Inherited disorder of keratinization   254214009


SNOMED code254214009
nameInherited disorder of keratinization
date introduced2002-01-31
fully specified name(s)Inherited disorder of keratinization (disorder)
  • Inherited disorder of keratinization
  • Inherited disorder of keratinisation
attributes - group2
Finding siteIntegumentary system structure   48075008
Associated morphologyMorphologically abnormal structure   49755003
attributes - group1
Has interpretationAbnormal   263654008
InterpretsKeratinization   44138005
  • Acrokeratosis verruciformis of Hopf   400085009
  • Atrophoderma vermiculatum   2736005
  • Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering   783136007
  • Congenital ichthyosis of skin   13059002
  • Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome   773577009
  • Cutis gyrata syndrome of Beare and Stevenson   703528008
  • Diffuse palmoplantar keratoderma with painful fissures   778062008
  • Disseminated superficial porokeratosis   238633006
  • Erythrokeratoderma   254215005
  • Familial benign pemphigus   79468000
  • Focal palmoplantar keratoderma with joint keratoses   778051008
  • Hereditary acantholytic dermatosis   254217002
  • Hereditary erythrokeratolysis   254216006
  • Hereditary follicular keratoses   254218007
  • Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome   1271009
  • Lelis syndrome   719429003
  • Leukoencephalopathy, palmoplantar keratoderma syndrome   771184001
  • Palmoplantar keratoderma, spastic paralysis syndrome   785725008
  • PLACK syndrome   1237509001
  • Porokeratosis plantaris palmaris et disseminata   718218005
  • Skin fragility, wooly hair, palmoplantar keratoderma syndrome   778010006
  • Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome   722209002
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Disorder of keratinization   277905003
          Inherited disorder of keratinization   254214009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Inherited disorder of keratinization   254214009

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