Search on: FAMILIAL THIRD AND FOURTH PHARYNGEAL POUCH SYNDROME 
Descriptors Found: 1
Displaying: 1 .. 1  

 1 / 1 DeCS     
Descriptor English:   DiGeorge Syndrome 
Descriptor Spanish:   Síndrome de DiGeorge 
Descriptor Portuguese:   Síndrome de DiGeorge 
Synonyms English:   22q11.2 Deletion Syndrome
22q11.2DS
Autosomal Dominant Opitz G Bbb Syndrome
Autosomal Dominant Opitz G-Bbb Syndrome
Catch22
Conotruncal Anomaly Face Syndrome
Conotruncal Anomaly Face Syndrome (CTAF)
Deletion 22q11.2 Syndrome
Deletion Syndrome, 22q11.2
DiGeorge Anomaly
DiGeorge Sequence
Familial Third and Fourth Pharyngeal Pouch Syndrome
Hypoplasia of Thymus and Parathyroids
Pharyngeal Pouch Syndrome
Sedlackova Syndrome
Shprintzen Syndrome
Shprintzen VCF Syndrome
Syndrome, DiGeorge
Syndrome, Sedlackova
Syndrome, Shprintzen
Syndrome, VCF
Syndrome, Velo-Cardio-Facial
Syndrome, Velocardiofacial
Third and Fourth Pharyngeal Pouch Syndrome
Thymic Aplasia Syndrome
VCF Syndrome
Velo Cardio Facial Syndrome
Velo-Cardio-Facial Syndrome
Velocardiofacial Syndrome  
Tree Number:   C05.660.207.103.500
C14.240.400.021.500
C14.280.400.044.500
C15.604.451.249.500
C16.131.077.019.500
C16.131.240.400.021.500
C16.131.260.019.500
C16.131.482.249.500
C16.131.621.207.103.500
C16.320.180.019.500
C19.642.482.500.500
Definition English:   Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies. 
See Related English:   Claudin-5
 
History Note English:   91(77); was see under IMMUNOLOGIC DEFICIENCY SYNDROMES 1977-90 
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:   4100 
Unique Identifier:   D004062 

Occurrence in VHL:
 

Similar:

 
DeCS