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Marfan's syndrome

disorder
SNOMED 19346006CUI C0024796

Overview

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

Signs & Symptoms

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

Aortic aneurysm
Very frequent (80-99%)HP:0004942
Arachnodactyly
Very frequent (80-99%)HP:0001166
Chronic extreme exhaustion
Very frequent (80-99%)HP:0012432
Dolichostenomelia
Very frequent (80-99%)HP:0001519
Fallen arches
Very frequent (80-99%)HP:0001763
Increased aortic root diameter
Very frequent (80-99%)HP:0002616
Pectus carinatum
Very frequent (80-99%)HP:0000768
Spontaneous collapsed lung
Very frequent (80-99%)HP:0002108
Striae atrophicae
Very frequent (80-99%)HP:0001065
Thin build
Very frequent (80-99%)HP:0001533
Abnormally indented hip sockets
Frequent (30-79%)HP:0003179
Anomaly of the zygomatic bone
Frequent (30-79%)HP:0010668
Aortic dissection
Frequent (30-79%)HP:0002647
Aortic valve regurgitation
Frequent (30-79%)HP:0001659
Ascending tubular aorta aneurysm
Frequent (30-79%)HP:0004970
Camptodactyly
Frequent (30-79%)HP:0012385
Cataract
Frequent (30-79%)HP:0000518
Cavus foot
Frequent (30-79%)HP:0001761
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Deep set eye
Frequent (30-79%)HP:0000490
Dental crowding
Frequent (30-79%)HP:0000678
Dural ectasia
Frequent (30-79%)HP:0100775
Globe elongated
Frequent (30-79%)HP:0007800
High arched palate
Frequent (30-79%)HP:0000218
Impaired vision
Frequent (30-79%)HP:0000505
Joint ligamentous laxity
Frequent (30-79%)HP:0001382
Joint pain/Joint inflammation
Frequent (30-79%)HP:0005059
Lens dislocation
Frequent (30-79%)HP:0001083
Lens luxation
Frequent (30-79%)HP:0012019
Mitral regurgitation
Frequent (30-79%)HP:0001653

Quick Facts

SNOMED CT
19346006
UMLS CUI
C0024796
Fully Specified Name
Marfan's syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
Clinical Trials
2
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.