722389002: Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)

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

\Finding of movement (finding)\Movement disorder\Facial palsy\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Finding of movement (finding)\Motor dysfunction\Paralysis\Facial palsy\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)

\General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Facial nerve disorder (disorder)\Facial palsy\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\General finding of soft tissue\Peripheral nerve finding\Seventh cranial nerve finding\Facial palsy\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Facial nerve disorder (disorder)\Facial palsy\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)

\Finding of head and neck region\Facial nerve disorder (disorder)\Facial palsy\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Finding of head and neck region\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\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\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\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\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\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\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Finding of head and neck region\Seventh cranial nerve finding\Facial palsy\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)

\Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)

\Eye / vision finding\Visual system disorder\...

\Disorder of eye region (disorder)\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)

\Hereditary disorder of the visual system (disorder)\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)

\Congenital anomaly of visual system\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)

\Disorder of eye movements\Strabismus\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)

\Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)

\Neurological finding\Cranial nerve finding\Seventh cranial nerve finding\Facial palsy\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Facial palsy\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Strabismus\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral nerve disease\Facial nerve disorder (disorder)\Facial palsy\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Facial nerve disorder (disorder)\Facial palsy\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Congenital hereditary facial paralysis with variable hearing loss 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\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Disease\Movement disorder\Facial palsy\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Disease\Disorder of soft tissue\Peripheral nerve disease\Facial nerve disorder (disorder)\Facial palsy\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3331811010 Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3331812015 Congenital hereditary facial paralysis with variable hearing loss syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3331813013 Congenital hereditary facial palsy with variable deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3331814019 An extremely rare autosomal recessive disorder with characteristics of bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears) and strabismus. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

915941000172114 syndrome de paralysie faciale congénitale héréditaire-surdité variable fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

895911000172115 congenitale erfelijke faciale paralyse, variabel gehoorverlies-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

993691000172114 congenitale erfelijke faciale paralyse, variabele doofheid-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Is a	Sensorineural hearing loss	true	Inferred relationship	Some
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Is a	Congenital strabismus	true	Inferred relationship	Some
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Is a	Facial palsy	true	Inferred relationship	Some
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Finding site	Facial nerve structure	true	Inferred relationship	Some	6
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	5
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Interprets	Hearing	true	Inferred relationship	Some	4
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Interprets	Functional observable	false	Inferred relationship	Some
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	6
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	7
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	7
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Finding site	Eye region structure (body structure)	false	Inferred relationship	Some	6
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Finding site	Face structure	false	Inferred relationship	Some	7
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Has interpretation	Absent	true	Inferred relationship	Some	1
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Interprets	Gross movement of body and limbs	false	Inferred relationship	Some	1
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	2
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Finding site	Eye region structure (body structure)	true	Inferred relationship	Some	3
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Interprets	Movement	true	Inferred relationship	Some	7
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Interprets	Movement observable	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3331811010	Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331812015	Congenital hereditary facial paralysis with variable hearing loss syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331813013	Congenital hereditary facial palsy with variable deafness	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331814019	An extremely rare autosomal recessive disorder with characteristics of bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears) and strabismus.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
915941000172114	syndrome de paralysie faciale congénitale héréditaire-surdité variable	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
895911000172115	congenitale erfelijke faciale paralyse, variabel gehoorverlies-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
993691000172114	congenitale erfelijke faciale paralyse, variabele doofheid-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)