Ferrochelatase deficiency

disorder

SNOMED 276265003CUI C0349426

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.

Eczema

HP:0000964

Erythema

HP:0010783

Gallstones

HP:0001081

Hemolytic anaemia

HP:0001878

Hepatic insufficiency

HP:0001399

Increased triglycerides

HP:0002155

Low tissue ferrochelatase activity

HP:6000697

Skin itching

HP:0000989

Water retention

HP:0000969

Related Conditions

Erythropoietic protoporphyria(child)

Enzymopathy(parent)

Disorder of porphyrin metabolism(parent)

Quick Facts

SNOMED CT: 276265003
UMLS CUI: C0349426
Fully Specified Name: Ferrochelatase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 9

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.