Congenital anomaly of retina   49381001

SNOMED CT code


SNOMED code49381001
nameCongenital anomaly of retina
statusactive
date introduced2002-01-31
fully specified name(s)Congenital anomaly of retina (disorder)
synonyms
  • Congenital malformation of retina
  • Congenital anomaly of retina
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteRetinal structure   5665001
parents
  • Congenital anomaly of posterior segment of eye   128534003
  • Retinal disorder   29555009
children
  • Achromatopsia   56852002
  • Albinotic fundus   55819001
  • Amaurosis hypertrichosis syndrome   720983002
  • Atypical Norrie disease due to monosomy Xp11.3   733626002
  • Blue cone monochromatism   789676005
  • Cholestasis with pigmentary retinopathy and cleft palate syndrome   720636001
  • Cleft lip retinopathy syndrome   732247000
  • Coloboma of retina   204173008
  • Congenital anomaly of left retina   15986751000119101
  • Congenital anomaly of macula   4041005
  • Congenital anomaly of optic disc   60505005
  • Congenital anomaly of right retina   15986471000119104
  • Congenital chorioretinal degeneration   24210004
  • Congenital hypertrophy of retinal pigment epithelium   232074003
  • Congenital retinal aneurysm   943003
  • Congenital retinal fold   204181009
  • Congenital retinoschisis   95493003
  • Congenital stationary night blindness   232061009
  • Congenital stricture of retinal artery   204189006
  • Encephalopathy, intracerebral calcification, retinal degeneration syndrome   733049004
  • Myelinated nerve fiber layer of retina   1237370002
  • Oculotrichodysplasia   722062004
  • Oliver McFarlane syndrome   719944006
  • Oro-facial digital syndrome type 9   718680001
  • Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome   722108000
  • Other congenital retinal changes   204180005  removed: 2010-01-31
  • Retinal arteriovenous malformation   95501007
  • Retinal degeneration, nanophthalmos, glaucoma syndrome   723503006
  • Retinal dysplasia   95494009
  • RHYNS syndrome   723999009
  • Saldino-Mainzer dysplasia   254092004
  • Stickler syndrome   78675000
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of sensory organ   1279550006
        Disorder of eye   371405004
          Disorder of posterior segment of eye   128536001
            Congenital anomaly of posterior segment of eye   128534003
              Congenital anomaly of retina   49381001

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

ancestors
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