OMOP Concept 4177022
Erythropoietic protoporphyria
StandardConditionSNOMED51022005Disorder
Maps from
4
Descendants
4
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
4 source codes normalize to Erythropoietic protoporphyria via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 141010 | Erythropoietic protoporphyria | Non-standard |
| MeSH | D046351 | Protoporphyria, Erythropoietic | Non-standard |
| Nebraska Lexicon | 51022005 | Erythrohepatic protoporphyria | Non-standard |
| Read | C371100 | Erythropoietic protoporphyria | Non-standard |
Synonyms
Alternative names recorded for Erythropoietic protoporphyria across source vocabularies.
- deficiencia de hemosintetasa
- EPP - erythropoietic protoporphyria
- Erythrohepatic protoporphyria
- Erythropoietic protoporphyria (disorder)
- Haem synthase deficiency
- Heme synthase deficiency
- Magnus syndrome
- PPE - protoporfiria eritropoyética
- protoporfiria eritrohepática
- protoporfiria eritropoyética
- protoporfiria eritropoyética (trastorno)
- Protoporphyria
- síndrome de Magnus
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(16)Roll up to these when you need a wider cohort.
- 1Autosomal hereditary disorder
- 1Congenital porphyria
- 1Ferrochelatase deficiency
- 1Inborn error of metabolism
- 2Congenital disease
- 2Disorder of porphyrin metabolism
- 2Enzymopathy
- 2Hereditary disease
- 2Hereditary metabolic disease
- 2Inherited disorder of porphyrin metabolism
- 2Porphyria
- 3Disorder of fetus and/or newborn
- 3Genetic disease
- 3Metabolic disease
- 4Disease
- 5Clinical finding
Narrower concepts
(4)Included automatically when you query with descendants.
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