Long thumb brachydactyly syndrome   733454004

SNOMED CT code


SNOMED code733454004
nameLong thumb brachydactyly syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Long thumb brachydactyly syndrome (disorder)
synonyms
  • Brachydactyly long thumb type
  • Long thumb brachydactyly syndrome
attributes - group3
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteBone structure   272673000
Associated morphologyDysplasia   25723000
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteHeart structure   80891009
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteThumb structure   76505004
Associated morphologyAbnormally long growth   67946009
attributes - group4
Pathological processPathological developmental process   308490002
Associated morphologyAbnormally short growth   11182007
OccurrenceCongenital   255399007
Finding siteDigit structure   82680008
parents
  • Dysostosis   109420003
  • Autosomal dominant hereditary disorder   11164009
  • Congenital deformity of hand   1230354001
  • Deformity of thumb   299130003
  • Cardiovascular system hereditary disorder   363005004
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Congenital malformation of thumb   394910004
  • Multiple malformation syndrome with limb defect as major feature   41443008
  • Brachydactyly   43476002
  • Cardiac arrhythmia associated with genetic disorder   698270004
  • Congenital cardiovascular disorder   762228008
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
              Long thumb brachydactyly syndrome   733454004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Long thumb brachydactyly syndrome   733454004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Deformity   417893002
      Congenital deformity   276655000
        Congenital deformity of upper limb   1230271002
          Congenital deformity of hand   1230354001
            Long thumb brachydactyly syndrome   733454004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Finding of upper limb   116307009
        Finding of hand region   116311003
          Deformity of hand   299033004
            Deformity of thumb   299130003
              Long thumb brachydactyly syndrome   733454004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Disorder of cardiovascular system   49601007
        Cardiovascular system hereditary disorder   363005004
          Long thumb brachydactyly syndrome   733454004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Long thumb brachydactyly syndrome   733454004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Long thumb brachydactyly syndrome   733454004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Disorder of digit   128597007
          Congenital anomaly of digit   403855001
            Congenital malformation of thumb   394910004
              Long thumb brachydactyly syndrome   733454004

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
                Long thumb brachydactyly syndrome   733454004

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
            Long thumb brachydactyly syndrome   733454004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Cardiac finding   301095005
        Heart disease   56265001
          Cardiac arrhythmia   698247007
            Cardiac arrhythmia associated with genetic disorder   698270004
              Long thumb brachydactyly syndrome   733454004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Disorder of cardiovascular system   49601007
        Congenital cardiovascular disorder   762228008
          Long thumb brachydactyly syndrome   733454004

ancestors
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