Preferred Label : Galactosialidosis;
ICD-11 definition : Galactosialidosis is a rare lysosomal storage disorder encompassing three clinical
phenotypes: the congenital or early infantile form (marked by edema, ascites, hepatosplenomegaly,
neurological disorders, renal failure, facial dysmorphism, skeletal anomalies and
cherry-red spots and early blindness), the late infantile form (normal or mildly affectedintellectual
development), and the juvenile and adult forms (slowly progressing neurological disorder,
facial dysmorphism, dysostosis mutiplex, cherry-red spots and corneal opacities and
angiokeratomas).;
ICD-11 synonym : Protective protein deficiency; Neuraminidase deficiency with beta-galactosidase deficiency; Combined deficiency of neuraminidase and beta-galactosidase; Goldberg syndrome;
Origin ID : 1838660035;
UMLS CUI : C0268233;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
Galactosialidosis is a rare lysosomal storage disorder encompassing three clinical
phenotypes: the congenital or early infantile form (marked by edema, ascites, hepatosplenomegaly,
neurological disorders, renal failure, facial dysmorphism, skeletal anomalies and
cherry-red spots and early blindness), the late infantile form (normal or mildly affectedintellectual
development), and the juvenile and adult forms (slowly progressing neurological disorder,
facial dysmorphism, dysostosis mutiplex, cherry-red spots and corneal opacities and
angiokeratomas).
