Brachydactyly and distal symphalangism syndrome   732956000

SNOMED CT code


SNOMED code732956000
nameBrachydactyly and distal symphalangism syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Brachydactyly and distal symphalangism syndrome (disorder)
synonyms
  • Sillence syndrome
  • Brachydactyly and distal symphalangism syndrome
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteStructure of distal interphalangeal joint   725412007
Associated morphologyAnkylosis   36504009
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyAbnormally short growth   11182007
OccurrenceCongenital   255399007
Finding siteEntire middle phalanx   299710007
parents
  • Autosomal dominant hereditary disorder   11164009
  • Distal interphalangeal joint symphalangism   205281006
  • Brachymesophalangia   205317004
  • Congenital anomaly of bone and joint   237513002
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Multiple malformation syndrome with limb defect as major feature   41443008
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Brachydactyly and distal symphalangism syndrome   732956000

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
            Symphalangism   253975004
              Distal interphalangeal joint symphalangism   205281006
                Brachydactyly and distal symphalangism syndrome   732956000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Deformity   417893002
      Deformation of bone   298356007
        Brachyphalangia   38998004
          Brachymesophalangia   205317004
            Brachydactyly and distal symphalangism syndrome   732956000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Congenital anomaly of bone and joint   237513002
              Brachydactyly and distal symphalangism syndrome   732956000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Brachydactyly and distal symphalangism syndrome   732956000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Brachydactyly and distal symphalangism syndrome   732956000

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
                Brachydactyly and distal symphalangism syndrome   732956000

ancestors
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