OMOP Concept 4079880
Homozygous erythropoietic protoporphyria
StandardConditionSNOMED238053006Disorder
Maps from
1
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
1 source code normalizes to Homozygous erythropoietic protoporphyria via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| Nebraska Lexicon | 238053006 | Homozygous erythropoietic protoporphyria | Non-standard |
Synonyms
Alternative names recorded for Homozygous erythropoietic protoporphyria across source vocabularies.
- Homozygous erythropoietic protoporphyria (disorder)
- protoporfiria eritropoyética homocigota
- protoporfiria eritropoyética homocigota (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(17)Roll up to these when you need a wider cohort.
- 1Erythropoietic protoporphyria
- 2Autosomal hereditary disorder
- 2Congenital porphyria
- 2Ferrochelatase deficiency
- 2Inborn error of metabolism
- 3Congenital disease
- 3Disorder of porphyrin metabolism
- 3Enzymopathy
- 3Hereditary disease
- 3Hereditary metabolic disease
- 3Inherited disorder of porphyrin metabolism
- 3Porphyria
- 4Disorder of fetus and/or newborn
- 4Genetic disease
- 4Metabolic disease
- 5Disease
- 6Clinical finding
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