OMOP Concept 36676512
Contiguous ABCD1 DXS1357E deletion syndrome
StandardConditionSNOMED773415005Disorder
Maps from
1
Descendants
0
Valid from
31 Jan 2019
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Contiguous ABCD1 DXS1357E deletion syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C564508 | Contiguous Abcd1-Dxs1375e Deletion Syndrome | Non-standard |
Synonyms
Alternative names recorded for Contiguous ABCD1 DXS1357E deletion syndrome across source vocabularies.
- CADDS - contiguous ABCD1 DXS1357E deletion syndrome
- Contiguous ABCD1 DXS1357E deletion syndrome (disorder)
- síndrome de deleción contigua ABCD1 DXS1357E
- síndrome de deleción contigua ABCD1 DXS1357E (trastorno)
- Zellweger-like contiguous gene deletion syndrome
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(39)Roll up to these when you need a wider cohort.
- 1Digestive system hereditary disorder
- 1Disorder of digestive system specific to fetus OR newborn
- 1Inherited metabolic disorder of nervous system
- 1Loss of single peroxisomal function
- 1Metabolic and genetic disorder affecting the liver
- 1X-linked recessive hereditary disease
- 2Disease of liver
- 2Disorder of digestive system
- 2Disorder of peroxisomal function
- 2Fetal and/or neonatal disorder
- 2Hereditary disorder by system
- 2Hereditary disorder of nervous system
- 2Inborn error of metabolism
- 2Metabolic disease
- 2X-linked hereditary disease
- 3Congenital disease
- 3Digestive system finding
- 3Disease
- 3Disorder of body system
- 3Disorder of liver and/or biliary tract
- 3Disorder of nervous system
- 3Hereditary disease
- 3Hereditary metabolic disease
- 3Liver finding
- 3OMOP Acute Liver Failure 1
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