SOX2 anophthalmia syndrome   698851003

SNOMED CT code


SNOMED code698851003
nameSOX2 anophthalmia syndrome
statusactive
date introduced2014-01-31
fully specified name(s)SOX2 anophthalmia syndrome (disorder)
synonyms
  • AEG - anophthalmia-esophageal-genital syndrome
  • SOX2 anophthalmia syndrome
  • Syndromic microphthalmia 3
  • Anophthalmia-esophageal-genital syndrome
  • SOX2-related eye disorder
attributes - group1
Associated morphologyCongenital smallness   41086002
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteEye structure   81745001
parents
  • Autosomal dominant hereditary disorder   11164009
  • Congenital anomaly of eye   19416009
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of the visual system   363343008
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
              SOX2 anophthalmia syndrome   698851003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Congenital anomaly of visual system   127329003
          Congenital anomaly of eye   19416009
            SOX2 anophthalmia syndrome   698851003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          SOX2 anophthalmia syndrome   698851003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          SOX2 anophthalmia syndrome   698851003

ancestors
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