763860004: otofaciocervicaal syndroom (aandoening)

• 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\Otofaciocervical syndrome
• \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
• \Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Congenital malformation of ear\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Ear, face and neck congenital anomalies\Otofaciocervical 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\Otofaciocervical syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Ear, face and neck congenital anomalies\Otofaciocervical 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\Otofaciocervical syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \Finding of neck region\Disorder of neck (disorder)\Congenital anomaly of neck\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital malformation of ear\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \Ear and auditory finding (finding)\Ear finding\Disorder of ear\Congenital malformation of ear\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Congenital malformation of ear\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Otofaciocervical syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Otofaciocervical syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of neck\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \Disease\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \Disease\Disorder of neck (disorder)\Congenital anomaly of neck\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \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
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \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
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \Disease\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Otofaciocervical syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Otofaciocervical syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of neck\Ear, face and neck congenital anomalies\Otofaciocervical syndrome

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
6706801000146110	otofaciocervicaal syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6706811000146112	otofaciocervicaal syndroom (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6706821000146119	OFC-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8523941000146112	syndroom van Fára-Chlupácková	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8523951000146110	Fára-Chlupácková-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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