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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
Syndrome with characteristics of progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis). It has been described in five patients (three sisters in a family and two sisters born to consanguineous parents). This syndrome is transmitted as an autosomal recessive trait.
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 neuropathie├źn
SNOMED CT to Orphanet simple map3217
SNOMED CT to ICD-10 extended map
TargetH90.5
RuleTRUE
AdviceALWAYS H90.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetG60.8
RuleTRUE
AdviceALWAYS G60.8
CorrelationSNOMED CT source code to target map code correlation not specified