Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency   771478008

SNOMED CT code


SNOMED code771478008
nameMitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
statusactive
date introduced2019-01-31
fully specified name(s)Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency (disorder)
synonyms
  • COXPD10 - combined oxidative phosphorylation defect type 10
  • Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimisation 1 deficiency
  • Combined oxidative phosphorylation defect type 10
  • Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency
attributes - group2
Due toMitochondrial cytopathy   240096000
attributes - group1
Associated morphologyHypertrophy   56246009
OccurrenceCongenital   255399007
Finding siteMyocardium structure   74281007
parents
  • Deficiency in enzyme complexes of mitochondrial respiratory chain   237987001
  • Mitochondrial cytopathy   240096000
  • Cardiovascular system hereditary disorder   363005004
  • Hypertrophic mitochondrial cardiomyopathy   472316006
  • Congenital cardiovascular disorder   762228008
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Enzymopathy   78548001
          Deficiency in enzyme complexes of mitochondrial respiratory chain   237987001
            Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency   771478008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Mitochondrial cytopathy   240096000
          Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency   771478008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Disorder of cardiovascular system   49601007
        Cardiovascular system hereditary disorder   363005004
          Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency   771478008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Cardiac finding   301095005
        Heart disease   56265001
          Cardiac complication   40172005
            Mitochondrial cardiomyopathy   472315005
              Hypertrophic mitochondrial cardiomyopathy   472316006
                Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency   771478008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Disorder of cardiovascular system   49601007
        Congenital cardiovascular disorder   762228008
          Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency   771478008

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 hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency   771478008

ancestors
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