OMOP Concept 435813
Infantile Refsum's disease
StandardConditionSNOMED238062008Disorder
Maps from
2
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
2 source codes normalize to Infantile Refsum's disease via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | D052919 | Refsum Disease, Infantile | Non-standard |
| Nebraska Lexicon | 238062008 | Infantile Refsum disease | Non-standard |
Synonyms
Alternative names recorded for Infantile Refsum's disease across source vocabularies.
- enfermedad infantil de Refsum
- enfermedad infantil de Refsum (trastorno)
- Infantile Refsum disease
- Infantile Refsum's disease (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(13)Roll up to these when you need a wider cohort.
- 1Peroxisome biogenesis disorder
- 2Autosomal recessive hereditary disorder
- 2Disorder of peroxisomal function
- 3Autosomal hereditary disorder
- 3Inborn error of metabolism
- 4Congenital disease
- 4Hereditary disease
- 4Hereditary metabolic disease
- 5Disorder of fetus and/or newborn
- 5Genetic disease
- 5Metabolic disease
- 6Disease
- 7Clinical finding
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