Brachydactyly, short stature, retinitis pigmentosa syndrome   782914000

SNOMED CT code


SNOMED code782914000
nameBrachydactyly, short stature, retinitis pigmentosa syndrome
statusactive
date introduced2019-07-31
fully specified name(s)Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
synonymsBrachydactyly, short stature, retinitis pigmentosa syndrome
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteBone structure   272673000
Associated morphologyDysplasia   25723000
attributes - group1
OccurrenceCongenital   255399007
Finding siteDigit structure   82680008
Associated morphologyAbnormally short growth   11182007
Pathological processPathological developmental process   308490002
attributes - group3
Finding siteRetinal structure   5665001
Associated morphologyDegenerative abnormality   107669003
attributes - group4
InterpretsHeight / growth measure   271603002
parents
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
              Brachydactyly, short stature, retinitis pigmentosa syndrome   782914000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of general physiological development   271616002
      Disorder of stature   237834000
        Short stature disorder   237836003
          Brachydactyly, short stature, retinitis pigmentosa syndrome   782914000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Brachydactyly, short stature, retinitis pigmentosa syndrome   782914000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Brachydactyly, short stature, retinitis pigmentosa syndrome   782914000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Brachydactyly, short stature, retinitis pigmentosa syndrome   782914000

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, short stature, retinitis pigmentosa syndrome   782914000

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, short stature, retinitis pigmentosa syndrome   782914000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disorder of eye   62585004
          Degeneration of retina   95695004
            Brachydactyly, short stature, retinitis pigmentosa syndrome   782914000

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