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Fucosidosis (disorder)
Fucosidosis
Alpha-L-fucosidase deficiency
Fucosidase deficiency
alpha-L-fucosidase deficiency
Fucosidosis is an extremely rare lysosomal storage disorder with characteristics of a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.
fucosidose
Id64716005
StatusPrimitive
OccurrenceCongenital
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
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