Preferred Label : Sialidosis type 1;
ICD-11 definition : Type 1 sialidosis, also called normomorphic or 'cherry-red-spot, myoclonus' syndrome
is a form of sialidosis, a lysosomal storage disease belonging to the group of oligosaccharidoses
or glycoproteinoses, and is characerized by walking difficulties and/or a loss of
visual acuity and a cherry-red spot on the retina. They may also have generalised
myoclonus, in some cases associated with seizures.;
ICD-11 synonym : Normomorphic sialidosis; Cherry-red-spot-myoclonus syndrome; Lipomucopolysaccharidosis;
Origin ID : 1154773192;
UMLS CUI : C0268226;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to NTBT
Type 1 sialidosis, also called normomorphic or 'cherry-red-spot, myoclonus' syndrome
is a form of sialidosis, a lysosomal storage disease belonging to the group of oligosaccharidoses
or glycoproteinoses, and is characerized by walking difficulties and/or a loss of
visual acuity and a cherry-red spot on the retina. They may also have generalised
myoclonus, in some cases associated with seizures.