Marfan Syndrome

Preferred Label : Marfan Syndrome;

NCIt synonyms : Marfan s Syndrome;

NCIt related terms : Marfan's 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.;

Alternative definition : NICHD: 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.; 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

C34807;

UMLS CUI

C0024796;

Automatic exact mappings (from CISMeF team)
- fibrillin 1 [ORDO Gene]
- fibrillin 1 [HGNC gene]
Currated CISMeF NLP mapping
- Marfan syndrome [PASCAL descriptor]
- Marfan syndrome [ACR pathology]
- Marfan syndrome [ACR pathology]
- Marfan syndrome [ACR pathology]
- Marfan syndrome [ACR pathology]
- Marfan syndrome [DO Concept]
- Marfan syndrome [Disease (Nov.)]
- Marfan syndrome [ICD-9 code]
- Marfan syndrome [ICD-11 Sub-sub category]
- Marfan syndrome [OMIM Phenotype]
- Marfan syndrome [ORDO Disease]
- Marfan's syndrome [ICD-10 Sub-category]
- Marfan's syndrome [MedDRA Preferred Term]
- Marfan's syndrome (disorder) [SNOMED CT concept]
- Marfans syndrome [ICD-10 Sub-category (who)]
- marfan syndrome [MedlinePlus Topic]
- marfan syndrome [MeSH Descriptor]
- marfan syndrome [MeSH concept]
- marfan's syndrome [SNOMED Notion]
DO Cross reference
- Marfan syndrome [DO Concept]
Has associated anatomic sites
- Bone [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Marfan syndrome [ORDO Disease]
- Marfan syndrome [OMIM Phenotype]
- Marfan syndrome [ACR pathology]
- Marfan syndrome [ACR pathology]
- Marfan syndrome [ACR pathology]
- Marfan syndrome [ACR pathology]
- Marfan syndrome [PASCAL descriptor]
- Marfan syndrome [DO Concept]
- Marfan syndrome [ICD-9 code]
- Marfan syndrome [Disease (Nov.)]
- Marfan syndrome [ICD-11 Sub-sub category]
- Marfan's syndrome [ICD-10 Sub-category]
- Marfan's syndrome [MedDRA Preferred Term]
- Marfan's syndrome (disorder) [SNOMED CT concept]
- Marfans syndrome [ICD-10 Sub-category (who)]
- marfan syndrome [MedlinePlus Topic]
- marfan syndrome [MeSH concept]
- marfan syndrome [MeSH Descriptor]
- marfan's syndrome [SNOMED Notion]
concept_is_in_subset
- ACC/AHA Pediatric and Congenital Cardiology EHR Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
- Pediatric Rheumatology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- FBN1 Gene [NCIt concept]
related_to_genetic_biomarker
- FBN1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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