Sly Syndrome - CISMeF

Preferred Label : Sly Syndrome;

NCIt synonyms : Mucopolysaccharidosis Type VII; Beta-Glucuronidase Deficiency;

NCIt definition : A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta-glucuronidase. It is characterized by hepatosplenomegaly, skeletal deformities, enlarged head, and mental retardation.;

Details

Origin ID

C84903;

UMLS CUI

C0085132;

Currated CISMeF NLP mapping
- Deficiency of beta-glucuronidase (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis VII [MedDRA Preferred Term]
- Mucopolysaccharidosis type 7 [ORDO Disease]
- Mucopolysaccharidosis type 7 [ICD-11 More detail]
- Mucopolysaccharidosis type VII (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis, type VII [OMIM Phenotype]
- Sly mucopolysaccharidosis [PASCAL descriptor]
- Sly syndrome [DO Concept]
- Sly's syndrome [MedDRA LLT]
- mucopolysaccharidosis VII [MeSH concept]
- mucopolysaccharidosis type 7 [Disease (Nov.)]
- mucopolysaccharidosis vii [MeSH Descriptor]
- mucopolysaccharidosis, mps-vii [SNOMED Notion]
DO Cross reference
- Sly syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of beta-glucuronidase (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis VII [MedDRA Preferred Term]
- Mucopolysaccharidosis type 7 [ORDO Disease]
- Mucopolysaccharidosis type 7 [ICD-11 More detail]
- Mucopolysaccharidosis type VII (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis, type VII [OMIM Phenotype]
- Sly mucopolysaccharidosis [PASCAL descriptor]
- Sly syndrome [DO Concept]
- Sly's syndrome [MedDRA LLT]
- mucopolysaccharidosis VII [MeSH concept]
- mucopolysaccharidosis type 7 [Disease (Nov.)]
- mucopolysaccharidosis vii [MeSH Descriptor]
- mucopolysaccharidosis, mps-vii [SNOMED Notion]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- GUSB Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- GUSB Gene [NCIt concept]
- GUSB wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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