Skeletal dysplasia brachydactyly syndrome   733095006

SNOMED CT code


SNOMED code733095006
nameSkeletal dysplasia brachydactyly syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Skeletal dysplasia brachydactyly syndrome (disorder)
synonyms
  • Mononen Karnes Senac syndrome
  • Skeletal dysplasia brachydactyly syndrome
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
OccurrenceCongenital   255399007
Finding siteBone structure   272673000
attributes - group1
Associated morphologyAbnormally short growth   11182007
OccurrenceCongenital   255399007
Finding siteEntire digit   361367007
Pathological processPathological developmental process   308490002
parents
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
            Skeletal dysplasia brachydactyly syndrome   733095006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Sex-linked hereditary disorder   82852009
            X-linked hereditary disease   128430005
              X-linked dominant hereditary disease   1162984000
                Skeletal dysplasia brachydactyly syndrome   733095006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Skeletal dysplasia brachydactyly syndrome   733095006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Skeletal dysplasia brachydactyly syndrome   733095006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Deformity of limb   445144002
        Longitudinal deficiency of part of limb   716638009
          Brachydactyly   43476002
            Skeletal dysplasia brachydactyly syndrome   733095006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Skeletal dysplasia brachydactyly syndrome   733095006

ancestors
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cpt crosswalks

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