Pelviscapular dysplasia   719299009

SNOMED CT code


SNOMED code719299009
namePelviscapular dysplasia
statusactive
date introduced2017-01-31
fully specified name(s)Pelviscapular dysplasia syndrome (disorder)
synonyms
  • Pelviscapular dysplasia
  • Cousin syndrome
  • Familial pelvis-scapular dysplasia
  • Pelviscapular dysplasia syndrome
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteBone structure of extremity   48566001
Associated morphologyDysplasia   25723000
attributes - group2
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
parents
  • Dysostosis   109420003
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Autosomal recessive hereditary disorder   85995004
  • Congenital dysplasia of limb   88631000119105
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
              Pelviscapular dysplasia   719299009

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
            Pelviscapular dysplasia   719299009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Pelviscapular dysplasia   719299009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Pelviscapular dysplasia   719299009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Pelviscapular dysplasia   719299009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Congenital anomaly of limb   60475009
          Congenital dysplasia of limb   88631000119105
            Pelviscapular dysplasia   719299009

ancestors
sorted most to least specific
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