autosomaal dominante hypofosfatemische botziekte	complicatie van urinewegen	congenitale nefropathie	hereditaire nefropathie	metabole nierziekte	renale tubulopathie
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dominante hypofosfatemie met nefrolithiase en/of osteoporose (aandoening)
	dominante hypofosfatemie met nefrolithiase en/of osteoporose
	dominante hypofosfatemie met niersteen en/of botontkalking dominante hypofosfatemie met calculus renalis en/of osteoporose
	Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis
	A rare genetic renal tubular disease characterized by hypophosphatemia, decreased renal phosphate resorption and hypercalciuria leading to calcium nephrolithiasis and/or nephrocalcinosis and osteoporosis, in the presence of normal/increased serum calcitriol levels.

Id	783620009
Status	Primitive

Associated morphology	dysplasie
Finding site	structuur van osteoïd weefsel
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Finding site	structuur van tubulus renalis
Occurrence	congenitaal

Associated morphology	verminderde mineralisatie
Finding site	botstructuur
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Due to

specifiek defect van renaletubulustransport

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	E83.3
Term	Stoornissen van fosformetabolisme en fosfatasen

SNOMED CT to Orphanet simple map

244305

SNOMED CT to ICD-10 extended map

Target	E83.3
Rule	TRUE
Advice	ALWAYS E83.3 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified