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22Q11 DELETION SYNDROMES
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DeCS
Descriptor
English
:
22q11 Deletion Syndrome
Descriptor
Spanish
:
Síndrome de Deleción 22q11
Descriptor
Portuguese
:
Síndrome da Deleção 22q11
Synonyms
English
:
22q11 Deletion Syndromes
Deletion Syndrome, 22q11
Deletion Syndromes, 22q11
Syndrome, 22q11 Deletion
Syndromes, 22q11 Deletion
Tree Number:
C05.660.207.103
C14.240.400.021
C14.280.400.044
C15.604.451.249
C16.131.077.019
C16.131.240.400.021
C16.131.260.019
C16.131.482.249
C16.131.621.207.103
C16.320.180.019
C19.642.482.500
Definition
English
:
Condition with a variable constellation of
phenotypes
due to deletion polymorphisms at
chromosome
location 22q11. It encompasses several syndromes with overlapping abnormalities including the
DIGEORGE SYNDROME
, VELOCARDIOFACIAL
SYNDROME
, and CONOTRUNCAL AMOMALY FACE
SYNDROME
. In addition, variable developmental problems and schizoid features are also associated with this
syndrome
. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion
syndrome.
History Note
English
:
2011
Allowable Qualifiers
English
:
BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology
GE
genetics
HI
history
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology
PP
physiopathology
PC
prevention & control
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
UR
urine
VE
veterinary
VI
virology
Record Number:
53952
Unique Identifier:
D058165
Occurrence in VHL
:
Similar:
DeCS