Uroporphyrinogen decarboxylase deficiency

disorder

SNOMED 276262000CUI C0342861

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 hepatocellular carcinoma risk

HP:0001402

Oncholysis

HP:0001806

Reduced uroporphyrinogen decarboxylase activity

HP:0034715

Scleroderma

HP:0100324

Related Conditions

Porphyria cutanea tarda(child)

Disorder of porphyrin metabolism(parent)

Quick Facts

SNOMED CT: 276262000
UMLS CUI: C0342861
Fully Specified Name: Uroporphyrinogen decarboxylase deficiency (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.