Progressive external ophthalmoplegia, myopathy, emaciation syndrome   764733009

SNOMED CT code


SNOMED code764733009
nameProgressive external ophthalmoplegia, myopathy, emaciation syndrome
statusactive
date introduced2018-07-31
fully specified name(s)Progressive external ophthalmoplegia, myopathy, emaciation syndrome (disorder)
synonyms
  • Progressive external ophthalmoplegia, myopathy, emaciation syndrome
  • PEO (progressive external ophthalmoplegia) myopathy emaciation syndrome
  • Mitochondrial DNA (deoxyribonucleic acid) maintenance syndrome due to MGME1 (mitochondrial genome maintenance exonuclease 1) deficiency
attributes - group5
Clinical courseProgressive   255314001
attributes - group4
Finding siteStructure of extraocular muscle   67833000
attributes - group7
InterpretsMovement   255324009
attributes - group6
InterpretsMovement observable   363847004
Has interpretationAbsent   2667000
attributes - group3
OccurrenceCongenital   255399007
Finding siteSkeletal muscle structure   127954009
attributes - group1
Finding siteBrain structure   12738006
OccurrenceCongenital   255399007
attributes - group2
OccurrenceCongenital   255399007
Finding siteEye region structure   371398005
parents
  • Chronic metabolic disorder   128289001
  • Mitochondrial myopathy   16851005
  • Hereditary disorder of musculoskeletal system   363212003
  • Hereditary disorder of nervous system   363235000
  • Hereditary disorder of the visual system   363343008
  • Progressive external ophthalmoplegia   46252003
  • Metabolic encephalopathy   50122000
  • Myopathy of extraocular muscles   57130002
  • Congenital disease   66091009
  • Chronic brain syndrome   78689005
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic metabolic disorder   128289001
          Progressive external ophthalmoplegia, myopathy, emaciation syndrome   764733009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Mitochondrial cytopathy   240096000
          Mitochondrial myopathy   16851005
            Progressive external ophthalmoplegia, myopathy, emaciation syndrome   764733009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Progressive external ophthalmoplegia, myopathy, emaciation syndrome   764733009

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
            Progressive external ophthalmoplegia, myopathy, emaciation syndrome   764733009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Progressive external ophthalmoplegia, myopathy, emaciation syndrome   764733009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic disease of musculoskeletal system   128237006
          Progressive external ophthalmoplegia   46252003
            Progressive external ophthalmoplegia, myopathy, emaciation syndrome   764733009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Metabolic encephalopathy   50122000
          Progressive external ophthalmoplegia, myopathy, emaciation syndrome   764733009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Orbit finding   246912006
        Disorder of orbit proper   371436007
          Disorder of extraocular muscle   128603005
            Myopathy of extraocular muscles   57130002
              Progressive external ophthalmoplegia, myopathy, emaciation syndrome   764733009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Progressive external ophthalmoplegia, myopathy, emaciation syndrome   764733009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic nervous system disorder   128283000
          Chronic brain syndrome   78689005
            Progressive external ophthalmoplegia, myopathy, emaciation syndrome   764733009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Progressive external ophthalmoplegia, myopathy, emaciation syndrome   764733009

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