Ablepharon macrostomia syndrome   718575002

SNOMED CT code


SNOMED code718575002
nameAblepharon macrostomia syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Ablepharon macrostomia syndrome (disorder)
synonymsAblepharon macrostomia syndrome
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyDevelopmental failure of fusion   371520008
OccurrenceCongenital   255399007
Finding siteStructure of oral region of face   836005
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteEyelid structure   80243003
Associated morphologyAbsence   418560003
attributes - group3
Due toCongenital failure of fusion between maxillary and mandibular processes   413906003
parents
  • Autosomal dominant hereditary disorder   11164009
  • Ablepharon   13401001
  • Developmental hereditary disorder   363070008
  • Digestive system hereditary disorder   363080007
  • Hereditary disorder of the visual system   363343008
  • Congenital macrostomia   40159009
  • Multiple malformation syndrome with facial defects as major feature   65094009
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
              Ablepharon macrostomia syndrome   718575002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Eyelid finding   246812007
        Disorder of eyelid   60113004
          Congenital anomaly of eyelid   91158006
            Ablepharon   13401001
              Ablepharon macrostomia syndrome   718575002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Ablepharon macrostomia syndrome   718575002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Disorder of digestive system   53619000
        Digestive system hereditary disorder   363080007
          Ablepharon macrostomia syndrome   718575002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Ablepharon macrostomia syndrome   718575002

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
            Congenital macrostomia   40159009
              Ablepharon macrostomia syndrome   718575002

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
              Ablepharon macrostomia syndrome   718575002

ancestors
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