Mucopolysaccharidosis Type IIIA

Preferred Label : Mucopolysaccharidosis Type IIIA;

NCIt synonyms : Sanfilippo A; MPS III A;

NCIt definition : A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures.;

Details

Origin ID

C84897;

UMLS CUI

C0086647;

Currated CISMeF NLP mapping
- MPS III A [MeSH concept]
- Mucopolysaccharidosis III-A (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis type 3A [ICD-11 More detail]
- Mucopolysaccharidosis, type iiia [OMIM Phenotype]
- Sanfilippo syndrome type A [ORDO Disease]
- mucopolysaccharidosis type IIIA [DO Concept]
- mucopolysaccharidosis type IIIa [Disease (Nov.)]
- mucopolysaccharidosis, mps-iii-a [SNOMED Notion]
DO Cross reference
- mucopolysaccharidosis type IIIA [DO Concept]
See also inter- (CISMeF)
- N-sulfoglucosamine sulfohydrolase [ORDO Gene]
- N-sulfoglucosamine sulfohydrolase [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- MPS III A [MeSH concept]
- Mucopolysaccharidosis III-A (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis type 3A [ICD-11 More detail]
- Mucopolysaccharidosis, type iiia [OMIM Phenotype]
- Sanfilippo syndrome type A [ORDO Disease]
- mucopolysaccharidosis type IIIA [DO Concept]
- mucopolysaccharidosis type IIIa [Disease (Nov.)]
- mucopolysaccharidosis, mps-iii-a [SNOMED Notion]
Validated automatic mappings to NTBT
- Mucopolysaccharidosis type 3 [ORDO Disease]
- Mucopolysaccharidosis type 3 [ICD-11 More detail]
- Sanfilippo syndrome [Disease (Nov.)]
- mucopolysaccharidosis iii [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SGSH Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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