46,XX disorder of sex development
Ovotesticular disorder of sex development
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46,XX ovotesticular disorder of sex development (disorder)
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 siteGonadal endocrine structure
OccurrenceCongenital
Pathological processPathological developmental process
ICD-10 complex map reference set
TargetQ56.0
RuleTRUE
AdviceALWAYS Q56.0
CorrelationSNOMED CT source code to target map code correlation not specified