Gemignani syndrome   782690007

SNOMED CT code


SNOMED code782690007
nameGemignani syndrome
statusactive
date introduced2019-07-31
fully specified name(s)Gemignani syndrome (disorder)
synonyms
  • Spinocerebellar ataxia, amyotrophy, deafness syndrome
  • Gemignani syndrome
attributes - group1
Finding siteCentral nervous system structure   21483005
Associated morphologyDegenerative abnormality   107669003
attributes - group4
Finding siteEar structure   117590005
attributes - group3
Finding siteCerebellar structure   113305005
attributes - group5
InterpretsHearing   47078008
attributes - group2
Clinical courseProgressive   255314001
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
            Gemignani syndrome   782690007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic disease of ear   128297008
          Chronic deafness   232325008
            Gemignani syndrome   782690007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Hearing finding   118230007
        Hearing disorder   128540005
          Hearing loss   15188001
            Hearing loss associated with syndrome   232333009
              Gemignani syndrome   782690007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          Gemignani syndrome   782690007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Hearing finding   118230007
        Hearing disorder   128540005
          Hearing loss   15188001
            Sensorineural hearing loss   60700002
              Gemignani syndrome   782690007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of coordination   298314008
      Ataxia   20262006
        Hereditary ataxia   763597000
          Gemignani syndrome   782690007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic nervous system disorder   128283000
          Chronic brain syndrome   78689005
            Gemignani syndrome   782690007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of coordination   298314008
      Ataxia   20262006
        Cerebellar ataxia   85102008
          Gemignani syndrome   782690007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Gemignani syndrome   782690007

ancestors
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