Preferred Label : Beta-mannosidosis;
ICD-11 definition : Beta-mannosidosis is a rare lysosomal disorder that belongs to the group of oligosaccharidoses.
It is characterized by the intracellular accumulation of a disaccharide due to the
deficient activity of lysosomal beta-mannosidase. Clinical manifestations include
intellectual deficit, hearing loss, sometimes neurological symptoms such as hypotonia
and convulsions, dysmorphic features, and repeated respiratory infections.;
ICD-11 synonym : Lysosomal beta-mannosidase deficiency;
Origin ID : 1578707401;
UMLS CUI : C4048196;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Beta-mannosidosis is a rare lysosomal disorder that belongs to the group of oligosaccharidoses.
It is characterized by the intracellular accumulation of a disaccharide due to the
deficient activity of lysosomal beta-mannosidase. Clinical manifestations include
intellectual deficit, hearing loss, sometimes neurological symptoms such as hypotonia
and convulsions, dysmorphic features, and repeated respiratory infections.
