Hyper-IgD periodic fever syndrome

disorder

SNOMED 403834003CUI C0398691

Overview

Hyper-IgD periodic fever syndrome 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 urine mevalonate

Always present (100%)HP:0032638

Hepatosplenomegaly

Always present (100%)HP:0001433

Skin rash

Always present (100%)HP:0000988

Arthritic pain

Very frequent (80-99%)HP:0002829

Elevated sedimentation rate

Very frequent (80-99%)HP:0003565

Enlarged liver

Very frequent (80-99%)HP:0002240

Gastrointestinal haemorrhage

Very frequent (80-99%)HP:0002239

Increased circulating IgD level

Very frequent (80-99%)HP:0410246

Increased serum IgA

Very frequent (80-99%)HP:0003261

Inflammation of the lymph nodes

Very frequent (80-99%)HP:0002840

Intermittent fever

Very frequent (80-99%)HP:0001954

Muscle pain

Very frequent (80-99%)HP:0003326

Stomach pain

Very frequent (80-99%)HP:0002027

Swollen lymph nodes

Very frequent (80-99%)HP:0002716

Arthritis

Frequent (30-79%)HP:0001369

Buccal aphthous ulcers

Frequent (30-79%)HP:0011107

Chills

Frequent (30-79%)HP:0025143

Chronic diarrhoea

Frequent (30-79%)HP:0002028

Diarrhea

Frequent (30-79%)HP:0002014

Headache

Frequent (30-79%)HP:0002315

Hives

Frequent (30-79%)HP:0001025

Inflammation of blood vessel

Frequent (30-79%)HP:0002633

Large spleen

Frequent (30-79%)HP:0001744

Migraine headache

Frequent (30-79%)HP:0002076

Mouth ulcer

Frequent (30-79%)HP:0000155

Papules

Frequent (30-79%)HP:0200034

Vomiting

Frequent (30-79%)HP:0002013

Ataxia

Occasional (5-29%)HP:0001251

Blood spots

Occasional (5-29%)HP:0000979

Bowel obstruction

Occasional (5-29%)HP:0005214

Related Conditions

Hereditary periodic fever(parent)

Deficiency of mevalonate kinase(parent)

Disorder of lipid metabolism(parent)

Hereditary disorder of immune system(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 403834003
UMLS CUI: C0398691
Fully Specified Name: Hyperimmunoglobulinemia D with periodic fever (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.