Hepatoerythropoietic Porphyria

Preferred Label : Hepatoerythropoietic Porphyria;

NCIt definition : A very rare form of porphyria cutanea tarda. It is characterized by deficiency of the enzyme uroporphyrinogen decarboxylase. Signs and symptoms appear early in childhood and include extreme photosensitivity in the sun exposed areas of the skin with blistering and scar formation.;

Details

Origin ID

C84754;

UMLS CUI

C0162569;

Automatic exact mappings (from CISMeF team)
- Porphyria cutanea tarda [OMIM Phenotype]
Currated CISMeF NLP mapping
- Hepatoerythropoietic porphyria [ICD-11 More detail]
- 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]
DO Cross reference
- hepatoerythropoietic porphyria [DO Concept]
Has associated anatomic sites
- Integumentary System [NCIt concept]
See also inter- (CISMeF)
- homozygous porphyria cutanea tarda [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hepatoerythropoietic porphyria [ORDO Disease]
- Hepatoerythropoietic porphyria [ICD-11 More detail]
- 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 concept]
- porphyria, hepatoerythropoietic [MeSH Descriptor]
associated_with_malfunction_of_gene_product
- Glutamate Decarboxylase 1 [NCIt concept]
- Glutamate Decarboxylase 2 [NCIt concept]
- Uroporphyrinogen Decarboxylase [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_associated_gene
- UROD Gene [NCIt concept]
- UROD wt Allele [NCIt concept]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
- Rare Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Skin [NCIt concept]
disease_mapped_to_gene
- HFE Gene [NCIt concept]
- UROD Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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