Erythropoietic Porphyria

Preferred Label : Erythropoietic Porphyria;

NCIt synonyms : CEP;

CISMeF acronym : CEP;

NCIt definition : A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. It is caused by deficiency of the enzyme uroporphyrinogen III cosynthetase. It results in cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas.;

Details

Origin ID

C84697;

UMLS CUI

C5886774;

CISMeF manual mappings
- Congenital porphyria (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Congenital erythropoietic porphyria [ORDO Disease]
- Erythropoietic porphyria [PASCAL descriptor]
- Erythropoietic porphyria [MedDRA LLT]
- Erythropoietic porphyria (disorder) [SNOMED CT concept]
- Erythropoietic porphyrias [ICD-11 Sub-sub category]
- Hereditary erythropoietic porphyria [ICD-10 Sub-category]
- Porphyria, congenital erythropoietic [OMIM Phenotype]
- erythropoietic porphyria [Disease (Nov.)]
- erythropoietic porphyria, nos [SNOMED Notion]
- porphyria, erythropoietic [MeSH Descriptor]
- porphyria, erythropoietic [MeSH concept]
DO Cross reference
- cutaneous porphyria [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital erythropoietic porphyria [ORDO Disease]
- Congenital erythropoietic porphyria [ICD-11 More detail]
- Congenital erythropoietic porphyria (disorder) [SNOMED CT concept]
- Congenital porphyria (disorder) [SNOMED CT concept]
- Erythropoietic porphyria [MedDRA LLT]
- Erythropoietic porphyria [PASCAL descriptor]
- Erythropoietic porphyria (disorder) [SNOMED CT concept]
- Erythropoietic porphyrias [ICD-11 Sub-sub category]
- Hereditary erythropoietic porphyria [ICD-10 Sub-category]
- Hereditary erythropoietic porphyria [ICD-10 Sub-category (who)]
- 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 concept]
- porphyria, erythropoietic [MeSH Descriptor]
Validated automatic mappings to BTNT
- Congenital erythropoietic porphyria [ICD-11 More detail]
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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