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encefalopathie door sulfietoxidasedeficiëntie (aandoening)
encefalopathie door sulfietoxidasedeficiëntie
Encephalopathy due to sulfite oxidase deficiency
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation.
Id715980003
StatusDefined
Associated morphologyluxatie
Finding sitestructuur van lens cristallina
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map833
SNOMED CT to ICD-10 extended map
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