|||||||||||
syndroom van doofheid, diverticulose van dunne darm en neuropathie (aandoening)
syndroom van doofheid, diverticulose van dunne darm en neuropathie
Deafness, small bowel diverticulosis, neuropathy syndrome
Groll Hirschowitz syndrome
A rare neurologic disease characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities, including progressive loss of gastric motility and small bowel diverticulosis and ulcerations, resulting in cachexia. Additional neurological manifestations may include dysarthria and absent tendon reflexes, as well as ptosis and external ophthalmoplegia. There have been no further descriptions in the literature since 1985.
Id733071009
StatusPrimitive
Interpretsgehoorfunctie
Finding sitestructuur van oor
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetH90.5
TermGehoorverlies door perceptiestoornis, niet gespecificeerd
TargetG60.8
TermOverige gespecificeerde hereditaire en idiopathische neuropathieën
SNOMED CT to Orphanet simple map3217
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
TargetH90.5
RuleTRUE
AdviceALWAYS H90.5
CorrelationSNOMED CT source code to target map code correlation not specified