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DiGeorge Syndrome
Hierarchy: | ∟ ∟ ∟ DiGeorge Syndrome 29 coordinate concepts∟ ∟ ∟ ∟ DiGeorge Syndrome 29 coordinate concepts∟ ∟ ∟ DiGeorge Syndrome 29 coordinate conceptsX |
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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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Scope note: | 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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activeMeSHYear*: | |
dateCreated*: | 1976-04-16X |
dateEstablished*: | 1991-01-01X |
dateRevised*: | 2005-06-30X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | MMX |
Type: | |
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Labels and equivalent concepts: | DiGeorgen oireyhtymä (fi) XKidustaskusyndrooma (fi, replaced) Kidustaskuoireyhtymä (fi, replaced) Tyymuksen aplasia (fi, replaced) Kiduspussisyndrooma (fi, replaced) Kiduspussioireyhtymä (fi, replaced) DiGeorgen syndrooma (fi, replaced) Kateenkorvan alymfoplasia (fi, replaced) Kateenkorvan aplasia (fi, replaced) DiGeorges syndrom (sv) Velo-Cardio-Facial Syndrome (en, replaced) Hypoplasia of Thymus and Parathyroids (en, replaced) Chromosome 22q11.2 Deletion Syndrome (en, replaced) Alymphoplasia thymica (la-FI, replaced) Syndroma DiGeorge (la-FI, replaced) |
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