Thoracomelic dysplasia   783003009

SNOMED CT code


SNOMED code783003009
nameThoracomelic dysplasia
statusactive
date introduced2019-07-31
fully specified name(s)Thoracomelic dysplasia (disorder)
synonyms
  • Rivera Perez Salas syndrome
  • Thoracolimb dysplasia Rivera type
  • Thoracomelic dysplasia
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteBone structure of pelvis   118645006
Associated morphologyHypoplasia   55199003
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
Finding siteBone structure of rib   113197003
attributes - group3
InterpretsHeight / growth measure   271603002
parents
  • Short stature disorder   237836003
  • Short rib dysplasia   254050009
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Multiple malformation syndrome with limb defect as major feature   41443008
  • Autosomal recessive hereditary disorder   85995004
  • Congenital anomaly of pelvic bones   93017005
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of general physiological development   271616002
      Disorder of stature   237834000
        Short stature disorder   237836003
          Thoracomelic dysplasia   783003009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Short rib dysplasia   254050009
          Thoracomelic dysplasia   783003009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Thoracomelic dysplasia   783003009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Thoracomelic dysplasia   783003009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Multiple malformation syndrome with limb defect as major feature   41443008
                Thoracomelic dysplasia   783003009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Thoracomelic dysplasia   783003009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Bone finding   118953000
        Finding of bone of pelvis   417470001
          Congenital anomaly of pelvic bones   93017005
            Thoracomelic dysplasia   783003009

ancestors
sorted most to least specific
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