716243005: Deafness with malformation of ear and facial palsy syndrome (disorder)

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

\Head finding (finding)\Finding of head region\Ear finding (finding)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome

\Finding of movement\Movement disorder\Facial palsy\Sellars Beighton syndrome
\Finding of movement\Motor dysfunction\Paralysis (finding)\Facial palsy\Sellars Beighton syndrome

\Ear, nose and throat finding\Ear finding (finding)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome
\Ear, nose and throat finding\affection de l'oreille, du nez et de la gorge\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome

\General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Facial nerve disorder (disorder)\Facial palsy\Sellars Beighton syndrome
\General finding of soft tissue\Peripheral nerve finding\Seventh cranial nerve finding (finding)\Facial palsy\Sellars Beighton syndrome
\General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Facial nerve disorder (disorder)\Facial palsy\Sellars Beighton syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Sellars Beighton syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome
\Ear and auditory finding\Ear finding (finding)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome

\Functional finding\Hearing finding\Hearing disorder (disorder)\...

\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome

\Hearing loss\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome

\Neurological finding\Cranial nerve finding\Seventh cranial nerve finding (finding)\Facial palsy\Sellars Beighton syndrome
\Neurological finding\Motor nervous system finding (finding)\Motor dysfunction\Paralysis (finding)\Facial palsy\Sellars Beighton syndrome

\Disease\Disorder of sensory organ (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Sellars Beighton syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Sellars Beighton syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Sellars Beighton syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Sellars Beighton syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Sellars Beighton syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Sellars Beighton syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Sellars Beighton syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome
\Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Peripheral nerve disease\Facial nerve disorder (disorder)\Facial palsy\Sellars Beighton syndrome
\Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Cranial nerve disorder (disorder)\Facial nerve disorder (disorder)\Facial palsy\Sellars Beighton syndrome
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Sellars Beighton syndrome
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Peripheral nerve disease\Facial nerve disorder (disorder)\Facial palsy\Sellars Beighton syndrome
\Disease\affection de l'oreille, du nez et de la gorge\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome
\Disease\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome
\Disease\Movement disorder\Facial palsy\Sellars Beighton syndrome
\Disease\Disorder of soft tissue\Peripheral nerve disease\Facial nerve disorder (disorder)\Facial palsy\Sellars Beighton syndrome
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Sellars Beighton syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3305213013 Deafness with malformation of ear and facial palsy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3305214019 Deafness with malformation of ear and facial palsy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3305215018 Sellars Beighton syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401281012 Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three siblings and their mother. Inheritance is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401282017 Deafness-ear malformation-facial palsy syndrome is characterised by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three siblings and their mother. Inheritance is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3305213013 Deafness with malformation of ear and facial palsy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3305213013 Deafness with malformation of ear and facial palsy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3305214019 Deafness with malformation of ear and facial palsy syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3305214019 Deafness with malformation of ear and facial palsy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3305215018 Sellars Beighton syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3305216017 This syndrome has characteristics of profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three siblings and their mother. Inheritance is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401281012 Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three siblings and their mother. Inheritance is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401282017 Deafness-ear malformation-facial palsy syndrome is characterised by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three siblings and their mother. Inheritance is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3411661001000110 Schwerhörigkeit - Ohrfehlbildungen - Gesichtslähmung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5885381000241117 syndrome de Sellars-Beighton fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5885391000241115 syndrome de surdité, malformation de l'oreille et paralysie faciale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5885381000241117 syndrome de Sellars-Beighton fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5885391000241115 syndrome de surdité, malformation de l'oreille et paralysie faciale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3411661001000110 Schwerhörigkeit - Ohrfehlbildungen - Gesichtslähmung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Sellars Beighton syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Sellars Beighton syndrome	Is a	Congenital anomaly of ear with impairment of hearing	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Sellars Beighton syndrome	Is a	Facial palsy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Sellars Beighton syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Sellars Beighton syndrome	Is a	Hereditary disorder of nervous system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Sellars Beighton syndrome	Finding site	Facial nerve structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Sellars Beighton syndrome	Interprets	Hearing	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Sellars Beighton syndrome	Interprets	entité observable fonctionnelle	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Sellars Beighton syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Sellars Beighton syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Sellars Beighton syndrome	Finding site	Ear structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Sellars Beighton syndrome	Has interpretation	Absent	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Sellars Beighton syndrome	Interprets	Gross movement of body and limbs (observable entity)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Sellars Beighton syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Sellars Beighton syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Sellars Beighton syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Sellars Beighton syndrome	Finding site	Ear structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Sellars Beighton syndrome	Interprets	Movement	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Sellars Beighton syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Sellars Beighton syndrome	Interprets	Movement observable	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3305213013	Deafness with malformation of ear and facial palsy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305214019	Deafness with malformation of ear and facial palsy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305215018	Sellars Beighton syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401281012	Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three siblings and their mother. Inheritance is autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401282017	Deafness-ear malformation-facial palsy syndrome is characterised by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three siblings and their mother. Inheritance is autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3305213013	Deafness with malformation of ear and facial palsy syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3305213013	Deafness with malformation of ear and facial palsy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305214019	Deafness with malformation of ear and facial palsy syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3305214019	Deafness with malformation of ear and facial palsy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305215018	Sellars Beighton syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3305216017	This syndrome has characteristics of profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three siblings and their mother. Inheritance is autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401281012	Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three siblings and their mother. Inheritance is autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401282017	Deafness-ear malformation-facial palsy syndrome is characterised by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three siblings and their mother. Inheritance is autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3411661001000110	Schwerhörigkeit - Ohrfehlbildungen - Gesichtslähmung	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5885381000241117	syndrome de Sellars-Beighton	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5885391000241115	syndrome de surdité, malformation de l'oreille et paralysie faciale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5885381000241117	syndrome de Sellars-Beighton	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5885391000241115	syndrome de surdité, malformation de l'oreille et paralysie faciale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3411661001000110	Schwerhörigkeit - Ohrfehlbildungen - Gesichtslähmung	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module