Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency   783734000

SNOMED CT code


SNOMED code783734000
nameMitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
statusactive
date introduced2019-07-31
fully specified name(s)Mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase deficiency (disorder)
synonyms
  • Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
  • Mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase deficiency
attributes - group2
Finding siteLiver structure   10200004
attributes - group3
Finding siteCerebral structure   83678007
attributes - group1
OccurrenceCongenital   255399007
parents
  • Inherited metabolic disorder of nervous system   128190004
  • Metabolic and genetic disorder affecting the liver   235903001
  • Depletion of mitochondrial DNA   237995002
  • Disorder of purine metabolism   32612005
  • Digestive system hereditary disorder   363080007
  • Metabolic encephalopathy   50122000
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Inherited metabolic disorder of nervous system   128190004
            Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency   783734000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Metabolic and genetic disorder affecting the liver   235903001
          Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency   783734000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Disorder of pyruvate metabolism and mitochondrial respiratory chain   237981000
            Disorder of mitochondrial respiratory chain complexes   237986005
              Depletion of mitochondrial DNA   237995002
                Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency   783734000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of purine and pyrimidine metabolism   238006008
          Disorder of purine metabolism   32612005
            Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency   783734000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Disorder of digestive system   53619000
        Digestive system hereditary disorder   363080007
          Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency   783734000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Metabolic encephalopathy   50122000
          Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency   783734000

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 DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency   783734000

ancestors
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