Loeys-Dietz syndrome

Preferred Label : Loeys-Dietz syndrome;

MeSH definition : An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling due to mutations in type I or II of TGF-BETA RECEPTOR. Additional craniofacial features include CLEFT PALATE; CRANIOSYNOSTOSIS; HYPERTELORISM; or bifid uvula. Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS-DANLOS SYNDROME.;

MeSH synonym : Syndrome, Loeys-Dietz; loeys dietz syndrome;

CISMeF synonym : Loeys-Dietz; Loeys-Dietz's syndrome;

MeSH hyponym : Loeys Dietz Syndrome, Type 1a;

Related MeSH term : Loeys-Dietz aortic aneurysm syndrome; Loeys Dietz Aortic Aneurysm Syndrome; Loeys-Dietz Syndrome, Type 1a; Loeys Dietz Syndrome, Type 1a;

Wikipedia link : https://en.wikipedia.org/wiki/Loeys-dietz syndrome;

Details

Origin ID

D055947;

UMLS CUI

C2697932;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
CISMeF manual mappings
- Loeys-Dietz syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Loeys Dietz syndrome [Disease (Nov.)]
- Loeys-Dietz Syndrome [NCIt concept]
- Loeys-Dietz syndrome [ORDO Disease]
- Loeys-Dietz syndrome [DO Concept]
- Loeys-Dietz syndrome [MedDRA Preferred Term]
- Loeys-dietz syndrome [OMIM phenotypic series]
DO Cross reference
- Loeys-Dietz syndrome [DO Concept]
Manual NTBT mappings (CISMeF)
- Rare vascular disease [ORDO Disease]
Record concept(s)
- Loeys-Dietz Syndrome, Type 1a [MeSH concept]
- Loeys-Dietz aortic aneurysm syndrome [MeSH concept]
- Loeys-Dietz syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- Loeys-Dietz syndrome, type 1b [MeSH Supplementary Concept]
- Loeys-Dietz syndrome, type 2A [MeSH Supplementary Concept]
- aortic aneurysm, familial thoracic 3 [MeSH Supplementary Concept]
- ascending aortic aneurysm, hypertelorism, bifid uvula, cleft palate, and arterial tortuosity [MeSH Supplementary Concept]
See also
- ehlers-danlos syndrome [MeSH Descriptor]
- marfan syndrome [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Loeys Dietz syndrome [Disease (Nov.)]
- Loeys-Dietz Syndrome [NCIt concept]
- Loeys-Dietz syndrome [DO Concept]
- Loeys-Dietz syndrome [MedDRA Preferred Term]
- Loeys-Dietz syndrome (disorder) [SNOMED CT concept]
Validated automatic mappings to BTNT
- Loeys-Dietz Syndrome Type 1 [NCIt concept]
- Loeys-dietz syndrome 1 [OMIM Phenotype]

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