Triphalangeal thumb with brachyectrodactyly syndrome   719951002

SNOMED CT code


SNOMED code719951002
nameTriphalangeal thumb with brachyectrodactyly syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Triphalangeal thumb with brachyectrodactyly syndrome (disorder)
synonyms
  • Triphalangeal thumb with brachyectrodactyly syndrome
  • Carnevale Hernandez del Castillo syndrome
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteEntire digit of hand   283992002
Associated morphologyAbnormally short growth   11182007
attributes - group2
Pathological processPathological developmental process   308490002
Finding siteBone structure of phalanx of thumb   2550002
Associated morphologySupernumerary structure   91431006
OccurrenceCongenital   255399007
parents
  • Autosomal dominant hereditary disorder   11164009
  • Triphalangeal thumb   205308004
  • Brachydactyly of hand   310798000
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
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 with brachyectrodactyly syndrome   719951002

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 with brachyectrodactyly syndrome   719951002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Finding of upper limb   116307009
        Finding of hand region   116311003
          Finding of digit of hand   313132009
            Brachydactyly of hand   310798000
              Triphalangeal thumb with brachyectrodactyly syndrome   719951002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Triphalangeal thumb with brachyectrodactyly syndrome   719951002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Triphalangeal thumb with brachyectrodactyly syndrome   719951002

ancestors
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