Mucopolysaccharidosis type 3A

Preferred Label : Mucopolysaccharidosis type 3A;

ICD-11 synonym : Heparan sulfamidase deficiency; Heparan sulfate sulfatase deficiency; Sanfilippo syndrome type A; Heparan-N-sulfatase deficiency;

Details

Origin ID

182200345;

UMLS CUI

C0086647;

Currated CISMeF NLP mapping
- 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 type IIIA [DO Concept]
- mucopolysaccharidosis type IIIa [Disease (Nov.)]
- mucopolysaccharidosis, mps-iii-a [SNOMED Notion]
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 IIIA [NCIt concept]
- 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]
- Sanfilippo Syndrome [NCIt concept]
- Sanfilippo syndrome (disorder) [SNOMED CT concept]
- Sanfilippo's syndrome [MedDRA LLT]
- mucopolysaccharidosis III [DO Concept]
- mucopolysaccharidosis iii [MeSH Descriptor]
- sanfilippo syndrome, nos [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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