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Gonadal dysgenesis XY type with associated anomalies

Translation of "xy partial gonadal dysgenesis " (English → French) :

46,XY partial gonadal dysgenesis
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dysgénésie gonadique partielle 46,XY
SNOMEDCT-BE (disorder) / 725045004
SNOMEDCT-BE (disorder) / 725045004
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An extremely rare disorder of sex development, reported in only two siblings to date. The syndrome has clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalised chondrodysplasia (bell-shaped thorax, m
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syndrome de chondrodysplasie-anomalie du développement sexuel
SNOMEDCT-BE (bell-shaped thorax, m / 720851007
SNOMEDCT-BE (disorder) / 720851007
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https://browser.ihtsdotools.or (...) [HTML]
46,XX with streak gonads 46,XY with streak gonads Pure gonadal dysgenesis
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46,XX avec ovaire en bandelettes 46,XY avec ovaire en bandelettes Dysgénésie gonadique pure
WORLD HEALTH ORGANIZATION ICD-10: Q99.1
WORLD HEALTH ORGANIZATION ICD-10: Q99.1
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https://icd.who.int/browse10/2 (...) [HTML]
Gonadal dysgenesis XY type with associated anomalies
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syndrome de dysgénésie gonadique-anomalies multiples
SNOMEDCT-BE (disorder) / 733605002
SNOMEDCT-BE (disorder) / 733605002
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https://browser.ihtsdotools.or (...) [HTML]
A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.
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syndrome génito-palato-cardiaque
SNOMEDCT-BE (disorder) / 773749003
SNOMEDCT-BE (disorder) / 773749003
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https://browser.ihtsdotools.or (...) [HTML]


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'xy partial gonadal dysgenesis'

Date index:2022-06-18 -

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