| 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
| | Syndrome that is characterized by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract and kidneys and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikiloderma and graying hair, as well as severe diarrhea, rectal bleeding, malabsorption and subarachnoid hemorrhage. |
| | Id | 724002003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E78.8 | | Term | Overige gespecificeerde stofwisselingsstoornissen van lipoproteïnen |
| Target | H34.2 | | Term | Overige afsluitingen van retinale arteriën |
| Target | G93.8 | | Term | Overige gespecificeerde hersenaandoeningen |
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| 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 |
| Target | H34.2 | | Rule | TRUE | | Advice | ALWAYS H34.2 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | G93.8 | | Rule | TRUE | | Advice | ALWAYS G93.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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