||
hereditaire sensorische en autonome neuropathie type 1B (aandoening)
hereditaire sensorische en autonome neuropathie type 1B
HSAN 1B
Hereditary sensory and autonomic neuropathy type 1B
Hereditary sensory and autonomic neuropathy type 1 with cough and gastrooesophageal reflux
HSAN1B - hereditary sensory and autonomic neuropathy type 1B
Hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux
Characterized by the association of type 1 hereditary sensory and autonomic neuropathy with paroxysmal cough and gastroesophageal reflux. So far, it has been described in two families. Onset occurs in adulthood with distal sensory loss due to an axonal neuropathy, gastroesophageal reflux, and cough triggered by noxious odors or by pressure in the external auditory canal. The cough may be severe leading to syncope and retinal detachment. Additional features include throat clearing, a hoarse voice, and sensorineural hearing loss. Linkage to chromosome 3p22-p24 was found in both reported families. Transmission is autosomal dominant.
Id717825008
StatusPrimitive
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
SNOMED CT to Orphanet simple map139564
SNOMED CT to ICD-10 extended map
TargetG60.8
RuleTRUE
AdviceALWAYS G60.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified