722389002: syndrome de paralysie faciale congénitale héréditaire-surdité variable (trouble)

• 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\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \constatation à propos du mouvement\Movement disorder\paralysie faciale\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \constatation à propos du mouvement\trouble moteur\paralysie\paralysie faciale\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \constatation générale à propos des tissus mous\Peripheral nerve finding\atteinte d'un nerf périphérique\Facial nerve disorder (disorder)\paralysie faciale\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \constatation générale à propos des tissus mous\Peripheral nerve finding\constatation à propos du septième nerf crânien\paralysie faciale\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\atteinte d'un nerf périphérique\Facial nerve disorder (disorder)\paralysie faciale\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Facial nerve disorder (disorder)\paralysie faciale\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Disorder of eye region (disorder)\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Congenital hereditary facial paralysis with variable hearing loss 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\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Congenital hereditary facial paralysis with variable hearing loss 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\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\constatation à propos du septième nerf crânien\paralysie faciale\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\...
• \Disorder of eye region (disorder)\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Hereditary disorder of the visual system\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Congenital anomaly of visual system\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Disorder of eye movements\Strabismus\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Neurological finding\Cranial nerve finding\constatation à propos du septième nerf crânien\paralysie faciale\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Neurological finding\Motor nervous system finding\trouble moteur\paralysie\paralysie faciale\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye movements\Strabismus\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Nerve palsy\paralysie faciale\Congenital hereditary facial paralysis with variable hearing loss 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\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Facial nerve disorder (disorder)\paralysie faciale\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Congenital hereditary facial paralysis with variable hearing loss 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\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Disease\Movement disorder\paralysie faciale\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Disease\Disorder of soft tissue\atteinte d'un nerf périphérique\Facial nerve disorder (disorder)\paralysie faciale\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss 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
3331811010	Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331812015	Congenital hereditary facial paralysis with variable hearing loss syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331813013	Congenital hereditary facial palsy with variable deafness	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
758651000241118	syndrome de paralysie faciale congénitale héréditaire-surdité variable (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
915941000172114	syndrome de paralysie faciale congénitale héréditaire-surdité variable	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3331814019	An extremely rare autosomal recessive disorder with characteristics of bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears) and strabismus.	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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