OMOP Concept 4287262
Maroteaux-Lamy syndrome
StandardConditionSNOMED69463008Disorder
Maps from
6
Descendants
3
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
6 source codes normalize to Maroteaux-Lamy syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 134658 | Arylsulphatase B deficiency | Non-standard |
| MeSH | D009087 | Mucopolysaccharidosis VI | Non-standard |
| Nebraska Lexicon | 69463008 | Polydystrophic dwarfism | Non-standard |
| Read | C375.15 | Maroteaux - Lamy syndrome | Non-standard |
| Read | C375600 | Mucopolysaccharidosis, type VI | Non-standard |
| Read | C375611 | Maroteaux - Lamy syndrome | Non-standard |
Synonyms
Alternative names recorded for Maroteaux-Lamy syndrome across source vocabularies.
- ARSB - Arylsulfatase B deficiency
- ARSB - Arylsulphatase B deficiency
- ARSB deficiency
- Arylsulfatase B deficiency
- Arylsulphatase B deficiency
- deficiencia de arilsulfatasa B
- deficiencia de ARSB
- enanismo polidistrófico
- Maroteaux-Lamy disease
- Maroteaux-Lamy syndrome (disorder)
- MPS VI - Mucopolysaccharidosis VI
- mucopolisacaridosis, MPS - VI
- Mucopolysaccharidosis chondroitin sulfate B
- Mucopolysaccharidosis chondroitin sulphate B
- Mucopolysaccharidosis, MPS-VI
- Mucopolysaccharidosis type VI
- N-acetylgalactosamine-4-sulfatase deficiency
- N-acetylgalactosamine-4-sulphatase deficiency
- Polydystrophic dwarfism
- síndrome de Maroteaux - Lamy
- síndrome de Maroteaux - Lamy (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(31)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Deficiency of N-acetylgalactosamine-4-sulfatase
- 1Developmental hereditary disorder
- 1Mucopolysaccharidosis
- 1Short stature disorder
- 2Autosomal hereditary disorder
- 2Deficiency of cerebroside-sulfatase
- 2Developmental disorder
- 2Disorder of lysosomal enzyme
- 2Disorder of stature
- 2Hereditary disease
- 2Lysosomal storage disease
- 3Congenital disease
- 3Disease
- 3Enzymopathy
- 3Finding of general physiological development
- 3General finding of height
- 3Genetic disease
- 3Inherited metabolic disorder of nervous system
- 3Storage disease
- 4Clinical finding
- 4Disorder of fetus and/or newborn
- 4Height / growth finding
- 4Hereditary disorder of nervous system
- 4Inborn error of metabolism
Narrower concepts
(3)Included automatically when you query with descendants.
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