Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome   1237413006

SNOMED CT code


SNOMED code1237413006
nameProgressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome
statusactive
date introduced2022-09-30
fully specified name(s)Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder)
synonyms
  • Lichtenstein Knorr syndrome
  • SCAR19 - spinocerebellar ataxia, autosomal recessive 19
  • Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome
  • Progressive autosomal recessive ataxia, deafness syndrome
attributes - group2
Clinical courseProgressive   255314001
attributes - group3
Finding siteCerebellar structure   113305005
attributes - group4
Finding siteAuditory structure   91159003
attributes - group1
InterpretsHearing   47078008
Has interpretationDecreased   1250004
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Hearing finding   118230007
        Decreased hearing   103276001
          Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome   1237413006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome   1237413006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Hearing finding   118230007
        Hearing disorder   128540005
          Hearing loss   15188001
            Sensorineural hearing loss   60700002
              Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome   1237413006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of coordination   298314008
      Ataxia   20262006
        Hereditary ataxia   763597000
          Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome   1237413006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic nervous system disorder   128283000
          Chronic brain syndrome   78689005
            Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome   1237413006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of coordination   298314008
      Ataxia   20262006
        Cerebellar ataxia   85102008
          Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome   1237413006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome   1237413006

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