| Source | Code | Name | Case count | Share of cases (%) |
|---|---|---|---|---|
| OUTPAT | OUTPAT_ICD10(Q998) | Other specified chromosome abnormalities | 71 | |
| OUTPAT | OUTPAT_ICD10(Q950) | Balanced translocation and insertion in normal individual | 66 | |
| OUTPAT | OUTPAT_ICD10(Q909) | Down's syndrome, unspecified | 61 | |
| OUTPAT | OUTPAT_ICD10(Q900) | Trisomy 21, meiotic nondisjunction | 45 | |
| INPAT | INPAT_ICD10(Q909) | Down's syndrome, unspecified | 43 | |
| INPAT | INPAT_ICD10(Q900) | Trisomy 21, meiotic nondisjunction | 37 | |
| OUTPAT | OUTPAT_ICD10(Q938) | Other deletions from the autosomes | 34 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q90) | Down's syndrome. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 26 | |
| INPAT | INPAT_ICD10(Q998) | Other specified chromosome abnormalities | 25 | |
| OUTPAT | OUTPAT_ICD10(Q935) | Other deletions of part of a chromosome | 24 | |
| OUTPAT | OUTPAT_ICD10(Q992) | Fragile X chromosome | 21 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q909) | Down's syndrome, unspecified. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 20 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q998) | Other specified chromosome abnormalities. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 17 | |
| OUTPAT | OUTPAT_ICD10(Q980) | Klinefelter's syndrome karyotype 47,XXY | 16 | |
| OUTPAT | OUTPAT_ICD10(Q985) | Karyotype 47,XYY | 14 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q900) | Trisomy 21, meiotic nondisjunction. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 13 | |
| INPAT | INPAT_ICD10(Q935) | Other deletions of part of a chromosome | 12 | |
| INPAT | INPAT_ICD10(Q938) | Other deletions from the autosomes | 12 | |
| OUTPAT | OUTPAT_ICD10(Q988) | Other specified sex chromosome abnormalities, male phenotype | 12 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q938) | Other deletions from the autosomes. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 12 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q992) | Fragile X chromosome. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 12 | |
| OUTPAT | OUTPAT_ICD10(Q963) | Mosaicism, 45,X/46,XX or XY | 11 | |
| OUTPAT | OUTPAT_ICD10(Q951) | Chromosome inversion in normal individual | 10 | |
| OUTPAT | OUTPAT_ICD10(Q968) | Other variants of Turner's syndrome | 10 | |
| OUTPAT | OUTPAT_ICD10(Q958) | Other balanced rearrangements and structural markers | 9 | |
| OUTPAT | OUTPAT_ICD10(Q970) | Karyotype 47,XXX | 9 | |
| INPAT | INPAT_ICD10(Q992) | Fragile X chromosome | 8 | |
| OUTPAT | OUTPAT_ICD10(Q910) | Trisomy 18, meiotic nondisjunction | 8 | |
| OUTPAT | OUTPAT_ICD10(Q952) | Balanced autosomal rearrangement in abnormal individual | 8 | |
| OUTPAT | OUTPAT_ICD10(Q984) | Klinefelter's syndrome, unspecified | 8 | |
| DEATH | DEATH_ICD10(Q909) | Down's syndrome, unspecified | 7 | |
| INPAT | INPAT_ICD10(Q950) | Balanced translocation and insertion in normal individual | 7 | |
| OUTPAT | OUTPAT_ICD10(Q901) | Trisomy 21, mosaicism (mitotic nondisjunction) | 7 | |
| OUTPAT | OUTPAT_ICD10(Q923) | Minor partial trisomy | 7 | |
| OUTPAT | OUTPAT_ICD10(Q928) | Other specified trisomies and partial trisomies of autosomes | 7 | |
| OUTPAT | OUTPAT_ICD10(Q972) | Mosaicism, lines with various numbers of X chromosomes | 7 | |
| OUTPAT | OUTPAT_ICD10(Q999) | Chromosomal abnormality, unspecified | 7 | |
| INPAT | INPAT_ICD10(Q980) | Klinefelter's syndrome karyotype 47,XXY | 6 | |
| INPAT | INPAT_ICD10(Q985) | Karyotype 47,XYY | 6 | |
| OUTPAT | OUTPAT_ICD10(Q902) | Trisomy 21, translocation | 6 | |
| OUTPAT | OUTPAT_ICD10(Q930) | Whole chromosome monosomy, meiotic nondisjunction | 6 | |
| OUTPAT | OUTPAT_ICD10(Q960) | Karyotype 45,X | 6 | |
| OUTPAT | OUTPAT_ICD10(Q986) | Male with structurally abnormal sex chromosome | 6 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q984) | Klinefelter's syndrome, unspecified. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 6 | |
| INPAT | INPAT_ICD10(Q970) | Karyotype 47,XXX | 5 | |
| OUTPAT | OUTPAT_ICD10(Q90) | Down's syndrome | 5 | |
| OUTPAT | OUTPAT_ICD10(Q925) | Duplications with other complex rearrangements | 5 | |
| OUTPAT | OUTPAT_ICD10(Q991) | 46,XX true hermaphrodite | 5 | |
| 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! | 5 |