X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia

disorder

SNOMED 711481001CUI C3275445

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.

B-cell lymphoma

Always present (100%)HP:0012191

Bronchitis, recurrent

Always present (100%)HP:0002837

Chronic active Epstein-Barr virus infection

Always present (100%)HP:0032204

Decreased CD69 upregulation upon TCR activation

Always present (100%)HP:0031268

Decreased proportion of CD4-positive T cells

Always present (100%)HP:0032218

Hodgkin's lymphoma

Always present (100%)HP:0012189

Idiopathic thrombocytopenic purpura

Always present (100%)HP:0001973

Inverted CD4/CD8 ratio

Always present (100%)HP:0033222

Large spleen

Always present (100%)HP:0001744

Lymph node hyperplasia

Always present (100%)HP:0002716

Lymphoproliferative disorders

Always present (100%)HP:0005523

Persistent CMV viremia

Always present (100%)HP:0032247

Persistent EBV viremia

Always present (100%)HP:0020072

Recurrent middle ear infection

Always present (100%)HP:0000403

Recurrent sinus infections

Always present (100%)HP:0011108

Swollen lymph nodes in centre of chest

Always present (100%)HP:0100721

Bronchiectasis

Frequent (30-79%)HP:0002110

respiratory infections, recurrent

Frequent (30-79%)HP:0002205

Severe varicella zoster infection

Occasional (5-29%)HP:0032170

Cancer of lymphatic system

HP:0002665

Decreased specific anti-polysaccharide antibody level

HP:0002848

Decreased T-lymphocyte activation

HP:0005419

Immune deficiency

HP:0002721

Recurrent viral infections

HP:0004429

Related Conditions

Lymphoproliferative disorder(parent)

X-linked recessive hereditary disease(parent)

Quick Facts

SNOMED CT: 711481001
UMLS CUI: C3275445
Fully Specified Name: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 24

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.