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

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of thumb\Stapes ankylosis with broad thumb and toe syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of toe\Stapes ankylosis with broad thumb and toe syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Disorder of toe\Congenital anomaly of toe\Stapes ankylosis with broad thumb and toe syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\Stapes ankylosis with broad thumb and toe syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Stapes ankylosis with broad thumb and toe syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Congenital anomaly of foot\Congenital anomaly of toe\Stapes ankylosis with broad thumb and toe syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Disorder of toe\Congenital anomaly of toe\Stapes ankylosis with broad thumb and toe syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Stapes ankylosis with broad thumb and toe syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\Stapes ankylosis with broad thumb and toe syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of toe\Stapes ankylosis with broad thumb and toe syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Stapes ankylosis with broad thumb and toe syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Stapes ankylosis with broad thumb and toe syndrome
\Finding of limb structure\Finding of lower limb\Finding of ankle or foot\Finding of foot region\Toe finding\Disorder of toe\Congenital anomaly of toe\Stapes ankylosis with broad thumb and toe syndrome
\Finding of limb structure\Finding of lower limb\Finding of ankle or foot\Finding of foot region\Disorder of foot\Congenital anomaly of foot\Congenital anomaly of toe\Stapes ankylosis with broad thumb and toe syndrome
\Finding of limb structure\Finding of lower limb\Finding of ankle or foot\Finding of foot region\Disorder of foot\Disorder of toe\Congenital anomaly of toe\Stapes ankylosis with broad thumb and toe syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Congenital anomaly of foot\Congenital anomaly of toe\Stapes ankylosis with broad thumb and toe syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Disorder of toe\Congenital anomaly of toe\Stapes ankylosis with broad thumb and toe syndrome
\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 thumb and toe syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\Stapes ankylosis with broad thumb and toe syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Stapes ankylosis with broad thumb and toe syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of thumb\Congenital anomaly of thumb\Stapes ankylosis with broad thumb and toe syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\Stapes ankylosis with broad thumb and toe syndrome

\Finding of head and neck region\Head 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 thumb and toe syndrome
\Finding of head and neck region\Head 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 thumb and toe syndrome
\Finding of head and neck region\Head 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 thumb and toe syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Ear lesion\Stapes ankylosis with broad thumb and toe syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumb and toe syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumb and toe syndrome
\Finding of head and neck region\Head 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 thumb and toe syndrome
\Finding of head and neck region\Head 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 thumb and toe syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumb and toe syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumb and toe syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Ear lesion\Stapes ankylosis with broad thumb and toe syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumb and toe syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumb and toe syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Disorder of middle ear\Disorder of ear ossicles\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumb and toe syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Disorder of middle ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumb and toe syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Middle ear finding\Ossicle finding\Disorder of ear ossicles\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumb and toe syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Middle ear finding\Disorder of middle ear\Disorder of ear ossicles\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumb and toe syndrome
\Finding of head and neck region\Ear, nose and throat 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 thumb and toe syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Ear lesion\Stapes ankylosis with broad thumb and toe syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumb and toe syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumb and toe syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Disorder of middle ear\Disorder of ear ossicles\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumb and toe syndrome
\Finding of head and neck region\Ear, nose and throat 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 thumb and toe syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Ear lesion\Stapes ankylosis with broad thumb and toe syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumb and toe syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumb and toe syndrome
\Finding of head and neck region\Ear, nose and throat 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 thumb and toe syndrome
\Finding of head and neck region\Ear, nose and throat 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 thumb and toe syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Stapes ankylosis with broad thumb and toe syndrome
\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 thumb and toe syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Stapes ankylosis with broad thumb and toe syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumb and toe syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Ear lesion\Stapes ankylosis with broad thumb and toe syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumb and toe syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumb and toe syndrome
\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 thumb and toe syndrome
\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 thumb and toe syndrome
\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 thumb and toe syndrome
\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 thumb and toe syndrome
\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 thumb and toe syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Ear lesion\Stapes ankylosis with broad thumb and toe syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumb and toe syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumb and toe syndrome
\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 thumb and toe syndrome
\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 thumb and toe syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumb and toe syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Stapes ankylosis with broad thumb and toe syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumb and toe syndrome

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

\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumb and toe syndrome

\Hearing loss\Hearing loss associated with syndrome\Stapes ankylosis with broad thumb and toe syndrome
\Hearing loss\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumb and toe syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Stapes ankylosis with broad thumb and toe syndrome
\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 thumb and toe syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Stapes ankylosis with broad thumb and toe syndrome
\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 thumb and toe syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Ear lesion\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumb and toe syndrome
\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 thumb and toe syndrome
\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 thumb and toe syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Ear lesion\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumb and toe syndrome
\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 thumb and toe syndrome
\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 thumb and toe syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of thumb\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of toe\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Disorder of extremity\Disorder of digit\Disorder of toe\Congenital anomaly of toe\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Congenital anomaly of foot\Congenital anomaly of toe\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Disorder of toe\Congenital anomaly of toe\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of toe\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Disorder of head\Disorder of ear\Ear lesion\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Disorder of head\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Disorder of head\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Disorder of head\Disorder of ear\Disorder of middle ear\Disorder of ear ossicles\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Disorder of head\Disorder of ear\Disorder of middle ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Congenital disease\Congenital anomaly\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 thumb and toe syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of toe\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Congenital disease\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Developmental disorder\Congenital anomaly\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 thumb and toe syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Congenital anomaly of middle ear\Congenital anomaly of ossicles of ear\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of toe\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Stapes ankylosis with broad thumb and toe syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Stapes ankylosis with broad thumb and toe syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3315927015 Stapes ankylosis with broad thumb and toe syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3315928013 Stapes ankylosis with broad thumb and toe syndrome en Synonym Active Case insensitive SNOMED CT core

3315929017 Teunissen Cremers syndrome en Synonym Active Case sensitive SNOMED CT core

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 Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Stapes ankylosis with broad thumb and toe syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Stapes ankylosis with broad thumb and toe syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Stapes ankylosis with broad thumb and toe syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Stapes ankylosis with broad thumb and toe syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Stapes ankylosis with broad thumb and toe syndrome	Finding site	Thumb structure	true	Inferred relationship	Some	2
Stapes ankylosis with broad thumb and toe syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Stapes ankylosis with broad thumb and toe syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Stapes ankylosis with broad thumb and toe syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Stapes ankylosis with broad thumb and toe syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Stapes ankylosis with broad thumb and toe syndrome	Finding site	Stapes structure	true	Inferred relationship	Some	1
Stapes ankylosis with broad thumb and toe syndrome	Finding site	Toe structure	true	Inferred relationship	Some	3
Stapes ankylosis with broad thumb and toe syndrome	Associated morphology	Ankylosis	true	Inferred relationship	Some	1
Stapes ankylosis with broad thumb and toe syndrome	Is a	Ear lesion	true	Inferred relationship	Some
Stapes ankylosis with broad thumb and toe syndrome	Is a	Congenital anomaly of ossicles of ear	true	Inferred relationship	Some
Stapes ankylosis with broad thumb and toe syndrome	Is a	Congenital anomaly of ear with impairment of hearing	true	Inferred relationship	Some
Stapes ankylosis with broad thumb and toe syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Stapes ankylosis with broad thumb and toe syndrome	Is a	Congenital anomaly of toe	true	Inferred relationship	Some
Stapes ankylosis with broad thumb and toe syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Stapes ankylosis with broad thumb and toe syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Stapes ankylosis with broad thumb and toe syndrome	Is a	Congenital fusion of ossicles of ear	false	Inferred relationship	Some
Stapes ankylosis with broad thumb and toe syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Stapes ankylosis with broad thumb and toe syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Stapes ankylosis with broad thumb and toe syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Stapes ankylosis with broad thumb and toe syndrome	Is a	Congenital anomaly of thumb	true	Inferred relationship	Some
Stapes ankylosis with broad thumb and toe syndrome	Interprets	Hearing	true	Inferred relationship	Some	4
Stapes ankylosis with broad thumb and toe syndrome	Interprets	Functional observable	false	Inferred relationship	Some
Stapes ankylosis with broad thumb and toe syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Stapes ankylosis with broad thumb and toe syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Stapes ankylosis with broad thumb and toe syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Stapes ankylosis with broad thumb and toe syndrome	Occurrence	Congenital	false	Inferred relationship	Some	7
Stapes ankylosis with broad thumb and toe syndrome	Finding site	Thumb structure	false	Inferred relationship	Some	5
Stapes ankylosis with broad thumb and toe syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	6
Stapes ankylosis with broad thumb and toe syndrome	Finding site	Toe structure	false	Inferred relationship	Some	6
Stapes ankylosis with broad thumb and toe syndrome	Associated morphology	Congenital ankylosis	false	Inferred relationship	Some	7
Stapes ankylosis with broad thumb and toe syndrome	Finding site	Stapes structure	false	Inferred relationship	Some	7

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3315927015	Stapes ankylosis with broad thumb and toe syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3315928013	Stapes ankylosis with broad thumb and toe syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3315929017	Teunissen Cremers syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
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	Active	Case sensitive	SNOMED CT core