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X-gebonden hereditaire sensorische en autonome neuropathie met doofheid (aandoening)
X-gebonden hereditaire sensorische en autonome neuropathie met doofheid
X-gebonden auditieve neuropathie met perifere sensorische neuropathie type 1
X-gebonden HSAN met doofheid
X-gebonden congenitaal pijnongevoeligheidssyndroom met doofheid
X-gebonden erfelijke sensibel-autonome neuropathie met doofheid
X-linked hereditary sensory and autonomic neuropathy with deafness
X-linked HSAN (hereditary sensory and autonomic neuropathy) with deafness
X-linked auditory neuropathy with peripheral sensory neuropathy type 1
This syndrome has characteristics of axonal sensory and autonomic neuropathy with hearing loss. It has been described in a large five-generation Chinese family. Onset occurred in the second decade of life with mild to severe hearing impairment due to degeneration of the auditory nerve, followed by late-onset of a diffuse and progressive peripheral sensory neuropathy. The causative gene was mapped to the AUNX1 locus on chromosome Xq23-27.3. Transmission was X-linked recessive.
Id719838008
StatusPrimitive
Interpretsgehoorfunctie
referentieset met complexe 'mapping' naar ICD-10
TargetG60.8
RuleTRUE
AdviceALWAYS G60.8
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH93.3
RuleTRUE
AdviceALWAYS H93.3
CorrelationSNOMED CT source code to target map code correlation not specified