Guttmacher syndrome   722452004

SNOMED CT code


SNOMED code722452004
nameGuttmacher syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
synonyms
  • Preaxial deficiency, postaxial polydactyly, hypospadias syndrome
  • Guttmacher syndrome
attributes - group1
Finding siteFinger structure   7569003
Pathological processPathological developmental process   308490002
Associated morphologySupernumerary structure   91431006
OccurrenceCongenital   255399007
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteBone structure   272673000
Associated morphologyDysplasia   25723000
attributes - group4
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyAbnormally short growth   11182007
Finding siteEntire toe   302547009
attributes - group3
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyAbnormally short growth   11182007
Finding siteEntire digit of hand   283992002
parents
  • Dysostosis   109420003
  • Autosomal dominant hereditary disorder   11164009
  • Brachydactyly of toes   205346006
  • Brachydactyly of hand   310798000
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Multiple malformation syndrome with limb defect as major feature   41443008
  • Polydactyly of fingers   81793007
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
              Guttmacher syndrome   722452004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Guttmacher syndrome   722452004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Deformity   417893002
      Congenital deformity   276655000
        Congenital deformity of lower limb   1230024004
          Congenital undergrowth of partial lower limb   253946005
            Brachydactyly of toes   205346006
              Guttmacher syndrome   722452004

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
              Guttmacher syndrome   722452004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Guttmacher syndrome   722452004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Guttmacher syndrome   722452004

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
                Guttmacher syndrome   722452004

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
              Polydactyly of fingers   81793007
                Guttmacher syndrome   722452004

ancestors
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