Hereditary erythropoietic porphyria

Preferred Label : Hereditary erythropoietic porphyria;

Inclusion CIM-10 : Erythropoietic protoporphyria; Congenital erythropoietic porphyria;

Diag associé à un acte (%) : 42.3;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

E800;

UMLS CUI

C0162530;

Automatic exact mappings (from CISMeF team)
- uroporphyrinogen III synthase [ORDO Gene]
- uroporphyrinogen III synthase [HGNC gene]
CISMeF manual mappings
- Congenital porphyria (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Autosomal erythropoietic protoporphyria [ORDO Disease]
- Congenital erythropoietic porphyria [ORDO Disease]
- Congenital erythropoietic porphyria [ICD-11 More detail]
- Congenital erythropoietic porphyria (disorder) [SNOMED CT concept]
- Erythropoietic Porphyria [NCIt concept]
- Erythropoietic Protoporphyria [NCIt concept]
- Erythropoietic porphyria [MedDRA LLT]
- Erythropoietic porphyria [PASCAL descriptor]
- Erythropoietic porphyria (disorder) [SNOMED CT concept]
- Erythropoietic protoporphyria [ICD-11 More detail]
- Erythropoietic protoporphyria [MedDRA LLT]
- Erythropoietic protoporphyria [PASCAL descriptor]
- Erythropoietic protoporphyria (disorder) [SNOMED CT concept]
- Hereditary erythropoietic porphyria [ICD-10 Sub-category (who)]
- Porphyria, congenital erythropoietic [OMIM Phenotype]
- Protoporphyria, erythropoietic [OMIM phenotypic series]
- Protoporphyria, erythropoietic, 1 [OMIM Phenotype]
- congenital erythropoietic porphyria [SNOMED Notion]
- deficiency of uroporphyrinogen III synthase [MeSH concept]
- erythropoietic porphyria [Disease (Nov.)]
- erythropoietic porphyria, nos [SNOMED Notion]
- erythropoietic protoporphyria [SNOMED Notion]
- erythropoietic protoporphyria [DO Concept]
- porphyria, erythropoietic [MeSH concept]
- porphyria, erythropoietic [MeSH Descriptor]
- protoporphyria, erythropoietic [MeSH Descriptor]
- protoporphyria, erythropoietic [MeSH concept]
DO Cross reference
- cutaneous porphyria [DO Concept]
- erythropoietic protoporphyria [DO Concept]
Excluded by
- Other congenital malformations of skin [ICD-10 category]
Metaterm(s)
- genetics [CISMeF Metaterm]
Orphanet concepts
- Autosomal erythropoietic protoporphyria [ORDO Disease]
- Congenital erythropoietic porphyria [ORDO Disease]
- Disorder of porphyrin and heme metabolism [ORDO Disease]
- Isolated agammaglobulinemia [ORDO Disease]
- Porphyria [ORDO Disease]
- X-linked erythropoietic protoporphyria [ORDO Disease]
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 [NCIt concept]
- Erythropoietic porphyria [MedDRA LLT]
- Erythropoietic porphyria [PASCAL descriptor]
- Erythropoietic porphyria (disorder) [SNOMED CT concept]
- Erythropoietic porphyrias [ICD-11 Sub-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]

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