Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome   773557002

SNOMED CT code


SNOMED code773557002
nameMandibulofacial dysostosis, macroblepharon, macrostomia syndrome
statusactive
date introduced2019-01-31
fully specified name(s)Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome (disorder)
synonyms
  • Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome
  • Macroblepharon, ectropion, hypertelorism, macrostomia syndrome
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
Finding siteSphenoid bone structure   73117003
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
Finding siteBone structure of face   91397008
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of skull   118945008
          Congenital anomaly of skull   51655004
            Dysostosis of bone of skull   128219005
              Sphenoidal dysostosis   109414004
                Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome   773557002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of skull   118945008
          Congenital anomaly of skull   51655004
            Hypertelorism   22006008
              Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome   773557002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Bone finding   118953000
        Facial bone finding   248398006
          Disorder of facial bone   128225009
            Congenital anomaly of face bones   32003007
              Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome   773557002

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
              Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome   773557002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of face   118930001
          Lesion of face   767811005
            Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome   773557002

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