Periodic fever, infantile enterocolitis, autoinflammatory syndrome

disorder

SNOMED 1197594000CUI C4015067

Overview

Periodic fever, infantile enterocolitis, autoinflammatory 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.

Decreased haemoglobin

Always present (100%)HP:0001903

Elevated C-reactive protein level

Always present (100%)HP:0011227

Feeding difficulties in infancy

Always present (100%)HP:0008872

Hives

Always present (100%)HP:0001025

Increased serum ferritin level

Always present (100%)HP:0003281

Intermittent fever

Always present (100%)HP:0001954

Large spleen

Always present (100%)HP:0001744

Low platelet count

Always present (100%)HP:0001873

Postnatal failure to thrive

Always present (100%)HP:0001508

Pyrexia

Always present (100%)HP:0001945

Tiredness

Always present (100%)HP:0012378

Arthralgias

Frequent (30-79%)HP:0002829

Decreased body height

Frequent (30-79%)HP:0004322

Diffuse alveolar hemorrhage

Frequent (30-79%)HP:0025420

Disseminated intravascular coagulation

Frequent (30-79%)HP:0005521

Hypoalbuminaemia

Frequent (30-79%)HP:0003073

Meningitis

Frequent (30-79%)HP:0001287

Muscle pain

Frequent (30-79%)HP:0003326

Pancytopenia

Frequent (30-79%)HP:0001876

Reduced natural killer cell activity

Frequent (30-79%)HP:0012177

Reduced total natural killer cell count

Frequent (30-79%)HP:0040218

Secretory diarrhea

Frequent (30-79%)HP:0005208

Skin rash

Frequent (30-79%)HP:0000988

Enterocolitis

HP:0004387

Episodic vomiting

HP:0002572

Low fibrinogen level

HP:0011900

Small intestine biopsy shows villous atrophy

HP:0011473

Related Conditions

Autosomal dominant hereditary disorder(parent)

Digestive system hereditary disorder(parent)

Hereditary periodic fever(parent)

Hereditary white blood cell disorder(parent)

Macrophage activation syndrome(parent)

Enterocolitis(parent)

Quick Facts

SNOMED CT: 1197594000
UMLS CUI: C4015067
Fully Specified Name: Periodic fever, infantile enterocolitis, autoinflammatory syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 27

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.