Hepatoerythropoietic porphyria

Preferred Label : Hepatoerythropoietic porphyria;

ICD-11 definition : Hepatoerythropioetic porphria (HEP) is a very rare form of chronic hepatic porphyria characterized by bullous photodermatitis.;

ICD-11 synonym : HEP - [Hepatoerythropoietic porphyria]; Homozygous uroporphyrinogen decarboxylase deficiency; Homozygous porphyria cutanea tarda;

ICD-11 acronym : HEP;

Détails

Origin ID

214080046;

UMLS CUI

C0162569;

Automatic exact mappings (from CISMeF team)
- Ephrin Type-B Receptor 6 [NCIt concept]
- Ephrin receptor ephb6 [OMIM gene]
- HPSE wt Allele [NCIt concept]
- Porphyria cutanea tarda [OMIM Phenotype]
Currated CISMeF NLP mapping
- Hepatoerythropoietic Porphyria [NCIt concept]
- Hepatoerythropoietic porphyria [ORDO Disease]
- Homozygous porphyria cutanea tarda (disorder) [SNOMED CT concept]
- hepatoerythropoietic porphyria [DO Concept]
- homozygous porphyria cutanea tarda [SNOMED Notion]
- homozygous porphyria cutanea tarda [Disease (Nov.)]
- porphyria, hepatoerythropoietic [MeSH Descriptor]
- porphyria, hepatoerythropoietic [MeSH concept]
False automatic mappings
- HEP (body structure) [SNOMED CT concept]
- Histamine Equivalent Prick Unit [NCIt concept]
See also inter- (CISMeF)
- EPHB6 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hepatoerythropoietic Porphyria [NCIt concept]
- Hepatoerythropoietic porphyria [ORDO Disease]
- Homozygous porphyria cutanea tarda (disorder) [SNOMED CT concept]
- hepatoerythropoietic porphyria [DO Concept]
- homozygous porphyria cutanea tarda [Disease (Nov.)]
- homozygous porphyria cutanea tarda [SNOMED Notion]
- porphyria, hepatoerythropoietic [MeSH Descriptor]
- porphyria, hepatoerythropoietic [MeSH concept]

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