MedlinePlus Health Topics

Last uploaded: January 29, 2019
Preferred Name

Marfan Syndrome

Definitions

<p>Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. One of these proteins is fibrillin. A problem with the fibrillin gene causes Marfan syndrome. </p> <p>Marfan syndrome can be mild to severe, and the symptoms can vary. People with Marfan syndrome are often very tall, thin, and loose jointed. Most people with Marfan syndrome have heart and blood vessel problems, such as a weakness in the aorta or heart valves that leak. They may also have problems with their bones, eyes, skin, nervous system, and lungs.</p> <p>There is no single test to diagnose Marfan syndrome. Your doctor may use your medical history, family history, and a physical exam to diagnose it. Marfan syndrome has no cure, but treatments can help delay or prevent complications. Treatments include medicines, surgery, and other therapies.</p> <p >NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases</p>

ID

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0024796

cui

C0024796

Date created

11/17/1999

definition

Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. One of these proteins is fibrillin. A problem with the fibrillin gene causes Marfan syndrome.

Marfan syndrome can be mild to severe, and the symptoms can vary. People with Marfan syndrome are often very tall, thin, and loose jointed. Most people with Marfan syndrome have heart and blood vessel problems, such as a weakness in the aorta or heart valves that leak. They may also have problems with their bones, eyes, skin, nervous system, and lungs.

There is no single test to diagnose Marfan syndrome. Your doctor may use your medical history, family history, and a physical exam to diagnose it. Marfan syndrome has no cure, but treatments can help delay or prevent complications. Treatments include medicines, surgery, and other therapies.

NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

Inverse of SIB

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http://purl.bioontology.org/ontology/MEDLINEPLUS/C0027794

Mapped from

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0024796

Mapped to

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0024796

MP HEALTH TOPIC URL

https://medlineplus.gov/marfansyndrome.html

MP OTHER LANGUAGE URL

Spanish https://medlineplus.gov/spanish/marfansyndrome.html

MP PRIMARY INSTITUTE URL

National Institute of Arthritis and Musculoskeletal and Skin Diseases http://www.niams.nih.gov/

notation

C0024796

prefLabel

Marfan Syndrome

Related to

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0009782

tui

T047

subClassOf

http://purl.bioontology.org/ontology/MEDLINEPLUS/C1456603

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http://purl.bioontology.org/ontology/ICD10/Q87.4 International Classification of Diseases, Version 10 CUI
http://purl.obolibrary.org/obo/DOID_14323 Human Disease Ontology 123 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34807 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q87.4 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.40 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/OMIM/134797 Online Mendelian Inheritance in Man CUI
http://purl.bmicc.cn/ontology/ICD11CN/LD28.01 International Classification of Diseases, 11th Edition, China LOOM
http://purl.bioontology.org/ontology/OMIM/154700 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/154700 Online Mendelian Inheritance in Man LOOM
http://purl.bmicc.cn/ontology/ICD10CN/Q87.4 International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/MESH/D008382 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D008382 Medical Subject Headings LOOM