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Descriptor English: Loeys-Dietz Syndrome
Descriptor Spanish: Síndrome de Loeys-Dietz
Descriptor Portuguese: Síndrome de Loeys-Dietz
Descriptor French: Syndrome de Loeys-Dietz
Entry term(s): Loeys Dietz Aortic Aneurysm Syndrome
Loeys Dietz Syndrome
Loeys Dietz Syndrome, Type 1a
Loeys-Dietz Aortic Aneurysm Syndrome
Loeys-Dietz Syndrome, Type 1a
Syndrome, Loeys-Dietz
Tree number(s): C05.660.207.532
C14.907.055.050.362
C14.907.055.239.587
C14.907.109.139.587
C16.131.077.537
C16.320.510
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D055947
Scope note: 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.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Aortic Aneurysm (2005-2009)
Marfan Syndrome (2005-2009)
Public MeSH Note: 2010
History Note: 2010
Related: Ehlers-Danlos Syndrome MeSH
Marfan Syndrome MeSH
DeCS ID: 53497
Unique ID: D055947
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2010/01/01
Date of Entry: 2009/07/06
Revision Date: 2018/10/10
Loeys-Dietz Syndrome - Preferred
Concept UI M0523270
Scope note 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.
Preferred term Loeys-Dietz Syndrome
Entry term(s) Loeys Dietz Syndrome
Syndrome, Loeys-Dietz
Loeys-Dietz Aortic Aneurysm Syndrome - Related but not broader or narrower
Concept UI M0525542
Scope note Loeys-Dietz Syndrome with aortic aneurysm or dissection.
Preferred term Loeys-Dietz Aortic Aneurysm Syndrome
Entry term(s) Loeys Dietz Aortic Aneurysm Syndrome
Loeys-Dietz Syndrome, Type 1a - Narrower
Concept UI M000644440
Preferred term Loeys-Dietz Syndrome, Type 1a
Entry term(s) Loeys Dietz Syndrome, Type 1a



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