Retinitis pigmentosa-deafness syndrome   57838006

SNOMED CT code


SNOMED code57838006
nameRetinitis pigmentosa-deafness syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Retinitis pigmentosa-deafness syndrome (disorder)
synonyms
  • Usher syndrome
  • Retinitis pigmentosa-deafness syndrome
  • Usher's syndrome
attributes - group2
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
attributes - group4
OccurrenceCongenital   255399007
Finding siteAuditory structure   91159003
attributes - group1
Associated morphologyDystrophy   4720007
Finding siteRetinal structure   5665001
attributes - group3
InterpretsHearing   47078008
parents
  • Autosomal recessive retinitis pigmentosa   232053004
  • Congenital malformation   276654001
  • Auditory system hereditary disorder   362991006
  • Developmental hereditary disorder   363070008
  • Congenital sensorineural hearing loss   700453005
children
  • Retinitis pigmentosa-deafness syndrome type 3   1010610007
  • Retinitis pigmentosa-deafness-ataxia syndrome   73119000
  • Usher syndrome type 1   232057003
  • Usher syndrome type 2   232058008
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
                Retinitis pigmentosa-deafness syndrome   57838006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Retinitis pigmentosa-deafness syndrome   57838006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          Retinitis pigmentosa-deafness syndrome   57838006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Retinitis pigmentosa-deafness syndrome   57838006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital hearing disorder   95827002
          Congenital sensorineural hearing loss   700453005
            Retinitis pigmentosa-deafness syndrome   57838006

ancestors
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