OMOP Concept 4307744
Sialidosis
StandardConditionSNOMED38795005Disorder
Maps from
2
Descendants
6
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
2 source codes normalize to Sialidosis via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 126524 | Sialidosis | Non-standard |
| Nebraska Lexicon | 38795005 | Cherry-red-spot myoclonus syndrome | Non-standard |
Synonyms
Alternative names recorded for Sialidosis across source vocabularies.
- deficiencia de neuroaminidasa
- mucolipidosis I
- Mucolipidosis I
- Mucolipidosis type I
- Mucolipidosis, type I
- Neuraminidase deficiency
- Neuroaminidase deficiency
- Sialidase deficiency
- sialidosis
- Sialidosis (disorder)
- sialidosis (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(26)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Inherited metabolic disorder of nervous system
- 1Mucolipidosis
- 1Myoclonic disorder
- 1Oligosaccharidosis
- 2Autosomal hereditary disorder
- 2Disorder of glycoprotein metabolism
- 2Disorder of lysosomal enzyme
- 2Disorder of nervous system
- 2Hereditary disorder of nervous system
- 2Inborn error of metabolism
- 2Lysosomal storage disease
- 2Movement disorder
- 3Congenital disease
- 3Disease
- 3Disorder of body system
- 3Enzymopathy
- 3Finding of movement
- 3Hereditary disease
- 3Hereditary disorder by system
- 3Hereditary metabolic disease
- 3Storage disease
- 4Clinical finding
- 4Disorder of fetus and/or newborn
- 4Genetic disease
Narrower concepts
(6)Included automatically when you query with descendants.
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