| |
| PDX Collection 1537 |
| E7871 | Barth syndrome |
| E7872 | Smith-Lemli-Opitz syndrome |
| Q872 | Congenital malformation syndromes predominantly involving limbs |
| Q873 | Congenital malformation syndromes involving early overgrowth |
| Q8740 | Marfan syndrome, unspecified |
| Q87410 | Marfan syndrome with aortic dilation |
| Q87418 | Marfan syndrome with other cardiovascular manifestations |
| Q8742 | Marfan syndrome with ocular manifestations |
| Q8743 | Marfan syndrome with skeletal manifestation |
| Q875 | Other congenital malformation syndromes with other skeletal changes |
| Q8781 | Alport syndrome |
| Q8782 | Arterial tortuosity syndrome |
| Q8783 | Bardet-Biedl syndrome |
| Q8784 | Laurence-Moon syndrome |
| Q8785 | MED13L syndrome |
| Q8786 | Kleefstra syndrome |
| Q8787 | Hao-Fountain Syndrome |
| Q8789 | Other specified congenital malformation syndromes, not elsewhere classified |
| Q8981 | Kabuki syndrome |
| Q8989 | Other specified congenital malformations |
| Q992 | Fragile X chromosome |
| Q99811 | Usher syndrome, type 1 |
| Q99812 | Usher syndrome, type 2 |
| Q99813 | Usher syndrome, type 3 |
| Q99818 | Other Usher syndrome |
| Q99819 | Usher syndrome, unspecified |
| QA00101 | SCN2A-related neurodevelopmental disorder |
| QA00102 | CACNA1A-related neurodevelopmental disorder |
| QA00109 | Neurodevelopmental disorder related to pathogenic variant in other ion channel gene |
| QA0011 | Neurodevelopmental disorders, related to pathogenic variants in glutamate receptor genes |
| QA0012 | Neurodevelopmental disorders, related to pathogenic variants in other receptor genes |
| QA00131 | SLC6A1-related disorder |
| QA00139 | Neurodevelopmental disorder, related to pathogenic variant in other transporter or solute carrier gene |
| QA00141 | Syntaxin-binding protein 1-related disorder |
| QA00142 | DLG4-related synaptopathy |
| QA00149 | Neurodevelopmental disorder, related to pathogenic variant in other synapse related gene |
| QA00151 | FOXG1 syndrome |
| QA00159 | Neurodevelopmental disorder, related to other genes associated with transcription and gene expression |
| QA08 | Other neurodevelopmental disorders related to pathogenic variants in other specific genes |
| |
| PDX Collection 1538 |
| E7871 | Barth syndrome |
| E7872 | Smith-Lemli-Opitz syndrome |
| Q8581 | PTEN hamartoma tumor syndrome |
| Q8582 | Other Cowden syndrome |
| Q8583 | Von Hippel-Lindau syndrome |
| Q8589 | Other phakomatoses, not elsewhere classified |
| Q859 | Phakomatosis, unspecified |
| Q8711 | Prader-Willi syndrome |
| Q8719 | Other congenital malformation syndromes predominantly associated with short stature |
| Q872 | Congenital malformation syndromes predominantly involving limbs |
| Q873 | Congenital malformation syndromes involving early overgrowth |
| Q8740 | Marfan syndrome, unspecified |
| Q87410 | Marfan syndrome with aortic dilation |
| Q87418 | Marfan syndrome with other cardiovascular manifestations |
| Q8742 | Marfan syndrome with ocular manifestations |
| Q8743 | Marfan syndrome with skeletal manifestation |
| Q875 | Other congenital malformation syndromes with other skeletal changes |
| Q8781 | Alport syndrome |
| Q8782 | Arterial tortuosity syndrome |
| Q8783 | Bardet-Biedl syndrome |
| Q8784 | Laurence-Moon syndrome |
| Q8785 | MED13L syndrome |
| Q8786 | Kleefstra syndrome |
| Q8787 | Hao-Fountain Syndrome |
| Q8789 | Other specified congenital malformation syndromes, not elsewhere classified |
| Q897 | Multiple congenital malformations, not elsewhere classified |
| Q8981 | Kabuki syndrome |
| Q8989 | Other specified congenital malformations |
| Q899 | Congenital malformation, unspecified |
| Q992 | Fragile X chromosome |
| Q99811 | Usher syndrome, type 1 |
| Q99812 | Usher syndrome, type 2 |
| Q99813 | Usher syndrome, type 3 |
| Q99818 | Other Usher syndrome |
| Q99819 | Usher syndrome, unspecified |
| QA00101 | SCN2A-related neurodevelopmental disorder |
| QA00102 | CACNA1A-related neurodevelopmental disorder |
| QA00109 | Neurodevelopmental disorder related to pathogenic variant in other ion channel gene |
| QA0011 | Neurodevelopmental disorders, related to pathogenic variants in glutamate receptor genes |
| QA0012 | Neurodevelopmental disorders, related to pathogenic variants in other receptor genes |
| QA00131 | SLC6A1-related disorder |
| QA00139 | Neurodevelopmental disorder, related to pathogenic variant in other transporter or solute carrier gene |
| QA00141 | Syntaxin-binding protein 1-related disorder |
| QA00142 | DLG4-related synaptopathy |
| QA00149 | Neurodevelopmental disorder, related to pathogenic variant in other synapse related gene |
| QA00151 | FOXG1 syndrome |
| QA00159 | Neurodevelopmental disorder, related to other genes associated with transcription and gene expression |
| QA08 | Other neurodevelopmental disorders related to pathogenic variants in other specific genes |
| |
| PDX Collection 1539 |
| E7871 | Barth syndrome |
| E7872 | Smith-Lemli-Opitz syndrome |
| Q8581 | PTEN hamartoma tumor syndrome |
| Q8582 | Other Cowden syndrome |
| Q8583 | Von Hippel-Lindau syndrome |
| Q8589 | Other phakomatoses, not elsewhere classified |
| Q8711 | Prader-Willi syndrome |
| Q8719 | Other congenital malformation syndromes predominantly associated with short stature |
| Q872 | Congenital malformation syndromes predominantly involving limbs |
| Q873 | Congenital malformation syndromes involving early overgrowth |
| Q8740 | Marfan syndrome, unspecified |
| Q87410 | Marfan syndrome with aortic dilation |
| Q87418 | Marfan syndrome with other cardiovascular manifestations |
| Q8742 | Marfan syndrome with ocular manifestations |
| Q8743 | Marfan syndrome with skeletal manifestation |
| Q875 | Other congenital malformation syndromes with other skeletal changes |
| Q8781 | Alport syndrome |
| Q8782 | Arterial tortuosity syndrome |
| Q8783 | Bardet-Biedl syndrome |
| Q8784 | Laurence-Moon syndrome |
| Q8785 | MED13L syndrome |
| Q8786 | Kleefstra syndrome |
| Q8787 | Hao-Fountain Syndrome |
| Q8789 | Other specified congenital malformation syndromes, not elsewhere classified |
| Q8981 | Kabuki syndrome |
| Q8989 | Other specified congenital malformations |
| Q992 | Fragile X chromosome |
| Q99811 | Usher syndrome, type 1 |
| Q99812 | Usher syndrome, type 2 |
| Q99813 | Usher syndrome, type 3 |
| Q99818 | Other Usher syndrome |
| Q99819 | Usher syndrome, unspecified |
| QA00101 | SCN2A-related neurodevelopmental disorder |
| QA00102 | CACNA1A-related neurodevelopmental disorder |
| QA00109 | Neurodevelopmental disorder related to pathogenic variant in other ion channel gene |
| QA0011 | Neurodevelopmental disorders, related to pathogenic variants in glutamate receptor genes |
| QA0012 | Neurodevelopmental disorders, related to pathogenic variants in other receptor genes |
| QA00131 | SLC6A1-related disorder |
| QA00139 | Neurodevelopmental disorder, related to pathogenic variant in other transporter or solute carrier gene |
| QA00141 | Syntaxin-binding protein 1-related disorder |
| QA00142 | DLG4-related synaptopathy |
| QA00149 | Neurodevelopmental disorder, related to pathogenic variant in other synapse related gene |
| QA00151 | FOXG1 syndrome |
| QA00159 | Neurodevelopmental disorder, related to other genes associated with transcription and gene expression |
| QA08 | Other neurodevelopmental disorders related to pathogenic variants in other specific genes |
| |
| PDX Collection 1540 |
| Q8901 | Asplenia (congenital) |
| Q8909 | Congenital malformations of spleen |
| Q899 | Congenital malformation, unspecified |
| |
| PDX Collection 1541 |
| Q893 | Situs inversus |
| Q897 | Multiple congenital malformations, not elsewhere classified |
| Q899 | Congenital malformation, unspecified |
| |
| PDX Collection 1542 |
| Q894 | Conjoined twins |
| Q897 | Multiple congenital malformations, not elsewhere classified |
| Q899 | Congenital malformation, unspecified |
| |
| PDX Collection 1543 |
| Q900 | Trisomy 21, nonmosaicism (meiotic nondisjunction) |
| Q901 | Trisomy 21, mosaicism (mitotic nondisjunction) |
| Q902 | Trisomy 21, translocation |
| Q909 | Down syndrome, unspecified |
| Q910 | Trisomy 18, nonmosaicism (meiotic nondisjunction) |
| Q911 | Trisomy 18, mosaicism (mitotic nondisjunction) |
| Q912 | Trisomy 18, translocation |
| Q913 | Trisomy 18, unspecified |
| Q914 | Trisomy 13, nonmosaicism (meiotic nondisjunction) |
| Q915 | Trisomy 13, mosaicism (mitotic nondisjunction) |
| Q916 | Trisomy 13, translocation |
| Q917 | Trisomy 13, unspecified |
| Q920 | Whole chromosome trisomy, nonmosaicism (meiotic nondisjunction) |
| Q921 | Whole chromosome trisomy, mosaicism (mitotic nondisjunction) |
| Q922 | Partial trisomy |
| Q925 | Duplications with other complex rearrangements |
| Q9261 | Marker chromosomes in normal individual |
| Q9262 | Marker chromosomes in abnormal individual |
| Q927 | Triploidy and polyploidy |
| Q928 | Other specified trisomies and partial trisomies of autosomes |
| Q929 | Trisomy and partial trisomy of autosomes, unspecified |
| Q930 | Whole chromosome monosomy, nonmosaicism (meiotic nondisjunction) |
| Q931 | Whole chromosome monosomy, mosaicism (mitotic nondisjunction) |
| Q932 | Chromosome replaced with ring, dicentric or isochromosome |
| Q933 | Deletion of short arm of chromosome 4 |
| Q934 | Deletion of short arm of chromosome 5 |
| Q9351 | Angelman syndrome |
| Q9352 | Phelan-McDermid syndrome |
| Q9359 | Other deletions of part of a chromosome |
| Q937 | Deletions with other complex rearrangements |
| Q9381 | Velo-cardio-facial syndrome |
| Q9382 | Williams syndrome |
| Q9388 | Other microdeletions |
| Q9389 | Other deletions from the autosomes |
| Q939 | Deletion from autosomes, unspecified |
| Q950 | Balanced translocation and insertion in normal individual |
| Q951 | Chromosome inversion in normal individual |
| Q952 | Balanced autosomal rearrangement in abnormal individual |
| Q953 | Balanced sex/autosomal rearrangement in abnormal individual |
| Q955 | Individual with autosomal fragile site |
| Q958 | Other balanced rearrangements and structural markers |
| Q959 | Balanced rearrangement and structural marker, unspecified |
| Q960 | Karyotype 45, X |
| Q961 | Karyotype 46, X iso (Xq) |
| Q962 | Karyotype 46, X with abnormal sex chromosome, except iso (Xq) |
| Q963 | Mosaicism, 45, X/46, XX or XY |
| Q964 | Mosaicism, 45, X/other cell line(s) with abnormal sex chromosome |
| Q968 | Other variants of Turner's syndrome |
| Q969 | Turner's syndrome, unspecified |
| Q970 | Karyotype 47, XXX |
| Q971 | Female with more than three X chromosomes |
| Q972 | Mosaicism, lines with various numbers of X chromosomes |
| Q973 | Female with 46, XY karyotype |
| Q978 | Other specified sex chromosome abnormalities, female phenotype |
| Q979 | Sex chromosome abnormality, female phenotype, unspecified |
| Q980 | Klinefelter syndrome karyotype 47, XXY |
| Q981 | Klinefelter syndrome, male with more than two X chromosomes |
| Q983 | Other male with 46, XX karyotype |
| Q984 | Klinefelter syndrome, unspecified |
| Q985 | Karyotype 47, XYY |
| Q986 | Male with structurally abnormal sex chromosome |
| Q987 | Male with sex chromosome mosaicism |
| Q988 | Other specified sex chromosome abnormalities, male phenotype |
| Q989 | Sex chromosome abnormality, male phenotype, unspecified |
| Q990 | Chimera 46, XX/46, XY |
| Q991 | 46, XX true hermaphrodite |
| Q9989 | Other specified chromosome abnormalities |
| Q999 | Chromosomal abnormality, unspecified |
| |
| PDX Collection 1544 |
| Q900 | Trisomy 21, nonmosaicism (meiotic nondisjunction) |
| Q901 | Trisomy 21, mosaicism (mitotic nondisjunction) |
| Q902 | Trisomy 21, translocation |
| Q909 | Down syndrome, unspecified |
| Q910 | Trisomy 18, nonmosaicism (meiotic nondisjunction) |
| Q911 | Trisomy 18, mosaicism (mitotic nondisjunction) |
| Q912 | Trisomy 18, translocation |
| Q913 | Trisomy 18, unspecified |
| Q914 | Trisomy 13, nonmosaicism (meiotic nondisjunction) |
| Q915 | Trisomy 13, mosaicism (mitotic nondisjunction) |
| Q916 | Trisomy 13, translocation |
| Q917 | Trisomy 13, unspecified |
| Q920 | Whole chromosome trisomy, nonmosaicism (meiotic nondisjunction) |
| Q921 | Whole chromosome trisomy, mosaicism (mitotic nondisjunction) |
| Q922 | Partial trisomy |
| Q925 | Duplications with other complex rearrangements |
| Q9261 | Marker chromosomes in normal individual |
| Q9262 | Marker chromosomes in abnormal individual |
| Q927 | Triploidy and polyploidy |
| Q928 | Other specified trisomies and partial trisomies of autosomes |
| Q929 | Trisomy and partial trisomy of autosomes, unspecified |
| Q930 | Whole chromosome monosomy, nonmosaicism (meiotic nondisjunction) |
| Q931 | Whole chromosome monosomy, mosaicism (mitotic nondisjunction) |
| Q932 | Chromosome replaced with ring, dicentric or isochromosome |
| Q933 | Deletion of short arm of chromosome 4 |
| Q934 | Deletion of short arm of chromosome 5 |
| Q9381 | Velo-cardio-facial syndrome |
| Q9388 | Other microdeletions |
| Q950 | Balanced translocation and insertion in normal individual |
| Q951 | Chromosome inversion in normal individual |
| Q952 | Balanced autosomal rearrangement in abnormal individual |
| Q953 | Balanced sex/autosomal rearrangement in abnormal individual |
| Q955 | Individual with autosomal fragile site |
| Q958 | Other balanced rearrangements and structural markers |
| Q959 | Balanced rearrangement and structural marker, unspecified |
| Q960 | Karyotype 45, X |
| Q961 | Karyotype 46, X iso (Xq) |
| Q962 | Karyotype 46, X with abnormal sex chromosome, except iso (Xq) |
| Q963 | Mosaicism, 45, X/46, XX or XY |
| Q964 | Mosaicism, 45, X/other cell line(s) with abnormal sex chromosome |
| Q968 | Other variants of Turner's syndrome |
| Q969 | Turner's syndrome, unspecified |
| Q970 | Karyotype 47, XXX |
| Q971 | Female with more than three X chromosomes |
| Q972 | Mosaicism, lines with various numbers of X chromosomes |
| Q973 | Female with 46, XY karyotype |
| Q978 | Other specified sex chromosome abnormalities, female phenotype |
| Q979 | Sex chromosome abnormality, female phenotype, unspecified |
| Q980 | Klinefelter syndrome karyotype 47, XXY |
| Q981 | Klinefelter syndrome, male with more than two X chromosomes |
| Q983 | Other male with 46, XX karyotype |
| Q984 | Klinefelter syndrome, unspecified |
| Q985 | Karyotype 47, XYY |
| Q986 | Male with structurally abnormal sex chromosome |
| Q987 | Male with sex chromosome mosaicism |
| Q988 | Other specified sex chromosome abnormalities, male phenotype |
| Q989 | Sex chromosome abnormality, male phenotype, unspecified |
| Q990 | Chimera 46, XX/46, XY |
| Q991 | 46, XX true hermaphrodite |
| Q9989 | Other specified chromosome abnormalities |
| Q999 | Chromosomal abnormality, unspecified |
| |
| PDX Collection 1545 |
| Q900 | Trisomy 21, nonmosaicism (meiotic nondisjunction) |
| Q901 | Trisomy 21, mosaicism (mitotic nondisjunction) |
| Q902 | Trisomy 21, translocation |
| Q909 | Down syndrome, unspecified |
| Q910 | Trisomy 18, nonmosaicism (meiotic nondisjunction) |
| Q911 | Trisomy 18, mosaicism (mitotic nondisjunction) |
| Q912 | Trisomy 18, translocation |
| Q913 | Trisomy 18, unspecified |
| Q914 | Trisomy 13, nonmosaicism (meiotic nondisjunction) |
| Q915 | Trisomy 13, mosaicism (mitotic nondisjunction) |
| Q916 | Trisomy 13, translocation |
| Q917 | Trisomy 13, unspecified |
| Q920 | Whole chromosome trisomy, nonmosaicism (meiotic nondisjunction) |
| Q921 | Whole chromosome trisomy, mosaicism (mitotic nondisjunction) |
| Q922 | Partial trisomy |
| Q925 | Duplications with other complex rearrangements |
| Q9261 | Marker chromosomes in normal individual |
| Q9262 | Marker chromosomes in abnormal individual |
| Q927 | Triploidy and polyploidy |
| Q928 | Other specified trisomies and partial trisomies of autosomes |
| Q929 | Trisomy and partial trisomy of autosomes, unspecified |
| Q930 | Whole chromosome monosomy, nonmosaicism (meiotic nondisjunction) |
| Q931 | Whole chromosome monosomy, mosaicism (mitotic nondisjunction) |
| Q932 | Chromosome replaced with ring, dicentric or isochromosome |
| Q934 | Deletion of short arm of chromosome 5 |
| Q937 | Deletions with other complex rearrangements |
| Q9381 | Velo-cardio-facial syndrome |
| Q9388 | Other microdeletions |
| Q950 | Balanced translocation and insertion in normal individual |
| Q951 | Chromosome inversion in normal individual |
| Q952 | Balanced autosomal rearrangement in abnormal individual |
| Q953 | Balanced sex/autosomal rearrangement in abnormal individual |
| Q955 | Individual with autosomal fragile site |
| Q958 | Other balanced rearrangements and structural markers |
| Q959 | Balanced rearrangement and structural marker, unspecified |
| Q960 | Karyotype 45, X |
| Q961 | Karyotype 46, X iso (Xq) |
| Q962 | Karyotype 46, X with abnormal sex chromosome, except iso (Xq) |
| Q963 | Mosaicism, 45, X/46, XX or XY |
| Q964 | Mosaicism, 45, X/other cell line(s) with abnormal sex chromosome |
| Q968 | Other variants of Turner's syndrome |
| Q969 | Turner's syndrome, unspecified |
| Q970 | Karyotype 47, XXX |
| Q971 | Female with more than three X chromosomes |
| Q972 | Mosaicism, lines with various numbers of X chromosomes |
| Q973 | Female with 46, XY karyotype |
| Q978 | Other specified sex chromosome abnormalities, female phenotype |
| Q979 | Sex chromosome abnormality, female phenotype, unspecified |
| Q980 | Klinefelter syndrome karyotype 47, XXY |
| Q981 | Klinefelter syndrome, male with more than two X chromosomes |
| Q983 | Other male with 46, XX karyotype |
| Q984 | Klinefelter syndrome, unspecified |
| Q985 | Karyotype 47, XYY |
| Q986 | Male with structurally abnormal sex chromosome |
| Q987 | Male with sex chromosome mosaicism |
| Q988 | Other specified sex chromosome abnormalities, male phenotype |
| Q989 | Sex chromosome abnormality, male phenotype, unspecified |
| Q990 | Chimera 46, XX/46, XY |
| Q991 | 46, XX true hermaphrodite |
| Q9989 | Other specified chromosome abnormalities |
| Q999 | Chromosomal abnormality, unspecified |
| |
| PDX Collection 1546 |
| Q900 | Trisomy 21, nonmosaicism (meiotic nondisjunction) |
| Q901 | Trisomy 21, mosaicism (mitotic nondisjunction) |
| Q902 | Trisomy 21, translocation |
| Q909 | Down syndrome, unspecified |
| Q910 | Trisomy 18, nonmosaicism (meiotic nondisjunction) |
| Q911 | Trisomy 18, mosaicism (mitotic nondisjunction) |
| Q912 | Trisomy 18, translocation |
| Q913 | Trisomy 18, unspecified |
| Q914 | Trisomy 13, nonmosaicism (meiotic nondisjunction) |
| Q915 | Trisomy 13, mosaicism (mitotic nondisjunction) |
| Q916 | Trisomy 13, translocation |
| Q917 | Trisomy 13, unspecified |
| Q920 | Whole chromosome trisomy, nonmosaicism (meiotic nondisjunction) |
| Q921 | Whole chromosome trisomy, mosaicism (mitotic nondisjunction) |
| Q922 | Partial trisomy |
| Q925 | Duplications with other complex rearrangements |
| Q9261 | Marker chromosomes in normal individual |
| Q9262 | Marker chromosomes in abnormal individual |
| Q927 | Triploidy and polyploidy |
| Q928 | Other specified trisomies and partial trisomies of autosomes |
| Q929 | Trisomy and partial trisomy of autosomes, unspecified |
| Q930 | Whole chromosome monosomy, nonmosaicism (meiotic nondisjunction) |
| Q931 | Whole chromosome monosomy, mosaicism (mitotic nondisjunction) |
| Q932 | Chromosome replaced with ring, dicentric or isochromosome |
| Q934 | Deletion of short arm of chromosome 5 |
| Q9381 | Velo-cardio-facial syndrome |
| Q9388 | Other microdeletions |
| Q9389 | Other deletions from the autosomes |
| Q950 | Balanced translocation and insertion in normal individual |
| Q951 | Chromosome inversion in normal individual |
| Q952 | Balanced autosomal rearrangement in abnormal individual |
| Q953 | Balanced sex/autosomal rearrangement in abnormal individual |
| Q955 | Individual with autosomal fragile site |
| Q958 | Other balanced rearrangements and structural markers |
| Q959 | Balanced rearrangement and structural marker, unspecified |
| Q960 | Karyotype 45, X |
| Q961 | Karyotype 46, X iso (Xq) |
| Q962 | Karyotype 46, X with abnormal sex chromosome, except iso (Xq) |
| Q963 | Mosaicism, 45, X/46, XX or XY |
| Q964 | Mosaicism, 45, X/other cell line(s) with abnormal sex chromosome |
| Q968 | Other variants of Turner's syndrome |
| Q969 | Turner's syndrome, unspecified |
| Q970 | Karyotype 47, XXX |
| Q971 | Female with more than three X chromosomes |
| Q972 | Mosaicism, lines with various numbers of X chromosomes |
| Q973 | Female with 46, XY karyotype |
| Q978 | Other specified sex chromosome abnormalities, female phenotype |
| Q979 | Sex chromosome abnormality, female phenotype, unspecified |
| Q980 | Klinefelter syndrome karyotype 47, XXY |
| Q981 | Klinefelter syndrome, male with more than two X chromosomes |
| Q983 | Other male with 46, XX karyotype |
| Q984 | Klinefelter syndrome, unspecified |
| Q985 | Karyotype 47, XYY |
| Q986 | Male with structurally abnormal sex chromosome |
| Q987 | Male with sex chromosome mosaicism |
| Q988 | Other specified sex chromosome abnormalities, male phenotype |
| Q989 | Sex chromosome abnormality, male phenotype, unspecified |
| Q990 | Chimera 46, XX/46, XY |
| Q991 | 46, XX true hermaphrodite |
| Q9989 | Other specified chromosome abnormalities |
| Q999 | Chromosomal abnormality, unspecified |
| |
| PDX Collection 1547 |
| Q900 | Trisomy 21, nonmosaicism (meiotic nondisjunction) |
| Q901 | Trisomy 21, mosaicism (mitotic nondisjunction) |
| Q902 | Trisomy 21, translocation |
| Q909 | Down syndrome, unspecified |
| Q910 | Trisomy 18, nonmosaicism (meiotic nondisjunction) |
| Q911 | Trisomy 18, mosaicism (mitotic nondisjunction) |
| Q912 | Trisomy 18, translocation |
| Q913 | Trisomy 18, unspecified |
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