Mucopolysaccharidosis Type IIIC

Preferred Label : Mucopolysaccharidosis Type IIIC;

NCIt synonyms : Sanfilippo C; MPS III C;

NCIt definition : A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays.;

Details

Origin ID

C84899;

UMLS CUI

C0086649;

Automatic exact mappings (from CISMeF team)
- mucopolysaccharidosis iii [MeSH Descriptor]
Currated CISMeF NLP mapping
- MPS III C [MeSH concept]
- Mucopolysaccharidosis III-C (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis type 3C [ICD-11 More detail]
- 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]
DO Cross reference
- mucopolysaccharidosis type IIIC [DO Concept]
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 3C [ICD-11 More detail]
- 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]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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