763683004: 46,XY ovotesticulaire geslachtsontwikkelingsstoornis (aandoening)

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,XY disorder of sex development\46,XY ovotesticular disorder of sex development
\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,XY 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 (disorder)\46,XY disorder of sex development\46,XY 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 (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development\46,XY 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\46,XY 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 (disorder)\46,XY disorder of sex development\46,XY 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 (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development\46,XY ovotesticular disorder of sex development
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Congenital malformation of genital organs (disorder)\46,XY disorder of sex development\46,XY ovotesticular disorder of sex development
\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,XY ovotesticular disorder of sex development
\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,XY ovotesticular disorder of sex development
\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,XY disorder of sex development\46,XY ovotesticular disorder of sex development
\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,XY ovotesticular disorder of sex development
\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,XY ovotesticular disorder of sex development
\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,XY disorder of sex development\46,XY ovotesticular disorder of sex development
\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,XY 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 (disorder)\46,XY disorder of sex development\46,XY 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 (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development\46,XY 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 (disorder)\46,XY disorder of sex development\46,XY 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 (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development\46,XY 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\46,XY 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 (disorder)\46,XY disorder of sex development\46,XY 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 (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development\46,XY 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 (disorder)\46,XY disorder of sex development\46,XY 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 (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\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 foetus and/or newborn\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,XY disorder of sex development\46,XY ovotesticular disorder of sex development
\Disease\Disorder of foetus and/or newborn\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,XY ovotesticular disorder of sex development
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\46,XY disorder of sex development\46,XY ovotesticular disorder of sex development
\Disease\Disorder of foetus and/or newborn\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,XY ovotesticular disorder of sex development
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of endocrine gonad (disorder)\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 (disorder)\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 (disorder)\Ovotesticular disorder of sex development\46,XY 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 (disorder)\46,XY disorder of sex development\46,XY 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 (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development\46,XY 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\46,XY ovotesticular disorder of sex development
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\46,XY disorder of sex development\46,XY ovotesticular disorder of sex development
\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,XY 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 (disorder)\46,XY disorder of sex development\46,XY 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 (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development\46,XY 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 (disorder)\46,XY disorder of sex development\46,XY 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 (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development\46,XY 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\46,XY 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 (disorder)\46,XY disorder of sex development\46,XY 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 (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development\46,XY 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 (disorder)\46,XY disorder of sex development\46,XY 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 (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development\46,XY ovotesticular disorder of sex development
\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,XY disorder of sex development\46,XY ovotesticular disorder of sex development
\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,XY 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 (disorder)\46,XY disorder of sex development\46,XY 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 (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Ovotesticular disorder of sex development\46,XY 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\46,XY 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

3643273011 46,XY ovotesticular disorder of sex development en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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

8224561000146111 46,XY ovotesticulaire geslachtsontwikkelingsstoornis nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8224571000146117 46,XY ovotesticulaire DSD nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8224581000146115 46,XY ovotesticulaire geslachtsontwikkelingsstoornis (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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 Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
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	gebrekkige ontwikkeling (afwijkende morfologie)	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
46,XY ovotesticular disorder of sex development	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
46,XY ovotesticular disorder of sex development	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	1
46,XY ovotesticular disorder of sex development	Is a	Congenital malformation of genital organs (disorder)	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 (morphologic abnormality)	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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets