Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome   723452007

SNOMED CT code


SNOMED code723452007
namePolyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder)
synonyms
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
  • PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract) syndrome
  • PHARC syndrome
  • Peripheral neuropathy Fiskerstrand type
attributes - group1
Finding siteAuditory structure   91159003
attributes - group4
InterpretsHearing   47078008
attributes - group2
Finding sitePeripheral nerve structure   84782009
attributes - group3
Associated morphologyDystrophy   4720007
Finding siteRetinal structure   5665001
parents
  • Autosomal recessive retinitis pigmentosa   232053004
  • Hearing loss associated with syndrome   232333009
  • Disorder of lipid metabolism   267431006
  • Auditory system hereditary disorder   362991006
  • Hereditary disorder of nervous system   363235000
  • Polyneuropathy   42345000
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 recessive hereditary disorder   85995004
              Autosomal recessive retinitis pigmentosa   232053004
                Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome   723452007

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
              Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome   723452007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of lipoprotein AND/OR lipid metabolism   48286001
          Disorder of lipid metabolism   267431006
            Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome   723452007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome   723452007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Hereditary disorder of nervous system   363235000
            Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome   723452007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    General finding of soft tissue   248402002
      Disorder of soft tissue   19660004
        Peripheral nerve disease   302226006
          Polyneuropathy   42345000
            Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome   723452007

ancestors
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