storage-pool disease	tyrosinase-positief oculocutaan albinisme
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Hermansky-Pudlak-syndroom (aandoening)
	Hermansky-Pudlak-syndroom
	syndroom van Hermansky-Pudlak HPS
	Hermansky-Pudlak syndrome
	Albinism with hemorrhagic diathesis Hermansky Pudlak syndrome Alpha storage pool disease

Id	9311003
Status	Primitive

Associated morphology	verminderde melaninepigmentatie
Finding site	structuur van huid
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	verminderde melaninepigmentatie
Finding site	structuur van bulbus oculi
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Has interpretation	afwijkend
Interprets	hemostase

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	E70.3
Term	Albinisme

SNOMED CT to Orphanet simple map

79430

SNOMED CT to ICD-10 extended map

Target	E70.3
Rule	TRUE
Advice	ALWAYS E70.3
Correlation	SNOMED CT source code to target map code correlation not specified