Meyenburg-Altherr-Uehlinger syndrome

disorder

SNOMED 72275000CUI C0032453

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Treatments & Interventions

Dapsone

substance

Research Evidence

Peer-reviewed studies linked via MeSH term "Polychondritis, Relapsing" from the MEDLINE/PubMed database.

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Systematic Literature Review of the Presentation and Management of Pediatric Relapsing Polychondritis.

[object Object], [object Object], [object Object] et al. · Ann Otol Rhinol Laryngol · 2024

PMID: 39162098Meta-Analysis

Association of common variable immunodeficiency and rare and complex connective tissue and musculoskeletal diseases. A systematic literature review.

[object Object], [object Object], [object Object] et al. · Clin Exp Rheumatol · 2022

PMID: 35349404Meta-Analysis

Treatment of relapsing polychondritis: a systematic review.

[object Object], [object Object], [object Object] et al. · Clin Exp Rheumatol · 2022

PMID: 35238756Meta-Analysis

Rare within rare. Necrotising scleritis and peripheral ulcerative keratitis: eye-threatening complications of relapsing polychondritis.

[object Object], [object Object], [object Object] et al. · Clin Exp Rheumatol · 2022

PMID: 35238768Meta-Analysis

Large-vessel Vasculitis Affecting the Aorta and its Branches in Relapsing Polychondritis: Case Series and Systematic Review of the Literature.

[object Object], [object Object], [object Object] et al. · J Rheumatol · 2020

PMID: 31839593Meta-Analysis

Assessment of TNF-α inhibitors in airway involvement of relapsing polychondritis: A systematic review.

[object Object], [object Object], [object Object] et al. · Medicine (Baltimore) · 2019

PMID: 31689839Meta-AnalysisFull text (PMC)

Biologics in relapsing polychondritis: a literature review.

[object Object], [object Object], [object Object] · Semin Arthritis Rheum · 2012

PMID: 22071463Meta-Analysis

Pediatric-onset relapsing polychondritis: case series and systematic review.

[object Object], [object Object], [object Object] et al. · J Pediatr · 2010

PMID: 19880136Meta-Analysis

Demographic, clinical, treatment, outcome, and comorbidities of patients with relapsing polychondritis: experience from Brazilian tertiary center, and literature review.

[object Object], [object Object], [object Object] · Adv Rheumatol · 2025

PMID: 40369621Review

Unveiling the clinical spectrum of relapsing polychondritis: insights into its pathogenesis, novel monogenic causes, and therapeutic strategies.

[object Object], [object Object], [object Object] · Adv Rheumatol · 2024

PMID: 38627861Review

Search all PubMed articles for Meyenburg-Altherr-Uehlinger syndrome

Research data from MEDLINE/PubMed

Signs & Symptoms

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

Chondritis

Very frequent (80-99%)HP:0100662

Chondritis of pinna

Very frequent (80-99%)HP:0200047

Joint inflammation

Very frequent (80-99%)HP:0001369

Large vessel vasculitis

Very frequent (80-99%)HP:0005310

Lens opacities

Very frequent (80-99%)HP:0000518

Abnormal aortic valve morphology

Frequent (30-79%)HP:0001646

Ataxia

Frequent (30-79%)HP:0001251

Coughing

Frequent (30-79%)HP:0012735

Difficulty breathing

Frequent (30-79%)HP:0002094

Dizziness

Frequent (30-79%)HP:0002321

Husky voice

Frequent (30-79%)HP:0001609

Limitation of joint mobility

Frequent (30-79%)HP:0001376

Nausea and vomiting

Frequent (30-79%)HP:0002017

Pulmonary atelectasis

Frequent (30-79%)HP:0100750

Ringing in ears

Frequent (30-79%)HP:0000360

Swelling or irritation of membrane around heart

Frequent (30-79%)HP:0001701

Tracheobronchomalacia

Frequent (30-79%)HP:0002786

Wheezing

Frequent (30-79%)HP:0030828

Abnormal endocardium morphology

Occasional (5-29%)HP:0004306

Abnormal mitral valve physiology

Occasional (5-29%)HP:0031481

Abnormal respiratory patterns

Occasional (5-29%)HP:0002793

Aneurysmal disease

Occasional (5-29%)HP:0002617

Anterior bulging of the globe of eye

Occasional (5-29%)HP:0000520

Anteriorly displaced anus

Occasional (5-29%)HP:0001545

Antinuclear antibodies

Occasional (5-29%)HP:0003493

Aphonia

Occasional (5-29%)HP:0001686

Arthralgias

Occasional (5-29%)HP:0002829

Blood clot in vein

Occasional (5-29%)HP:0004936

Blood in urine

Occasional (5-29%)HP:0000790

Buccal aphthous ulcers

Occasional (5-29%)HP:0011107

Related Conditions

Relapsing polychondritis of larynx(child)

Chondromalacia(parent)

Autoimmune connective tissue disorder(parent)

Inflammatory disorder of cartilage(parent)

Systemic disease(parent)

Quick Facts

SNOMED CT: 72275000
UMLS CUI: C0032453
Fully Specified Name: Relapsing polychondritis (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30
Known Treatments: 1

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.