763860004: Otofaciocervical syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of head and neck region\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
\Finding of head and neck region\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
\Finding of head and neck region\Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Congenital malformation of ear\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
\Finding of head and neck region\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
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
\Finding of head and neck region\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
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
\Finding of head and neck region\Finding of neck region\Disorder of neck (disorder)\Congenital anomaly of neck\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital malformation of ear\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
\Finding of head and neck region\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

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

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Otofaciocervical syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Otofaciocervical syndrome	Is a	Ear, face and neck congenital anomalies	true	Inferred relationship	Some
Otofaciocervical syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	3
Otofaciocervical syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Otofaciocervical syndrome	Finding site	Face structure	true	Inferred relationship	Some	3
Otofaciocervical syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	1
Otofaciocervical syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Otofaciocervical syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Otofaciocervical syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Otofaciocervical syndrome	Finding site	Neck structure	true	Inferred relationship	Some	2
Otofaciocervical syndrome	Finding site	Ear structure	true	Inferred relationship	Some	1
Otofaciocervical syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Otofaciocervical syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Otofaciocervical syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Otofaciocervical syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Otofaciocervical syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Otofaciocervical syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
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