Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome   1230005002

SNOMED CT code


SNOMED code1230005002
namePigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome
statusactive
date introduced2022-05-31
fully specified name(s)Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder)
synonymsPigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome
attributes - group1
OccurrenceCongenital   255399007
Finding siteEctoderm structure   63206006
Associated morphologyDysplasia   25723000
Pathological processPathological developmental process   308490002
attributes - group4
OccurrenceCongenital   255399007
Finding siteHair structure   386045008
Associated morphologyAbsence   418560003
Pathological processPathological developmental process   308490002
attributes - group5
OccurrenceCongenital   255399007
Finding siteNail unit structure   770802007
Associated morphologyDystrophy   4720007
Pathological processPathological developmental process   308490002
attributes - group2
Finding siteEntire skin of palmar area of hand   181544004
Associated morphologyHyperkeratosis   26996000
attributes - group3
Finding siteEntire skin of sole of foot   181566006
Associated morphologyHyperkeratosis   26996000
attributes - group6
Finding siteSkin structure   39937001
Associated morphologyPigment alteration   79644001
parents
  • Ectodermal dysplasia with hair-nail defect   239035009
  • Congenital alopecia   2965006
  • Developmental hereditary disorder   363070008
  • Hereditary diffuse palmoplantar keratoderma   400123002
  • Genetic disorder of nail   402775007
  • Hereditary cancer-predisposing syndrome   699346009
  • Genetic disorder of skin pigmentation   724839001
  • Autosomal recessive hereditary disorder   85995004
  • Dystrophia unguium   87065009
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Congenital anomaly of integument   38164009
          Congenital anomaly of skin   199879009
            Congenital anomaly of hair   65033000
              Ectodermal dysplasia with hair-nail defect   239035009
                Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome   1230005002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Congenital anomaly of integument   38164009
          Congenital anomaly of skin   199879009
            Congenital anomaly of hair   65033000
              Congenital alopecia   2965006
                Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome   1230005002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome   1230005002

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
              Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome   1230005002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Genetic disorder of nail   402775007
          Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome   1230005002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Hereditary cancer-predisposing syndrome   699346009
            Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome   1230005002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Genetic disorder of skin pigmentation   724839001
          Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome   1230005002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome   1230005002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative skin disorder   396325007
          Dystrophia unguium   87065009
            Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome   1230005002

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