| syndroom van retinale ischemie, hyalinisatie van kleine bloedvaten in spijsverteringskanaal en diffuse cerebrale calcificatie (aandoening) | | syndroom van retinale ischemie, hyalinisatie van kleine bloedvaten in spijsverteringskanaal en diffuse cerebrale calcificatie | | Rambaud Gallian syndrome | | Rambaud Gallian Touchard syndrome
Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome
| | A rare systemic disease characterized by progressive hyalinosis involving capillaries, arterioles and small veins of the digestive tract, kidneys, and retina, associated with idiopathic cerebral calcifications, manifesting with severe diarrhea (with rectal bleeding and malabsorption), nephropathy (with renal failure and systemic hypertension), chorioretinal scarring, and subarachnoid hemorrhage. Poikiloderma and premature graying of the hair may be additionally observed. |
| | Id | 724002003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 3018 |
| SNOMED CT to ICD-10 extended map | | Target | E78.8 | | Rule | TRUE | | Advice | ALWAYS E78.8 | 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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