Sialidosis type 1

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;

Détails

Origin ID

1154773192;

UMLS CUI

C0268226;

Automatic exact mappings (from CISMeF team)
- Sialidosis type 1 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Lipomucopolysaccharidosis [PASCAL descriptor]
- Normosomatic sialidosis (disorder) [Inactive SNOMED CT concept]
- Sialidosis type 1 [ORDO Disease]
- lipomucopolysaccharidosis [MeSH concept]
- normosomatic sialidosis [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lipomucopolysaccharidosis [PASCAL descriptor]
- Mucolipidosis type I [MedDRA Preferred Term]
- Neuraminidase Deficiency [NCIt concept]
- Normosomatic sialidosis (disorder) [Inactive SNOMED CT concept]
- Sialidosis [MedDRA LLT]
- Sialidosis (disorder) [SNOMED CT concept]
- Sialidosis type 1 [ORDO Disease]
- normosomatic sialidosis [SNOMED Notion]
- sialidosis [SNOMED Notion]
- type I mucolipidosis [MeSH concept]
Validated automatic mappings to NTBT
- Neuraminidase deficiency [OMIM Phenotype]
- mucolipidoses [MeSH Descriptor]

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