Arthrogryposis and ectodermal dysplasia syndrome   786039009

SNOMED CT code


SNOMED code786039009
nameArthrogryposis and ectodermal dysplasia syndrome
statusactive
date introduced2019-07-31
fully specified name(s)Arthrogryposis and ectodermal dysplasia syndrome (disorder)
synonyms
  • Arthrogryposis and ectodermal dysplasia syndrome
  • Stoll Alembik Finck syndrome
  • Arthrogryposis, ectodermal dysplasia, other anomalies syndrome
attributes - group2
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteTooth structure   38199008
attributes - group3
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
Associated morphologyMorphologically abnormal structure   49755003
attributes - group5
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteMusculoskeletal structure of digit of hand   310792004
Associated morphologyFixed flexion deformity   788600005
attributes - group4
Associated morphologyContracture   57048009
OccurrenceCongenital   255399007
Finding siteStructure of joint region   785818007
Pathological processPathological developmental process   308490002
attributes - group1
Associated morphologyDysplasia   25723000
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteEctoderm structure   63206006
attributes - group6
Has interpretationDecreased   1250004
InterpretsRange of joint movement   364564000
attributes - group8
Finding siteHair structure   386045008
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group7
Finding siteNail unit structure   770802007
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
parents
  • Hereditary disorder of tooth   1148766007
  • Congenital deformity of hand   1230354001
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Ectodermal dysplasia with hair-tooth-nail defects   239015008
  • Distal arthrogryposis syndrome   24269006
  • Inherited arthrogryposis   28204005
  • Camptodactyly   29271008
  • Finding of musculoskeletal structure of digit of hand   299055007
  • Flexion deformity of hand   309463003
  • Hereditary disorder of the integument   363185004
  • Hereditary disorder of musculoskeletal system   363212003
  • Genetic disorder of nail   402775007
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Disorder of digestive system   53619000
        Digestive system hereditary disorder   363080007
          Hereditary disorder of tooth   1148766007
            Arthrogryposis and ectodermal dysplasia syndrome   786039009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Deformity   417893002
      Congenital deformity   276655000
        Congenital deformity of upper limb   1230271002
          Congenital deformity of hand   1230354001
            Arthrogryposis and ectodermal dysplasia syndrome   786039009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Congenital anomaly of limb   60475009
          Multiple malformation syndrome with facial-limb defects as major feature   23359005
            Arthrogryposis and ectodermal dysplasia syndrome   786039009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of embryonic structure   609521009
        Congenital ectodermal defect   254154003
          Ectodermal dysplasia   8654005
            Ectodermal dysplasia with hair-tooth defects   239027006
              Ectodermal dysplasia with hair-tooth-nail defects   239015008
                Arthrogryposis and ectodermal dysplasia syndrome   786039009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Deformity   417893002
      Congenital deformity   276655000
        Arthrogryposis   111246005
          Distal arthrogryposis syndrome   24269006
            Arthrogryposis and ectodermal dysplasia syndrome   786039009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Inherited arthrogryposis   28204005
            Arthrogryposis and ectodermal dysplasia syndrome   786039009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Deformity of limb   445144002
        Camptodactyly   29271008
          Arthrogryposis and ectodermal dysplasia syndrome   786039009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Finding of musculoskeletal structure of digit of hand   299055007
        Arthrogryposis and ectodermal dysplasia syndrome   786039009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Finding of upper limb   116307009
        Finding of hand region   116311003
          Deformity of hand   299033004
            Flexion deformity of hand   309463003
              Arthrogryposis and ectodermal dysplasia syndrome   786039009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Arthrogryposis and ectodermal dysplasia syndrome   786039009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Arthrogryposis and ectodermal dysplasia syndrome   786039009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Genetic disorder of nail   402775007
          Arthrogryposis and ectodermal dysplasia syndrome   786039009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Arthrogryposis and ectodermal dysplasia syndrome   786039009

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