Glycogen storage disease

Glycogen storage disease (disorder)

active

Code	`29633007`
Semantic tag	disorder
Module	international
Definition	defined
Effective time	20020131

Synonyms

GSD - Glycogen storage disease
Glycogenosis

Parents (2)

20957000Disorder of carbohydrate metabolism disorder
34420000Storage disease disorder

Children (26)

721099001Adult polyglucosan body disease disorder
195025008Cardiac glycogenosis disorder
419097006Danon disease disorder
367406009Deficiency of alpha-dextrin endo-1,6-alpha-glucosidase disorder
1230303001Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease disorder
459062008Fatal congenital nonlysosomal heart glycogenosis disorder
267424007Generalised glycogenosis disorder
237966006Glucose transport defect disorder
235908005Glycogen phosphorylase kinase deficiency disorder
274864009Glycogen storage disease due to acid maltase deficiency disorder
1187461004Glycogen storage disease due to aldolase A deficiency disorder
1186809004Glycogen storage disease due to lactate dehydrogenase deficiency disorder
860858001Glycogen storage disease due to muscle pyruvate kinase deficiency disorder
1187462006Glycogen storage disease due to phosphoglycerate kinase 1 deficiency disorder
717821004Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency disorder
6075009Glycogen storage disease, hepatic form disorder
15978003Glycogen storage disease, muscular form disorder
237964009Glycogen synthase deficiency disorder
61598006Glycogenosis with glucoaminophosphaturia disorder
725027004Muscle and heart glycogen synthase deficiency disorder
61772003Muscle phosphoglycerate mutase deficiency disorder
358501000112100PRKAG2 syndrome disorder
237965005Phosphate transport defect disorder
774148007Polyglucosan body myopathy type 1 disorder
1228849007Polyglucosan body myopathy type 2 disorder
707551007Pulmonary interstitial glycogenosis disorder