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Polyostotic sclerosing histiocytosis

disorder
SNOMED 699537002CUI C0878675

Overview

Polyostotic sclerosing histiocytosis is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Research Evidence

Peer-reviewed studies linked via MeSH term "Erdheim-Chester Disease" from the MEDLINE/PubMed database.

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Radiological assessment of extremity bone involvement in Erdheim-Chester disease: a systematic review of case reports.
[object Object], [object Object], [object Object] et al. · Skeletal Radiol · 2025
PMID: 39652116Meta-Analysis
Hypophysitis: A comprehensive overview.
[object Object], [object Object], [object Object] et al. · Presse Med · 2021
PMID: 34687912Meta-Analysis
Skull Base Manifestations of Erdheim-Chester Disease: A Case Series and Systematic Review.
[object Object], [object Object], [object Object] et al. · Neurosurgery · 2019
PMID: 30828728Meta-Analysis
When flames hit the brain, and the spark is far away: the role of PET-CT in diagnosing neurological Erdheim-Chester disease.
[object Object], [object Object], [object Object] et al. · Arq Neuropsiquiatr · 2025
PMID: 40020759ReviewFull text (PMC)
Neuroimaging Spectrum of Erdheim-Chester Disease: An Image-Based Review.
[object Object], [object Object], [object Object] et al. · AJNR Am J Neuroradiol · 2025
PMID: 39578102ReviewFull text (PMC)
Approach to the Patient: From Endocrinopathy to the Diagnosis of a Histiocytic Disorder.
[object Object], [object Object], [object Object] et al. · J Clin Endocrinol Metab · 2025
PMID: 39699236ReviewFull text (PMC)
Recent advances in therapeutic strategies of Erdheim-Chester disease.
[object Object], [object Object], [object Object] et al. · Naunyn Schmiedebergs Arch Pharmacol · 2025
PMID: 39836251Review
Erdheim-Chester disease: Comprehensive insights from genetic mutations to clinical manifestations and therapeutic advances.
[object Object], [object Object], [object Object] et al. · Dis Mon · 2025
PMID: 39757048Review
Decoding Erdheim-Chester Disease: a Pictorial Essay of the Radiologic and Pathologic Findings, and its Main Differential Diagnoses.
[object Object], [object Object], [object Object] et al. · Clin Radiol · 2025
PMID: 40215805Review

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal metaphysis morphology
Very frequent (80-99%)HP:0000944
Anomaly of the epiphyses
Very frequent (80-99%)HP:0005930
Bone infection
Very frequent (80-99%)HP:0002754
Bone pain
Very frequent (80-99%)HP:0002653
Breakdown of bone
Very frequent (80-99%)HP:0002797
Diabetes insipidus
Very frequent (80-99%)HP:0000873
Extreme thirst
Very frequent (80-99%)HP:0001959
Hyperhidrosis
Very frequent (80-99%)HP:0000975
Increased bone mineral density
Very frequent (80-99%)HP:0011001
Isolated hypogonadotropic hypogonadism
Very frequent (80-99%)HP:0000044
Painful or difficult urination
Very frequent (80-99%)HP:0100518
Prominent globes
Very frequent (80-99%)HP:0000520
Pyrexia
Very frequent (80-99%)HP:0001945
Tiredness
Very frequent (80-99%)HP:0012378
Weight loss
Very frequent (80-99%)HP:0001824
Xanthoma
Very frequent (80-99%)HP:0001114
Abnormal aortic valve morphology
Frequent (30-79%)HP:0001646
Hydronephrosis
Frequent (30-79%)HP:0000126
Joint swelling
Frequent (30-79%)HP:0001386
Retroperitoneal fibrosis
Frequent (30-79%)HP:0005200
Stomach pain
Frequent (30-79%)HP:0002027
Abnormality of immune system physiology
Occasional (5-29%)HP:0010978
Abnormality of the pericardium
Occasional (5-29%)HP:0001697
Ataxia
Occasional (5-29%)HP:0001251
Cardiac insufficiency
Occasional (5-29%)HP:0001635
Cerebellar signs
Occasional (5-29%)HP:0001317
Coughing
Occasional (5-29%)HP:0012735
Death of bone due to decreased blood supply
Occasional (5-29%)HP:0010885
Decreased haemoglobin
Occasional (5-29%)HP:0001903
Difficulty articulating speech
Occasional (5-29%)HP:0001260

Quick Facts

SNOMED CT
699537002
UMLS CUI
C0878675
Fully Specified Name
Erdheim-Chester disease (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.