Craniofacial conodysplasia syndrome   720754008

SNOMED CT code


SNOMED code720754008
nameCraniofacial conodysplasia syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Craniofacial conodysplasia syndrome (disorder)
synonymsCraniofacial conodysplasia syndrome
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteLimb structure   66019005
Associated morphologyMorphologically abnormal structure   49755003
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
OccurrenceCongenital   255399007
Finding siteBone structure of cranium   89546000
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteBone structure of face   91397008
Associated morphologyDysplasia   25723000
parents
  • Skeletal dysplasia   105986008
  • Autosomal dominant hereditary disorder   11164009
  • 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
  • Congenital anomaly of skull   51655004
  • Lesion of face   767811005
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Disorder of skeletal system   88230002
          Skeletal dysplasia   105986008
            Craniofacial conodysplasia syndrome   720754008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Craniofacial conodysplasia syndrome   720754008

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
            Craniofacial conodysplasia syndrome   720754008

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
              Craniofacial conodysplasia syndrome   720754008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Craniofacial conodysplasia syndrome   720754008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Craniofacial conodysplasia syndrome   720754008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of skull   118945008
          Congenital anomaly of skull   51655004
            Craniofacial conodysplasia syndrome   720754008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of face   118930001
          Lesion of face   767811005
            Craniofacial conodysplasia syndrome   720754008

ancestors
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