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fucosidose (aandoening)
fucosidose
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.
Id64716005
StatusPrimitive
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE77.1
TermOnvolledige glycoproteïneafbraak
SNOMED CT to Orphanet simple map349
SNOMED CT to ICD-10 extended map
TargetE77.1
RuleTRUE
AdviceALWAYS E77.1
CorrelationSNOMED CT source code to target map code correlation not specified
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