Table 4.
SNOMED codes and linked PEDSnet concept IDs
| SNOMED Name | PEDSnet Concept ID |
|---|---|
| Difference of Sex Development (DSD) | |
| 46,XX disorder of sex development with anorectal anomalies syndrome | 37116741 |
| 46,XX disorder of sex development with skeletal anomalies syndrome | 37116740 |
| 46, XX true hermaphrodite | 4004776 |
| Ambiguous genitalia | 4062097 |
| Androgen receptor absent | 4035130 |
| Androgen resistance - infertile male | 4127074 |
| Androgen resistance syndrome | 440359 |
| Chimera 46, XX; 46, XY | 4007565 |
| Chondrodysplasia with disorder of sex development syndrome | 36715303 |
| Complete androgen insensitivity syndrome | 45770921 |
| Complete testicular feminization syndrome | 4176428 |
| Disorder of androgen receptor | 4322687 |
| Disorder of sex development with intellectual disability syndrome | 36714286 |
| Dysmorphism, short stature, deafness, disorder of sex development syndrome | 37118645 |
| Female pseudohermaphroditism | 4338827 |
| Gynandromorphism syndrome | 4048536 |
| Hermaphroditism | 4028941 |
| History of intersex surgery | 4323227 |
| Incomplete testicular feminization syndrome | 442636 |
| Indeterminate sex | 46270485 |
| Indeterminate sex and pseudohermaphroditism | 73584 |
| Intersex | 46273637 |
| Male pseudohermaphroditism | 4009631 |
| Male pseudohermaphroditism due to 5-alpha-reductase deficiency | 42538057 |
| Mixed gonadal dysgenesis | 4308443 |
| Meacham syndrome | 36716451 |
| Mosaic XO/XY | 4005274 |
| Ovotestis | 4077758 |
| Partial androgen insensitivity syndrome | 45757367 |
| Pseudohermaphroditism | 4326589 |
| Pure gonadal dysgenesis | 4316871 |
| Pure gonadal dysgenesis 46,XX | 4317840 |
| Pure gonadal dysgenesis 46,XY | 4317951 |
| Receptor-positive androgen resistance syndrome | 4289899 |
| Reifenstein syndrome | 4242435 |
| Testicular feminization | 436379 |
| Testosterone 17-beta-dehydrogenase deficiency | 4174657 |
| XX males | 4251774 |
| XY females | 4219609 |
| XY, female phenotype | 4004649 |
| XY type gonadal dysgenesis with associated anomalies syndrome | 37116728 |
| Congenital Adrenal Hyperplasia (CAH) | |
| 3 beta-Hydroxysteroid dehydrogenase deficiency | 4182535 |
| 17 alpha-Hydroxyprogesterone aldolase deficiency | 4169253 |
| Adrenogenital disorder | 196369 |
| Adrenal virilism | 4156662 |
| CAH - desmolase deficiency | 4028928 |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 37397203 |
| Cholesterol monooxygenase (side-chain cleaving) deficiency | 4195771 |
| Congenital adrenal hyperplasia | 4029573 |
| Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | 37396060 |
| Congenital lipoid adrenal hyperplasia due to STAR deficiency | 37397202 |
| Deficiency of steroid 11-beta-monooxygenase | 4051374 |
| Deficiency of steroid 17-alpha-monooxygenase | 4050764 |
| Feminization-adrenogenital syndrome | 4028925 |
| Feminizing syndrome of adrenal origin | 4150530 |
| Pseudohermaphrodite, female with adrenocortical disorder | 4035119 |
| Pseudohermaphrodite, male with adrenocortical disorder | 4035118 |
| Salt-losing congenital adrenal hyperplasia | 4029574 |
| Salt-losing congenital adrenal hyperplasia with virilism | 45757615 |
| Steroid 21-monooxygenase deficiency, salt wasting type | 4324258 |
| Virilization-adrenogenital syndrome | 4028926 |
| Virilizing syndrome of adrenal origin | 4066281 |