1167372000: X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \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\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism 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\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism 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\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism 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\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism 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\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism 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\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism 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\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism 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\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism 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\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism 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\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism 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\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism 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\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism 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\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism 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\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder)
• \constatation fonctionnelle\constatation sur l'audition\Hearing disorder\...
• \Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder)
• \perte auditive (trouble)\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism 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\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism 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\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism 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\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism 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\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism 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\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism 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\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder)
• \Disease\affection de la tête\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism 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\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder)
• \Disease\Congenital disease\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism 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\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism 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\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism 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\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4603874017	X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4603875016	X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4603876015	A rare syndromic genetic deafness with characteristics of congenital hearing loss, atresia or stenosis of the external auditory canal, dilated internal auditory canal, malformation of the inner ear (incomplete separation of the cochlea basal turn from the fundus of the internal auditory canal), in combination with abnormal auricular shape and facial dysmorphism (including thick eyebrows, ptosis, broad nasal root, and telecanthus). Intelligence is normal and developmental delay is absent.	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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