763860004: Otofaciocervical syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Otofaciocervical syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Congenital anomaly of ear\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Congenital anomaly of face\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Otofaciocervical syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Otofaciocervical syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of ear\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Congenital anomaly of ear\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
\Finding of head and neck region\Finding of neck region\Disorder of neck\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 anomaly 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 anomaly of ear\Ear, face and neck congenital anomalies\Otofaciocervical syndrome

\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Congenital anomaly of ear\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Congenital anomaly of ear\Ear, face and neck congenital anomalies\Otofaciocervical syndrome

\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital anomaly of ear\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Congenital anomaly of ear\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
\Disease\Disorder of neck\Congenital anomaly of neck\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Otofaciocervical syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Otofaciocervical syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ear\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
\Disease\Disorder of head\Disorder of ear\Congenital anomaly of ear\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Otofaciocervical syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Otofaciocervical syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of neck\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Otofaciocervical syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Otofaciocervical syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Ear, face and neck congenital anomalies\Otofaciocervical syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of neck\Ear, face and neck congenital anomalies\Otofaciocervical syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3644776014 Otofaciocervical syndrome en Synonym Active Case insensitive SNOMED CT core

3644778010 Otofaciocervical syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3644779019 Fara Chlupackova syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Otofaciocervical syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Otofaciocervical syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Otofaciocervical syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Otofaciocervical syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Otofaciocervical syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Otofaciocervical syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
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 abnormality	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 abnormality	false	Inferred relationship	Some	1
Otofaciocervical syndrome	Associated morphology	Developmental abnormality	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	Structure of neck	true	Inferred relationship	Some	2
Otofaciocervical syndrome	Finding site	Ear structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3644776014	Otofaciocervical syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3644778010	Otofaciocervical syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3644779019	Fara Chlupackova syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core