Pili torti-deafness syndrome   67817003

SNOMED CT code


SNOMED code67817003
namePili torti-deafness syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Pili torti-deafness syndrome (disorder)
synonyms
  • Pili torti-deafness syndrome
  • Bjornstad's syndrome
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteHair structure   386045008
Associated morphologyTortuosity   15690004
attributes - group4
OccurrenceCongenital   255399007
Finding siteHair shaft structure   37111008
Pathological processPathological developmental process   308490002
Associated morphologyFlattening deformity   20601007
attributes - group2
InterpretsHearing   47078008
Has interpretationImpaired   260379002
attributes - group3
Finding siteAuditory structure   91159003
OccurrenceCongenital   255399007
parents
  • Pili torti   17170005
  • Auditory system hereditary disorder   362991006
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of the integument   363185004
  • Genetic defect of hair shaft   402774006
  • Congenital sensorineural hearing loss   700453005
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    General finding of soft tissue   248402002
      Disorder of soft tissue   19660004
        Congenital deformity of soft tissue   673791000119108
          Pili torti   17170005
            Pili torti-deafness syndrome   67817003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          Pili torti-deafness syndrome   67817003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Pili torti-deafness syndrome   67817003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Pili torti-deafness syndrome   67817003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Genetic defect of hair shaft   402774006
          Pili torti-deafness syndrome   67817003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital hearing disorder   95827002
          Congenital sensorineural hearing loss   700453005
            Pili torti-deafness syndrome   67817003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Pili torti-deafness syndrome   67817003

ancestors
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