723497003: Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Peripheral nerve finding\Peripheral neuropathy\Peripheral demyelinating neuropathy\Peripheral neuropathy with sensorineural hearing impairment syndrome
• \General finding of soft tissue\Disorder of soft tissue\Peripheral neuropathy\Peripheral demyelinating neuropathy\Peripheral neuropathy with sensorineural hearing impairment syndrome
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Peripheral neuropathy with sensorineural hearing impairment syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Peripheral neuropathy with sensorineural hearing impairment syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Peripheral neuropathy with sensorineural hearing impairment syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Peripheral neuropathy with sensorineural hearing impairment syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Peripheral neuropathy with sensorineural hearing impairment syndrome
• \Functional finding\Hearing finding\Hearing disorder\Hearing loss\...
• \Hearing loss associated with syndrome\Peripheral neuropathy with sensorineural hearing impairment syndrome
• \Sensorineural hearing loss\Peripheral neuropathy with sensorineural hearing impairment syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Peripheral neuropathy with sensorineural hearing impairment syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Peripheral neuropathy with sensorineural hearing impairment syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Peripheral neuropathy with sensorineural hearing impairment syndrome
• \Disease\Degenerative disorder\Peripheral demyelinating neuropathy\Peripheral neuropathy with sensorineural hearing impairment syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Peripheral neuropathy with sensorineural hearing impairment syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Peripheral neuropathy with sensorineural hearing impairment syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Peripheral neuropathy with sensorineural hearing impairment syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Peripheral neuropathy with sensorineural hearing impairment syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Peripheral neuropathy with sensorineural hearing impairment syndrome
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Peripheral neuropathy\Peripheral demyelinating neuropathy\Peripheral neuropathy with sensorineural hearing impairment syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Peripheral neuropathy with sensorineural hearing impairment syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Peripheral neuropathy\Peripheral demyelinating neuropathy\Peripheral neuropathy with sensorineural hearing impairment syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Peripheral neuropathy with sensorineural hearing impairment syndrome
• \Disease\Disorder of soft tissue\Peripheral neuropathy\Peripheral demyelinating neuropathy\Peripheral neuropathy with sensorineural hearing impairment syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3424833019	Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3424834013	Peripheral neuropathy with sensorineural hearing impairment syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3424835014	Neuropathy with hearing impairment	en	Synonym	Active	Case insensitive	SNOMED CT core
3424836010	Syndrome with the association of sensorineural hearing impairment and peripheral neuropathy. It has been described in members from four generations of a Spanish family. The hearing impairment was mild and often asymmetrical. The neuropathy was demyelinating with predominantly sensory involvement but severity was variable ranging from asymptomatic individuals to patients with skin ulcers and osteomyelitis requiring amputation. Caused by mutations in the GJB3 gene (1p34). The syndrome is transmitted in an autosomal dominant manner.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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