Loeys-Dietz Syndrome Type 1

Preferred Label : Loeys-Dietz Syndrome Type 1;

NCIt synonyms : Loeys Dietz Syndrome Type 1;

NCIt definition : A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones.;

Details

Origin ID

C75119;

UMLS CUI

C2697933;

CISMeF manual mappings
- Loeys-Dietz syndrome 1 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aortic aneurysm syndrome, Loeys-Dietz type [ICD-11 More detail]
- Loeys-Dietz syndrome 1 [DO Concept]
Validated automatic mappings to NTBT
- Aortic aneurysm syndrome, Loeys-Dietz type [ICD-11 More detail]
- Loeys-Dietz syndrome [ORDO Disease]
- Loeys-Dietz syndrome [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- TGFBR1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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