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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.
Id724002003
StatusPrimitive
Associated morphologyhyaliene degeneratie
Finding sitestructuur van klein bloedvat
Associated morphologypathologische calcificatie
Finding sitestructuur van cerebrum
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE78.8
TermOverige gespecificeerde stofwisselingsstoornissen van lipoproteïnen
TargetH34.2
TermOverige afsluitingen van retinale arteriën
TargetG93.8
TermOverige gespecificeerde hersenaandoeningen
SNOMED CT to Orphanet simple map3018
SNOMED CT to ICD-10 extended map
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