Mucopolysaccharidosis type 3C

Preferred Label : Mucopolysaccharidosis type 3C;

ICD-11 synonym : Sanfilippo syndrome type C; Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency; N-acetyl transferase deficiency;

Details

Origin ID

1755913480;

UMLS CUI

C0086649;

Currated CISMeF NLP mapping
- MPS III C [MeSH concept]
- Mucopolysaccharidosis III-C (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis Type IIIC [NCIt concept]
- Mucopolysaccharidosis, type iiic [OMIM Phenotype]
- Sanfilippo syndrome type C [ORDO Disease]
- mucopolysaccharidosis type IIIC [DO Concept]
- mucopolysaccharidosis type IIIc [Disease (Nov.)]
- mucopolysaccharidosis, mps-iii-c [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- MPS III C [MeSH concept]
- Mucopolysaccharidosis III-C (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis Type IIIC [NCIt concept]
- Mucopolysaccharidosis, type iiic [OMIM Phenotype]
- Sanfilippo syndrome type C [ORDO Disease]
- mucopolysaccharidosis type IIIC [DO Concept]
- mucopolysaccharidosis type IIIc [Disease (Nov.)]
- mucopolysaccharidosis, mps-iii-c [SNOMED Notion]
Validated automatic mappings to NTBT
- mucopolysaccharidosis iii [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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