sialidose (aandoening)
Mucolipidosis type I
Neuroaminidase deficiency
Sialidase deficiency
Mucolipidosis, type I
Neuraminidase deficiency
Mucolipidosis I
A lysosomal storage disease, belonging to the group of oligosaccharidosis or with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease with characteristics of gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II (see this term) the more severe, early onset form, with characteristics of progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations.
PALGA thesaurus simple reference set for pathology
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOnvolledige glycoproteïneafbraak
SNOMED CT to Orphanet simple map309294
SNOMED CT to ICD-10 extended map
AdviceALWAYS E77.1
CorrelationSNOMED CT source code to target map code correlation not specified