Concept information
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Congenital Abnormalities
Urogenital Abnormalities
Disorders of Sex Development
Gonadal Dysgenesis
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Female Urogenital Diseases
Urogenital Abnormalities
Disorders of Sex Development
Gonadal Dysgenesis
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Male Urogenital Diseases
Urogenital Abnormalities
Disorders of Sex Development
Gonadal Dysgenesis
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Genetic Diseases, Inborn
Chromosome Disorders
Sex Chromosome Disorders
Sex Chromosome Disorders of Sex Development
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Congenital Abnormalities
Chromosome Disorders
Sex Chromosome Disorders
Sex Chromosome Disorders of Sex Development
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Congenital Abnormalities
Urogenital Abnormalities
Disorders of Sex Development
Sex Chromosome Disorders of Sex Development
...
Female Urogenital Diseases
Urogenital Abnormalities
Disorders of Sex Development
Sex Chromosome Disorders of Sex Development
Preferred term
Gonadal Dysgenesis, Mixed
Type
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Topical Descriptor
Broader concept
Entry terms
- Mixed Gonadal Dysgenesis
Scope note
- A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,XX; 45,X/46,XX/47,XXX; 46,XXp-; 45,X/46,XY; 45,X/47,XYY; 46,XYpi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,XX or 46,XY constitution.
History note
- 91(80); was see under GONADAL DYSGENESIS 1980-90
In other languages
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Finnish
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gonadaalinen sekamuotoinen dysgeneesi
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gonadien sekamuotoinen dysgeneesi
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sekamuotoinen gonadaalinen dysgeneesi
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sekamuotoinen gonadidysgeneesi
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sekamuotoinen gonadien dysgeneesi
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sekamuotoinen sukupuolirauhasten kehityshäiriö
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sekamuotoinen sukurauhasten kehityshäiriö
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sukupuolirauhasten sekamuotoinen kehityshäiriö
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sukurauhasten sekamuotoinen kehityshäiriö
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Swedish
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Blandad dysgenesi
URI
http://www.yso.fi/onto/mesh/D006060
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