Skin fragility, wooly hair, palmoplantar keratoderma syndrome   778010006

SNOMED CT code


SNOMED code778010006
nameSkin fragility, wooly hair, palmoplantar keratoderma syndrome
statusactive
date introduced2019-01-31
fully specified name(s)Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder)
synonyms
  • Skin fragillity, woolly hair, palmoplantar keratoderma syndrome
  • Skin fragility, wooly hair, palmoplantar keratoderma syndrome
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteEctoderm structure   63206006
Associated morphologyDysplasia   25723000
attributes - group3
OccurrenceCongenital   255399007
Associated morphologyHyperkeratosis   26996000
Pathological processPathological developmental process   308490002
Finding siteSkin structure   39937001
attributes - group1
Finding siteHair shaft structure   37111008
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
attributes - group4
Has interpretationAbnormal   263654008
InterpretsKeratinization   44138005
attributes - group6
Associated morphologyHyperkeratosis   26996000
Finding siteEntire skin of sole of foot   181566006
attributes - group5
Associated morphologyHyperkeratosis   26996000
Finding siteEntire skin of palmar area of hand   181544004
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
            Skin fragility, wooly hair, palmoplantar keratoderma syndrome   778010006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Disorder of keratinization   277905003
          Inherited disorder of keratinization   254214009
            Skin fragility, wooly hair, palmoplantar keratoderma syndrome   778010006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Genetic defect of hair shaft   402774006
          Congenital wooly hair   254231002
            Skin fragility, wooly hair, palmoplantar keratoderma syndrome   778010006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Skin fragility, wooly hair, palmoplantar keratoderma syndrome   778010006

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
              Skin fragility, wooly hair, palmoplantar keratoderma syndrome   778010006

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
            Skin fragility, wooly hair, palmoplantar keratoderma syndrome   778010006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of embryonic structure   609521009
        Congenital ectodermal defect   254154003
          Ectodermal dysplasia   8654005
            Skin fragility, wooly hair, palmoplantar keratoderma syndrome   778010006

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