Sanfilippo Syndrome

Preferred Label : Sanfilippo Syndrome;

NCIt synonyms : Mucopolysaccharidosis Type III;

NCIt definition : A rare autosomal recessive lysosomal storage disease affecting the metabolism of mucopolysaccharides. Signs and symptoms include behavioral changes, sleep disorders, mental developmental delays, and seizures.;

Details

Origin ID

C61262;

UMLS CUI

C0026706;

Currated CISMeF NLP mapping
- Mucopolysaccharidosis III [MedDRA Preferred Term]
- Mucopolysaccharidosis type 3 [ORDO Disease]
- Mucopolysaccharidosis type 3 [ICD-11 More detail]
- 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]
DO Cross reference
- mucopolysaccharidosis III [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mucopolysaccharidosis III [MedDRA Preferred Term]
- Mucopolysaccharidosis type 3 [ICD-11 More detail]
- 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]
Validated automatic mappings to BTNT
- MPS III A [MeSH concept]
- Mucopolysaccharidosis III-A (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis type 3A [ICD-11 More detail]
- Mucopolysaccharidosis, type iiia [OMIM Phenotype]
- Mucopolysaccharidosis, type iiib [OMIM Phenotype]
- Mucopolysaccharidosis, type iiic [OMIM Phenotype]
- Mucopolysaccharidosis, type iiid [OMIM Phenotype]
- Sanfilippo syndrome type A [ORDO Disease]
- mucopolysaccharidosis type IIIa [Disease (Nov.)]
- mucopolysaccharidosis, mps-iii-a [SNOMED Notion]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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