Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation

disorder

SNOMED 778004006CUI C3553961

Overview

Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation 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.

Arthralgias

Always present (100%)HP:0002829

Bronchiolitis

Always present (100%)HP:0011950

Decreased circulating total IgM

Always present (100%)HP:0002850

Decreased class-switched memory B cell proportion

Always present (100%)HP:0030388

Enterocolitis

Always present (100%)HP:0004387

Erythema

Always present (100%)HP:0010783

Interstitial pneumonitis

Always present (100%)HP:0006515

Low levels of immunoglobulin A

Always present (100%)HP:0002720

Recurrent sinopulmonary infections

Always present (100%)HP:0005425

Skin infection

Always present (100%)HP:0100658

Cataract

Frequent (30-79%)HP:0000518

Corneal erosion

Frequent (30-79%)HP:0200020

Ulcerative colitis

Frequent (30-79%)HP:0100279

Unregulated immune response

HP:0002958

Related Conditions

Autosomal dominant hereditary disorder(parent)

Autoimmune disease(parent)

Hereditary disorder of immune system(parent)

Autoinflammatory syndrome(parent)

Quick Facts

SNOMED CT: 778004006
UMLS CUI: C3553961
Fully Specified Name: Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 14

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.