Glycogen storage disease   29633007

SNOMED CT code


SNOMED code29633007
nameGlycogen storage disease
statusactive
date introduced2002-01-31
fully specified name(s)Glycogen storage disease (disorder)
synonyms
  • GSD - Glycogen storage disease
  • Glycogen storage disease
  • Glycogenosis
attributes - group1
OccurrenceCongenital   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
  • Muscle phosphoglycerate mutase deficiency   61772003
  • 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
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of carbohydrate metabolism   20957000
          Glycogen storage disease   29633007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Storage disease   34420000
            Glycogen storage disease   29633007

ancestors
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