OMOP Concept 4097554
Mucopolysaccharidosis, MPS-I-H/S
StandardConditionSNOMED26745009Disorder
Maps from
3
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
3 source codes normalize to Mucopolysaccharidosis, MPS-I-H/S via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 133813 | Mucopolysaccharidosis, MPS-I-H/S | Non-standard |
| ICD10CM | E76.02 | Hurler-Scheie syndrome | Non-standard |
| Nebraska Lexicon | 26745009 | Mucopolysaccharidosis type I-H/S | Non-standard |
Synonyms
Alternative names recorded for Mucopolysaccharidosis, MPS-I-H/S across source vocabularies.
- deficiencia de L - iduronidasa, tipo Hurler - Scheie
- Hurler-Scheie disease MPS type 1H/S
- Hurler-Scheie syndrome
- L-iduronidase deficiency, Hurler-Scheie type
- mucopolisacaridosis, MPS - I - H/S
- mucopolisacaridosis, MPS - I - H/S (trastorno)
- Mucopolysaccharidosis type I-H/S
- Mucopolysaccharidosis type I-H/S (disorder)
- síndrome de Hurler - Scheie
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(17)Roll up to these when you need a wider cohort.
- 1Mucopolysaccharidosis, MPS-I
- 2Autosomal recessive hereditary disorder
- 2Mucopolysaccharidosis
- 3Autosomal hereditary disorder
- 3Disorder of lysosomal enzyme
- 3Lysosomal storage disease
- 4Congenital disease
- 4Enzymopathy
- 4Hereditary disease
- 4Storage disease
- 5Disorder of fetus and/or newborn
- 5Genetic disease
- 5Inborn error of metabolism
- 5Metabolic disease
- 6Disease
- 6Hereditary metabolic disease
- 7Clinical finding
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