OMOP Concept 3655319
Erythropoietic protoporphyria due to ferrochelatase deficiency
StandardConditionSNOMED860859009Disorder
Maps from
0
Descendants
0
Valid from
31 Jul 2020
Valid to
31 Dec 2099
OMOP concepts
Concept Lookup Tool
Search 11M+ concepts across SNOMED, RxNorm, ICD-10 & LOINC.
Synonyms
Alternative names recorded for Erythropoietic protoporphyria due to ferrochelatase deficiency across source vocabularies.
- Erythropoietic protoporphyria due to ferrochelatase deficiency (disorder)
- protoporfiria eritropoyética debida a deficiencia de ferroquelatasa
- protoporfiria eritropoyética debida a deficiencia de ferroquelatasa (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
- 4Fetal and/or neonatal disorder
- 4Genetic disease
- 4Metabolic disease
- 5Disease
- 6Clinical finding
Get this concept via the API
Resolve Erythropoietic protoporphyria due to ferrochelatase deficiency - and every code that maps to it - over HTTPS, against the current vocabulary release. No downloads, no local database.
curl "https://api.omophub.com/v1/concepts/3655319?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card