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764810000: syndrome branchio-otique (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3655174015 Branchio-otic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3655175019 Branchiootic syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3655176018 Branchiootic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
767171000241110 syndrome branchio-otique (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
876031000172113 syndrome branchio-otique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3654750019 A rare genetic multiple congenital anomalies syndrome with characteristics of second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (including cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space). 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
Branchiootic syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Branchiootic syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Branchiootic syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Branchiootic syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Branchiootic syndrome (disorder) est un(e) (attribut) Congenital anomaly of ear with impairment of hearing true Inferred relationship Some
Branchiootic syndrome (disorder) interprète (attribut) Hearing, function (observable entity) true Inferred relationship Some 3
Branchiootic syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Branchiootic syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Branchiootic syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Branchiootic syndrome (disorder) est un(e) (attribut) Hearing loss associated with syndrome true Inferred relationship Some
Branchiootic syndrome (disorder) est un(e) (attribut) malformation congénitale de l'oreille false Inferred relationship Some
Branchiootic syndrome (disorder) est un(e) (attribut) Auditory system hereditary disorder true Inferred relationship Some
Branchiootic syndrome (disorder) est un(e) (attribut) Developmental malformation of branchial arch (disorder) true Inferred relationship Some
Branchiootic syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 2
Branchiootic syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Branchiootic syndrome (disorder) localisation d'une constatation (attribut) Branchial arch structure true Inferred relationship Some 2
Branchiootic syndrome (disorder) localisation d'une constatation (attribut) oreille false Inferred relationship Some 2
Branchiootic syndrome (disorder) localisation d'une constatation (attribut) Branchial arch structure false Inferred relationship Some 1
Branchiootic syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 1
Branchiootic syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Branchiootic syndrome (disorder) localisation d'une constatation (attribut) oreille true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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