Flat face, microstomia, ear anomaly syndrome   773750003

SNOMED CT code


SNOMED code773750003
nameFlat face, microstomia, ear anomaly syndrome
statusactive
date introduced2019-01-31
fully specified name(s)Flat face, microstomia, ear anomaly syndrome (disorder)
synonyms
  • Simosa Penchaszadeh Bustos syndrome
  • Blepharophimosis, telecanthus, microstomia syndrome
  • Flat face, microstomia, ear anomaly syndrome
  • Simosa craniofacial syndrome
attributes - group3
Associated morphologyCongenital smallness   41086002
OccurrenceCongenital   255399007
Finding siteMouth region structure   123851003
Pathological processPathological developmental process   308490002
attributes - group2
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteEar structure   117590005
attributes - group1
Finding siteFace structure   89545001
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
parents
  • Autosomal dominant hereditary disorder   11164009
  • Microstomia   14582003
  • Congenital malformation of ear   275259005
  • Auditory system hereditary disorder   362991006
  • Developmental hereditary disorder   363070008
  • Digestive system hereditary disorder   363080007
  • 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
              Flat face, microstomia, ear anomaly syndrome   773750003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disease of mouth   118938008
          Congenital anomaly of mouth   128334002
            Microstomia   14582003
              Flat face, microstomia, ear anomaly syndrome   773750003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of sensory organ   1279550006
        Disorder of ear   25906001
          Congenital malformation of ear   275259005
            Flat face, microstomia, ear anomaly syndrome   773750003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          Flat face, microstomia, ear anomaly syndrome   773750003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Flat face, microstomia, ear anomaly syndrome   773750003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Disorder of digestive system   53619000
        Digestive system hereditary disorder   363080007
          Flat face, microstomia, ear anomaly syndrome   773750003

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
              Flat face, microstomia, ear anomaly syndrome   773750003

ancestors
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