TMEM70 related mitochondrial encephalo-cardio-myopathy   718212006

SNOMED CT code


SNOMED code718212006
nameTMEM70 related mitochondrial encephalo-cardio-myopathy
statusactive
date introduced2016-07-31
fully specified name(s)Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder)
synonyms
  • Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
  • TMEM70 related mitochondrial encephalo-cardio-myopathy
attributes - group1
OccurrenceNeonatal   255407002
attributes - group2
Finding siteBrain structure   12738006
attributes - group4
Finding siteMyocardium structure   74281007
attributes - group3
Finding siteSkeletal muscle structure   127954009
parents
  • Mitochondrial myopathy   16851005
  • Cardiovascular system hereditary disorder   363005004
  • Hereditary disorder of musculoskeletal system   363212003
  • Hereditary disorder of nervous system   363235000
  • Neonatal cardiovascular disorder   363696006
  • Myocardial disease   57809008
  • Neonatal metabolic disorder   736652002
  • Disorder of brain   81308009
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Mitochondrial cytopathy   240096000
          Mitochondrial myopathy   16851005
            TMEM70 related mitochondrial encephalo-cardio-myopathy   718212006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Disorder of cardiovascular system   49601007
        Cardiovascular system hereditary disorder   363005004
          TMEM70 related mitochondrial encephalo-cardio-myopathy   718212006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          TMEM70 related mitochondrial encephalo-cardio-myopathy   718212006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Hereditary disorder of nervous system   363235000
            TMEM70 related mitochondrial encephalo-cardio-myopathy   718212006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of neonate   118188004
      Neonatal disease   22925008
        Neonatal cardiovascular disorder   363696006
          TMEM70 related mitochondrial encephalo-cardio-myopathy   718212006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Cardiac finding   301095005
        Myocardial finding   251052000
          Myocardial disease   57809008
            TMEM70 related mitochondrial encephalo-cardio-myopathy   718212006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of neonate   118188004
      Neonatal disease   22925008
        Neonatal metabolic disorder   736652002
          TMEM70 related mitochondrial encephalo-cardio-myopathy   718212006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Finding of brain   299718000
        Disorder of brain   81308009
          TMEM70 related mitochondrial encephalo-cardio-myopathy   718212006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              TMEM70 related mitochondrial encephalo-cardio-myopathy   718212006

ancestors
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