Family History of Marfan Syndrome

Preferred Label : Family History of Marfan Syndrome;

NCIt related terms : Marfan syndrome;

NCIt definition : A history of a first-degree relative with Marfan syndrome.;

Alternative definition : ACC/AHA: 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. Diagnosis is made based on the 2010 Revised Ghent Nosology for Marfan syndrome;

Details

Origin ID

C168205;

UMLS CUI

C4040152;

Automatic exact mappings (from CISMeF team)
- Family history of Marfan syndrome (situation) [SNOMED CT concept]
- Marfan syndrome [ORDO Disease]
- Marfan syndrome [OMIM Phenotype]
- Marfan syndrome [ICD-11 Sub-sub category]
- Marfan syndrome [ICD-9 code]
- Marfan syndrome [DO Concept]
- Marfan syndrome [PASCAL descriptor]
- Marfan's syndrome [MedDRA Preferred Term]
- Marfan's syndrome [ICD-10 Sub-category]
- Marfan's syndrome (disorder) [SNOMED CT concept]
- fibrillin 1 [ORDO Gene]
- fibrillin 1 [HGNC gene]
- marfan syndrome [MeSH Descriptor]
- marfan syndrome [MedlinePlus Topic]
- marfan syndrome [MeSH concept]
- marfan's syndrome [SNOMED Notion]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- Family history of Marfan syndrome (situation) [SNOMED CT concept]
concept_is_in_subset
- ACC/AHA Pediatric and Congenital Cardiology EHR Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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