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Leukoencephalopathy with calcifications and cysts (disorder)
Leukoencephalopathy with calcifications and cysts
Labrune syndrome
A rare genetic cerebral small vessel disease characterized by leukoencephalopathy and cerebral calcification and cysts due to diffuse cerebral microangiopathy resulting in microcystic and macrocystic parenchymal degeneration. The condition can present at any age from early childhood to late adulthood and manifests as a progressive cerebral degeneration. Symptoms are variable, but restricted to the central nervous systems, and include, among others, slowing of cognitive performance, seizures, and movement disorder with a combination of pyramidal, extrapyramidal, and cerebellar features.
Id1186710001
StatusPrimitive
Associated morphologyPathologic calcification
Finding siteCerebrum
Associated morphologyCyst
Finding siteCerebrum
SNOMED CT to Orphanet simple map
SNOMED CT to ICD-10 extended map
TargetI67.8
RuleTRUE
AdviceALWAYS I67.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified