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syndroom van retinale ischemie, hyalinisatie van kleine bloedvaten in tractus digestivus en diffuse cerebrale calcificatie (aandoening)
syndroom van retinale ischemie, hyalinisatie van kleine bloedvaten in tractus digestivus en diffuse cerebrale calcificatie
Rambaud Gallian syndrome
Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome
Rambaud Gallian Touchard 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.
Id724002003
StatusPrimitive
Associated morphologyhyaliene degeneratie
Finding sitestructuur van klein bloedvat
Associated morphologypathologische calcificatie
Finding sitestructuur van cerebrum
referentieset met complexe 'mapping' naar ICD-10
TargetE78.8
RuleTRUE
AdviceALWAYS E78.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH34.2
RuleTRUE
AdviceALWAYS H34.2
CorrelationSNOMED CT source code to target map code correlation not specified
TargetG93.8
RuleTRUE
AdviceALWAYS G93.8
CorrelationSNOMED CT source code to target map code correlation not specified