OMOP Concept 4268608
Cholestanol storage disease
StandardConditionSNOMED63246000Disorder
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 Cholestanol storage disease via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 145619 | Cholestanol storage disease | Non-standard |
| MeSH | D019294 | Xanthomatosis, Cerebrotendinous | Non-standard |
Synonyms
Alternative names recorded for Cholestanol storage disease across source vocabularies.
- Cerebral cholesterinosis
- Cerebrotendinous cholesterinosis
- Cerebrotendinous xanthomatosis
- Cholestanolosis
- Cholestanol storage disease (disorder)
- colesterinosis cerebral
- CTX - Cerebrotendinous xanthomatosis
- enfermedad por almacenamiento de colestanol
- enfermedad por almacenamiento de colestanol (trastorno)
- síndrome de van Bogaert - Scherer - Epstein
- Van Bogaert-Scherer-Epstein disease
- van Bogaert-Scherer-Epstein syndrome
- xantomatosis cerebrotendinosa
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(51)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Disorder of cholesterol catabolism
- 1Hereditary degenerative disease of central nervous system
- 1Inherited metabolic disorder of nervous system
- 1Leukodystrophy
- 1Synthetic defect of bile acids
- 1Xanthomatosis
- 2Autosomal hereditary disorder
- 2Degenerative disease of the central nervous system
- 2Degenerative disorder
- 2Digestive system hereditary disorder
- 2Disorder of cholesterol metabolism
- 2Disorder of digestive system specific to fetus OR newborn
- 2Disorder of lipid metabolism
- 2Disorder of lipid storage and metabolism
- 2Hereditary disorder of nervous system
- 2Inborn error of metabolism
- 2Metabolic and genetic disorder affecting the liver
- 2Neurological lesion
- 2Neuropathy
- 3Clinical finding
- 3Congenital disease
- 3Disease
- 3Disease of liver
- 3Disorder of digestive system
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