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717944002: surdité branchiogénique (trouble)


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
3324418016 Branchiogenic deafness syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3324419012 Branchiogenic deafness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3324420018 Megarbane Loiselet syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
751701000241118 surdité branchiogénique (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
992691000172116 surdité branchiogénique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
995821000172110 syndrome de Mégarbané-Loiselet fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3324421019 A multiple congenital anomalies syndrome, described in one family to date, with characteristics of branchial cysts or fistula, ear malformations, congenital hearing loss (conductive, sensorineural, and mixed), internal auditory canal hypoplasia, strabismus, trismus, abnormal fifth fingers, vitiliginous lesions, short stature and mild learning disability. Renal and urethral abnormalities are absent. 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
Branchiogenic deafness syndrome (disorder) localisation d'une constatation (attribut) oreille true Inferred relationship Some 1
Branchiogenic deafness syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Branchiogenic deafness syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Branchiogenic deafness syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Branchiogenic deafness syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Branchiogenic deafness syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Branchiogenic deafness syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Branchiogenic deafness syndrome (disorder) est un(e) (attribut) Congenital anomaly of ear with impairment of hearing true Inferred relationship Some
Branchiogenic deafness syndrome (disorder) est un(e) (attribut) Auditory system hereditary disorder true Inferred relationship Some
Branchiogenic deafness syndrome (disorder) interprète (attribut) Hearing, function (observable entity) true Inferred relationship Some 2
Branchiogenic deafness syndrome (disorder) interprète (attribut) entité observable fonctionnelle false Inferred relationship Some
Branchiogenic deafness syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 3
Branchiogenic deafness syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 3
Branchiogenic deafness syndrome (disorder) localisation d'une constatation (attribut) oreille false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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