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Gonadal Dysgenesis, 46,XY
Hierarchy: | ∟ ∟ ∟ ∟ ∟ Gonadal Dysgenesis, 46,XY 6 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gonadal Dysgenesis, 46,XY 6 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gonadal Dysgenesis, 46,XY 6 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gonadal Dysgenesis, 46,XY 6 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gonadal Dysgenesis, 46,XY 6 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gonadal Dysgenesis, 46,XY 6 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ |
Broader terms: | ∟ ∟ ∟ ∟ ∟ Gonadal Dysgenesis, 46,XY ∟ ∟ ∟ ∟ ∟ ∟ Gonadal Dysgenesis, 46,XY ∟ ∟ ∟ ∟ ∟ Gonadal Dysgenesis, 46,XY ∟ ∟ ∟ ∟ ∟ Gonadal Dysgenesis, 46,XY ∟ ∟ ∟ ∟ ∟ ∟ Gonadal Dysgenesis, 46,XY ∟ ∟ ∟ ∟ ∟ Gonadal Dysgenesis, 46,XY |
History note: | |
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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Scope note: | 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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activeMeSHYear*: | 2007X |
dateCreated*: | 1978-12-21X |
dateEstablished*: | 1991-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | AEPX |
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Labels and equivalent concepts: | Gonadidysgenesia 46,XY (fi) XSukupuolirauhasten kehityshäiriö, 46,XY (fi, replaced) Sukurauhasten kehityshäiriö, 46,XY (fi, replaced) Gonadien dysgeneesi, 46,XY (fi, replaced) Gonadidysgeneesi 46,XY (fi, replaced) Gonadaalinen dysgeneesi, 46,XY (fi, replaced) Gonaddysgenesi, 46,XY (sv) Swyer Syndrome (en, replaced) Gonadal Dysgenesis, 46, XY (en, replaced) |
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