Hereditary angioedema with C1Inh (C1 esterase inhibitor) deficiency

disorder

SNOMED 1230015008CUI C4552294

Overview

Hereditary angioedema with C1Inh (C1 esterase inhibitor) deficiency 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.

Angiooedema

Frequent (30-79%)HP:0100665

Decreased circulating C1-esterase inhibitor concentration

Frequent (30-79%)HP:0034204

Decreased serum complement C4 level

Frequent (30-79%)HP:0045042

Diarrhea

Frequent (30-79%)HP:0002014

Erythema marginatum

Frequent (30-79%)HP:6001012

Facial swelling

Frequent (30-79%)HP:0000282

Gastro pain

Frequent (30-79%)HP:0002027

Genital oedema

Frequent (30-79%)HP:0031188

Joint swelling

Frequent (30-79%)HP:0001386

Laryngeal edema

Frequent (30-79%)HP:0012027

Muscular edema

Frequent (30-79%)HP:0100748

Nausea and vomiting

Frequent (30-79%)HP:0002017

Non-pitting edema

Frequent (30-79%)HP:6000507

Pain

Frequent (30-79%)HP:0012531

Serpiginous cutaneous lesion

Frequent (30-79%)HP:0025527

Skin rash

Frequent (30-79%)HP:0000988

Swollen throat

Frequent (30-79%)HP:0011855

Headache

Occasional (5-29%)HP:0002315

Paresthesia

Occasional (5-29%)HP:0003401

Prostration

Occasional (5-29%)HP:0025406

Tiredness

Occasional (5-29%)HP:0012378

Episodic upper airway obstruction

Very rare (1-4%)HP:0012271

Related Conditions

Hereditary angioneurotic edema - type 2(child)

Hereditary C1 esterase inhibitor deficiency - deficient factor(child)

Hereditary angioneurotic edema(parent)

Quick Facts

SNOMED CT: 1230015008
UMLS CUI: C4552294
Fully Specified Name: Hereditary angioedema with C1 esterase inhibitor deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 22

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.