46,XX-geslachtsontwikkelingsstoornis
ovotesticulaire geslachtsontwikkelingsstoornis
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46,XX ovotesticulaire geslachtsontwikkelingsstoornis (aandoening)
46,XX ovotesticulaire geslachtsontwikkelingsstoornis
46,XX ovotesticulaire DSD
echt hermafroditisme met 46,XX-karyotype
46,XX ovotesticular disorder of sex development
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.
Id1234906009
StatusDefined
Associated morphologyovotestis
Finding siteendocriene structuur van gonade
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Global Patient Set
SNOMED CT to Orphanet simple map2138
SNOMED CT to ICD-10 extended map
TargetQ56.0
RuleTRUE
AdviceALWAYS Q56.0
CorrelationSNOMED CT source code to target map code correlation not specified