NARP syndrome   237984008

SNOMED CT code


SNOMED code237984008
nameNARP syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
synonyms
  • Neurogenic muscle weakness, ataxia and retinitis pigmentosa
  • NARP (neurogenic muscle weakness, ataxia, retinitis pigmentosa) syndrome
  • NARP syndrome
attributes - group3
Clinical courseProgressive   255314001
attributes - group4
Finding siteSkeletal muscle structure   127954009
attributes - group5
Finding sitePeripheral nervous system structure   3058005
attributes - group2
Finding siteRetinal structure   5665001
Associated morphologyDystrophy   4720007
attributes - group1
OccurrenceCongenital   255399007
parents
  • Maternally inherited mitochondrial deoxyribonucleic acid disease   1162975000
  • Inherited metabolic disorder of nervous system   128190004
  • Chronic disease of musculoskeletal system   128237006
  • Chronic nervous system disorder   128283000
  • Chronic metabolic disorder   128289001
  • Disorder of pyruvate metabolism and mitochondrial respiratory chain   237981000
  • Myoneural disorder   257277002
  • Retinitis pigmentosa   28835009
  • Hereditary disorder of musculoskeletal system   363212003
  • Neurological muscle weakness   41786007
  • Hereditary ataxia   763597000
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Maternally inherited mitochondrial deoxyribonucleic acid disease   1162975000
            NARP syndrome   237984008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Inherited metabolic disorder of nervous system   128190004
            NARP syndrome   237984008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic disease of musculoskeletal system   128237006
          NARP syndrome   237984008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic nervous system disorder   128283000
          NARP syndrome   237984008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic metabolic disorder   128289001
          NARP syndrome   237984008

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
            NARP syndrome   237984008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Muscle finding   106030000
      Disorder of muscle   129565002
        Disorder of skeletal muscle   75047002
          Myoneural disorder   257277002
            NARP syndrome   237984008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Hereditary retinal dystrophy   41799005
            Retinitis pigmentosa   28835009
              NARP syndrome   237984008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          NARP syndrome   237984008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Finding of power of skeletal muscle   271708004
        Muscle weakness   26544005
          Neurological muscle weakness   41786007
            NARP syndrome   237984008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of coordination   298314008
      Ataxia   20262006
        Hereditary ataxia   763597000
          NARP syndrome   237984008

ancestors
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