| 46,XY-geslachtsontwikkelingsstoornis door geïsoleerde deficiëntie van 17,20-lyase (aandoening) | | 46,XY-geslachtsontwikkelingsstoornis door geïsoleerde deficiëntie van 17,20-lyase | | 46,XY-stoornis in geslachtelijke ontwikkeling door geïsoleerde 17,20-lyasedeficiëntie
| | 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. |
| | Id | 1231281009 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 90796 |
| SNOMED CT to ICD-10 extended map | | Target | E29.1 | | Rule | TRUE | | Advice | ALWAYS E29.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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