| 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
| | 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. |
| | Id | 764452004 | | Status | Primitive |
| 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 |
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| 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 |
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