OMOP Concept 608071
Gaucher disease with ophthalmoplegia and cardiovascular calcification
StandardConditionSNOMED1156813002Disorder
Maps from
1
Descendants
0
Valid from
31 Jul 2021
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Gaucher disease with ophthalmoplegia and cardiovascular calcification via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C537675 | Gaucher-like disease | Non-standard |
Synonyms
Alternative names recorded for Gaucher disease with ophthalmoplegia and cardiovascular calcification across source vocabularies.
- Cardiovascular Gaucher disease
- enfermedad de Gaucher con oftalmoplejía y calcificación cardiovascular
- enfermedad de Gaucher con oftalmoplejía y calcificación cardiovascular (trastorno)
- Gaucher disease with ophthalmoplegia and cardiovascular calcification (disorder)
- Gaucher-like disease
- Gaucher's disease type 3C
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(24)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Subacute neuronopathic Gaucher's disease
- 2Autosomal hereditary disorder
- 2Gaucher's disease
- 2Inherited metabolic disorder of nervous system
- 3Hereditary disease
- 3Hereditary disorder of nervous system
- 3Inborn error of metabolism
- 3Sphingolipidosis
- 4Congenital disease
- 4Disorder of lipid storage and metabolism
- 4Disorder of nervous system
- 4Genetic disease
- 4Hereditary disorder by system
- 4Hereditary metabolic disease
- 4Lysosomal storage disease
- 5Disease
- 5Disorder of body system
- 5Disorder of fetus and/or newborn
- 5Disorder of lipoprotein AND/OR lipid metabolism
- 5Enzymopathy
- 5Metabolic disease
- 5Storage disease
- 6Clinical finding
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