NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome

disorder

SNOMED 783146009CUI C2673198

Overview

NLR family pyrin domain containing 12-associated hereditary 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 CRP

Always present (100%)HP:0011227

Elevated sedimentation rate

Always present (100%)HP:0003565

Increased total leukocyte count

Always present (100%)HP:0001974

Intermittent fever

Always present (100%)HP:0001954

Arthralgias

Very frequent (80-99%)HP:0002829

Hives

Very frequent (80-99%)HP:0001025

Erythema nodosum

Frequent (30-79%)HP:0012219

Headache

Frequent (30-79%)HP:0002315

Large spleen

Frequent (30-79%)HP:0001744

Lower limb pain

Frequent (30-79%)HP:0012514

Muscle pain

Frequent (30-79%)HP:0003326

Sensorineural deafness

Frequent (30-79%)HP:0000407

Swollen lymph nodes

Frequent (30-79%)HP:0002716

Throat pain

Frequent (30-79%)HP:0033050

Abdominal discomfort

HP:0002027

Aphthous stomatitis

HP:0011107

Arthritis

HP:0001369

Skin rash

HP:0000988

Related Conditions

Autosomal dominant hereditary disorder(parent)

Hereditary periodic fever(parent)

Hereditary disorder of immune system(parent)

Quick Facts

SNOMED CT: 783146009
UMLS CUI: C2673198
Fully Specified Name: NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 18

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.