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\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)

\Finding of movement (finding)\Movement disorder\Facial palsy\Deafness with malformation of ear and facial palsy syndrome (disorder)
\Finding of movement (finding)\Motor dysfunction\Paralysis\Facial palsy\Deafness with malformation of ear and facial palsy syndrome (disorder)

\Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)
\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)

\General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Facial nerve disorder (disorder)\Facial palsy\Deafness with malformation of ear and facial palsy syndrome (disorder)
\General finding of soft tissue\Peripheral nerve finding\Seventh cranial nerve finding\Facial palsy\Deafness with malformation of ear and facial palsy syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Facial nerve disorder (disorder)\Facial palsy\Deafness with malformation of ear and facial palsy syndrome (disorder)

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

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

\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)

\Hearing loss\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)

\Neurological finding\Cranial nerve finding\Seventh cranial nerve finding\Facial palsy\Deafness with malformation of ear and facial palsy syndrome (disorder)
\Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Facial palsy\Deafness with malformation of ear and facial palsy syndrome (disorder)

\Disease\Disorder of sensory organ (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Deafness with malformation of ear and facial palsy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Deafness with malformation of ear and facial palsy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Deafness with malformation of ear and facial palsy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Deafness with malformation of ear and facial palsy syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Deafness with malformation of ear and facial palsy syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Deafness with malformation of ear and facial palsy syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Deafness with malformation of ear and facial palsy syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral nerve disease\Facial nerve disorder (disorder)\Facial palsy\Deafness with malformation of ear and facial palsy syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Facial nerve disorder (disorder)\Facial palsy\Deafness with malformation of ear and facial palsy syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Deafness with malformation of ear and facial palsy syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral nerve disease\Facial nerve disorder (disorder)\Facial palsy\Deafness with malformation of ear and facial palsy syndrome (disorder)
\Disease\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)
\Disease\Movement disorder\Facial palsy\Deafness with malformation of ear and facial palsy syndrome (disorder)
\Disease\Disorder of soft tissue\Peripheral nerve disease\Facial nerve disorder (disorder)\Facial palsy\Deafness with malformation of ear and facial palsy syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Deafness with malformation of ear and facial palsy syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Deafness with malformation of ear and facial palsy syndrome (disorder)

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deafness with malformation of ear and facial palsy syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Deafness with malformation of ear and facial palsy syndrome (disorder)	Is a	Congenital anomaly of ear with impairment of hearing	true	Inferred relationship	Some
Deafness with malformation of ear and facial palsy syndrome (disorder)	Is a	Facial palsy	true	Inferred relationship	Some
Deafness with malformation of ear and facial palsy syndrome (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Deafness with malformation of ear and facial palsy syndrome (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Deafness with malformation of ear and facial palsy syndrome (disorder)	Finding site	Facial nerve structure	true	Inferred relationship	Some	3
Deafness with malformation of ear and facial palsy syndrome (disorder)	Interprets	Hearing	true	Inferred relationship	Some	4
Deafness with malformation of ear and facial palsy syndrome (disorder)	Interprets	Functional observable	false	Inferred relationship	Some
Deafness with malformation of ear and facial palsy syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	4
Deafness with malformation of ear and facial palsy syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Deafness with malformation of ear and facial palsy syndrome (disorder)	Finding site	Ear structure	false	Inferred relationship	Some	4
Deafness with malformation of ear and facial palsy syndrome (disorder)	Has interpretation	Absent	true	Inferred relationship	Some	1
Deafness with malformation of ear and facial palsy syndrome (disorder)	Interprets	Gross movement of body and limbs	false	Inferred relationship	Some	1
Deafness with malformation of ear and facial palsy syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Deafness with malformation of ear and facial palsy syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Deafness with malformation of ear and facial palsy syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Deafness with malformation of ear and facial palsy syndrome (disorder)	Finding site	Ear structure	true	Inferred relationship	Some	2
Deafness with malformation of ear and facial palsy syndrome (disorder)	Interprets	Movement	true	Inferred relationship	Some	5
Deafness with malformation of ear and facial palsy syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Deafness with malformation of ear and facial palsy syndrome (disorder)	Interprets	Movement observable	true	Inferred relationship	Some	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