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Glycogen storage disease 29633007 SNOMED CT code SNOMED code 29633007 name Glycogen storage disease status active date introduced 2002-01-31 fully specified name(s) Glycogen storage disease (disorder) synonyms GSD - Glycogen storage disease Glycogen storage disease Glycogenosis attributes - group1 Occurrence Congenital 255399007 parents children Adult polyglucosan body disease 721099001 Branching-transferase deficiency glycogenosis 190742009 removed: 2003-01-31 Cardiac glycogenosis 195025008 Danon disease 419097006 Deficiency of alpha-dextrin endo-1,6-alpha-glucosidase 367406009 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease 1230303001 Fatal congenital nonlysosomal heart glycogenosis 459062008 Generalized glycogenosis 267424007 Glucose transport defect 237966006 Glycogen phosphorylase kinase deficiency 235908005 Glycogen storage disease due to acid maltase deficiency 274864009 Glycogen storage disease due to aldolase A deficiency 1187461004 Glycogen storage disease due to lactate dehydrogenase deficiency 1186809004 Glycogen storage disease due to muscle pyruvate kinase deficiency 860858001 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 1187462006 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency 717821004 Glycogen storage disease, hepatic form 6075009 Glycogen storage disease, muscular form 15978003 Glycogen synthase deficiency 237964009 Glycogenosis NOS 190744005 removed: 2010-01-31 Glycogenosis with glucoaminophosphaturia 61598006 Hepatic glycogen phosphorylase deficiency 237971004 removed: 2015-01-31 Lysosomal alpha-1,4-glucosidase deficiency 237967002 removed: 2017-01-31 Muscle and heart glycogen synthase deficiency 725027004 Other specified glycogenosis 190743004 removed: 2010-01-31 Phosphate transport defect 237965005 Polyglucosan body myopathy type 1 774148007 Polyglucosan body myopathy type 2 1228849007 Pulmonary interstitial glycogenosis 707551007 hierarchies a selection of possible paths
SNOMED CT Concept 138875005 404684003 64572001 75934005 20957000 29633007 138875005 404684003 64572001 66091009 86095007 34420000 29633007 ancestors sorted most to least specific
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