Foveal hypoplasia with presenile cataract syndrome   778042000

SNOMED CT code


SNOMED code778042000
nameFoveal hypoplasia with presenile cataract syndrome
statusactive
date introduced2019-01-31
fully specified name(s)Foveal hypoplasia with presenile cataract syndrome (disorder)
synonyms
  • O'Donnell Pappas syndrome
  • Foveal hypoplasia with presenile cataract syndrome
attributes - group1
Finding siteStructure of fovea centralis   67046006
Pathological processPathological developmental process   308490002
Associated morphologyHypoplasia   55199003
OccurrenceCongenital   255399007
attributes - group3
InterpretsOcular motility observable   31763002
attributes - group2
Finding siteLens clear   78076003
Associated morphologyOpacity   128305008
parents
  • Autosomal dominant hereditary disorder   11164009
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of the visual system   363343008
  • Congenital hypoplasia of fovea centralis   429449002
  • Presenile cataract   441622000
  • Congenital nystagmus   64635004
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
            Autosomal dominant hereditary disorder   11164009
              Foveal hypoplasia with presenile cataract syndrome   778042000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Foveal hypoplasia with presenile cataract syndrome   778042000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Foveal hypoplasia with presenile cataract syndrome   778042000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Globe finding   246915008
        Retina finding   399858007
          Macula finding   247143009
            Macular disorder   312999006
              Congenital anomaly of macula   4041005
                Congenital hypoplasia of fovea centralis   429449002
                  Foveal hypoplasia with presenile cataract syndrome   778042000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disorder of eye   62585004
          Cataract   193570009
            Presenile cataract   441622000
              Foveal hypoplasia with presenile cataract syndrome   778042000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital nystagmus   64635004
          Foveal hypoplasia with presenile cataract syndrome   778042000

ancestors
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