Loeys-Dietz Syndrome Type 2

Preferred Label : Loeys-Dietz Syndrome Type 2;

NCIt synonyms : Loeys-Dietz Syndrome Type II; Marfan Syndrome Type 2; Marfan Syndrome Type II;

NCIt definition : A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2.;

Details

Origin ID

C114768;

UMLS CUI

C2931058;

Automatic exact mappings (from CISMeF team)
- Loeys-dietz syndrome 2 [OMIM Phenotype]
- Marfan Syndrome type 2 [MeSH concept]
- Marfan syndrome type 2 [ORDO Disease]
- Marfan syndrome type 2 [ICD-11 More detail]
- marfan syndrome [MeSH Descriptor]
CISMeF manual mappings
- Loeys-Dietz syndrome 2 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Loeys-Dietz syndrome 2 [DO Concept]
- Loeys-dietz syndrome, type 2b [OMIM Phenotype]
- Marfan Syndrome type 2 [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- TGFBR2 Gene [NCIt concept]
related_to_genetic_biomarker
- TGFBR2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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