marfan syndrome

Preferred Label : marfan syndrome;

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.; 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 (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2.; An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2.;

MeSH synonym : marfans syndrome; marfan's syndrome;

CISMeF synonym : Marfan; marfan syndrome, type I; syndrome, marfan; syndrome, marfan's;

MeSH hyponym : Marfan Syndrome, Type I; Marfan Syndrome, Type II; Marfan Like Connective Tissue Disorder;

Wikipedia link : https://en.wikipedia.org/wiki/Marfan syndrome;

Details

Origin ID

D008382;

UMLS CUI

C0024796;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Family History of Marfan Syndrome [NCIt concept]
- Loeys-Dietz Syndrome Type 2 [NCIt concept]
- Loeys-Dietz syndrome 2 [DO Concept]
- Loeys-dietz syndrome 2 [OMIM Phenotype]
- fibrillin 1 [ORDO Gene]
- fibrillin 1 [HGNC gene]
Currated CISMeF NLP mapping
- Marfan Syndrome [NCIt concept]
- Marfan syndrome [ACR pathology]
- Marfan syndrome [ACR pathology]
- Marfan syndrome [ACR pathology]
- Marfan syndrome [ACR pathology]
- Marfan syndrome [PASCAL descriptor]
- Marfan syndrome [Disease (Nov.)]
- Marfan syndrome [DO Concept]
- 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's syndrome [SNOMED Notion]
DO Cross reference
- Marfan syndrome [DO Concept]
False automatic mappings
- Disproportionate tall stature [HPO term]
- arachnodactyly [SNOMED Notion]
Manual NTBT mappings (CISMeF)
- Lens position anomaly [ORDO Disease]
- MASS syndrome [ORDO Disease]
- Rare developmental defect with connective tissue involvement [ORDO Disease]
- Rare disease with glaucoma as a major feature [ORDO Disease]
- Rare systemic disease [ORDO Disease]
- Syndromic keratoconus [ORDO Disease]
- Syndromic myopia [ORDO Disease]
- congenital anomaly nos/multiple [ICPC-2 Rubric]
ORDO relation(s)
- Marfan syndrome [ORDO Disease]
Record concept(s)
- Marfan Syndrome Type 1 [MeSH concept]
- Marfan Syndrome type 2 [MeSH concept]
- marfan syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- cutis Laxa-Marfanoid syndrome [MeSH Supplementary Concept]
- furlong syndrome [MeSH Supplementary Concept]
- lujan fryns syndrome [MeSH Supplementary Concept]
- marfanoid habitus with microcephaly and glomerulonephritis [MeSH Supplementary Concept]
- marfanoid habitus with situs inversus [MeSH Supplementary Concept]
- marfanoid hypermobility syndrome [MeSH Supplementary Concept]
- marfanoid mental retardation syndrome, autosomal [MeSH Supplementary Concept]
- shprintzen golberg craniosynostosis [MeSH Supplementary Concept]
See also
- Loeys-Dietz syndrome [MeSH Descriptor]
- Weill-Marchesani syndrome [MeSH Descriptor]
See also (suggested by CISMeF)
- fibrillin-1 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Marfan Syndrome [NCIt 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's syndrome [SNOMED Notion]
Validated automatic mappings to NTBT
- Connective tissue disease with eye involvement [ORDO Disease]
- Other congenital malformations of upper limb(s), including shoulder girdle [ICD-10 Sub-category (who)]

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