Erythropoietic Protoporphyria

Preferred Label : Erythropoietic Protoporphyria;

NCIt synonyms : Protoporphyria, Erythropoietic; EPP;

CISMeF acronym : EPP;

NCIt definition : A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. It is caused by deficiency of the enzyme ferrochelatase. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly.;

Details

Origin ID

C84698;

UMLS CUI

C0162568;

Currated CISMeF NLP mapping
- Autosomal erythropoietic protoporphyria [ORDO Disease]
- Erythropoietic protoporphyria [PASCAL descriptor]
- Erythropoietic protoporphyria [ICD-11 More detail]
- Erythropoietic protoporphyria [MedDRA LLT]
- Erythropoietic protoporphyria (disorder) [SNOMED CT concept]
- Hereditary erythropoietic porphyria [ICD-10 Sub-category (who)]
- Hereditary erythropoietic porphyria [ICD-10 Sub-category]
- Protoporphyria, erythropoietic [OMIM phenotypic series]
- Protoporphyria, erythropoietic, 1 [OMIM Phenotype]
- erythropoietic protoporphyria [DO Concept]
- erythropoietic protoporphyria [Disease (Nov.)]
- erythropoietic protoporphyria [SNOMED Notion]
- protoporphyria, erythropoietic [MeSH Descriptor]
- protoporphyria, erythropoietic [MeSH concept]
DO Cross reference
- erythropoietic protoporphyria [DO Concept]
False automatic mappings
- Epilepsy, partial, with pericentral spikes [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal erythropoietic protoporphyria [ORDO Disease]
- Erythropoietic protoporphyria [MedDRA LLT]
- Erythropoietic protoporphyria [PASCAL descriptor]
- Erythropoietic protoporphyria (disorder) [SNOMED CT concept]
- Protoporphyria, erythropoietic, 1 [OMIM Phenotype]
- erythropoietic protoporphyria [DO Concept]
- erythropoietic protoporphyria [Disease (Nov.)]
- erythropoietic protoporphyria [SNOMED Notion]
- protoporphyria, erythropoietic [MeSH Descriptor]
- protoporphyria, erythropoietic [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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