Porphyria Cutanea Tarda

Preferred Label : Porphyria Cutanea Tarda;

NCIt definition : A cutaneous form of the genetic photosensitive disease, porphyria, that is characterized by onset in adult life and the presence of scarring bullae, hyperpigmentation, facial hypertrichosis, and sometimes sclerodermatous thickenings and alopecia. Uroporphyrins are found in the urine due to a deficiency of uroporphyrinogen decarboxylase, an enzyme required for the synthesis of heme.;

Details

Origin ID

C27725;

UMLS CUI

C0162566;

DO Cross reference
- porphyria cutanea tarda [DO Concept]
Has associated anatomic sites
- Integumentary System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cutaneous hepatic porphyria [MedDRA LLT]
- Porphyria cutanea tarda [ORDO Disease]
- Porphyria cutanea tarda [ICD-10 Sub-category]
- Porphyria cutanea tarda [OMIM Phenotype]
- Porphyria cutanea tarda [PASCAL descriptor]
- Porphyria cutanea tarda [ICD-11 Sub-sub category]
- Porphyria cutanea tarda [ICD-10 Sub-category (who)]
- Porphyria cutanea tarda [MedDRA LLT]
- Porphyria cutanea tarda (disorder) [SNOMED CT concept]
- porphyria cutanea tarda [DO Concept]
- porphyria cutanea tarda [Disease (Nov.)]
- porphyria cutanea tarda [MeSH concept]
- porphyria cutanea tarda [MeSH Descriptor]
- porphyria cutanea tarda, nos [SNOMED Notion]
associated_with_malfunction_of_gene_product
- 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]
related_to_genetic_biomarker
- HFE Gene [NCIt concept]
- UROD Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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