PLCG2-associated antibody deficiency and immune dysregulation

disorder

SNOMED 773646003CUI C4722480

Overview

PLCG2-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.

Cold urticaria

Always present (100%)HP:0410135

Erythema

Always present (100%)HP:0010783

Skin itching

Always present (100%)HP:0000989

Allergy

Frequent (30-79%)HP:0012393

Angiooedema

Frequent (30-79%)HP:0100665

Antinuclear antibodies

Frequent (30-79%)HP:0003493

Hay fever

Frequent (30-79%)HP:0003193

Presyncope

Frequent (30-79%)HP:0031972

Reactive airway disease

Frequent (30-79%)HP:0002099

Recurrent sinopulmonary infections

Frequent (30-79%)HP:0005425

Blotchy loss of skin colour

Occasional (5-29%)HP:0001045

Dermatographic urticaria

Occasional (5-29%)HP:0011971

Hashimoto's thyroiditis

Occasional (5-29%)HP:0000872

Onychomycosis

Occasional (5-29%)HP:0012203

Recurrent middle ear infection

Occasional (5-29%)HP:0000403

Related Conditions

Primary immune deficiency disorder(parent)

Familial cold urticaria(parent)

Quick Facts

SNOMED CT: 773646003
UMLS CUI: C4722480
Fully Specified Name: Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 15

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.