| Source | Code | Name | Case count | Share of cases (%) |
|---|---|---|---|---|
| OUTPAT | OUTPAT_ICD10(Q998) | Other specified chromosome abnormalities | 96 | |
| OUTPAT | OUTPAT_ICD10(Q950) | Balanced translocation and insertion in normal individual | 85 | |
| OUTPAT | OUTPAT_ICD10(Q909) | Down's syndrome, unspecified | 72 | |
| OUTPAT | OUTPAT_ICD10(Q980) | Klinefelter's syndrome karyotype 47,XXY | 63 | |
| OUTPAT | OUTPAT_ICD10(Q900) | Trisomy 21, meiotic nondisjunction | 59 | |
| INPAT | INPAT_ICD10(Q909) | Down's syndrome, unspecified | 51 | |
| INPAT | INPAT_ICD10(Q900) | Trisomy 21, meiotic nondisjunction | 43 | |
| OUTPAT | OUTPAT_ICD10(Q938) | Other deletions from the autosomes | 38 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q90) | Down's syndrome. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 31 | |
| OUTPAT | OUTPAT_ICD10(Q984) | Klinefelter's syndrome, unspecified | 28 | |
| OUTPAT | OUTPAT_ICD10(Q935) | Other deletions of part of a chromosome | 27 | |
| INPAT | INPAT_ICD10(Q998) | Other specified chromosome abnormalities | 26 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q909) | Down's syndrome, unspecified. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 25 | |
| OUTPAT | OUTPAT_ICD10(Q992) | Fragile X chromosome | 24 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q998) | Other specified chromosome abnormalities. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 23 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q980) | Klinefelter's syndrome karyotype 47,XXY. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 22 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q984) | Klinefelter's syndrome, unspecified. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 20 | |
| INPAT | INPAT_ICD10(Q980) | Klinefelter's syndrome karyotype 47,XXY | 18 | |
| OUTPAT | OUTPAT_ICD10(Q985) | Karyotype 47,XYY | 18 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q900) | Trisomy 21, meiotic nondisjunction. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 16 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q992) | Fragile X chromosome. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 14 | |
| OUTPAT | OUTPAT_ICD10(Q951) | Chromosome inversion in normal individual | 13 | |
| OUTPAT | OUTPAT_ICD10(Q963) | Mosaicism, 45,X/46,XX or XY | 13 | |
| OUTPAT | OUTPAT_ICD10(Q988) | Other specified sex chromosome abnormalities, male phenotype | 13 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q938) | Other deletions from the autosomes. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 13 | |
| INPAT | INPAT_ICD10(Q938) | Other deletions from the autosomes | 12 | |
| INPAT | INPAT_ICD10(Q935) | Other deletions of part of a chromosome | 11 | |
| OUTPAT | OUTPAT_ICD10(Q968) | Other variants of Turner's syndrome | 11 | |
| OUTPAT | OUTPAT_ICD10(Q970) | Karyotype 47,XXX | 11 | |
| INPAT | INPAT_ICD10(Q950) | Balanced translocation and insertion in normal individual | 10 | |
| OUTPAT | OUTPAT_ICD10(Q958) | Other balanced rearrangements and structural markers | 10 | |
| OUTPAT | OUTPAT_ICD10(Q986) | Male with structurally abnormal sex chromosome | 10 | |
| DEATH | DEATH_ICD10(Q909) | Down's syndrome, unspecified | 9 | |
| INPAT | INPAT_ICD10(Q992) | Fragile X chromosome | 9 | |
| OUTPAT | OUTPAT_ICD10(Q901) | Trisomy 21, mosaicism (mitotic nondisjunction) | 9 | |
| INPAT | INPAT_ICD10(Q984) | Klinefelter's syndrome, unspecified | 8 | |
| OUTPAT | OUTPAT_ICD10(Q90) | Down's syndrome | 8 | |
| OUTPAT | OUTPAT_ICD10(Q910) | Trisomy 18, meiotic nondisjunction | 8 | |
| OUTPAT | OUTPAT_ICD10(Q923) | Minor partial trisomy | 8 | |
| OUTPAT | OUTPAT_ICD10(Q928) | Other specified trisomies and partial trisomies of autosomes | 8 | |
| OUTPAT | OUTPAT_ICD10(Q952) | Balanced autosomal rearrangement in abnormal individual | 8 | |
| OUTPAT | OUTPAT_ICD10(Q960) | Karyotype 45,X | 8 | |
| OUTPAT | OUTPAT_ICD10(Q999) | Chromosomal abnormality, unspecified | 8 | |
| INPAT | INPAT_ICD10(Q985) | Karyotype 47,XYY | 7 | |
| OUTPAT | OUTPAT_ICD10(Q902) | Trisomy 21, translocation | 7 | |
| OUTPAT | OUTPAT_ICD10(Q930) | Whole chromosome monosomy, meiotic nondisjunction | 7 | |
| OUTPAT | OUTPAT_ICD10(Q972) | Mosaicism, lines with various numbers of X chromosomes | 7 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q935) | Other deletions of part of a chromosome. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 7 | |
| INPAT | INPAT_ICD10(Q970) | Karyotype 47,XXX | 6 | |
| OUTPAT | OUTPAT_ICD10(Q911) | Trisomy 18, mosaicism (mitotic nondisjunction) | 6 | |
| OUTPAT | OUTPAT_ICD10(Q926) | Extra marker chromosomes | 6 | |
| OUTPAT | OUTPAT_ICD10(Q969) | Turner's syndrome, unspecified | 6 | |
| INPAT | INPAT_ICD10(Q901) | Trisomy 21, mosaicism (mitotic nondisjunction) | 5 | |
| INPAT | INPAT_ICD10(Q902) | Trisomy 21, translocation | 5 | |
| INPAT | INPAT_ICD10(Q913) | Edwards syndrome, unspecified | 5 | |
| OUTPAT | OUTPAT_ICD10(Q912) | Trisomy 18, translocation | 5 | |
| OUTPAT | OUTPAT_ICD10(Q925) | Duplications with other complex rearrangements | 5 | |
| OUTPAT | OUTPAT_ICD10(Q978) | Other specified sex chromosome abnormalities, female phenotype | 5 | |
| OUTPAT | OUTPAT_ICD10(Q981) | Klinefelter's syndrome, male with more than two X chromosomes | 5 | |
| OUTPAT | OUTPAT_ICD10(Q991) | 46,XX true hermaphrodite | 5 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q985) | Karyotype 47,XYY. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 5 |