DiGeorge Syndrome [DiGeorgeův syndrom]

topical
43
Terms

Di Georgeho syndrom
DiGeorgův syndrom
hypoplázie brzlíku a příštitných tělísek
Shprintzenův syndrom
syndrom konotrunkálních a obličejových anomálií
syndrom Sedláčkové
velo-kardio-faciální syndrom
velokardiofaciální syndrom

 

22q11.2 Deletion Syndrome
22q11.2DS
Autosomal Dominant Opitz G-Bbb Syndrome
Catch22
Conotruncal Anomaly Face Syndrome
Conotruncal Anomaly Face Syndrome (CTAF)
Deletion 22q11.2 Syndrome
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
Third and Fourth Pharyngeal Pouch Syndrome
Thymic Aplasia Syndrome
VCF Syndrome
Velo-Cardio-Facial Syndrome
Velocardiofacial Syndrome

Persistent link   https://www.medvik.cz/link/D004062
Definition

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.

DUI
D004062 MeSH Browser
CUI
M0006369
Previous indexing
Thymus Gland (1966-1976); Parathyroid Glands (1966-1976)
History note
91(77); was see under IMMUNOLOGIC DEFICIENCY SYNDROMES 1977-90
Public note
91; was see under IMMUNOLOGIC DEFICIENCY SYNDROMES 1977-90

C Diseases
C05.660.207.103 22q11 Deletion Syndrome 2
C05.660.207.103.500 DiGeorge Syndrome 43
C14.240.400 Heart Defects, Congenital 1 563
C14.240.400.021 22q11 Deletion Syndrome 2
C14.240.400.021.500 DiGeorge Syndrome 43
C14.280 Heart Diseases 2 874
C14.280.400 Heart Defects, Congenital 1 563
C14.280.400.044 22q11 Deletion Syndrome 2
C14.280.400.044.500 DiGeorge Syndrome 43
C15.604.451.249 22q11 Deletion Syndrome 2
C15.604.451.249.500 DiGeorge Syndrome 43
C16.131.077.019 22q11 Deletion Syndrome 2
C16.131.077.019.500 DiGeorge Syndrome 43
C16.131.240.400 Heart Defects, Congenital 1 563
C16.131.240.400.021 22q11 Deletion Syndrome 2
C16.131.240.400.021.500 DiGeorge Syndrome 43
C16.131.260 Chromosome Disorders 260
C16.131.260.019 22q11 Deletion Syndrome 2
C16.131.260.019.500 DiGeorge Syndrome 43
C16.131.482.249 22q11 Deletion Syndrome 2
C16.131.482.249.500 DiGeorge Syndrome 43
C16.131.621.207 Craniofacial Abnormalities 82
C16.131.621.207.103 22q11 Deletion Syndrome 2
C16.131.621.207.103.500 DiGeorge Syndrome 43
C16.320.180 Chromosome Disorders 260
C16.320.180.019 22q11 Deletion Syndrome 2
C16.320.180.019.500 DiGeorge Syndrome 43
C19.642.482 Hypoparathyroidism 71
C19.642.482.500 22q11 Deletion Syndrome 2
C19.642.482.500.500 DiGeorge Syndrome 43

Chromosome 22q11.2 Deletion Syndrome, Distal Disease MeSH Browser

Chromosome 22q11.2 Microduplication Syndrome Disease MeSH Browser

Digeorge Syndrome-Velocardiofacial Syndrome Complex 2 Disease MeSH Browser

Takao VCF Syndrome Disease MeSH Browser