Mucopolysaccharidosis type 3

Preferred Label : Mucopolysaccharidosis type 3;

ICD-11 definition : Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterised by severe and rapid intellectual deterioration. Deficiencies in one of the four enzymes required for heparan sulphate degradation are responsible for each of the MPS III subtypes: heparan sulfamidase for MPS IIIA, alpha-N-acetylglucosaminidase for MPS IIIB, alpha-glucosaminide N-acetyltransferase for MPS IIIC, and N-acetylglucosamine-6-sulfate sulfatase for MPS IIID.;

ICD-11 synonym : N-acetyl-alpha-glucosaminidase sulfamidase deficiency; Acetyl-CoA alpha-glucosaminide-N-acetyl transferase deficiency; Sanfilippo syndrome; N-acetyl-glucosamine-6-sulfate sulfatase deficiency;

Details

Origin ID

1477250013;

UMLS CUI

C0026706;

Currated CISMeF NLP mapping
- Mucopolysaccharidosis III [MedDRA Preferred Term]
- Mucopolysaccharidosis type 3 [ORDO Disease]
- Sanfilippo Syndrome [NCIt concept]
- Sanfilippo syndrome [Disease (Nov.)]
- Sanfilippo syndrome (disorder) [SNOMED CT concept]
- Sanfilippo's syndrome [MedDRA LLT]
- mucopolysaccharidosis III [DO Concept]
- mucopolysaccharidosis III [MeSH concept]
- mucopolysaccharidosis iii [MeSH Descriptor]
- sanfilippo syndrome, nos [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mucopolysaccharidosis III [MedDRA Preferred Term]
- Sanfilippo Syndrome [NCIt concept]
- Sanfilippo syndrome [Disease (Nov.)]
- Sanfilippo syndrome (disorder) [SNOMED CT concept]
- Sanfilippo's syndrome [MedDRA LLT]
- mucopolysaccharidosis III [MeSH concept]
- mucopolysaccharidosis III [DO Concept]
- mucopolysaccharidosis iii [MeSH Descriptor]
- sanfilippo syndrome, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- MPS III A [MeSH concept]
- Mucopolysaccharidosis III-A (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis Type IIIA [NCIt concept]
- Mucopolysaccharidosis, type iiia [OMIM Phenotype]
- Sanfilippo syndrome type A [ORDO Disease]
- mucopolysaccharidosis, mps-iii-a [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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