716243005: Deafness with malformation of ear and facial palsy syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du mouvement\constatation à propos de la mobilité globale du corps et des membres\paralysie\paralysie faciale\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \constatation à propos du mouvement\Movement disorder\paralysie faciale\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \constatation à propos du mouvement\trouble moteur\paralysie\paralysie faciale\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \constatation générale à propos des tissus mous\Peripheral nerve finding\atteinte d'un nerf périphérique\Facial nerve disorder (disorder)\paralysie faciale\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \constatation générale à propos des tissus mous\Peripheral nerve finding\constatation à propos du septième nerf crânien\paralysie faciale\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\atteinte d'un nerf périphérique\Facial nerve disorder (disorder)\paralysie faciale\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Facial nerve disorder (disorder)\paralysie faciale\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Ear finding\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear finding\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear, nose and throat disorder\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\constatation à propos du septième nerf crânien\paralysie faciale\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\Ear finding\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \constatation fonctionnelle\constatation sur l'audition\Hearing disorder\...
• \Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \perte auditive (trouble)\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \Neurological finding\Cranial nerve finding\constatation à propos du septième nerf crânien\paralysie faciale\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \Neurological finding\Motor nervous system finding\trouble moteur\paralysie\paralysie faciale\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Nerve palsy\paralysie faciale\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\atteinte d'un nerf périphérique\Facial nerve disorder (disorder)\paralysie faciale\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Facial nerve disorder (disorder)\paralysie faciale\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\atteinte d'un nerf périphérique\Facial nerve disorder (disorder)\paralysie faciale\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \Disease\Ear, nose and throat disorder\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \Disease\affection de la tête\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \Disease\Congenital disease\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \Disease\Movement disorder\paralysie faciale\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \Disease\Disorder of soft tissue\atteinte d'un nerf périphérique\Facial nerve disorder (disorder)\paralysie faciale\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Deafness with malformation of ear and facial palsy syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3305213013	Deafness with malformation of ear and facial palsy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305214019	Deafness with malformation of ear and facial palsy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305215018	Sellars Beighton syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3305216017	This syndrome has characteristics of profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three siblings and their mother. Inheritance is autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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