| gecombineerd hamartoom van retina en retinaal pigmentepitheel (aandoening) | | gecombineerd hamartoom van retina en retinaal pigmentepitheel | | gecombineerd hamartoom van retina en RPE
| | Combined hamartoma of retina and retinal pigment epithelium | | CHR-RPE - combined hamartoma of retina and retinal pigment epithelium
| | A rare benign eye tumor characterized by the presence of glial cells, vascular tissue and sheets of pigment epithelial cells lacking the distribution and organization of the normal retina and retinal pigment epithelium. The lesion is most commonly found unilaterally as a slightly elevated mass in a peripapillary location but can also occur in the macula or the retinal periphery. It is sometimes associated with neurofibromatosis type 1 or 2, nevoid basal cell carcinoma syndrome, or branchio-oculo-facial syndrome. Patients may be asymptomatic or present with progressive loss of vision. |
| | Id | 1229998009 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 440727 |
| SNOMED CT to ICD-10 extended map | | Target | Q85.9 | | Rule | TRUE | | Advice | ALWAYS Q85.9 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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