Maroteaux-Lamy Syndrome

Preferred Label : Maroteaux-Lamy Syndrome;

NCIt synonyms : Mucopolysaccharidosis VI; Mucopolysaccharidosis Type VI;

NCIt definition : A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylgalactosamine-4-sulfatase. It is characterized by organomegaly, short stature, joint stiffness, otitis media, and respiratory illnesses.;

Details

Origin ID

C61264;

UMLS CUI

C0026709;

Automatic exact mappings (from CISMeF team)
- Diastrophic dysplasia [PASCAL descriptor]
CISMeF manual mappings
- Deficiency of N-acetylgalactosamine-4-sulfatase (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Maroteaux Lamy syndrome [Disease (Nov.)]
- 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]
- mucopolysaccharidosis VI [MeSH Descriptor]
- mucopolysaccharidosis VI [MeSH concept]
DO Cross reference
- mucopolysaccharidosis VI [DO 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 [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]
- mucopolysaccharidosis VI [MeSH concept]
- mucopolysaccharidosis VI [MeSH Descriptor]
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]

Keyword's position in hierarchy(ies) :

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