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Beta-D-mannosidosis (disorder)
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.
bètamannosidose
Id238047006
StatusPrimitive
Has interpretationDecreased
InterpretsHearing
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetE77.1
RuleTRUE
AdviceALWAYS E77.1
CorrelationSNOMED CT source code to target map code correlation not specified