Preferred Label : Aortic aneurysm syndrome, Loeys-Dietz type;
ICD-11 definition : Loeys-Dietz syndrome type 1 is a Marfan-related disorder characterized by the association
of aortic aneurysms, hypertelorism (widely spaced eyes), cleft palate and/or bifid
uvula and generalized arterial tortuosity. Other findings include craniosynostosis,
exotropy, micrognathia and retrognathia, structural brain abnormalities, intellectual
deficit, congenital heart disease, translucent skin, joint hyperlaxity and aneurysm
with dissection throughout the arterial tree.;
ICD-11 synonym : Loeys-Dietz syndrome type 1;
Origin ID : 999490064;
UMLS CUI : C2697933;
Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to BTNT
- Validated automatic mappings to NTBT
Loeys-Dietz syndrome type 1 is a Marfan-related disorder characterized by the association
of aortic aneurysms, hypertelorism (widely spaced eyes), cleft palate and/or bifid
uvula and generalized arterial tortuosity. Other findings include craniosynostosis,
exotropy, micrognathia and retrognathia, structural brain abnormalities, intellectual
deficit, congenital heart disease, translucent skin, joint hyperlaxity and aneurysm
with dissection throughout the arterial tree.
