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763683004: 46,XY 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
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
5404139011 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404140013 46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterised 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 tumours are frequently associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
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
5404139011 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404140013 46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterised 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 tumours are frequently associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3440421001000119 Störung der Geschlechtsentwicklung 46,XY, ovotestikuläre de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
892941000172113 ADS ovotesticulaire 46,XY fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
930021000172115 anomalies ovotesticulaires du développement sexuel 46,XY fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
892941000172113 ADS ovotesticulaire 46,XY fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
930021000172115 anomalies ovotesticulaires du développement sexuel 46,XY fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3440421001000119 Störung der Geschlechtsentwicklung 46,XY, ovotestikuläre de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

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 Existential restriction modifier (core metadata concept)
46,XY ovotesticular disorder of sex development Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
46,XY ovotesticular disorder of sex development Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
46,XY ovotesticular disorder of sex development Finding site Genital structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
46,XY ovotesticular disorder of sex development Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
46,XY ovotesticular disorder of sex development Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
46,XY ovotesticular disorder of sex development Is a Congenital malformation of genital organs false Inferred relationship Existential restriction modifier (core metadata concept)
46,XY ovotesticular disorder of sex development Is a 46,XY disorder of sex development true Inferred relationship Existential restriction modifier (core metadata concept)
46,XY ovotesticular disorder of sex development Associated morphology Ovotestis (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
46,XY ovotesticular disorder of sex development Finding site Gonadal endocrine structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
46,XY ovotesticular disorder of sex development Is a Ovotesticular disorder of sex development true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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