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galactosialidose (aandoening)
galactosialidose
Combined deficiency of sialidase AND beta galactosidase
Combined deficiency of neuroaminidase and beta galactosidase
Goldberg syndrome
Neuraminidase deficiency with beta-galactosidase deficiency
Protective protein deficiency
GSL - Galactosialidosis
Galactosialidosis
A lysosomal storage disease with characteristics of coarse facial features, macular cherry red spot, and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.
Id35691006
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
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 map351
SNOMED CT to ICD-10 extended map
TargetE77.1
RuleTRUE
AdviceALWAYS E77.1
CorrelationSNOMED CT source code to target map code correlation not specified