Cleft lip retinopathy syndrome   732247000

SNOMED CT code


SNOMED code732247000
nameCleft lip retinopathy syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Cleft lip retinopathy syndrome (disorder)
synonyms
  • Cleft lip retinopathy syndrome
  • Ausems Wittebol Post Hennekam syndrome
attributes - group2
OccurrenceCongenital   255399007
Finding siteRetinal structure   5665001
Associated morphologyDystrophy   4720007
Pathological processPathological developmental process   308490002
attributes - group1
Finding siteLip structure   48477009
Associated morphologyDevelopmental failure of fusion   371520008
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
parents
  • Autosomal recessive retinitis pigmentosa   232053004
  • Developmental hereditary disorder   363070008
  • Digestive system hereditary disorder   363080007
  • Congenital anomaly of retina   49381001
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Cleft lip   80281008
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 recessive hereditary disorder   85995004
              Autosomal recessive retinitis pigmentosa   232053004
                Cleft lip retinopathy syndrome   732247000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Cleft lip retinopathy syndrome   732247000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Disorder of digestive system   53619000
        Digestive system hereditary disorder   363080007
          Cleft lip retinopathy syndrome   732247000

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
              Cleft lip retinopathy syndrome   732247000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of face   118930001
          Congenital anomaly of face   398302004
            Multiple malformation syndrome with facial defects as major feature   65094009
              Cleft lip retinopathy syndrome   732247000

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 lip retinopathy syndrome   732247000

ancestors
sorted most to least specific
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