Familial porphyria cutanea tarda

disorder

SNOMED 59229005CUI C0268323

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Cutaneous photosensitivity

Always present (100%)HP:0000992

Porphyrinuria

Always present (100%)HP:0010473

Cirrhosis

HP:0001394

Fragile skin

HP:0001030

Hair loss

HP:0001596

Hyperpigmentation in sun-exposed areas

HP:0005586

Increased facial hair growth

HP:0002219

Increased incidence of hepatocellular carcinoma

HP:0001402

Oncholysis

HP:0001806

Pseudoscleroderma

HP:0100324

Reduced uroporphyrinogen decarboxylase activity

HP:0034715

Related Conditions

Porphyria cutanea tarda(parent)

Familial disease(parent)

Autosomal dominant hereditary disorder(parent)

Digestive system hereditary disorder(parent)

Hereditary disorder of the integument(parent)

Quick Facts

SNOMED CT: 59229005
UMLS CUI: C0268323
Fully Specified Name: Familial porphyria cutanea tarda (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 11

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.