Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome   764995008

SNOMED CT code


SNOMED code764995008
nameNail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome
statusactive
date introduced2018-07-31
fully specified name(s)Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome (disorder)
synonyms
  • Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome
  • Ectodermal dysplasia short stature syndrome
  • Short stature, nail dysplasia, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyHyperkeratosis   26996000
Finding siteSkin structure   39937001
attributes - group5
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteTooth structure   38199008
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteOral mucous membrane structure   113277000
Associated morphologyMelanosis   48010006
attributes - group4
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteNail unit structure   770802007
OccurrenceCongenital   255399007
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
OccurrenceCongenital   255399007
Finding siteEctoderm structure   63206006
attributes - group6
InterpretsColor of oral mucosa   249402008
attributes - group8
Associated morphologyHyperkeratosis   26996000
Finding siteSkin structure of palmar area of hand   70887009
attributes - group7
Finding siteSkin structure of sole of foot   37136002
Associated morphologyHyperkeratosis   26996000
attributes - group9
InterpretsHeight / growth measure   271603002
parents
  • Congenital anomaly of oral mucosa   109434003
  • Hereditary disorder of tooth   1148766007
  • Melanin pigmentation of oral mucosa   235038002
  • Short stature disorder   237836003
  • Ectodermal dysplasia with tooth-nail defects   239040001
  • Hereditary palmoplantar keratoderma   239066003
  • Developmental hereditary disorder   363070008
  • Genetic disorder of nail   402775007
  • Melanosis of mucosa of body orifice   724847001
  • Autosomal recessive hereditary disorder   85995004
  • Congenital melanosis   86042009
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    General finding of soft tissue   248402002
      Oral mucosa finding   249400000
        Disorder of oral mucous membrane   128046007
          Congenital anomaly of oral mucosa   109434003
            Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome   764995008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Disorder of digestive system   53619000
        Digestive system hereditary disorder   363080007
          Hereditary disorder of tooth   1148766007
            Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome   764995008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Color finding   107650008
      Melanin pigmentation of oral mucosa   235038002
        Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome   764995008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of general physiological development   271616002
      Disorder of stature   237834000
        Short stature disorder   237836003
          Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome   764995008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental abnormality of nail   238715009
          Congenital anomaly of nail   35964007
            Ectodermal dysplasia with nail defect   239046007
              Ectodermal dysplasia with tooth-nail defects   239040001
                Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome   764995008

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
            Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome   764995008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome   764995008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Genetic disorder of nail   402775007
          Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome   764995008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Melanosis   414662006
          Melanosis of mucosa of body orifice   724847001
            Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome   764995008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome   764995008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital melanosis   86042009
          Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome   764995008

ancestors
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