Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency

disorder

SNOMED 773702002CUI C2748507

Overview

Autoinflammatory disease due to interleukin-1 receptor antagonist 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.

Abscess

Always present (100%)HP:0025615

Broad ribs

Always present (100%)HP:0000885

Delayed motor milestones

Always present (100%)HP:0001270

Elevated C-reactive protein level

Always present (100%)HP:0011227

Elevated sedimentation rate

Always present (100%)HP:0003565

Epidermal hyperkeratosis

Always present (100%)HP:0000962

Epidermal hyperplasia

Always present (100%)HP:0025092

Failure to thrive in first year of life

Always present (100%)HP:0001531

Flaring of rib cage

Always present (100%)HP:0000904

Joint swelling

Always present (100%)HP:0001386

Neutrophilia

Always present (100%)HP:0011897

Osteopenia

Always present (100%)HP:0000938

Pimple

Always present (100%)HP:0200039

Skin rash

Always present (100%)HP:0000988

Bone infection

Very frequent (80-99%)HP:0002754

Breakdown of bone

Very frequent (80-99%)HP:0002797

Foetal distress

Frequent (30-79%)HP:0025116

Fused neck

Frequent (30-79%)HP:0002949

Pulmonary fibrosis

Occasional (5-29%)HP:0002206

Arthralgias

HP:0002829

Enlarged liver

HP:0002240

Gingivostomatitis

HP:0010280

Laboured breathing

HP:0002098

Large spleen

HP:0001744

Periostalgia

HP:0040165

Related Conditions

Congenital immunodeficiency disease(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of immune system(parent)

Primary immune deficiency disorder(parent)

Hereditary disorder of the integument(parent)

Skeletal dysplasia(parent)

Neonatal dermatosis(parent)

Hereditary disorder of musculoskeletal system(parent)

Congenital anomaly of skeletal bone(parent)

Pustule(parent)

Developmental hereditary disorder(parent)

Autoinflammatory syndrome(parent)

Quick Facts

SNOMED CT: 773702002
UMLS CUI: C2748507
Fully Specified Name: Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 25

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.