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op volwassen leeftijd optredende vitelliforme maculadystrofie (aandoening)
op volwassen leeftijd optredende vitelliforme maculadystrofie
Adult vitelliform macular dystrophy
Gass disease
Adult-onset foveomacular dystrophy
Pseudo-Best disease
Pseudo-vitelliform macular dystrophy
AVMD - adult vitelliform macular dystrophy
AOFMD - adult-onset foveomacular dystrophy
Adult-onset vitelliform macular dystrophy
A rare genetic macular dystrophy with characteristics of blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated yellow egg yolk-like lesion located in the foveal or parafoveal region. Clinical onset is typically between the fourth and sixth decade of life. The mechanism underlying the physiopathology is unknown. An autosomal dominant inheritance with variable expression and incomplete penetrance is suggested but the disease can also be sporadic without evidence of a familial inheritance pattern.
Id232049001
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van macula lutea
Occurrencevolwassenheid
Clinical courseprogressief
Associated morphologydepositie
Finding sitestructuur van macula lutea
Occurrencevolwassenheid
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetH35.5
TermHereditaire retinadystrofie
SNOMED CT to Orphanet simple map99000
SNOMED CT to ICD-10 extended map
TargetH35.5
RuleTRUE
AdviceALWAYS H35.5
CorrelationSNOMED CT source code to target map code correlation not specified
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