Tibial aplasia and ectrodactyly syndrome   715531000

SNOMED CT code


SNOMED code715531000
nameTibial aplasia and ectrodactyly syndrome
statusactive
date introduced2016-07-31
fully specified name(s)Tibial aplasia and ectrodactyly syndrome (disorder)
synonyms
  • Tibial aplasia and ectrodactyly syndrome
  • Aplasia of tibia with split hand split foot deformity
  • Tibial hemimelia ectrodactyly syndrome
  • Split hand foot malformation with long bone deficiency
attributes - group1
OccurrenceCongenital   255399007
Associated morphologyAplasia   45486003
Pathological processPathological developmental process   308490002
Finding siteBone structure of tibia   12611008
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyAbsence   418560003
OccurrenceCongenital   255399007
Finding siteEntire digit   361367007
parents
  • Autosomal dominant hereditary disorder   11164009
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Congenital absence of tibia   79177001
  • Ectrodactyly   81208006
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
              Tibial aplasia and ectrodactyly syndrome   715531000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Tibial aplasia and ectrodactyly syndrome   715531000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Tibial aplasia and ectrodactyly syndrome   715531000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Bone finding   118953000
        Bone absent   298350001
          Congenital absence of skeletal bone   127328006
            Congenital absence of tibia   79177001
              Tibial aplasia and ectrodactyly syndrome   715531000

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
            Adactyly   275348004
              Ectrodactyly   81208006
                Tibial aplasia and ectrodactyly syndrome   715531000

ancestors
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