Erythropoietic protoporphyria

Preferred Label : Erythropoietic protoporphyria;

ICD-11 definition : Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.;

ICD-11 synonym : Ferrochelatase deficiency; EPP - [erythropoietic protoporphyria]; Heme synthetase deficiency;

ICD-11 acronym : EPP;

Details

Origin ID

1642941362;

Automatic exact mappings (from CISMeF team)
- Acute multifocal placoid pigment epitheliopathy (disorder) [SNOMED CT concept]
- Hand-Foot syndrome [MeSH Descriptor]
- blood protein electrophoresis [MeSH Descriptor]
Currated CISMeF NLP mapping
- Autosomal erythropoietic protoporphyria [ORDO Disease]
- Erythropoietic Protoporphyria [NCIt concept]
- Erythropoietic protoporphyria [MedDRA LLT]
- Erythropoietic protoporphyria [PASCAL descriptor]
- Erythropoietic protoporphyria (disorder) [SNOMED CT concept]
- Hereditary erythropoietic porphyria [ICD-10 Sub-category]
- Protoporphyria, erythropoietic [OMIM phenotypic series]
- Protoporphyria, erythropoietic, 1 [OMIM Phenotype]
- erythropoietic protoporphyria [SNOMED Notion]
- erythropoietic protoporphyria [DO Concept]
- protoporphyria, erythropoietic [MeSH Descriptor]
- protoporphyria, erythropoietic [MeSH concept]
Validated automatic mappings to BTNT
- Ferrochelatase deficiency (disorder) [SNOMED CT concept]
- ferrochelatase deficiency [MeSH concept]

Keyword's position in hierarchy(ies) :

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