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

• SNOMED CT Concept\Clinical finding (finding)\...
• \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
• \Head finding (finding)\Finding of head region\Ear finding (finding)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
• \Head finding (finding)\Disorder of head (disorder)\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
• \Head finding (finding)\Disorder of head (disorder)\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
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
• \Ear, nose and throat finding\Ear finding (finding)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
• \Ear, nose and throat finding\affection de l'oreille, du nez et de la gorge\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (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
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
• \Ear and auditory finding\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
• \Ear and auditory finding\Ear finding (finding)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder (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
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
• \Functional finding\Hearing finding\Hearing disorder (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
• \Hearing loss\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
• \Disease\Disorder of foetus and/or newborn\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
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
• \Disease\Disorder of foetus and/or newborn\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
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (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
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
• \Disease\affection de l'oreille, du nez et de la gorge\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
• \Disease\Disorder of head (disorder)\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
• \Disease\Disorder of head (disorder)\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
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
• \Disease\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
• \Disease\Developmental disorder (disorder)\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
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome

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
5399298013	A rare syndromic genetic deafness characterized by 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
5399299017	A rare syndromic genetic deafness characterised by 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
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
5399298013	A rare syndromic genetic deafness characterized by 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
5399299017	A rare syndromic genetic deafness characterised by 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
1053261000195111	X-chromosomale äussere Gehörgangatresie-dilatierter innerer Gehörgang-Gesichtsdysmorphie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1053261000195111	X-chromosomale äussere Gehörgangatresie-dilatierter innerer Gehörgang-Gesichtsdysmorphie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3385991001000117	X-chromosomale äußere Gehörgangatresie-dilatierter innerer Gehörgang-Gesichtsdysmorphie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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