OMOP Concept 4277436
Fucosidosis
StandardConditionSNOMED64716005Disorder
Maps from
5
Descendants
3
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
5 source codes normalize to Fucosidosis via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 139775 | Fucosidosis | Non-standard |
| HPO | HP_0034728 | Abnormal circulating alpha-L-fucosidase activity | Non-standard |
| MeSH | D005645 | Fucosidosis | Non-standard |
| Read | C31y100 | Fucosidosis | Non-standard |
| Read | C375011 | A-fucosidase deficiency | Non-standard |
Synonyms
Alternative names recorded for Fucosidosis across source vocabularies.
- alpha-L-fucosidase deficiency
- Alpha-L-fucosidase deficiency
- deficiencia de alfa - L - fucosidasa
- deficiencia de fucosidasa
- Fucosidase deficiency
- fucosidosis
- Fucosidosis (disorder)
- fucosidosis (trastorno)
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.
- 1Autosomal recessive hereditary disorder
- 1Oligosaccharidosis
- 2Autosomal hereditary disorder
- 2Disorder of glycoprotein metabolism
- 2Disorder of lysosomal enzyme
- 2Lysosomal storage disease
- 3Congenital disease
- 3Enzymopathy
- 3Hereditary disease
- 3Inborn error of metabolism
- 3Storage disease
- 4Fetal and/or neonatal disorder
- 4Genetic disease
- 4Hereditary metabolic disease
- 4Metabolic disease
- 5Disease
- 6Clinical finding
Narrower concepts
(3)Included automatically when you query with descendants.
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