Pilodental dysplasia, refractive errors syndrome   771240009

SNOMED CT code


SNOMED code771240009
namePilodental dysplasia, refractive errors syndrome
statusactive
date introduced2019-01-31
fully specified name(s)Pilodental dysplasia, refractive errors syndrome (disorder)
synonyms
  • Kopysc Barczyk Krol syndrome
  • Pilodental dysplasia, refractive errors syndrome
  • Euhidrotic ectodermal dysplasia
attributes - group3
Finding siteVisual structure   49549006
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
attributes - group5
Finding siteHair structure   386045008
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
attributes - group2
Finding siteTooth structure   38199008
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
attributes - group1
Finding siteEctoderm structure   63206006
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
OccurrenceCongenital   255399007
parents
  • Hereditary disorder of tooth   1148766007
  • Ectodermal dysplasia with hair-tooth defects   239027006
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of the integument   363185004
  • Hereditary disorder of the visual system   363343008
  • Disorder of refraction   39021009
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
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
            Pilodental dysplasia, refractive errors syndrome   771240009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of embryonic structure   609521009
        Congenital ectodermal defect   254154003
          Ectodermal dysplasia   8654005
            Ectodermal dysplasia with hair-tooth defects   239027006
              Pilodental dysplasia, refractive errors syndrome   771240009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Pilodental dysplasia, refractive errors syndrome   771240009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Pilodental dysplasia, refractive errors syndrome   771240009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Pilodental dysplasia, refractive errors syndrome   771240009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Disorder of vision   95677002
          Disorder of refraction AND/OR accommodation   72128008
            Disorder of refraction   39021009
              Pilodental dysplasia, refractive errors syndrome   771240009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Pilodental dysplasia, refractive errors syndrome   771240009

ancestors
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