Syndromic microphthalmia type 5   718761007

SNOMED CT code


SNOMED code718761007
nameSyndromic microphthalmia type 5
statusactive
date introduced2017-01-31
fully specified name(s)Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder)
synonyms
  • Syndromic microphthalmia due to orthodenticle homeobox 2 mutation
  • Syndromic microphthalmia type 5
  • Syndromic microphthalmia due to OTX2 mutation
attributes - group1
Pathological processPathological developmental process   308490002
Finding siteEntire eye proper   1290040004
Associated morphologyCongenital smallness   41086002
OccurrenceCongenital   255399007
parents
  • Autosomal dominant hereditary disorder   11164009
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of the visual system   363343008
  • Microphthalmos   61142002
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
              Syndromic microphthalmia type 5   718761007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Syndromic microphthalmia type 5   718761007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Syndromic microphthalmia type 5   718761007

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
            Microphthalmos   61142002
              Syndromic microphthalmia type 5   718761007

ancestors
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