Mucopolysaccharidosis type 4

ICD-11 code : 5C56.32;

Preferred Label : Mucopolysaccharidosis type 4;

ICD-11 definition : Mucopolysaccharidosis type IV (MPS IV) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterised by spondylo-epiphyso-metaphyseal dysplasia. It exists in twoclinically inditinguishable forms, A and B. A deficiency in one of the two enzymes required for the degradation of keratan sulfate (KS) is responsible for the MPS IV subtypes: N-acetylgalactosamine-6-sulfate sulfatase in MPS IVA, and beta-D-galactosidase in MPS IVB.;

ICD-11 synonym : Galactosamine-6-sulfatase deficiency; Morquio-Brailsford disease; Morquio syndrome;

Détails

Origin ID

2078241550;

UMLS CUI

C0026707;

Automatic exact mappings (from CISMeF team)
- galactosamine (N-acetyl)-6-sulfatase [ORDO Gene]
- galactosamine (N-acetyl)-6-sulfatase [HGNC gene]
- mucopolysaccharidosis IVA [DO Concept]
Currated CISMeF NLP mapping
- Morquio Syndrome [NCIt concept]
- Morquio disease [MedDRA LLT]
- Morquio disease [PASCAL descriptor]
- Morquio syndrome [Radlex concept]
- Morquio syndrome [Disease (Nov.)]
- Morquio syndrome (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis IV [MedDRA Preferred Term]
- Mucopolysaccharidosis type 4 [ORDO Disease]
- morquio syndrome, nos [SNOMED Notion]
- mucopolysaccharidosis IV [MeSH Descriptor]
- mucopolysaccharidosis IV [DO Concept]
- mucopolysaccharidosis IV [MeSH concept]
ICD-10 Mapping
- Other mucopolysaccharidoses [ICD-10 Sub-category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Morquio Syndrome [NCIt concept]
- Morquio disease [MedDRA LLT]
- Morquio syndrome [Disease (Nov.)]
- Morquio syndrome [Radlex concept]
- Morquio syndrome (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis IV [MedDRA Preferred Term]
- Mucopolysaccharidosis type 4 [ORDO Disease]
- morquio syndrome, nos [SNOMED Notion]
- mucopolysaccharidosis IV [DO Concept]
- mucopolysaccharidosis IV [MeSH Descriptor]
- mucopolysaccharidosis IV [MeSH concept]
Validated automatic mappings to BTNT
- Mucopolysaccharidosis IV-A (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis type 4A [ORDO Disease]
- Mucopolysaccharidosis, type iva [OMIM Phenotype]
Validated automatic mappings to NTBT
- Other mucopolysaccharidoses [ICD-10 Sub-category]

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