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galactosialidose (aandoening)
galactosialidose
Combined deficiency of sialidase AND beta galactosidase
Protective protein deficiency
GSL - Galactosialidosis
Galactosialidosis
Combined deficiency of neuroaminidase and beta galactosidase
Goldberg syndrome
Neuraminidase deficiency with beta-galactosidase deficiency
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 Diagnosethesaurus-referentieset
DHD Verrichtingenthesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetE77.1
RuleTRUE
AdviceALWAYS E77.1
CorrelationSNOMED CT source code to target map code correlation not specified