Stapes ankylosis with broad thumb and toe syndrome   719305006

SNOMED CT code


SNOMED code719305006
nameStapes ankylosis with broad thumb and toe syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Stapes ankylosis with broad thumb and toe syndrome (disorder)
synonyms
  • Stapes ankylosis with broad thumb and toe syndrome
  • Teunissen Cremers syndrome
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteStapes structure   22718006
Associated morphologyAnkylosis   36504009
attributes - group2
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteThumb structure   76505004
attributes - group3
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteToe structure   29707007
attributes - group4
InterpretsHearing   47078008
parents
  • Congenital anomaly of ear with impairment of hearing   111339003
  • Autosomal dominant hereditary disorder   11164009
  • Hearing loss associated with syndrome   232333009
  • Ear lesion   33391000119104
  • Auditory system hereditary disorder   362991006
  • Congenital malformation of thumb   394910004
  • Multiple malformation syndrome with limb defect as major feature   41443008
  • Congenital anomaly of ossicles of ear   75922002
  • Congenital anomaly of toe   9989000
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital hearing disorder   95827002
          Congenital anomaly of ear with impairment of hearing   111339003
            Stapes ankylosis with broad thumb and toe syndrome   719305006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Stapes ankylosis with broad thumb and toe syndrome   719305006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Clinical history and observation findings   250171008
      Functional finding   118228005
        Hearing finding   118230007
          Hearing disorder   128540005
            Hearing loss   15188001
              Hearing loss associated with syndrome   232333009
                Stapes ankylosis with broad thumb and toe syndrome   719305006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Disorder of head   118934005
          Disorder of ear   25906001
            Ear lesion   33391000119104
              Stapes ankylosis with broad thumb and toe syndrome   719305006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Ear and auditory finding   118236001
        Disorder of auditory system   362966006
          Auditory system hereditary disorder   362991006
            Stapes ankylosis with broad thumb and toe syndrome   719305006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Disorder of extremity   128605003
          Disorder of digit   128597007
            Congenital anomaly of digit   403855001
              Congenital malformation of thumb   394910004
                Stapes ankylosis with broad thumb and toe syndrome   719305006

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
                Stapes ankylosis with broad thumb and toe syndrome   719305006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Disorder of head   118934005
          Disorder of ear   25906001
            Congenital malformation of ear   275259005
              Congenital anomaly of middle ear   21905007
                Congenital anomaly of ossicles of ear   75922002
                  Stapes ankylosis with broad thumb and toe syndrome   719305006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Disorder of extremity   128605003
          Disorder of digit   128597007
            Congenital anomaly of digit   403855001
              Congenital anomaly of toe   9989000
                Stapes ankylosis with broad thumb and toe syndrome   719305006

ancestors
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