mucopolysaccharidosis vii

Preferred Label : mucopolysaccharidosis vii;

MeSH definition : Mucopolysaccharidosis characterized by excessive dermatan and heparan sulfates in the urine and Hurler-like features. It is caused by a deficiency of beta-glucuronidase.;

MeSH synonym : sly syndrome; sly disease; mucopolysaccharidosis 7; viis, mucopolysaccharidosis; syndrome, sly; disease, sly; mucopolysaccharidosis viis; deficiency, GUSB; GUSB deficiencies; mucopolysaccharidosis type VII; mucopolysaccharidosis type VIIs; type VII, mucopolysaccharidosis; type VIIs, mucopolysaccharidosis; beta-Glucuronidase deficiency; deficiencies, beta-Glucuronidase; deficiency, beta-Glucuronidase; beta glucuronidase deficiency; beta-Glucuronidase deficiencies; GUSB deficiency; deficiencies, GUSB;

MeSH annotation : do not use /congen & do not coord with INFANT, NEWBORN, DISEASES; DF: MPS VII;

Details

Origin ID

D016538;

UMLS CUI

C0085132;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
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 Syndrome [NCIt concept]
- Sly mucopolysaccharidosis [PASCAL descriptor]
- Sly syndrome [DO Concept]
- Sly's syndrome [MedDRA LLT]
- mucopolysaccharidosis type 7 [Disease (Nov.)]
- mucopolysaccharidosis, mps-vii [SNOMED Notion]
DO Cross reference
- Sly syndrome [DO Concept]
Manual NTBT mappings (CISMeF)
- Lysosomal storage disease with skeletal involvement [ORDO Disease]
ORDO relation(s)
- Mucopolysaccharidosis type 7 [ORDO Disease]
Record concept(s)
- mucopolysaccharidosis VII [MeSH concept]
See also (suggested by CISMeF)
- glucuronidase [MeSH Descriptor]
See also inter- (CISMeF)
- Hurler like syndrome [Disease (Nov.)]
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 Syndrome [NCIt concept]
- Sly mucopolysaccharidosis [PASCAL descriptor]
- Sly syndrome [DO Concept]
- Sly's syndrome [MedDRA LLT]
- mucopolysaccharidosis type 7 [Disease (Nov.)]
- mucopolysaccharidosis, mps-vii [SNOMED Notion]

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