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


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
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
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 Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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