Loeys-Dietz Syndrome

Preferred Label : Loeys-Dietz Syndrome;

NCIt synonyms : Loeys Dietz Syndrome;

NCIt definition : A genetically heterogenous syndrome characterized by vascular abnormalities including aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries. Other findings include scoliosis, long fingers, and joint hypermobility. Patients with TGFBR1 gene mutations also exhibit hypertelorism, bifid uvula, and early fusion of the skull bones.;

Alternative definition : ACC/AHA: A genetic syndrome characterized by a rare autosomal dominant syndrome caused by mutations in the TGFBR1 or TGFBR2 genes. It is characterized by aortic dilation and dissection, vascular tortuosity, hypertelorism, bifid uvula, scoliosis, and pectus deformities.;

Details

Origin ID

C75006;

UMLS CUI

C2697932;

Currated CISMeF NLP mapping
- Loeys Dietz syndrome [Disease (Nov.)]
- Loeys-Dietz syndrome [DO Concept]
- Loeys-Dietz syndrome [MedDRA Preferred Term]
- Loeys-Dietz syndrome [MeSH Descriptor]
- Loeys-Dietz syndrome [MeSH concept]
- Loeys-Dietz syndrome [ORDO Disease]
- Loeys-Dietz syndrome (disorder) [SNOMED CT concept]
- Loeys-dietz syndrome [OMIM phenotypic series]
DO Cross reference
- Loeys-Dietz syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Loeys Dietz syndrome [Disease (Nov.)]
- Loeys-Dietz syndrome [DO Concept]
- Loeys-Dietz syndrome [MedDRA Preferred Term]
- Loeys-Dietz syndrome [MeSH concept]
- Loeys-Dietz syndrome [MeSH Descriptor]
- Loeys-Dietz syndrome (disorder) [SNOMED CT concept]
concept_is_in_subset
- ACC/AHA Pediatric and Congenital Cardiology EHR Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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