Loeys-dietz syndrome, type 2b

Preferred Label : Loeys-dietz syndrome, type 2b;

Obsolete resource : true;

Moved to : 610168;

Alternative titles and symbols : Lds2b; Aortic aneurysm, familial thoracic 3; Aat3; Marfan syndrome, type ii;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the transforming growth factor, beta receptorii gene (tgfbr2, 190182.0004);

Prefixed ID : 610380;

Details

Origin ID

610380;

UMLS CUI

C2931058;

Automatic exact mappings (from CISMeF team)
- aortic aneurysm, familial thoracic 3 [MeSH concept]
Broader ORDO disease(s)
- Loeys-Dietz syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Loeys Dietz syndrome type 2B [Disease (Nov.)]
- aortic aneurysm, familial thoracic 3 [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Marfan Syndrome Type II [NCIt concept]
- Marfan syndrome type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Loeys-Dietz Syndrome Type 2 [NCIt concept]
- Marfan Syndrome Type II [NCIt concept]
- Marfan Syndrome type 2 [MeSH concept]
- Marfan syndrome type 2 [ORDO Disease]

Keyword's position in hierarchy(ies) :

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