autosomaal recessieve hereditaire aandoening	congenitaal aneurysma van retina	familiaire aandoening	hereditaire aandoening van cardiovasculair systeem	hereditaire aandoening van visueel systeem	hereditaire ontwikkelingsstoornis	retinaal macro-aneurysma	supravalvulaire pulmonalis stenose
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arterieel retinaal macroaneurysma met supravalvulaire pulmonalisklepstenose (aandoening)
	arterieel retinaal macroaneurysma met supravalvulaire pulmonalisklepstenose
	Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
	FRAM - familial retinal arterial macroaneurysm RAMSVPS - retinal arterial macroaneurysm with supravalvular pulmonic stenosis Familial retinal arterial macroaneurysm
	A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction.

Id	764452004
Status	Primitive

Associated morphology	macroaneurysma
Finding site	structuur van arteria retinae

Associated morphology	aneurysma
Finding site	structuur van arteria retinae
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	stenose
Finding site	structuur van gebied boven pulmonalisklep
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q14.1
Term	Congenitale misvorming van retina

Target	Q25.6
Term	Stenose van arteria pulmonalis

SNOMED CT to Orphanet simple map

284247

SNOMED CT to ICD-10 extended map

Target	Q14.1
Rule	TRUE
Advice	ALWAYS Q14.1
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q25.6
Rule	TRUE
Advice	ALWAYS Q25.6
Correlation	SNOMED CT source code to target map code correlation not specified