Congenital erythropoietic porphyria

Preferred Label : Congenital erythropoietic porphyria;

ICD-11 definition : Congenital erythropoietic porphyria, or Günther disease, is a rare autosomal recessive disorder due to mutations in the gene encoding uroporphyrinogen III synthase. This results in the accumulation of abnormal porphyrins in erythrocytes and manifests as very severe and mutilating photosensitivity.;

ICD-11 synonym : Hereditary erythropoietic porphyria; Uroporphyrinogen III synthase deficiency; Günther disease;

Details

Origin ID

1935084712;

UMLS CUI

C0162530;

Automatic exact mappings (from CISMeF team)
- uroporphyrinogen III synthase [HGNC gene]
Currated CISMeF NLP mapping
- Congenital erythropoietic porphyria [ORDO Disease]
- Congenital erythropoietic porphyria (disorder) [SNOMED CT concept]
- 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]
- deficiency of uroporphyrinogen III synthase [MeSH concept]
See also inter- (CISMeF)
- uroporphyrinogen III synthase [ORDO Gene]
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]
Validated automatic mappings to NTBT
- Congenital porphyria (disorder) [SNOMED CT concept]
- Erythropoietic Porphyria [NCIt concept]
- Erythropoietic porphyria [MedDRA LLT]
- Erythropoietic porphyria [PASCAL descriptor]
- Erythropoietic porphyria (disorder) [SNOMED CT 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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