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

• SNOMED CT Concept\Clinical finding\...
• \Finding of movement\Movement disorder\Facial palsy\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Finding of movement\Motor dysfunction\Paralysis\Facial palsy\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \General finding of soft tissue\Peripheral nerve finding\Peripheral neuropathy\Disorder of facial nerve\Facial palsy\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \General finding of soft tissue\Peripheral nerve finding\Facial nerve finding\Facial palsy\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \General finding of soft tissue\Disorder of soft tissue\Peripheral neuropathy\Disorder of facial nerve\Facial palsy\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Finding of head and neck region\Disorder of facial nerve\Facial palsy\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss 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\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss 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\Congenital hereditary facial paralysis with variable hearing loss 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\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Finding of head and neck region\Facial nerve finding\Facial palsy\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Eye / vision finding\Visual system disorder\...
• \Disorder of eye region\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Hereditary disorder of the visual system\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Congenital anomaly of visual system\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Disorder of eye movements\Strabismus\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Neurological finding\Cranial nerve finding\Facial nerve finding\Facial palsy\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Facial palsy\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \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
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Strabismus\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Peripheral neuropathy\Disorder of facial nerve\Facial palsy\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of facial nerve\Facial palsy\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Peripheral neuropathy\Disorder of facial nerve\Facial palsy\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Disease\Disorder of head\Disorder of eye region\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Disease\Movement disorder\Facial palsy\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Disease\Disorder of soft tissue\Peripheral neuropathy\Disorder of facial nerve\Facial palsy\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Congenital hereditary facial paralysis with variable hearing loss syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital strabismus\Congenital hereditary facial paralysis with variable hearing loss syndrome

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3331812015	Congenital hereditary facial paralysis with variable hearing loss syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3331813013	Congenital hereditary facial palsy with variable deafness	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

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