1234907000: Ovotesticular disorder of sex development (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\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 (disorder)\Ovotesticular disorder of sex development
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development
\Finding of trunk structure\Disorder of trunk (disorder)\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 (disorder)\Ovotesticular disorder of sex development
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development

\Disease\Genetic disease\Ovotesticular disorder of sex development
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development
\Disease\Disorder of body system\Disorder of endocrine system\Congenital anomaly of endocrine gland\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development
\Disease\Disorder of trunk (disorder)\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 (disorder)\Ovotesticular disorder of sex development
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5084688010 Ovotesticular disorder of sex development en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5084689019 Ovotesticular disorder of sex development (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

946411000195111 disturbo dello sviluppo sessuale ovotesticolare it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6499311000241119 trouble du développement sexuel ovotesticulaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ovotesticular disorder of sex development	Is a	Congenital anomaly of endocrine gonad (disorder)	true	Inferred relationship	Some
Ovotesticular disorder of sex development	Is a	Genetic disease	true	Inferred relationship	Some
Ovotesticular disorder of sex development	Occurrence	Congenital	true	Inferred relationship	Some	1
Ovotesticular disorder of sex development	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	1
Ovotesticular disorder of sex development	Associated morphology	Ovotestis (morphologic abnormality)	true	Inferred relationship	Some	1
Ovotesticular disorder of sex development	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare difference of sex development (DSD) characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.	Is a	True	Ovotesticular disorder of sex development	Inferred relationship	Some
46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by 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 tumors are frequently associated.	Is a	True	Ovotesticular disorder of sex development	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
5084688010	Ovotesticular disorder of sex development	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5084689019	Ovotesticular disorder of sex development (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
946411000195111	disturbo dello sviluppo sessuale ovotesticolare	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6499311000241119	trouble du développement sexuel ovotesticulaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module