Gap junction protein gamma 2-related late-onset primary lymphoedema

disorder

SNOMED 1222670005CUI C5681305

Overview

Gap junction protein gamma 2-related late-onset primary lymphoedema 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 lymphatic vessel morphology

Frequent (30-79%)HP:0100766

Ankle swelling

Frequent (30-79%)HP:0001785

Hypoplasia of lymphatic vessels

Frequent (30-79%)HP:0003759

Pedal oedema

Frequent (30-79%)HP:0010741

Predominantly lower limb lymphedema

Frequent (30-79%)HP:0003550

Facial swelling

Occasional (5-29%)HP:0000282

Oedema of the dorsum of hands

Occasional (5-29%)HP:0007514

Skin infections

Occasional (5-29%)HP:0100658

Skin infections, recurrent

Occasional (5-29%)HP:0001581

Varicose veins

Occasional (5-29%)HP:0002619

Venous insufficiency

Occasional (5-29%)HP:0005293

Eyelid ptosis

Very rare (1-4%)HP:0000508

Genital oedema

Very rare (1-4%)HP:0031188

Related Conditions

Primary lymphedema(parent)

Genetic disease(parent)

Quick Facts

SNOMED CT: 1222670005
UMLS CUI: C5681305
Fully Specified Name: Gap junction protein gamma 2-related late-onset primary lymphedema (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 13

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.