X-linked lymphoproliferative syndrome type 2

disorder

SNOMED 1162830004CUI C1845076

Overview

X-linked lymphoproliferative syndrome type 2 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.

Immune deficiency

Very frequent (80-99%)HP:0002721

Increased ferritin

Very frequent (80-99%)HP:0003281

Increased triglycerides

Very frequent (80-99%)HP:0002155

Low fibrinogen level

Very frequent (80-99%)HP:0011900

Pyrexia

Very frequent (80-99%)HP:0001945

Crohn's disease

Frequent (30-79%)HP:0100280

Hemophagocytosis

Frequent (30-79%)HP:0012156

Hepatitis

Frequent (30-79%)HP:0012115

Intermittent fever

Frequent (30-79%)HP:0001954

Jejunoileal ulceration

Frequent (30-79%)HP:0005229

Large spleen

Frequent (30-79%)HP:0001744

Pancytopenia

Frequent (30-79%)HP:0001876

Spleen hemophagocytosis

Frequent (30-79%)HP:0034799

Cholangitis

Occasional (5-29%)HP:0030151

Colitis

Occasional (5-29%)HP:0002583

Decreased serum immunoglobulin

Occasional (5-29%)HP:0004313

Erythema nodosum

Occasional (5-29%)HP:0012219

Fulminant infectious mononucleosis

Occasional (5-29%)HP:0031693

Inflammatory bowel disease

Occasional (5-29%)HP:0002037

Joint inflammation

Occasional (5-29%)HP:0001369

Nephritis

Occasional (5-29%)HP:0000123

Predisposition to infections

Occasional (5-29%)HP:0002719

Reduced total natural killer cell count

Occasional (5-29%)HP:0040218

Renal insufficiency

Occasional (5-29%)HP:0000083

Skin abscess

Occasional (5-29%)HP:0031292

Uveitis

Occasional (5-29%)HP:0000554

Aplastic anemia

Very rare (1-4%)HP:0001915

Hepatic insufficiency

Very rare (1-4%)HP:0001399

Breaking out

HP:0001061

Enlarged liver

HP:0002240

Related Conditions

X-linked lymphoproliferative syndrome(parent)

Quick Facts

SNOMED CT: 1162830004
UMLS CUI: C1845076
Fully Specified Name: X-linked lymphoproliferative disease due to XIAP 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.