X-linked dominant erythropoietic protoporphyria

disorder

SNOMED 1197360001CUI C2677889

Overview

X-linked dominant erythropoietic protoporphyria is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

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

Abnormal liver enzymes

Occasional (5-29%)HP:0002910

Gallstones

Occasional (5-29%)HP:0001081

Iron-deficiency anaemia

Occasional (5-29%)HP:0001891

Cutaneous photosensitivity

HP:0000992

Increased erythrocyte protoporphyrin concentration

HP:0012187

Related Conditions

X-linked dominant hereditary disease(parent)

Erythropoietic protoporphyria(parent)

Quick Facts

SNOMED CT: 1197360001
UMLS CUI: C2677889
Fully Specified Name: X-linked dominant erythropoietic protoporphyria (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 5

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.