46,XY-geslachtsontwikkelingsstoornis
ovotesticulaire geslachtsontwikkelingsstoornis
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46,XY ovotesticulaire geslachtsontwikkelingsstoornis (aandoening)
46,XY ovotesticulaire geslachtsontwikkelingsstoornis
46,XY ovotesticulaire DSD
46,XY ovotesticular disorder of sex development
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.
Id763683004
StatusDefined
Associated morphologyovotestis
Finding siteendocriene structuur van gonade
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ56.0
TermHermafroditisme, niet elders geclassificeerd
SNOMED CT to Orphanet simple map325345
SNOMED CT to ICD-10 extended map
TargetQ56.0
RuleTRUE
AdviceALWAYS Q56.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified