Muscle phosphoglycerate mutase deficiency   61772003

SNOMED CT code


SNOMED code61772003
nameMuscle phosphoglycerate mutase deficiency
statusactive
date introduced2002-01-31
fully specified name(s)Muscle phosphoglycerate mutase deficiency (disorder)
synonyms
  • Muscle phosphoglycerate mutase deficiency
  • Phosphoglucomutase deficiency
  • GSD X - glycogen storage disease type X
  • Glycogen storage disease type X
attributes - group2
Finding siteSkeletal muscle system structure   79984008
attributes - group1
OccurrenceCongenital   255399007
parents
  • Glycogen storage disease   29633007
  • Hereditary disorder of musculoskeletal system   363212003
  • Enzymopathy   78548001
  • Autosomal recessive hereditary disorder   85995004
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
            Muscle phosphoglycerate mutase deficiency   61772003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Muscle phosphoglycerate mutase deficiency   61772003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Enzymopathy   78548001
          Muscle phosphoglycerate mutase deficiency   61772003

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 phosphoglycerate mutase deficiency   61772003

ancestors
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