storage-pool disease
tyrosinase-positief oculocutaan albinisme
||
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
Id9311003
StatusPrimitive
Associated morphologyverminderde melaninepigmentatie
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyverminderde melaninepigmentatie
Finding sitestructuur van bulbus oculi
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationafwijkend
Interpretshemostase
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map79430
SNOMED CT to ICD-10 extended map
TargetE70.3
RuleTRUE
AdviceALWAYS E70.3
CorrelationSNOMED CT source code to target map code correlation not specified