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bètamannosidose (aandoening)
bètamannosidose
Beta-D-mannosidosis
Beta-mannosidase deficiency
A very rare lysosomal storage disease with characteristics of developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.
Id238047006
StatusPrimitive
Has interpretationverlaagd
Interpretsgehoorfunctie
DHD Diagnosethesaurus-referentieset
DHD Verrichtingenthesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetE77.1
RuleTRUE
AdviceALWAYS E77.1
CorrelationSNOMED CT source code to target map code correlation not specified