Oculotrichodysplasia   722062004

SNOMED CT code


SNOMED code722062004
nameOculotrichodysplasia
statusactive
date introduced2017-01-31
fully specified name(s)Oculotrichodysplasia (disorder)
synonyms
  • Oculotrichodysplasia
  • Cecatto de Lima Pinheiro syndrome
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteEctoderm structure   63206006
Associated morphologyDysplasia   25723000
attributes - group1
OccurrenceCongenital   255399007
Associated morphologyDystrophy   4720007
Finding siteRetinal structure   5665001
Pathological processPathological developmental process   308490002
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteNail unit structure   770802007
OccurrenceCongenital   255399007
attributes - group5
Finding siteHair structure   386045008
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
attributes - group4
Finding siteTooth structure   38199008
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
parents
  • Hereditary disorder of tooth   1148766007
  • Autosomal recessive retinitis pigmentosa   232053004
  • Ectodermal dysplasia with hair-tooth-nail defects   239015008
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of the integument   363185004
  • Genetic disorder of nail   402775007
  • Congenital anomaly of retina   49381001
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
            Oculotrichodysplasia   722062004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Autosomal recessive retinitis pigmentosa   232053004
                Oculotrichodysplasia   722062004

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
              Ectodermal dysplasia with hair-tooth-nail defects   239015008
                Oculotrichodysplasia   722062004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Oculotrichodysplasia   722062004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Oculotrichodysplasia   722062004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Genetic disorder of nail   402775007
          Oculotrichodysplasia   722062004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Globe finding   246915008
        Retina finding   399858007
          Retinal disorder   29555009
            Congenital anomaly of retina   49381001
              Oculotrichodysplasia   722062004

ancestors
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