X-linked spinocerebellar ataxia type 3   719817002

SNOMED CT code


SNOMED code719817002
nameX-linked spinocerebellar ataxia type 3
statusactive
date introduced2017-01-31
fully specified name(s)X-linked spinocerebellar ataxia type 3 (disorder)
synonyms
  • X-linked spinocerebellar ataxia type 3
  • X-linked ataxia deafness syndrome
attributes - group1
Finding siteSpinal cord structure   2748008
Associated morphologyDegenerative abnormality   107669003
attributes - group2
Associated morphologyDegenerative abnormality   107669003
Finding siteCerebellar structure   113305005
attributes - group3
Finding siteAuditory structure   91159003
attributes - group4
InterpretsHearing   47078008
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Sex-linked hereditary disorder   82852009
            X-linked hereditary disease   128430005
              X-linked recessive hereditary disease   1162976004
                X-linked spinocerebellar ataxia type 3   719817002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of coordination   298314008
      Ataxia   20262006
        Hereditary ataxia   763597000
          Spinocerebellar ataxia   129609000
            X-linked spinocerebellar ataxia type 3   719817002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          X-linked spinocerebellar ataxia type 3   719817002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Hearing finding   118230007
        Hearing disorder   128540005
          Hearing loss   15188001
            Sensorineural hearing loss   60700002
              X-linked spinocerebellar ataxia type 3   719817002

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