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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) survenue (attribut) congénital true Inferred relationship Some 1
Stapes ankylosis with broad thumb and toe syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique 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) survenue (attribut) congénital true Inferred relationship Some 2
Stapes ankylosis with broad thumb and toe syndrome (disorder) localisation d'une constatation (attribut) pouce true Inferred relationship Some 2
Stapes ankylosis with broad thumb and toe syndrome (disorder) survenue (attribut) congénital 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) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 3
Stapes ankylosis with broad thumb and toe syndrome (disorder) localisation d'une constatation (attribut) Stapes structure true Inferred relationship Some 1
Stapes ankylosis with broad thumb and toe syndrome (disorder) localisation d'une constatation (attribut) orteil (structure corporelle) true Inferred relationship Some 3
Stapes ankylosis with broad thumb and toe syndrome (disorder) morphologie associée (attribut) Ankylosis true Inferred relationship Some 1
Stapes ankylosis with broad thumb and toe syndrome (disorder) est un(e) (attribut) Ear lesion true Inferred relationship Some
Stapes ankylosis with broad thumb and toe syndrome (disorder) est un(e) (attribut) Congenital anomaly of ossicles of ear true Inferred relationship Some
Stapes ankylosis with broad thumb and toe syndrome (disorder) est un(e) (attribut) Congenital anomaly of ear with impairment of hearing true Inferred relationship Some
Stapes ankylosis with broad thumb and toe syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Stapes ankylosis with broad thumb and toe syndrome (disorder) est un(e) (attribut) Congenital anomaly of toe true Inferred relationship Some
Stapes ankylosis with broad thumb and toe syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Stapes ankylosis with broad thumb and toe syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Stapes ankylosis with broad thumb and toe syndrome (disorder) est un(e) (attribut) Congenital fusion of ossicles of ear (disorder) false Inferred relationship Some
Stapes ankylosis with broad thumb and toe syndrome (disorder) est un(e) (attribut) Congenital hearing disorder false Inferred relationship Some
Stapes ankylosis with broad thumb and toe syndrome (disorder) est un(e) (attribut) Hearing loss associated with syndrome true Inferred relationship Some
Stapes ankylosis with broad thumb and toe syndrome (disorder) est un(e) (attribut) Auditory system hereditary disorder true Inferred relationship Some
Stapes ankylosis with broad thumb and toe syndrome (disorder) est un(e) (attribut) Congenital malformation of thumb (disorder) true Inferred relationship Some
Stapes ankylosis with broad thumb and toe syndrome (disorder) interprète (attribut) Hearing, function (observable entity) true Inferred relationship Some 4
Stapes ankylosis with broad thumb and toe syndrome (disorder) interprète (attribut) entité observable fonctionnelle false Inferred relationship Some
Stapes ankylosis with broad thumb and toe syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 5
Stapes ankylosis with broad thumb and toe syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Stapes ankylosis with broad thumb and toe syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Stapes ankylosis with broad thumb and toe syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 7
Stapes ankylosis with broad thumb and toe syndrome (disorder) localisation d'une constatation (attribut) pouce false Inferred relationship Some 5
Stapes ankylosis with broad thumb and toe syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 6
Stapes ankylosis with broad thumb and toe syndrome (disorder) localisation d'une constatation (attribut) orteil (structure corporelle) false Inferred relationship Some 6
Stapes ankylosis with broad thumb and toe syndrome (disorder) morphologie associée (attribut) Congenital ankylosis false Inferred relationship Some 7
Stapes ankylosis with broad thumb and toe syndrome (disorder) localisation d'une constatation (attribut) Stapes structure false Inferred relationship Some 7

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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