Mucopolysaccharidosis type 6

ICD-11 code : 5C56.33;

Preferred Label : Mucopolysaccharidosis type 6;

ICD-11 definition : Mucopolysaccharidosis type 6 (MPS VI) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate.The disorder shows a wide spectrum of symptoms from slowly to rapidly progressing forms.;

ICD-11 synonym : ARSB deficiency; Arylsulfatase B deficiency; ARSB - [Arylsulfatase B] deficiency; Maroteaux-Lamy syndrome; N-acetylgalactosamine 4-sulfatase deficiency;

Details

Origin ID

1288379621;

UMLS CUI

C0026709;

Automatic exact mappings (from CISMeF team)
- N-Acetylgalactosamine-4-Sulfatase [LOINC component]
- N-Acetylgalactosamine-4-Sulfatase [MeSH 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 [ORDO Disease]
- Mucopolysaccharidosis, type VI [OMIM Phenotype]
- maroteaux-lamy syndrome, nos [SNOMED Notion]
- mucopolysaccharidosis VI [MeSH concept]
- mucopolysaccharidosis VI [MeSH Descriptor]
- mucopolysaccharidosis VI [DO Concept]
ICD-10 Mapping
- Other mucopolysaccharidoses [ICD-10 Sub-category]
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 VI [OMIM Phenotype]
- maroteaux-lamy syndrome, nos [SNOMED Notion]
- mucopolysaccharidosis VI [DO Concept]
- mucopolysaccharidosis VI [MeSH Descriptor]
- mucopolysaccharidosis VI [MeSH concept]
Validated automatic mappings to NTBT
- Mucopolysaccharidosis (disorder) [SNOMED CT concept]
- Other mucopolysaccharidoses [ICD-10 Sub-category]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients