1234906009: 46,XX 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 (disorder)\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\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 (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\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 (disorder)\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\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 (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\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\46,XX ovotesticular disorder of sex development (disorder)
\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 (disorder)\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\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 (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Congenital malformation of genital organs (disorder)\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (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\46,XX ovotesticular disorder of sex development (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\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 (disorder)\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\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 (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\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 (disorder)\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\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 (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\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\46,XX ovotesticular disorder of sex development (disorder)
\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 (disorder)\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\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 (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\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 (disorder)\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\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 (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)

\Disease\Genetic disease\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\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\46,XX ovotesticular disorder of sex development (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\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\46,XX ovotesticular disorder of sex development (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\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 (disorder)\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\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 (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\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\46,XX ovotesticular disorder of sex development (disorder)
\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 (disorder)\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\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 (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\46,XX disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development\46,XX ovotesticular disorder of sex development (disorder)

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

5084684012 46,XX ovotesticular disorder of sex development (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5084685013 46,XX ovotesticular disorder of sex development en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

5619591000052116 ovotestikulärt tillstånd med avvikande könsutveckling, karyotyp 46, XX sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
46,XX ovotesticular disorder of sex development (disorder)	Is a	46,XX disorder of sex development	true	Inferred relationship	Some
46,XX ovotesticular disorder of sex development (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
46,XX ovotesticular disorder of sex development (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
46,XX ovotesticular disorder of sex development (disorder)	Associated morphology	Ovotestis (morphologic abnormality)	true	Inferred relationship	Some	1
46,XX ovotesticular disorder of sex development (disorder)	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	1
46,XX ovotesticular disorder of sex development (disorder)	Is a	Ovotesticular disorder of sex development	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
5084684012	46,XX ovotesticular disorder of sex development (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5084685013	46,XX ovotesticular disorder of sex development	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5619591000052116	ovotestikulärt tillstånd med avvikande könsutveckling, karyotyp 46, XX	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)