46,XY disorder of sex development
Autosomal recessive hereditary disorder
Developmental hereditary disorder
Reproductive system hereditary disorder
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46,XY disorder of sex development due to isolated 17,20-lyase deficiency (disorder)
46,XY disorder of sex development due to isolated 17,20-lyase deficiency
A rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and has characteristics of ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol and low basal and stimulated androgen levels.
Id1231281009
StatusPrimitive
Due to17 alpha-Hydroxyprogesterone aldolase deficiency
Associated morphologyMorphologically abnormal structure
Finding siteGenital structure
OccurrenceCongenital
Pathological processPathological developmental process
ICD-10 complex map reference set
TargetE29.1
RuleTRUE
AdviceALWAYS E29.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified