due to acid maltase deficiency, infantile onset
- 2Glycogen storage disease due to acid maltase deficiency, late-onset
- 2Glycogen storage disease due to muscle beta-enolase deficiency
- 2Glycogen storage disease due to muscle phosphorylase kinase deficiency
- 2Glycogen storage disease, type I
- 2Glycogen storage disease type III
- 2Glycogen storage disease, type IV
- 2Glycogen storage disease type IXB
- 2Glycogen storage disease, type V
- 2Glycogen storage disease, type VI
- 2Glycogen storage disease, type VII
- 2Glycogen storage disease type VIII
- 2Hepatic glycogen synthase deficiency
- 3Cardiac glycogen phosphorylase kinase deficiency
- 3Glucose-6-phosphate transport defect
- 3Glycogen storage disease type Ia
- 3Hepatic and muscle glycogen phosphorylase kinase deficiency
- 3Hepatic glycogen phosphorylase kinase deficiency
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