Erythropoietic porphyrias

ICD-11 code : 5C58.12;

Preferred Label : Erythropoietic porphyrias;

ICD-11 definition : Erythropoietic porphyrias are associated clinically with photosensitivity and biochemically with abnormal accumulation of porphyrins in erythrocytes. They include erythropoietic protoporphyria and the very rare congenital erythropoietic porphyria.;

Details

Origin ID

1074667008;

UMLS CUI

C0162530;

Automatic exact mappings (from CISMeF team)
- cutaneous porphyria [DO Concept]
Currated CISMeF NLP mapping
- Congenital erythropoietic porphyria (disorder) [SNOMED CT concept]
- Erythropoietic Porphyria [NCIt concept]
- Erythropoietic porphyria [MedDRA LLT]
- Erythropoietic porphyria [PASCAL descriptor]
- Erythropoietic porphyria (disorder) [SNOMED CT concept]
- porphyria, erythropoietic [MeSH Descriptor]
- porphyria, erythropoietic [MeSH concept]
ICD-10 Mapping
- Hereditary erythropoietic porphyria [ICD-10 Sub-category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital erythropoietic porphyria [ORDO Disease]
- Congenital erythropoietic porphyria (disorder) [SNOMED CT concept]
- Congenital porphyria (disorder) [SNOMED CT concept]
- Erythropoietic Porphyria [NCIt concept]
- Erythropoietic porphyria [MedDRA LLT]
- Erythropoietic porphyria [PASCAL descriptor]
- Erythropoietic porphyria (disorder) [SNOMED CT concept]
- Hereditary erythropoietic porphyria [ICD-10 Sub-category]
- Porphyria, congenital erythropoietic [OMIM Phenotype]
- congenital erythropoietic porphyria [SNOMED Notion]
- cutaneous porphyria [DO Concept]
- erythropoietic porphyria [Disease (Nov.)]
- erythropoietic porphyria, nos [SNOMED Notion]
- porphyria, erythropoietic [MeSH Descriptor]
- porphyria, erythropoietic [MeSH concept]

Keyword's position in hierarchy(ies) :

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