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
  • Developmental hereditary disorder   363070008
  • 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
    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
    Disease   64572001
      Disorder of sensory organ   1279550006
        Disorder of ear   25906001
          Ear lesion   33391000119104
            Stapes ankylosis with broad thumb and toe syndrome   719305006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    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
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Stapes ankylosis with broad thumb and toe syndrome   719305006

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 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
    Ear and auditory finding   118236001
      Ear finding   247234006
        Middle ear finding   300162007
          Ossicle finding   247270009
            Disorder of ear ossicles   282039003
              Congenital anomaly of ossicles of ear   75922002
                Stapes ankylosis with broad thumb and toe syndrome   719305006

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 toe   9989000
              Stapes ankylosis with broad thumb and toe syndrome   719305006

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