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XY Gonadal agenesis syndrome

Translation of "xy gonadal agenesis syndrome " (English → French) :

XY Gonadal agenesis syndrome

anorchidie congénitale isolée
SNOMEDCT-BE (disorder) / 53599007
SNOMEDCT-BE (disorder) / 53599007


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.

syndrome génito-palato-cardiaque
SNOMEDCT-BE (disorder) / 773749003
SNOMEDCT-BE (disorder) / 773749003


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

syndrome de chondrodysplasie-anomalie du développement sexuel
SNOMEDCT-BE (bell-shaped thorax, m / 720851007
SNOMEDCT-BE (disorder) / 720851007




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'xy gonadal agenesis syndrome'

Date index:2021-06-22 -

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