Desbuquois syndrome   254099008

SNOMED CT code


SNOMED code254099008
nameDesbuquois syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Desbuquois syndrome (disorder)
synonyms
  • Desbuquois syndrome
  • Desbuquois dysplasia
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyDysplasia   25723000
Finding siteBone structure   272673000
attributes - group2
Finding siteJoint structure of multiple body sites   773190007
Associated morphologyDislocation   87642003
attributes - group3
Clinical courseProgressive   255314001
attributes - group4
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
Finding siteFace structure   89545001
Pathological processPathological developmental process   308490002
attributes - group5
Due toSpontaneous event   789750003
parents
  • Injury of face   125593007
  • Multiple dislocations with dysplasia   254098000
  • Bone injury   284003005
  • 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
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of face   118930001
          Injury of face   125593007
            Desbuquois syndrome   254099008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic disease of musculoskeletal system   128237006
          Chronic arthropathy   38850007
            Multiple dislocations with dysplasia   254098000
              Desbuquois syndrome   254099008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Traumatic or non-traumatic injury   417163006
        Injury of musculoskeletal system   105606008
          Bone injury   284003005
            Desbuquois syndrome   254099008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Desbuquois syndrome   254099008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Desbuquois syndrome   254099008

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
              Desbuquois syndrome   254099008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Desbuquois syndrome   254099008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Desbuquois syndrome   254099008

ancestors
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