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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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Velocardiofacial Syndrome
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Tree Number:
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C16.131.300
C19.642.482.500
C20.673.340
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Definition English:
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Congenital syndrome characterized by a spectrum of malformations including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency and HYPOCALCEMIA. Other features include defects in the outflow tract of the HEART and craniofacial anomalies (velocardiofacial syndrome). Most cases result from a deletion of chromosome 22q11.2 or mutation in the TBX1 gene. |
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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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