763683004: 46,XY 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,XY disorder of sex development\46,XY 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,XY 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,XY disorder of sex development\46,XY 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,XY 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,XY 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,XY disorder of sex development\46,XY 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,XY 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,XY disorder of sex development\46,XY 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,XY 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,XY 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,XY disorder of sex development\46,XY 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,XY 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,XY 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,XY disorder of sex development\46,XY 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,XY 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,XY disorder of sex development\46,XY 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,XY 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,XY disorder of sex development\46,XY 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,XY 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,XY 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,XY disorder of sex development\46,XY 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,XY 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,XY disorder of sex development\46,XY 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,XY ovotesticular disorder of sex development

\Disease\Genetic disease\Ovotesticular disorder of sex development\46,XY 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,XY 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,XY 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,XY disorder of sex development\46,XY 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,XY 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,XY ovotesticular disorder of sex development
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XY disorder of sex development\46,XY 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,XY 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,XY disorder of sex development\46,XY 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,XY 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,XY disorder of sex development\46,XY 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,XY 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,XY 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,XY disorder of sex development\46,XY 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,XY 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,XY disorder of sex development\46,XY 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,XY 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,XY disorder of sex development\46,XY 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,XY 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,XY disorder of sex development\46,XY 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,XY 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,XY 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,XY disorder of sex development\46,XY 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,XY 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,XY disorder of sex development\46,XY 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,XY 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,XY ovotesticular disorder of sex development

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

Descriptions:

Id Description Lang Type Status Case? Module

3643273011 46,XY ovotesticular disorder of sex development en Synonym Active Initial character case insensitive SNOMED CT core

3643274017 46,XY ovotesticular disorder of sex development (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3643275016 A rare genetic disorder of sex development with either the coexistence of both male and female reproductive gonads or, more frequently, the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal neoplasm are frequently associated. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
46,XY ovotesticular disorder of sex development	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
46,XY ovotesticular disorder of sex development	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	1
46,XY ovotesticular disorder of sex development	Is a	Congenital malformation of genital organs	false	Inferred relationship	Some
46,XY ovotesticular disorder of sex development	Is a	46,XY disorder of sex development	true	Inferred relationship	Some
46,XY ovotesticular disorder of sex development	Associated morphology	Ovotestis	true	Inferred relationship	Some	1
46,XY ovotesticular disorder of sex development	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	1
46,XY ovotesticular disorder of sex development	Is a	Ovotesticular disorder of sex development	true	Inferred relationship	Some
46,XY ovotesticular disorder of sex development	Is a	Indeterminate sex and pseudohermaphroditism	false	Inferred relationship	Some
46,XY ovotesticular disorder of sex development	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	1
46,XY ovotesticular disorder of sex development	Occurrence	Congenital	true	Inferred relationship	Some	1
46,XY ovotesticular disorder of sex development	Finding site	Genital structure	false	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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Id	Description	Lang	Type	Status	Case?	Module
3643273011	46,XY ovotesticular disorder of sex development	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3643274017	46,XY ovotesticular disorder of sex development (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3643275016	A rare genetic disorder of sex development with either the coexistence of both male and female reproductive gonads or, more frequently, the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal neoplasm are frequently associated.	en	Definition	Active	Case sensitive	SNOMED CT core