| 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. |
| | Id | 232049001 | | Status | Primitive |
| General Practice / Family Practice reference set |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | H35.5 | | Term | Hereditaire retinadystrofie |
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| SNOMED CT to Orphanet simple map | 99000 |
| SNOMED CT to ICD-10 extended map | | Target | H35.5 | | Rule | TRUE | | Advice | ALWAYS H35.5 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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