X-linked lymphoproliferative syndrome type 1

disorder

SNOMED 1162828001CUI C5399825

Overview

X-linked lymphoproliferative syndrome type 1 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.

Elevated CRP

Always present (100%)HP:0011227

Intermittent fever

Always present (100%)HP:0001954

Low albumin

Always present (100%)HP:0003073

Pancytopenia

Always present (100%)HP:0001876

Reduced natural killer cell activity

Always present (100%)HP:0012177

Decreased circulating immunoglobulin concentration

Frequent (30-79%)HP:0004313

Decreased serum IgG

Frequent (30-79%)HP:0004315

Dysgammaglobulinemia

Frequent (30-79%)HP:0002961

Enlarged liver

Frequent (30-79%)HP:0002240

Hemophagocytosis

Frequent (30-79%)HP:0012156

Large spleen

Frequent (30-79%)HP:0001744

respiratory infections, recurrent

Frequent (30-79%)HP:0002205

Burkitt lymphoma

Occasional (5-29%)HP:0030080

Cancer of lymphatic system

Occasional (5-29%)HP:0002665

Fulminant hepatitis

Occasional (5-29%)HP:0004787

Fulminant infectious mononucleosis

Occasional (5-29%)HP:0031693

Hepatic failure

Occasional (5-29%)HP:0001399

Meningitis

Occasional (5-29%)HP:0001287

Neutropoenia

Occasional (5-29%)HP:0001875

Aplastic anemia

Very rare (1-4%)HP:0001915

Inflammation of blood vessel

Very rare (1-4%)HP:0002633

Abnormal number of B cells

Excluded (<1%)HP:0010975

Abnormal number of T cells

Excluded (<1%)HP:0011839

Brain inflammation

HP:0002383

Hepatic encephalopathy

HP:0002480

Immune deficiency

HP:0002721

Increased IgM levels

HP:0003496

Increased total lymphocyte count

HP:0100827

Lymph node hyperplasia

HP:0002716

Recurrent sore throat

HP:0100776

Related Conditions

X-linked lymphoproliferative syndrome(parent)

Quick Facts

SNOMED CT: 1162828001
UMLS CUI: C5399825
Fully Specified Name: X-linked lymphoproliferative disease due to SH2D1A deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.