Uveal coloboma with cleft lip and palate and intellectual disability syndrome   719042007

SNOMED CT code


SNOMED code719042007
nameUveal coloboma with cleft lip and palate and intellectual disability syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder)
synonymsUveal coloboma with cleft lip and palate and intellectual disability syndrome
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyDevelopmental failure of fusion   371520008
OccurrenceCongenital   255399007
Finding sitePalatal structure   72914001
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyDevelopmental failure of fusion   371520008
OccurrenceCongenital   255399007
Finding siteLip structure   48477009
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyDevelopmental failure of fusion   371520008
OccurrenceCongenital   255399007
Finding siteIris structure   41296002
attributes - group4
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group5
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Autosomal dominant hereditary disorder   11164009
  • Developmental hereditary disorder   363070008
  • Digestive system hereditary disorder   363080007
  • Hereditary disorder of the visual system   363343008
  • Congenital coloboma of iris   51485001
  • Cleft palate with cleft lip   66948001
  • Multiple system malformation syndrome   82354003
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Uveal coloboma with cleft lip and palate and intellectual disability syndrome   719042007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Uveal coloboma with cleft lip and palate and intellectual disability syndrome   719042007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Uveal coloboma with cleft lip and palate and intellectual disability syndrome   719042007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Disorder of digestive system   53619000
        Digestive system hereditary disorder   363080007
          Uveal coloboma with cleft lip and palate and intellectual disability syndrome   719042007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Uveal coloboma with cleft lip and palate and intellectual disability syndrome   719042007

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
            Coloboma of eye   93390002
              Congenital coloboma of iris   51485001
                Uveal coloboma with cleft lip and palate and intellectual disability syndrome   719042007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of head and neck region   118254002
      Head finding   406122000
        Finding of head region   298364001
          Orofacial cleft   449790007
            Cleft lip   80281008
              Cleft palate with cleft lip   66948001
                Uveal coloboma with cleft lip and palate and intellectual disability syndrome   719042007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Uveal coloboma with cleft lip and palate and intellectual disability syndrome   719042007

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