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Marfan Syndrome (CUI C0024796) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0024796

NCI Thesaurus Code: C34807  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A genetic syndrome inherited as an autosomal dominant trait. It is caused by mutations in the FBN1 gene. It is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.

GARD Definition: Marfan syndrome is a disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). - this information is from GARD/ORDR/NCATS.

MEDLINEPLUS 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

NICHD Definition: An autosomal dominant condition caused by mutation(s) in the FBN1 gene, encoding fibrillin-1. This condition is characterized by tall stature, disproportionately long limbs, arachnodactyly, and hyperextensible joints; additional features may include scoliosis, kyphosis, pectus excavatum/carinatum, mitral valve prolapse, aortic dilatation, aortic dissection, and upward subluxation of one or both ocular lens.

CSP Definition: disorder of connective tissue characterized by tall stature, elongated extremities, subluxation of the lens, dilatation of the ascending aorta, and "pigeon breast"; inherited as an autosomal dominant trait.

MSH Definition: An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE, dilation of the AORTA, and aortic dissection. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome is associated with mutations in the gene encoding fibrillin, a major element of extracellular microfibrils of connective tissue.

Synonyms & Abbreviations: (see Synonym Details)
Marfan Syndrome [Disease/Finding]
Marfan Syndrome, Type I
Marfan syndrome
Marfan's disease
Marfan's syndrome (disorder)
Marfan's syndrome, unspecified
MARFAN'S SYNDROME
Marfans Syndrome
MFS1
MFS
Syndrome, Marfan's
Syndrome, Marfan

External Source Codes: 
NCI Thesaurus Code C34807 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID PKy2. SNOMEDCT_US
DATE_CREATED 11/17/1999 MEDLINEPLUS
DATE_CREATED 2015-01-22T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1849-5992 CSP
DISEASE_IDENTIFIER_ID 33308 GARD
DX 19850101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FX D055947 MSH
FX D056846 MSH
GENELOCUS ,1,5,q,2,1,.,1, OMIM
GENESYMBOL ACMICD OMIM
GENESYMBOL ECTOL1 OMIM
GENESYMBOL FBN1 OMIM
GENESYMBOL GPHYSD2 OMIM
GENESYMBOL MFS1 OMIM
GENESYMBOL SSKS OMIM
GENESYMBOL WMS2 OMIM
HAS_GARD_PAGE true GARD
HN 1985; use ARACHNODACTYLY 1963-1984 MSH
IAN DEFAULT ICD10
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2009-01-19T00:00:00 GARD
MDA 19990101 MSH
MESH_DEFINITION An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE, dilation of the AORTA, and aortic dissection. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome is associated with mutations in the gene encoding fibrillin, a major element of extracellular microfibrils of connective tissue. NDFRT
MESH_DUI D008382 NDFRT
MESH_NAME Marfan Syndrome NDFRT
MESH_UI M0013029 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C05.116.099.674 MSH
MN C14.240.400.725 MSH
MN C14.280.400.725 MSH
MN C16.131.077.550 MSH
MN C16.131.240.400.720 MSH
MN C16.320.540 MSH
MN C17.300.500 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
MOVED_FROM 248750 OMIM
MP_HEALTH_TOPIC_URL https://www.nlm.nih.gov/medlineplus/marfansyndrome.html MEDLINEPLUS
MP_OTHER_LANGUAGE_URL Spanish https://www.nlm.nih.gov/medlineplus/spanish/marfansyndrome.html MEDLINEPLUS
MP_PRIMARY_INSTITUTE_URL National Institute of Arthritis and Musculoskeletal and Skin Diseases http://www.niams.nih.gov/ MEDLINEPLUS
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Marfan Syndrome NCI
NUI N0000001945 NDFRT
ORDER_NO 28124 ICD10CM
ORDER_NO 28125 ICD10CM
PM 1985; see ARACHNODACTYLY 1963-1984 MSH
PRIMARY_PATH 10026829$10028381$10028396$10010331$Marfan's syndrome$Musculoskeletal and connective tissue disorders of limbs congenital$Musculoskeletal and connective tissue disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 20.0 MDR
PT_IN_VERSION 20.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/6975/marfan-syndrome/resources/1 GARD
RXAUI 3196690 RXNORM
RXAUI 3196691 RXNORM
RXAUI 3196692 RXNORM
RXAUI 5039625 RXNORM
RXCUI 1025544 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 19346006 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q87.4 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~Q87.4 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q87.40 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF DISORDER OF SKELETAL SYSTEM CO-OCCURRENT AND DUE TO MARFAN SYNDROME CHOOSE Q87.43 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF MARFAN'S SYNDROME AFFECTING SKIN CHOOSE L98.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF MARFANOID JOINT HYPERMOBILITY SYNDROME CHOOSE M35.7 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF MARFANOID JOINT HYPERMOBILITY SYNDROME CHOOSE Q87.43 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447638001 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447639009 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~3 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 16052791000119105 | Disorder of skeletal system co-occurrent and due to Marfan syndrome | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 234035006 | Marfan's syndrome affecting skin | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 57201002 | Marfanoid joint hypermobility syndrome | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~OTHERWISE TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~L98.9 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~M35.7 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q87.40 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q87.43 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~ SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~PKy2. SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T024931 MSH
TERMUI T024932 MSH
TERMUI T811740 MSH
TH GHR (2014) MSH
TH NLM (1966) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TH UNK (19XX) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0024796

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