Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome   720634003

SNOMED CT code


SNOMED code720634003
nameCerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder)
synonyms
  • Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
  • CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss) syndrome
attributes - group1
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
attributes - group5
InterpretsHearing   47078008
attributes - group3
Finding siteOptic nerve structure   18234004
attributes - group4
Finding siteCerebellar structure   113305005
attributes - group2
Finding siteEar structure   117590005
parents
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
              Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome   720634003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of coordination   298314008
      Ataxia   20262006
        Cerebellar ataxia   85102008
          Early onset cerebellar ataxia   230227009
            Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome   720634003

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
              Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome   720634003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of sensory organ   1279550006
        Disorder of ear   25906001
          Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome   720634003

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
            Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome   720634003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome   720634003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome   720634003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of coordination   298314008
      Ataxia   20262006
        Hereditary ataxia   763597000
          Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome   720634003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome   720634003

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