Preferred Label : Fucosidosis;
ICD-11 definition : Fucosidosis is a very rare lysosomal storage disorder belonging to the group of oligosaccharidoses
or glycoproteinoses. Manifestations include facial dysmorphism, dysostosis multiplex,
moderate hepatomegaly, severe intellectual deficit, deafness, and according to age,
angiokeratomas. Every intermediate form exists, ranging from severe (type 1: onset
between 3 and 18 months of age) to moderate (type 2, with a slower progression).;
ICD-11 synonym : Alpha-L-fucosidase deficiency;
Origin ID : 1470242510;
UMLS CUI : C0016788;
Currated CISMeF NLP mapping
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to NTBT
Fucosidosis is a very rare lysosomal storage disorder belonging to the group of oligosaccharidoses
or glycoproteinoses. Manifestations include facial dysmorphism, dysostosis multiplex,
moderate hepatomegaly, severe intellectual deficit, deafness, and according to age,
angiokeratomas. Every intermediate form exists, ranging from severe (type 1: onset
between 3 and 18 months of age) to moderate (type 2, with a slower progression).