|||||
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
Has interpretationgestoord
Interpretsgehoorfunctie
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG60.8
TermOverige gespecificeerde hereditaire en idiopathische neuropathie├źn
TargetH93.3
TermAandoeningen van nervus vestibulo cochlearis
SNOMED CT to Orphanet simple map139583
SNOMED CT to ICD-10 extended map
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