Glycogen storage disease due to lactate dehydrogenase deficiency   1186809004

SNOMED CT code


SNOMED code1186809004
nameGlycogen storage disease due to lactate dehydrogenase deficiency
statusactive
date introduced2021-11-30
fully specified name(s)Glycogen storage disease due to lactate dehydrogenase deficiency (disorder)
synonyms
  • Glycogen storage disease type XI
  • Glycogen storage disease due to lactate dehydrogenase deficiency
attributes - group2
Due toLactate dehydrogenase deficiency   237982007
attributes - group1
OccurrenceCongenital   255399007
Finding siteSkeletal muscle structure   127954009
parents
  • Glycogen storage disease   29633007
  • Hereditary disorder of musculoskeletal system   363212003
  • Secondary myopathy   60738003
  • Disorder of skeletal muscle   75047002
  • 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
            Glycogen storage disease due to lactate dehydrogenase deficiency   1186809004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Glycogen storage disease due to lactate dehydrogenase deficiency   1186809004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Muscle finding   106030000
      Disorder of muscle   129565002
        Secondary myopathy   60738003
          Glycogen storage disease due to lactate dehydrogenase deficiency   1186809004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Muscle finding   106030000
      Disorder of muscle   129565002
        Disorder of skeletal muscle   75047002
          Glycogen storage disease due to lactate dehydrogenase deficiency   1186809004

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 lactate dehydrogenase deficiency   1186809004

ancestors
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