Camptodactyly and tall stature with scoliosis and hearing loss syndrome   720601000

SNOMED CT code


SNOMED code720601000
nameCamptodactyly and tall stature with scoliosis and hearing loss syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
synonyms
  • CATSHL (camptodactyly, tall stature, scoliosis, hearing loss) syndrome
  • Camptodactyly and tall stature with scoliosis and hearing loss syndrome
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteFinger structure   7569003
Associated morphologyMorphologically abnormal structure   49755003
attributes - group3
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteBone structure   272673000
Associated morphologyDysplasia   25723000
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteMusculoskeletal structure of digit of hand   310792004
Associated morphologyFixed flexion deformity   788600005
attributes - group4
Finding siteAuditory structure   91159003
attributes - group5
InterpretsHearing   47078008
parents
  • Dysostosis   109420003
  • Congenital deformity of hand   1230354001
  • Autosomal hereditary disorder   1899006
  • Congenital anomaly of finger   20948006
  • Hearing loss associated with syndrome   232333009
  • Camptodactyly   29271008
  • Finding of musculoskeletal structure of digit of hand   299055007
  • Flexion deformity of hand   309463003
  • Auditory system hereditary disorder   362991006
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Multiple malformation syndrome with limb defect as major feature   41443008
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
              Camptodactyly and tall stature with scoliosis and hearing loss syndrome   720601000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Deformity   417893002
      Congenital deformity   276655000
        Congenital deformity of upper limb   1230271002
          Congenital deformity of hand   1230354001
            Camptodactyly and tall stature with scoliosis and hearing loss syndrome   720601000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Camptodactyly and tall stature with scoliosis and hearing loss syndrome   720601000

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
            Congenital anomaly of finger   20948006
              Camptodactyly and tall stature with scoliosis and hearing loss syndrome   720601000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Hearing finding   118230007
        Hearing disorder   128540005
          Hearing loss   15188001
            Hearing loss associated with syndrome   232333009
              Camptodactyly and tall stature with scoliosis and hearing loss syndrome   720601000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Deformity of limb   445144002
        Camptodactyly   29271008
          Camptodactyly and tall stature with scoliosis and hearing loss syndrome   720601000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Finding of musculoskeletal structure of digit of hand   299055007
        Camptodactyly and tall stature with scoliosis and hearing loss syndrome   720601000

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
              Camptodactyly and tall stature with scoliosis and hearing loss syndrome   720601000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          Camptodactyly and tall stature with scoliosis and hearing loss syndrome   720601000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Camptodactyly and tall stature with scoliosis and hearing loss syndrome   720601000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Camptodactyly and tall stature with scoliosis and hearing loss syndrome   720601000

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
                Camptodactyly and tall stature with scoliosis and hearing loss syndrome   720601000

ancestors
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