Autosomal recessive hyperimmunoglobulin M syndrome due to uracil DNA glycosylase deficiency

disorder

SNOMED 1351569004CUI C1720958

Overview

Autosomal recessive hyperimmunoglobulin M syndrome due to uracil DNA glycosylase 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.

Decreased serum IgG

Always present (100%)HP:0004315

Impaired Ig class switch recombination

Always present (100%)HP:0002959

Increased IgM levels

Always present (100%)HP:0003496

Low levels of immunoglobulin A

Always present (100%)HP:0002720

Lymph node hyperplasia

Always present (100%)HP:0002716

Recurrent bacterial infections

Always present (100%)HP:0002718

Epididymitis

Frequent (30-79%)HP:0000031

Recurrent upper and lower respiratory tract infections

Frequent (30-79%)HP:0200117

Immune deficiency

HP:0002721

Related Conditions

Hyper-IgM syndrome without susceptibility to opportunistic infections(parent)

Autosomal recessive hyper-IgM syndrome(parent)

Quick Facts

SNOMED CT: 1351569004
UMLS CUI: C1720958
Fully Specified Name: Autosomal recessive hyperimmunoglobulin M syndrome due to uracil DNA glycosylase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 9

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.