Coloboma of macula with brachydactyly type B syndrome   717785002

SNOMED CT code


SNOMED code717785002
nameColoboma of macula with brachydactyly type B syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Coloboma of macula with brachydactyly type B syndrome (disorder)
synonyms
  • Coloboma of macula with brachydactyly type B syndrome
  • Sorsby syndrome
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyAbnormally short growth   11182007
OccurrenceCongenital   255399007
Finding siteEntire digit   361367007
attributes - group1
Pathological processPathological developmental process   308490002
Finding siteBone structure   272673000
Associated morphologyDysplasia   25723000
OccurrenceCongenital   255399007
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteMacula lutea structure   82859000
Associated morphologyDevelopmental failure of fusion   371520008
parents
  • Autosomal dominant hereditary disorder   11164009
  • Hereditary disorder of the visual system   363343008
  • Brachydactyly syndrome type B   389168002
  • Multiple malformation syndrome with limb defect as major feature   41443008
  • Congenital coloboma of macula lutea   737579002
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
              Coloboma of macula with brachydactyly type B syndrome   717785002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Coloboma of macula with brachydactyly type B syndrome   717785002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Brachydactyly syndrome type B   389168002
            Coloboma of macula with brachydactyly type B syndrome   717785002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Multiple malformation syndrome with limb defect as major feature   41443008
                Coloboma of macula with brachydactyly type B syndrome   717785002

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 coloboma of macula lutea   737579002
                  Coloboma of macula with brachydactyly type B syndrome   717785002

ancestors
sorted most to least specific
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