763860004: syndrome oto-facio-cervical (trouble)

• 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)\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \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\Otofaciocervical syndrome
• \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\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \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)\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \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\Otofaciocervical syndrome
• \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)\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \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\Otofaciocervical syndrome
• \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\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \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\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \constatation à propos d'une région de la tête et du cou\Finding of neck region\affection du cou\anomalie congénitale du cou\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \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\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \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\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\affection de l'oreille\malformation congénitale de l'oreille\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \constatation à propos de l'oreille et de l'audition\Ear finding\affection de l'oreille\malformation congénitale de l'oreille\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\malformation congénitale de l'oreille\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \Disease\Ear, nose and throat disorder\affection de l'oreille\malformation congénitale de l'oreille\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \Disease\affection du cou\anomalie congénitale du cou\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Otofaciocervical syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Otofaciocervical syndrome
• \Disease\affection de la tête\Congenital anomaly of head\malformation congénitale de l'oreille\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \Disease\affection de la tête\affection de l'oreille\malformation congénitale de l'oreille\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Otofaciocervical syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Otofaciocervical syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\malformation congénitale de l'oreille\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \Disease\Congenital disease\Congenital malformation\anomalie congénitale du cou\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Otofaciocervical syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Otofaciocervical syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\malformation congénitale de l'oreille\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
• \Disease\trouble du développement\Congenital malformation\anomalie congénitale du cou\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
766651000241112	syndrome oto-facio-cervical (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
892301000172112	syndrome oto-facio-cervical	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
978441000172116	syndrome OFC (syndrome oto-facio-cervical)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation 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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