OMOP Concept 4279153
Sitosterolemia with xanthomatosis
StandardConditionSNOMED65419005Disorder
Maps from
2
Descendants
0
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 Sitosterolemia with xanthomatosis via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 126419 | Sitosterolemia with Xanthomatosis | Non-standard |
| Nebraska Lexicon | 65419005 | Sitosterolaemia with xanthomatosis | Non-standard |
Synonyms
Alternative names recorded for Sitosterolemia with xanthomatosis across source vocabularies.
- Beta-sitosterolaemia
- beta-Sitosterolemia
- Sitosterolaemia with xanthomatosis
- Sitosterolaemic xanthomatosis
- sitosterolemia beta
- sitosterolemia con xantomatosis
- sitosterolemia con xantomatosis (trastorno)
- Sitosterolemia with xanthomatosis (disorder)
- Sitosterolemic xanthomatosis
- xantomatosis sitosteromélica
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(19)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Familial disease with storage of sterols (other than cholesterol)
- 1Sitosterolemia
- 1Xanthomatosis
- 2Autosomal hereditary disorder
- 2Degenerative disorder
- 2Disorder of lipoprotein storage and metabolism
- 2Familial disease
- 2Storage disease
- 3Disease
- 3Disorder of lipoprotein AND/OR lipid metabolism
- 3Hereditary disease
- 3Inborn error of metabolism
- 4Clinical finding
- 4Congenital disease
- 4Genetic disease
- 4Hereditary metabolic disease
- 4Metabolic disease
- 5Disorder of fetus and/or newborn
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