mucopolysaccharidosis VI

Preferred Label : mucopolysaccharidosis VI;

MeSH definition : Mucopolysaccharidosis with excessive CHONDROITIN SULFATE B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-ACETYLGALACTOSAMINE-4-SULFATASE (arylsulfatase B).;

MeSH synonym : polydystrophic dwarfism; dwarfism, polydystrophic; type 6, mucopolysaccharidosis; maroteaux-lamy syndrome; mucopolysaccharidosis 6; arylsulfatase B deficiency; deficiencies, arylsulfatase B; deficiency, arylsulfatase B; deficiencies, N-Acetylgalactosamine-4-Sulfatase; N-Acetylgalactosamine-4-Sulfatase deficiencies; arylsulfatase B deficiencies; deficiency, N-Acetylgalactosamine-4-Sulfatase; mucopolysaccharidosis type 6; N-Acetylgalactosamine-4-Sulfatase deficiency; syndrome, maroteaux-lamy; maroteaux lamy syndrome; mucopolysaccharidosis type VI; type VI, mucopolysaccharidosis; ARSB deficiency; ARSB deficiencies; deficiencies, ARSB; deficiency, ARSB;

CISMeF synonym : vis, mucopolysaccharidosis; 6, mucopolysaccharidosis type; mucopolysaccharidosis type 6s; mucopolysaccharidosis vis; type 6s, mucopolysaccharidosis;

Details

Origin ID

D009087;

UMLS CUI

C0026709;

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]
Automatic exact mappings (from CISMeF team)
- Cergutuzumab Amunaleukin [NCIt concept]
- Diastrophic dysplasia [PASCAL descriptor]
- Disrupted In Renal Carcinoma 3 [NCIt concept]
- Grade 2 Larynx Infection with Unknown Absolute Neutrophil Count, CTCAE [NCIt concept]
- Grade 2 Mucosa Infection with Unknown Absolute Neutrophil Count, CTCAE [NCIt concept]
- Grade 2 Vulva Infection with Unknown Absolute Neutrophil Count, CTCAE [NCIt concept]
- Grade 3 Larynx Infection with Unknown Absolute Neutrophil Count, CTCAE [NCIt concept]
- Grade 3 Mucosa Infection with Unknown Absolute Neutrophil Count, CTCAE [NCIt concept]
- Grade 4 Artery Infection with Unknown Absolute Neutrophil Count, CTCAE [NCIt concept]
- Grade 4 Larynx Infection with Unknown Absolute Neutrophil Count, CTCAE [NCIt concept]
- Grade 4 Mucosa Infection with Unknown Absolute Neutrophil Count, CTCAE [NCIt concept]
- Grade 4 Vulva Infection with Unknown Absolute Neutrophil Count, CTCAE [NCIt concept]
- Grade 5 Ileum Infection with Unknown Absolute Neutrophil Count, CTCAE [NCIt concept]
- Grade 5 Mucosa Infection with Unknown Absolute Neutrophil Count, CTCAE [NCIt concept]
- Grade 5 Vulva Infection with Unknown Absolute Neutrophil Count, CTCAE [NCIt concept]
- Maroteaux mucopolysaccharidosis [PASCAL descriptor]
Currated CISMeF NLP mapping
- Deficiency of N-acetylgalactosamine-4-sulfatase (disorder) [SNOMED CT concept]
- Maroteaux Lamy syndrome [Disease (Nov.)]
- Maroteaux-Lamy Syndrome [NCIt concept]
- Maroteaux-Lamy syndrome [MedDRA LLT]
- Maroteaux-Lamy syndrome (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis VI [MedDRA Preferred Term]
- Mucopolysaccharidosis type 6 [ICD-11 Sub-sub category]
- Mucopolysaccharidosis type 6 [ORDO Disease]
- Mucopolysaccharidosis, type VI [OMIM Phenotype]
- maroteaux-lamy syndrome, nos [SNOMED Notion]
- mucopolysaccharidosis VI [DO Concept]
DO Cross reference
- mucopolysaccharidosis VI [DO Concept]
Manual NTBT mappings (CISMeF)
- Lysosomal storage disease with skeletal involvement [ORDO Disease]
- Metabolic disease with corneal opacity [ORDO Disease]
MeSH Descriptor(s) used for indexing
- N-Acetylgalactosamine-4-Sulfatase [MeSH Descriptor]
ORDO relation(s)
- Mucopolysaccharidosis type 6 [ORDO Disease]
Record concept(s)
- mucopolysaccharidosis VI [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of N-acetylgalactosamine-4-sulfatase (disorder) [SNOMED CT concept]
- Maroteaux Lamy syndrome [Disease (Nov.)]
- Maroteaux-Lamy Syndrome [NCIt concept]
- Maroteaux-Lamy syndrome [MedDRA LLT]
- Maroteaux-Lamy syndrome (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis VI [MedDRA Preferred Term]
- Mucopolysaccharidosis type 6 [ORDO Disease]
- Mucopolysaccharidosis type 6 [ICD-11 Sub-sub category]
- Mucopolysaccharidosis, type VI [OMIM Phenotype]
- maroteaux-lamy syndrome, nos [SNOMED Notion]
- mucopolysaccharidosis VI [DO Concept]

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