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DeCS
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Descriptor English:
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DiGeorge Syndrome
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Descriptor Spanish:
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Síndrome de DiGeorge
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Descriptor Portuguese:
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Síndrome de DiGeorge
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Synonyms English:
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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
Autosomal Dominant Opitz G Bbb Syndrome
Deletion Syndrome, 22q11.2
Syndrome, DiGeorge
Syndrome, Sedlackova
Syndrome, Shprintzen
Syndrome, VCF
Syndrome, Velo-Cardio-Facial
Syndrome, Velocardiofacial
Velo Cardio Facial Syndrome
Velocardiofacial Syndrome
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Tree Number:
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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
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Definition English:
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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:
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Claudin-5
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History Note English:
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91(77); was see under IMMUNOLOGIC DEFICIENCY SYNDROMES 1977-90
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Allowable Qualifiers English:
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Record Number:
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4100
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Unique Identifier:
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D004062
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Occurrence in VHL:
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Similar:
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DeCS CID-10 SciELO LILACS LIS
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