763860004: Otofaciocervical 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)\Ear, face and neck congenital anomalies (disorder)\Otofaciocervical syndrome (disorder)
• \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\Otofaciocervical syndrome (disorder)
• \Head finding (finding)\Finding of head region\Ear finding (finding)\Disorder of ear\Congenital malformation of ear\Ear, face and neck congenital anomalies (disorder)\Otofaciocervical syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Ear, face and neck congenital anomalies (disorder)\Otofaciocervical syndrome (disorder)
• \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\Otofaciocervical syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Ear, face and neck congenital anomalies (disorder)\Otofaciocervical syndrome (disorder)
• \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\Otofaciocervical syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Ear, face and neck congenital anomalies (disorder)\Otofaciocervical syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Ear, face and neck congenital anomalies (disorder)\Otofaciocervical syndrome (disorder)
• \Finding of neck region\Disease of neck\Congenital anomaly of neck\Ear, face and neck congenital anomalies (disorder)\Otofaciocervical syndrome (disorder)
• \Ear, nose and throat finding\Ear finding (finding)\Disorder of ear\Congenital malformation of ear\Ear, face and neck congenital anomalies (disorder)\Otofaciocervical syndrome (disorder)
• \Ear, nose and throat finding\affection de l'oreille, du nez et de la gorge\Disorder of ear\Congenital malformation of ear\Ear, face and neck congenital anomalies (disorder)\Otofaciocervical syndrome (disorder)
• \Ear and auditory finding\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Ear, face and neck congenital anomalies (disorder)\Otofaciocervical syndrome (disorder)
• \Ear and auditory finding\Ear finding (finding)\Disorder of ear\Congenital malformation of ear\Ear, face and neck congenital anomalies (disorder)\Otofaciocervical syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Congenital malformation of ear\Ear, face and neck congenital anomalies (disorder)\Otofaciocervical syndrome (disorder)
• \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\Otofaciocervical syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Ear, face and neck congenital anomalies (disorder)\Otofaciocervical syndrome (disorder)
• \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\Otofaciocervical syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Ear, face and neck congenital anomalies (disorder)\Otofaciocervical syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of neck\Ear, face and neck congenital anomalies (disorder)\Otofaciocervical syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Ear, face and neck congenital anomalies (disorder)\Otofaciocervical syndrome (disorder)
• \Disease\affection de l'oreille, du nez et de la gorge\Disorder of ear\Congenital malformation of ear\Ear, face and neck congenital anomalies (disorder)\Otofaciocervical syndrome (disorder)
• \Disease\Disease of neck\Congenital anomaly of neck\Ear, face and neck congenital anomalies (disorder)\Otofaciocervical syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Ear, face and neck congenital anomalies (disorder)\Otofaciocervical syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Otofaciocervical syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Ear, face and neck congenital anomalies (disorder)\Otofaciocervical syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Otofaciocervical syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Ear, face and neck congenital anomalies (disorder)\Otofaciocervical syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Ear, face and neck congenital anomalies (disorder)\Otofaciocervical syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Otofaciocervical syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Ear, face and neck congenital anomalies (disorder)\Otofaciocervical syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Otofaciocervical syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Ear, face and neck congenital anomalies (disorder)\Otofaciocervical syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of neck\Ear, face and neck congenital anomalies (disorder)\Otofaciocervical syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3644776014	Otofaciocervical syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3644778010	Otofaciocervical syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3644779019	Fara Chlupackova syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404238010	Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404239019	Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterised by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3644776014	Otofaciocervical syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3644778010	Otofaciocervical syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3644779019	Fara Chlupackova syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3644777017	A rare genetic developmental defect during embryogenesis with characteristics of distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404238010	Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404239019	Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterised by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3442561001000110	Oto-fazio-zervikales Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
892301000172112	syndrome oto-facio-cervical	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
978441000172116	syndrome OFC (syndrome oto-facio-cervical)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
892301000172112	syndrome oto-facio-cervical	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
978441000172116	syndrome OFC (syndrome oto-facio-cervical)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3442561001000110	Oto-fazio-zervikales 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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