1234906009: 46,XX ovotesticular disorder of sex development (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development
• \Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development
• \Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development
• \Disease\Genetic disease\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development
• \Disease\Disorder of body system\Disorder of endocrine system\Congenital anomaly of endocrine gland\Congenital anomaly of endocrine gonad\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development
• \Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development
• \Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development
• \Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development
• \Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development
• \Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development
• \Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of endocrine gland\Congenital anomaly of endocrine gonad\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development
• \Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development
• \Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of endocrine gland\Congenital anomaly of endocrine gonad\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development

Status: current, Defined. Date: 31-Jul 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5084684012	46,XX ovotesticular disorder of sex development (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
5084685013	46,XX ovotesticular disorder of sex development	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5084686014	A rare disorder of sex development (DSD) characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype. The cause is not elucidated for the majority of cases. A small proportion of individuals have a translocation of a Y chromosome fragment, including the SRY gene, to an X or another chromosome but most individuals (65%) are SRY negative. Some individuals may have a chromosomal mosaicism or a chimerism that results in the presence of Y chromosome containing cells in the gonad. The majority of cases arise as de novo gene variants.	en	Definition	Active	Case sensitive	SNOMED CT core
5084687017	A rare disorder of sex development (DSD) characterised by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype. The cause is not elucidated for the majority of cases. A small proportion of individuals have a translocation of a Y chromosome fragment, including the SRY gene, to an X or another chromosome but most individuals (65%) are SRY negative. Some individuals may have a chromosomal mosaicism or a chimerism that results in the presence of Y chromosome containing cells in the gonad. The majority of cases arise as de novo gene variants.	en	Definition	Active	Case sensitive	SNOMED CT core

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