Osteosclerosis, developmental delay, craniosynostosis syndrome   722117000

SNOMED CT code


SNOMED code722117000
nameOsteosclerosis, developmental delay, craniosynostosis syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)
synonymsOsteosclerosis, developmental delay, craniosynostosis syndrome
attributes - group1
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
Pathological processPathological developmental process   308490002
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyBony sclerosis   37748009
OccurrenceCongenital   255399007
Finding siteBone structure   272673000
parents
  • Autosomal dominant hereditary disorder   11164009
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Congenital anomaly of skeletal bone   8447006
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
              Osteosclerosis, developmental delay, craniosynostosis syndrome   722117000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Osteosclerosis, developmental delay, craniosynostosis syndrome   722117000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Osteosclerosis, developmental delay, craniosynostosis syndrome   722117000

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
              Osteosclerosis, developmental delay, craniosynostosis syndrome   722117000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Osteosclerosis, developmental delay, craniosynostosis syndrome   722117000

ancestors
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