Preferred Label : Sialidosis type 2;
ICD-11 definition : Sialidosis is a lysosomal storage disease belonging to the group of oligosaccharidoses
or glycoproteinoses. Two types of sialidosis have been defined, type 2 (also referred
to as the infantile, dysmorphic form of sialidosis) and type 1 (a later onset form
without major dysmorphic features).;
ICD-11 synonym : Infantile dysmorphic sialidosis;
Origin ID : 1855856697;
Currated CISMeF NLP mapping
- Validated automatic mappings to BTNT
Sialidosis is a lysosomal storage disease belonging to the group of oligosaccharidoses
or glycoproteinoses. Two types of sialidosis have been defined, type 2 (also referred
to as the infantile, dysmorphic form of sialidosis) and type 1 (a later onset form
without major dysmorphic features).
