Auditory system hereditary disorder
Autosomal dominant distal hereditary motor neuropathy
Chronic disease of ear
Chronic disease of musculoskeletal system
Chronic nervous system disorder
Disorder of sensory function
Hearing loss associated with syndrome
Hereditary disorder of musculoskeletal system
Hereditary myopathy
Myoneural disorder
Sensorineural hearing loss
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Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome (disorder)
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
Peripheral neuropathy, myopathy, hoarseness, deafness syndrome
A rare syndromic genetic deafness with characteristics of a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family. There is evidence the disease is caused by heterozygous mutation in the MYH14 gene on chromosome 19q13.
syndroom van perifere neuropathie, myopathie, heesheid en gehoorverlies
Id782752005
StatusPrimitive
Clinical courseProgressive
InterpretsHearing
Finding siteEar structure
Finding siteSkeletal muscle structure
Finding sitePeripheral nervous system structure
Finding siteNerve structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified