Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome   784347002

SNOMED CT code


SNOMED code784347002
nameAutosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
statusactive
date introduced2019-07-31
fully specified name(s)Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome (disorder)
synonyms
  • Autosomal recessive spastic ataxia type 4
  • Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
  • SPAX 4 - autosomal recessive spastic ataxia type 4
attributes - group1
Finding siteOptic nerve structure   18234004
Associated morphologyAtrophy   13331008
attributes - group2
Finding siteCerebellar structure   113305005
attributes - group3
InterpretsSpeech observable   363918005
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disease of the central nervous system   80690008
          Hereditary degenerative disease of central nervous system   106018006
            Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome   784347002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Second cranial nerve finding   106152006
        Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome   784347002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Mitochondrial cytopathy   240096000
          Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome   784347002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Inherited optic neuropathy   312942003
            Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome   784347002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of coordination   298314008
      Ataxia   20262006
        Hereditary ataxia   763597000
          Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome   784347002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disease of the central nervous system   80690008
          Optic atrophy   76976005
            Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome   784347002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Neurological finding   102957003
      Dysarthria   8011004
        Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome   784347002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of coordination   298314008
      Ataxia   20262006
        Cerebellar ataxia   85102008
          Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome   784347002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome   784347002

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