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

SNOMED CT Concept\Clinical finding\...

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

\General finding of soft tissue\Peripheral nerve finding\Peripheral neuropathy\Disorder of facial nerve\Facial palsy\Sellars Beighton syndrome
\General finding of soft tissue\Peripheral nerve finding\Facial nerve finding\Facial palsy\Sellars Beighton syndrome
\General finding of soft tissue\Disorder of soft tissue\Peripheral neuropathy\Disorder of facial nerve\Facial palsy\Sellars Beighton syndrome

\Finding of head and neck region\Disorder of facial nerve\Facial palsy\Sellars Beighton syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome
\Finding of head and neck region\Facial nerve finding\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\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing 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 anomaly of ear\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome

\Functional finding\Hearing finding\Hearing 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\Facial nerve finding\Facial palsy\Sellars Beighton syndrome
\Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Facial palsy\Sellars Beighton syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Sellars Beighton syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\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 body system\Hereditary disorder by system\Hereditary disorder of nervous system\Sellars Beighton syndrome
\Disease\Disorder of body system\Hereditary disorder by system\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\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\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 anomaly of ear\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Peripheral neuropathy\Disorder of facial nerve\Facial palsy\Sellars Beighton syndrome
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of facial nerve\Facial palsy\Sellars Beighton syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Sellars Beighton syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Peripheral neuropathy\Disorder of facial nerve\Facial palsy\Sellars Beighton syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome
\Disease\Disorder of head\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome
\Disease\Congenital disease\Congenital hearing disorder\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 neuropathy\Disorder of facial nerve\Facial palsy\Sellars Beighton syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Sellars Beighton syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Sellars Beighton syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3305214019 Deafness with malformation of ear and facial palsy syndrome en Synonym Active Case insensitive SNOMED CT core

3305215018 Sellars Beighton syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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	Case insensitive	SNOMED CT core
3305214019	Deafness with malformation of ear and facial palsy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3305215018	Sellars Beighton syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core