Other and unspecified porphyria

Preferred Label : Other and unspecified porphyria;

Diag associé à un acte (%) : 64.1;

Source : OMS;

Date de début : 01/01/1997;

Origin ID

E802;

UMLS CUI

C2874294;

CISMeF manual mappings
- Hereditary coproporphyria [ORDO Disease]
Currated CISMeF NLP mapping
- Coproporphyria, hereditary [OMIM Phenotype]
- Hereditary Coproporphyria [NCIt concept]
- Hereditary coproporphyria [MedDRA LLT]
- coproporphyria, hereditary [MeSH concept]
- coproporphyria, hereditary [MeSH Descriptor]
- hereditary coproporphyria [SNOMED Notion]
Orphanet concepts
- Acute hepatic porphyria [ORDO Disease]
- Acute intermittent porphyria [ORDO Disease]
- Chronic hepatic porphyria [ORDO Disease]
- Disorder of porphyrin and heme metabolism [ORDO Disease]
- Erythropoietic uroporphyria associated with myeloid malignancy [ORDO Disease]
- Hepatoerythropoietic porphyria [ORDO Disease]
- Hereditary coproporphyria [ORDO Disease]
- Porphyria [ORDO Disease]
- Porphyria due to ALA dehydratase deficiency [ORDO Disease]
- Porphyria variegata [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to BTNT
- Chronic hepatic porphyria [ORDO Disease]
- hereditary coproporphyria [Disease (Nov.)]