Marfan Syndrome Type II

Preferred Label : Marfan Syndrome Type II;

Obsolete resource : true;

NCIt definition : Marfan syndrome caused by mutations in the TGFBR2 gene.;

NCIt note : See 'Loeys-Dietz Syndrome Type 2(C114768)';

Concept status : Retired_Concept;

Details

Origin ID

C75007;

UMLS CUI

C2931058;

Automatic exact mappings (from CISMeF team)
- Loeys-Dietz syndrome 2 [DO Concept]
- Loeys-dietz syndrome 2 [OMIM Phenotype]
Currated CISMeF NLP mapping
- Marfan Syndrome type 2 [MeSH concept]
- Marfan syndrome type 2 [ORDO Disease]
- Marfan syndrome type 2 [ICD-11 More detail]
Has associated anatomic sites
- Bone [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
See also inter- (CISMeF)
- Loeys Dietz syndrome type 2B [Disease (Nov.)]
- Loeys-dietz syndrome, type 2b [OMIM Phenotype]
- aortic aneurysm, familial thoracic 3 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Loeys-dietz syndrome, type 2b [OMIM Phenotype]
- Marfan Syndrome type 2 [MeSH concept]

Keyword's position in hierarchy(ies) :

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