OMOP Concept 37162741
X-linked dominant erythropoietic protoporphyria
StandardConditionSNOMED1197360001Disorder
Maps from
1
Descendants
0
Valid from
28 Feb 2022
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
1 source code normalizes to X-linked dominant erythropoietic protoporphyria via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C567464 | Protoporphyria, Erythropoietic, X-Linked Dominant | Non-standard |
Synonyms
Alternative names recorded for X-linked dominant erythropoietic protoporphyria across source vocabularies.
- protoporfiria eritropoyética ligada al cromosoma X
- protoporfiria eritropoyética ligada al cromosoma X (trastorno)
- X-linked dominant erythropoietic protoporphyria (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(20)Roll up to these when you need a wider cohort.
- 1Erythropoietic protoporphyria
- 1X-linked dominant hereditary disease
- 2Autosomal hereditary disorder
- 2Congenital porphyria
- 2Ferrochelatase deficiency
- 2Inborn error of metabolism
- 2X-linked hereditary disease
- 3Congenital disease
- 3Disorder of porphyrin metabolism
- 3Enzymopathy
- 3Hereditary disease
- 3Hereditary metabolic disease
- 3Inherited disorder of porphyrin metabolism
- 3Porphyria
- 3Sex-linked hereditary disorder
- 4Fetal and/or neonatal disorder
- 4Genetic disease
- 4Metabolic disease
- 5Disease
- 6Clinical finding
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