Autosomal recessive hereditary disorder	Cardiovascular system hereditary disorder	Congenital retinal aneurysm	Congenital supravalvular pulmonary stenosis	Developmental hereditary disorder	Familial disease	Hereditary disorder of the visual system	Retinal macroaneurysm
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Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (disorder)
	Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
	FRAM - familial retinal arterial macroaneurysm RAMSVPS - retinal arterial macroaneurysm with supravalvular pulmonic stenosis Familial retinal arterial macroaneurysm
	Syndrome with characteristics of macroaneurysms of retina which may rupture causing bleeding and loss of vision, in association with supravalvular pulmonic stenosis. The disease is caused by a mutation in the IGFBP7 (insulin-like growth factor-binding protein 7) gene which is active in the vascular endothelium. The IGFBP7 gene mutation results in an abnormally short IGFBP7 protein that does not function properly.
	arterieel retinaal macroaneurysma met supravalvulaire pulmonalisklepstenose

Id	764452004
Status	Primitive

Associated morphology	Macroaneurysm
Finding site	Structure of retinal artery

Associated morphology	Aneurysm
Finding site	Structure of retinal artery
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Stenosis
Finding site	Suprapulmonic valve area structure
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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