Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome   1271009

SNOMED CT code


SNOMED code1271009
nameKnuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)
synonyms
  • Bart-Pumphrey syndrome
  • Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteNail unit structure   770802007
attributes - group5
InterpretsHearing   47078008
Has interpretationImpaired   260379002
attributes - group7
OccurrenceCongenital   255399007
Finding siteAuditory structure   91159003
attributes - group6
Finding siteEntire skin of palmar area of hand   181544004
Associated morphologyHyperkeratosis   26996000
attributes - group8
Finding siteEntire skin of sole of foot   181566006
Associated morphologyHyperkeratosis   26996000
attributes - group2
Associated morphologyPad   90599004
Finding siteSkin of part of fingers and thumb   281644008
attributes - group4
InterpretsColor of nail   247505001
attributes - group3
Has interpretationAbnormal   263654008
InterpretsKeratinization   44138005
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
              Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome   1271009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Disorder of digit   128597007
          Knuckle pads   16687001
            Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome   1271009

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
              Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome   1271009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Disorder of keratinization   277905003
          Inherited disorder of keratinization   254214009
            Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome   1271009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome   1271009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome   1271009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Hereditary palmoplantar keratoderma   239066003
            Hereditary diffuse palmoplantar keratoderma   400123002
              Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome   1271009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Genetic disorder of nail   402775007
          Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome   1271009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Color finding   107650008
      Color of nails - finding   366655003
        Nail discoloration   89077005
          Leukonychia   111202002
            Congenital leukonychia   47139007
              Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome   1271009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital hearing disorder   95827002
          Congenital sensorineural hearing loss   700453005
            Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome   1271009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Finding of upper limb   116307009
        Finding of hand region   116311003
          Rough skin of hands   829993001
            Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome   1271009

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