719305006: Stapes ankylosis with broad thumb and toe syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head region\Ear finding\Middle ear finding\Ossicle finding\Disorder of ear ossicles\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Head finding (finding)\Finding of head region\Ear finding\Middle ear finding\Disorder of middle ear\Disorder of ear ossicles\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Head finding (finding)\Finding of head region\Ear finding\Middle ear finding\Disorder of middle ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Ear lesion\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Disorder of middle ear\Disorder of ear ossicles\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Disorder of middle ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Ear lesion\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Disorder of middle ear\Disorder of ear ossicles\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Disorder of middle ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.

\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Disorder of toe\Congenital anomaly of toe\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Congenital anomaly of foot\Congenital anomaly of toe\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Disorder of toe\Congenital anomaly of toe\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Finding of limb structure\Finding of lower limb\Finding of ankle or foot (finding)\Finding of foot region\Toe finding (finding)\Disorder of toe\Congenital anomaly of toe\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Finding of limb structure\Finding of lower limb\Finding of ankle or foot (finding)\Finding of foot region\Disorder of foot (disorder)\Congenital anomaly of foot\Congenital anomaly of toe\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Finding of limb structure\Finding of lower limb\Finding of ankle or foot (finding)\Finding of foot region\Disorder of foot (disorder)\Disorder of toe\Congenital anomaly of toe\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Congenital anomaly of foot\Congenital anomaly of toe\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Disorder of toe\Congenital anomaly of toe\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of thumb\Congenital malformation of thumb (disorder)\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.

\Ear, nose and throat finding (finding)\Ear finding\Middle ear finding\Ossicle finding\Disorder of ear ossicles\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Ear, nose and throat finding (finding)\Ear finding\Middle ear finding\Disorder of middle ear\Disorder of ear ossicles\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Ear, nose and throat finding (finding)\Ear finding\Middle ear finding\Disorder of middle ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Ear, nose and throat finding (finding)\Ear finding\Disorder of ear\Ear lesion\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Ear, nose and throat finding (finding)\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Ear, nose and throat finding (finding)\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Ear, nose and throat finding (finding)\Ear finding\Disorder of ear\Disorder of middle ear\Disorder of ear ossicles\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Ear, nose and throat finding (finding)\Ear finding\Disorder of ear\Disorder of middle ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Ear, nose and throat finding (finding)\Ear, nose and throat disorder\Disorder of ear\Ear lesion\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Ear, nose and throat finding (finding)\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Ear, nose and throat finding (finding)\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Ear, nose and throat finding (finding)\Ear, nose and throat disorder\Disorder of ear\Disorder of middle ear\Disorder of ear ossicles\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Ear, nose and throat finding (finding)\Ear, nose and throat disorder\Disorder of ear\Disorder of middle ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Ear lesion\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Disorder of middle ear\Disorder of ear ossicles\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Disorder of middle ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Ear and auditory finding\Ear finding\Middle ear finding\Ossicle finding\Disorder of ear ossicles\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Ear and auditory finding\Ear finding\Middle ear finding\Disorder of middle ear\Disorder of ear ossicles\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Ear and auditory finding\Ear finding\Middle ear finding\Disorder of middle ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Ear and auditory finding\Ear finding\Disorder of ear\Ear lesion\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Ear and auditory finding\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Ear and auditory finding\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Ear and auditory finding\Ear finding\Disorder of ear\Disorder of middle ear\Disorder of ear ossicles\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Ear and auditory finding\Ear finding\Disorder of ear\Disorder of middle ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.

\Functional finding\Hearing finding\Hearing disorder\...

\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.

\Hearing loss\Hearing loss associated with syndrome\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Hearing loss\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.

\Disease\Disorder of sensory organ (disorder)\Disorder of ear\Ear lesion\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of sensory organ (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of sensory organ (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of sensory organ (disorder)\Disorder of ear\Disorder of middle ear\Disorder of ear ossicles\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of sensory organ (disorder)\Disorder of ear\Disorder of middle ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Ear lesion\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Disorder of middle ear\Disorder of ear ossicles\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Disorder of middle ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Ear, nose and throat disorder\Disorder of ear\Ear lesion\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Ear, nose and throat disorder\Disorder of ear\Disorder of middle ear\Disorder of ear ossicles\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Ear, nose and throat disorder\Disorder of ear\Disorder of middle ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of limb (disorder)\Disorder of digit\Disorder of toe\Congenital anomaly of toe\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Congenital anomaly of foot\Congenital anomaly of toe\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Disorder of toe\Congenital anomaly of toe\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of head (disorder)\Disorder of ear\Ear lesion\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of head (disorder)\Disorder of ear\Disorder of middle ear\Disorder of ear ossicles\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Disorder of head (disorder)\Disorder of ear\Disorder of middle ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Developmental disorder\Developmental hereditary disorder\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3315930010 This syndrome has characteristics of congenital conductive deafness due to stapes ankylosis, broad thumbs and first toes and hyperopia. So far, it has been described in multiple members of six families. Other skeletal malformations were also reported including short distal phalanges and syndactyly, but symphalangism is usually absent. Transmission is autosomal dominant and the syndrome is caused by mutations in the NOG gene (17q22). en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5402070018 Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402071019 Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterised by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3315927015 Stapes ankylosis with broad thumb and toe syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315928013 Stapes ankylosis with broad thumb and toe syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315929017 Teunissen Cremers syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Is a	Congenital anomaly of toe	true	Inferred relationship	Some
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Is a	Congenital fusion of ossicles of ear	false	Inferred relationship	Some
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Is a	Congenital malformation of thumb (disorder)	true	Inferred relationship	Some
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Interprets	Hearing	true	Inferred relationship	Some	4
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Interprets	træk vedr. funktion	false	Inferred relationship	Some
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Associated morphology	dysgenese	false	Inferred relationship	Some	5
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Occurrence	Congenital	false	Inferred relationship	Some	5
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Occurrence	Congenital	false	Inferred relationship	Some	6
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Occurrence	Congenital	false	Inferred relationship	Some	7
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Finding site	Thumb structure	false	Inferred relationship	Some	5
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Associated morphology	dysgenese	false	Inferred relationship	Some	6
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Finding site	Toe structure	false	Inferred relationship	Some	6
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Associated morphology	kongenit ankylose	false	Inferred relationship	Some	7
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Finding site	Stapes structure (body structure)	false	Inferred relationship	Some	7
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Occurrence	Congenital	true	Inferred relationship	Some	1
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Occurrence	Congenital	true	Inferred relationship	Some	2
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Finding site	Thumb structure	true	Inferred relationship	Some	2
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Occurrence	Congenital	true	Inferred relationship	Some	3
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Finding site	Stapes structure (body structure)	true	Inferred relationship	Some	1
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Finding site	Toe structure	true	Inferred relationship	Some	3
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Associated morphology	Ankylosis	true	Inferred relationship	Some	1
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Is a	Ear lesion	true	Inferred relationship	Some
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Is a	Congenital anomaly of ossicles of ear	true	Inferred relationship	Some
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Is a	Congenital anomaly of ear with impairment of hearing	true	Inferred relationship	Some
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

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Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
3315930010	This syndrome has characteristics of congenital conductive deafness due to stapes ankylosis, broad thumbs and first toes and hyperopia. So far, it has been described in multiple members of six families. Other skeletal malformations were also reported including short distal phalanges and syndactyly, but symphalangism is usually absent. Transmission is autosomal dominant and the syndrome is caused by mutations in the NOG gene (17q22).	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402070018	Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402071019	Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterised by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3315927015	Stapes ankylosis with broad thumb and toe syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3315928013	Stapes ankylosis with broad thumb and toe syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3315929017	Teunissen Cremers syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core