Glycogen storage disease due to acid maltase deficiency   274864009

SNOMED CT code


SNOMED code274864009
nameGlycogen storage disease due to acid maltase deficiency
statusactive
date introduced2002-01-31
fully specified name(s)Glycogen storage disease due to acid maltase deficiency (disorder)
synonyms
  • Glycogen storage disease, type II
  • Pompe's disease
  • Pompe disease
  • Glycogen storage disease due to acid maltase deficiency
  • Alpha-1,4-glucosidase acid deficiency
  • Glycogenosis due to acid maltase deficiency
  • Glycogenosis type II
  • Glycogen heart disease
attributes - group2
Due toDeficiency of glucan 1,4-alpha-glucosidase   124454007
attributes - group1
OccurrenceCongenital   255399007
parents
  • Glycogen storage disease   29633007
  • Autosomal recessive hereditary disorder   85995004
children
  • Glycogen storage disease due to acid maltase deficiency, infantile onset   722302009
  • Glycogen storage disease due to acid maltase deficiency, late-onset   722343009
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
            Glycogen storage disease due to acid maltase deficiency   274864009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Glycogen storage disease due to acid maltase deficiency   274864009

ancestors
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