Fibular aplasia and ectrodactyly syndrome   720952001

SNOMED CT code


SNOMED code720952001
nameFibular aplasia and ectrodactyly syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Aplasia of fibula and ectrodactyly syndrome (disorder)
synonyms
  • Fibular aplasia and ectrodactyly syndrome
  • Familial ectrodactyly with fibular aplasia
  • Aplasia of fibula and ectrodactyly syndrome
attributes - group2
Associated morphologyAplasia   45486003
OccurrenceCongenital   255399007
Finding siteBone structure of fibula   87342007
Pathological processPathological developmental process   308490002
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteEntire digit   361367007
Associated morphologyAbsence   418560003
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
OccurrenceCongenital   255399007
Finding siteBone structure   272673000
parents
  • Dysostosis   109420003
  • Autosomal dominant hereditary disorder   11164009
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Multiple malformation syndrome with limb defect as major feature   41443008
  • Congenital absence of fibula   74245009
  • Ectrodactyly   81208006
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
              Fibular aplasia and ectrodactyly syndrome   720952001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Fibular aplasia and ectrodactyly syndrome   720952001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Fibular aplasia and ectrodactyly syndrome   720952001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Fibular aplasia and ectrodactyly syndrome   720952001

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
                Fibular aplasia and ectrodactyly syndrome   720952001

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 fibula   74245009
              Fibular aplasia and ectrodactyly syndrome   720952001

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
                Fibular aplasia and ectrodactyly syndrome   720952001

ancestors
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