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DiGeorges syndrom
Hierarki: | ∟ ∟ ∟ DiGeorges syndrom 29 sidobegrepp∟ ∟ ∟ ∟ DiGeorges syndrom 29 sidobegrepp∟ ∟ ∟ DiGeorges syndrom 29 sidobegreppX |
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Anmärkning: | 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 21q11.2 or mutation in the TBX1 gene.
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historyNote*: | 91(77); was see under IMMUNOLOGIC DEFICIENCY SYNDROMES 1977-90
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publicMeSHNote*: | 91; was see under IMMUNOLOGIC DEFICIENCY SYNDROMES 1977-90
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activeMeSHYear*: | |
dateCreated*: | 1976-04-16X |
dateEstablished*: | 1991-01-01X |
dateRevised*: | 2005-06-30X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | MMX |
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Termer och motsvarande begrepp: | DiGeorgen oireyhtymä (fi) XKidustaskusyndrooma (fi, ersatt) Kidustaskuoireyhtymä (fi, ersatt) Tyymuksen aplasia (fi, ersatt) Kiduspussisyndrooma (fi, ersatt) Kiduspussioireyhtymä (fi, ersatt) DiGeorgen syndrooma (fi, ersatt) Kateenkorvan alymfoplasia (fi, ersatt) Kateenkorvan aplasia (fi, ersatt) DiGeorge Syndrome (en) Velo-Cardio-Facial Syndrome (en, ersatt) Hypoplasia of Thymus and Parathyroids (en, ersatt) Chromosome 22q11.2 Deletion Syndrome (en, ersatt) Alymphoplasia thymica (la-FI, ersatt) Syndroma DiGeorge (la-FI, ersatt) |
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