Mitochondrial myopathy with sideroblastic anemia syndrome   724138007

SNOMED CT code


SNOMED code724138007
nameMitochondrial myopathy with sideroblastic anemia syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Mitochondrial myopathy with sideroblastic anemia syndrome (disorder)
synonyms
  • Mitochondrial myopathy with sideroblastic anemia syndrome
  • Mitochondrial myopathy with sideroblastic anaemia syndrome
  • Myopathy, lactic acidosis and sideroblastic anemia
  • Myopathy, lactic acidosis and sideroblastic anaemia
attributes - group2
Finding siteSkeletal muscle structure   127954009
attributes - group3
Has interpretationBelow reference range   281300000
InterpretsMeasurement of total hemoglobin concentration   441689006
attributes - group4
Has interpretationBelow reference range   281300000
InterpretsRed blood cell count   14089001
parents
  • Hemoglobin below reference range   165397008
  • Red blood cell count below reference range   165423001
  • Mitochondrial myopathy   16851005
  • Hereditary disorder of musculoskeletal system   363212003
  • Hereditary disorder of cellular element of blood   414393003
  • Sideroblastic anemia   41841004
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Procedure related finding   127325009
      Evaluation finding   441742003
        Hematopoietic system finding   106200001
          Hemoglobin finding   250220000
            Hemoglobin level outside reference range   441793007
              Hemoglobin below reference range   165397008
                Mitochondrial myopathy with sideroblastic anemia syndrome   724138007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Procedure related finding   127325009
      Evaluation finding   441742003
        Measurement finding   118245000
          Red blood cell count - finding   365625004
            Red blood cell count outside reference range   165427000
              Red blood cell count below reference range   165423001
                Mitochondrial myopathy with sideroblastic anemia syndrome   724138007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Mitochondrial cytopathy   240096000
          Mitochondrial myopathy   16851005
            Mitochondrial myopathy with sideroblastic anemia syndrome   724138007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Mitochondrial myopathy with sideroblastic anemia syndrome   724138007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of blood, lymphatics and immune system   299691001
      Disorder of cellular component of blood   414022008
        Hereditary disorder of cellular element of blood   414393003
          Mitochondrial myopathy with sideroblastic anemia syndrome   724138007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of blood, lymphatics and immune system   299691001
      Disorder of cellular component of blood   414022008
        Anemia   271737000
          Sideroblastic anemia   41841004
            Mitochondrial myopathy with sideroblastic anemia syndrome   724138007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Mitochondrial myopathy with sideroblastic anemia syndrome   724138007

ancestors
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