Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome   1197357008

SNOMED CT code


SNOMED code1197357008
nameColobomatous optic disc, macular atrophy, chorioretinopathy syndrome
statusactive
date introduced2022-02-28
fully specified name(s)Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome (disorder)
synonymsColobomatous optic disc, macular atrophy, chorioretinopathy syndrome
attributes - group2
OccurrenceCongenital   255399007
Finding siteStructure of left optic disc   721899000
Associated morphologyDevelopmental failure of fusion   371520008
Pathological processPathological developmental process   308490002
attributes - group3
OccurrenceCongenital   255399007
Finding siteStructure of right optic disc   721900005
Associated morphologyDevelopmental failure of fusion   371520008
Pathological processPathological developmental process   308490002
attributes - group1
Finding siteMacula lutea structure   82859000
Associated morphologyAtrophy   13331008
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Neurological lesion   299735001
      Congenital coloboma of optic disc   44295002
        Congenital coloboma of right optic disc   15986151000119100
          Bilateral congenital coloboma of optic discs   15986111000119101
            Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome   1197357008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Inherited optic neuropathy   312942003
            Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome   1197357008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome   1197357008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disorder of eye   62585004
          Atrophy of globe of eye   1229938006
            Atrophic retina   405722004
              Atrophy of macula lutea   789220007
                Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome   1197357008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome   1197357008

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