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systemische amyloïdose door prioneiwitmutatie (aandoening)
systemische amyloïdose door prioneiwitmutatie
Prion protein systemic amyloidosis
Chronic diarrhea with hereditary sensory and autonomic neuropathy
PrP (prion protein) systemic amyloidosis
An extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid.
Id733422008
StatusPrimitive
Associated morphologydepositie van amyloïd
Associated morphologyspongiforme degeneratie
Causative agentprion
Finding sitestructuur van encephalon
Pathological processinfectieus proces
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE85.1
TermNeuropathische heredofamiliale amyloïdose
SNOMED CT to Orphanet simple map397606
SNOMED CT to ICD-10 extended map
TargetE85.1
RuleTRUE
AdviceALWAYS E85.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified