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bètamercaptolactaat-cysteïne-disulfidurie (aandoening)
bètamercaptolactaat-cysteïne-disulfidurie
Ampola-syndroom
Beta-mercaptolactate cysteine disulfiduria
Ampola syndrome
An extremely rare disorder of methionine cycle and sulfur amino acid metabolism with characteristics of increased urine excretion of beta-mercaptolactate-cysteine disulfide (due to deficiency of mercaptopyruvate sulfurtransferase activity in erythrocytes), leading to a positive cyanide nitroprusside test. Association with intellectual disability, congenital lens dislocation, and behavioral abnormalities has been reported, however the causal link remains to be established. There have been no further descriptions in the literature since 1981.
Id784373007
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetE72.1
RuleTRUE
AdviceALWAYS E72.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified