Muscle and heart glycogen synthase deficiency   725027004

SNOMED CT code


SNOMED code725027004
nameMuscle and heart glycogen synthase deficiency
statusactive
date introduced2017-07-31
fully specified name(s)Muscle and heart glycogen synthase deficiency (disorder)
synonyms
  • Muscle and heart glycogen synthase deficiency
  • Glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • Glycogen storage disease type 0b
  • Glycogenosis due to muscle and heart glycogen synthase deficiency
  • Glycogenosis type 0b
attributes - group1
Associated morphologyHypertrophy   56246009
Finding siteMyocardium structure   74281007
attributes - group2
Due toGlycogen synthase deficiency   237964009
attributes - group6
OccurrenceCongenital   255399007
Finding siteSkeletal muscle structure   127954009
parents
  • Metabolic myopathy   26111005
  • Glycogen storage disease   29633007
  • Cardiovascular system hereditary disorder   363005004
  • Hereditary disorder of musculoskeletal system   363212003
  • Secondary myopathy   60738003
  • Autosomal recessive hereditary disorder   85995004
  • Hypertrophic cardiomyopathy due to glycogen storage disease   871638006
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Muscle finding   106030000
      Disorder of muscle   129565002
        Disorder of skeletal muscle   75047002
          Metabolic myopathy   26111005
            Muscle and heart glycogen synthase deficiency   725027004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of carbohydrate metabolism   20957000
          Glycogen storage disease   29633007
            Muscle and heart glycogen synthase deficiency   725027004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Disorder of cardiovascular system   49601007
        Cardiovascular system hereditary disorder   363005004
          Muscle and heart glycogen synthase deficiency   725027004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Muscle and heart glycogen synthase deficiency   725027004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Muscle finding   106030000
      Disorder of muscle   129565002
        Secondary myopathy   60738003
          Muscle and heart glycogen synthase deficiency   725027004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Muscle and heart glycogen synthase deficiency   725027004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Cardiac finding   301095005
        Heart disease   56265001
          Cardiac complication   40172005
            Cardiomyopathy due to storage disease   860839005
              Hypertrophic cardiomyopathy due to glycogen storage disease   871638006
                Muscle and heart glycogen synthase deficiency   725027004

ancestors
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