Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome (disorder) | | 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. | | syndroom van retinale ischemie, hyalinisatie van kleine bloedvaten in spijsverteringskanaal en diffuse cerebrale calcificatie |
| Id | 724002003 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
ICD-10 complex map reference set | 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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