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Gonaddysgenesi, 46,XY
Hierarki: | ∟ ∟ ∟ ∟ ∟ Gonaddysgenesi, 46,XY 6 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gonaddysgenesi, 46,XY 6 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gonaddysgenesi, 46,XY 6 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gonaddysgenesi, 46,XY 6 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gonaddysgenesi, 46,XY 6 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gonaddysgenesi, 46,XY 6 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ |
Bredare villkor: | ∟ ∟ ∟ ∟ ∟ Gonaddysgenesi, 46,XY ∟ ∟ ∟ ∟ ∟ ∟ Gonaddysgenesi, 46,XY ∟ ∟ ∟ ∟ ∟ Gonaddysgenesi, 46,XY ∟ ∟ ∟ ∟ ∟ Gonaddysgenesi, 46,XY ∟ ∟ ∟ ∟ ∟ ∟ Gonaddysgenesi, 46,XY ∟ ∟ ∟ ∟ ∟ Gonaddysgenesi, 46,XY |
Anmärkning: | |
Anmärkning: | This type of gonadal defect is characterized by a female phenotype, normal to tall stature, bilateral streak or dysgenetic gonads, and a 46,XY karyotype. This XY gonadal dysgenesis is a heterogenous condition with variant forms resulting from a structural abnormality on Y chromosome, a mutation in SRY gene or a mutation in autosomal genes. The syndrome is sometimes called "pure gonadal dysgenesis," but this designation may also refer to gonadal dysgenesis with a 46,XX karyotype (GONADAL DYSGENESIS, 46,XX).
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historyNote*: | 91(80); was see under GONADAL DYSGENESIS 1980-90
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publicMeSHNote*: | 91; was see under GONADAL DYSGENESIS 1980-90
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activeMeSHYear*: | 2007X |
dateCreated*: | 1978-12-21X |
dateEstablished*: | 1991-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | AEPX |
Typ: | |
Samordna villkor: | |
URI: | |
Termer och motsvarande begrepp: | Gonadidysgenesia 46,XY (fi) XSukupuolirauhasten kehityshäiriö, 46,XY (fi, ersatt) Sukurauhasten kehityshäiriö, 46,XY (fi, ersatt) Gonadien dysgeneesi, 46,XY (fi, ersatt) Gonadidysgeneesi 46,XY (fi, ersatt) Gonadaalinen dysgeneesi, 46,XY (fi, ersatt) Gonadal Dysgenesis, 46,XY (en) Swyer Syndrome (en, ersatt) Gonadal Dysgenesis, 46, XY (en, ersatt) |
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