autosomaal dominante hereditaire aandoening	hereditaire amyloïdose	hereditaire degeneratieve aandoening van centraal zenuwstelsel	prionziekte	systemische amyloïdose
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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
	A rare, autosomal dominant neurological disorder due to truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid. Onset is usually in the fourth decade of life and reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections.

Id	733422008
Status	Primitive

Associated morphology

depositie van amyloïd

Associated morphology	spongiforme degeneratie
Causative agent	prion
Finding site	structuur van encephalon
Pathological process	infectieus proces

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	E85.1
Term	Neuropathische heredofamiliale amyloïdose

SNOMED CT to Orphanet simple map

397606

SNOMED CT to ICD-10 extended map

Target	E85.1
Rule	TRUE
Advice	ALWAYS E85.1 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	G63.3
Rule	TRUE
Advice	ALWAYS G63.3 \| THIS CODE MAY BE USED IN THE PRIMARY POSITION WHEN THE MANIFESTATION IS THE PRIMARY FOCUS OF CARE
Correlation	SNOMED CT source code to target map code correlation not specified