Erythropoietic protoporphyria due to ferrochelatase deficiency

Preferred Label : Erythropoietic protoporphyria due to ferrochelatase deficiency;

ICD-11 synonym : FECH-deficient EPP; EPP due to ferrochelatase deficiency;

Details

Origin ID

1842121166;

UMLS CUI

C0349426;

CISMeF manual mappings
- Ferrochelatase deficiency (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Erythropoietic protoporphyria due to ferrochelatase deficiency (disorder) [SNOMED CT concept]
- ferrochelatase deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ferrochelatase deficiency (disorder) [SNOMED CT concept]
- ferrochelatase deficiency [MeSH concept]

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