X-linked mandibulofacial dysostosis   719813003

SNOMED CT code


SNOMED code719813003
nameX-linked mandibulofacial dysostosis
statusactive
date introduced2017-01-31
fully specified name(s)X-linked mandibulofacial dysostosis (disorder)
synonyms
  • X-linked mandibulofacial dysostosis
  • Mandibulofacial dysostosis Toriello type
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteLimb structure   66019005
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteBone structure of face   91397008
Associated morphologyDysplasia   25723000
parents
  • Dysostosis   109420003
  • X-linked recessive hereditary disease   1162976004
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Congenital anomaly of face bones   32003007
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Lesion of face   767811005
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Dysostosis   109420003
              X-linked mandibulofacial dysostosis   719813003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Sex-linked hereditary disorder   82852009
            X-linked hereditary disease   128430005
              X-linked recessive hereditary disease   1162976004
                X-linked mandibulofacial dysostosis   719813003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Congenital anomaly of limb   60475009
          Multiple malformation syndrome with facial-limb defects as major feature   23359005
            X-linked mandibulofacial dysostosis   719813003

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
              X-linked mandibulofacial dysostosis   719813003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          X-linked mandibulofacial dysostosis   719813003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          X-linked mandibulofacial dysostosis   719813003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of face   118930001
          Lesion of face   767811005
            X-linked mandibulofacial dysostosis   719813003

ancestors
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