DNA2-related mitochondrial DNA deletion syndrome   783057002

SNOMED CT code


SNOMED code783057002
nameDNA2-related mitochondrial DNA deletion syndrome
statusactive
date introduced2019-07-31
fully specified name(s)DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome (disorder)
synonyms
  • Mitochondrial DNA deletion syndrome with limb-girdle weakness
  • Mitochondrial DNA deletion syndrome with progressive myopathy
  • DNA2-related mitochondrial DNA deletion syndrome
  • DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome
attributes - group1
Finding siteSkeletal muscle structure   127954009
OccurrenceCongenital   255399007
parents
  • Autosomal dominant hereditary disorder   11164009
  • Mitochondrial myopathy   16851005
  • Disorder of mitochondrial respiratory chain complexes   237986005
  • Hereditary disorder of musculoskeletal system   363212003
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              DNA2-related mitochondrial DNA deletion syndrome   783057002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Mitochondrial cytopathy   240096000
          Mitochondrial myopathy   16851005
            DNA2-related mitochondrial DNA deletion syndrome   783057002

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
              DNA2-related mitochondrial DNA deletion syndrome   783057002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          DNA2-related mitochondrial DNA deletion syndrome   783057002

ancestors
sorted most to least specific
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