Autosomal dominant progressive external ophthalmoplegia   827115000

SNOMED CT code


SNOMED code827115000
nameAutosomal dominant progressive external ophthalmoplegia
statusactive
date introduced2020-01-31
fully specified name(s)Autosomal dominant progressive external ophthalmoplegia (disorder)
synonyms
  • Autosomal dominant progressive external ophthalmoplegia
  • adPEO - autosomal dominant progressive external ophthalmoplegia
attributes - group1
Clinical courseProgressive   255314001
attributes - group2
Finding siteNervous system structure   25087005
attributes - group3
Finding siteStructure of extraocular muscle   67833000
attributes - group5
InterpretsMovement   255324009
attributes - group4
InterpretsMovement observable   363847004
Has interpretationAbsent   2667000
parents
  • Autosomal dominant hereditary disorder   11164009
  • Chronic metabolic disorder   128289001
  • Mitochondrial cytopathy   240096000
  • Hereditary disorder of musculoskeletal system   363212003
  • Hereditary disorder of nervous system   363235000
  • Hereditary disorder of the visual system   363343008
  • Progressive external ophthalmoplegia   46252003
children
  • Autosomal dominant progressive external ophthalmoplegia type 1   1156857003
  • Autosomal dominant progressive external ophthalmoplegia type 2   1156858008
  • Autosomal dominant progressive external ophthalmoplegia type 3   1156855006
  • Autosomal dominant progressive external ophthalmoplegia type 4   1156856007
  • Autosomal dominant progressive external ophthalmoplegia type 5   1156853004
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
              Autosomal dominant progressive external ophthalmoplegia   827115000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic metabolic disorder   128289001
          Autosomal dominant progressive external ophthalmoplegia   827115000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Mitochondrial cytopathy   240096000
          Autosomal dominant progressive external ophthalmoplegia   827115000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Autosomal dominant progressive external ophthalmoplegia   827115000

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
            Autosomal dominant progressive external ophthalmoplegia   827115000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Autosomal dominant progressive external ophthalmoplegia   827115000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic disease of musculoskeletal system   128237006
          Progressive external ophthalmoplegia   46252003
            Autosomal dominant progressive external ophthalmoplegia   827115000

ancestors
sorted most to least specific
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