Auditory system hereditary disorder	Autosomal dominant hereditary disorder	Disorder of sensory function	Hearing loss associated with syndrome	Hereditary peripheral neuropathy	Peripheral demyelinating neuropathy	Sensorineural hearing loss
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Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder)
	Peripheral neuropathy with sensorineural hearing impairment syndrome
	Neuropathy with hearing impairment
	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.
	syndroom van perifere neuropathie met perceptief gehoorverlies

Id	723497003
Status	Primitive

Interprets

Associated morphology	Demyelination
Finding site	Peripheral nerve structure

Finding site

Structure of auditory system

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	G60.8
Rule	TRUE
Advice	ALWAYS G60.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	H90.5
Rule	TRUE
Advice	ALWAYS H90.5
Correlation	SNOMED CT source code to target map code correlation not specified