Brachydactyly syndrome type B   389168002

SNOMED CT code


SNOMED code389168002
nameBrachydactyly syndrome type B
statusactive
date introduced2003-01-31
fully specified name(s)Brachydactyly syndrome type B (disorder)
synonymsBrachydactyly syndrome type B
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyAbnormally short growth   11182007
OccurrenceCongenital   255399007
Finding siteEntire digit   361367007
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
OccurrenceCongenital   255399007
Finding siteBone structure   272673000
parents
  • Acromesomelic dysplasia syndrome   279082008
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Brachydactyly   43476002
  • Autosomal recessive hereditary disorder   85995004
childrenColoboma of macula with brachydactyly type B syndrome   717785002
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
            Acromesomelic dysplasia syndrome   279082008
              Brachydactyly syndrome type B   389168002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Brachydactyly syndrome type B   389168002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Brachydactyly syndrome type B   389168002

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
            Brachydactyly syndrome type B   389168002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Brachydactyly syndrome type B   389168002

ancestors
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cpt crosswalks

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