Triphalangeal thumb and polysyndactyly syndrome   719950001

SNOMED CT code


SNOMED code719950001
nameTriphalangeal thumb and polysyndactyly syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Triphalangeal thumb and polysyndactyly syndrome (disorder)
synonymsTriphalangeal thumb and polysyndactyly syndrome
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyCongenital abnormal fusion   37764001
Finding siteDigit structure   82680008
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologySupernumerary structure   91431006
Finding siteBone structure of phalanx of thumb   2550002
parents
  • Autosomal dominant hereditary disorder   11164009
  • Triphalangeal thumb   205308004
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Multiple malformation syndrome with limb defect as major feature   41443008
  • Polysyndactyly   84598000
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
              Triphalangeal thumb and polysyndactyly syndrome   719950001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Finding of musculoskeletal structure of digit of hand   299055007
        Finding of musculoskeletal structure of thumb   299128000
          Triphalangeal thumb   205308004
            Triphalangeal thumb and polysyndactyly syndrome   719950001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Triphalangeal thumb and polysyndactyly syndrome   719950001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Triphalangeal thumb and polysyndactyly syndrome   719950001

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
                Triphalangeal thumb and polysyndactyly syndrome   719950001

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
            Polydactyly   367506006
              Polysyndactyly   84598000
                Triphalangeal thumb and polysyndactyly syndrome   719950001

ancestors
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