Aniridia, ptosis, intellectual disability, familial obesity syndrome   720987001

SNOMED CT code


SNOMED code720987001
nameAniridia, ptosis, intellectual disability, familial obesity syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Aniridia, ptosis, intellectual disability, familial obesity syndrome (disorder)
synonymsAniridia, ptosis, intellectual disability, familial obesity syndrome
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyAbsence   418560003
OccurrenceCongenital   255399007
Finding siteIris structure   41296002
parents
  • Autosomal dominant hereditary disorder   11164009
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of the visual system   363343008
  • Congenital aniridia   69278003
  • Multiple system malformation syndrome   82354003
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
              Aniridia, ptosis, intellectual disability, familial obesity syndrome   720987001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Aniridia, ptosis, intellectual disability, familial obesity syndrome   720987001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Aniridia, ptosis, intellectual disability, familial obesity syndrome   720987001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of sensory organ   1279550006
        Disorder of eye   371405004
          Disorder of anterior segment of eye   128535002
            Congenital anomaly of anterior segment of eye   429448005
              Congenital anomaly of iris   128985003
                Congenital aniridia   69278003
                  Aniridia, ptosis, intellectual disability, familial obesity syndrome   720987001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Aniridia, ptosis, intellectual disability, familial obesity syndrome   720987001

ancestors
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