PDX Collection 1570 (continued) |
Q648 | Other specified congenital malformations of urinary system |
Q649 | Congenital malformation of urinary system, unspecified |
|
PDX Collection 1571 |
Q675 | Congenital deformity of spine |
Q763 | Congenital scoliosis due to congenital bony malformation |
Q76425 | Congenital lordosis, thoracolumbar region |
Q76426 | Congenital lordosis, lumbar region |
Q76427 | Congenital lordosis, lumbosacral region |
Q76428 | Congenital lordosis, sacral and sacrococcygeal region |
Q76429 | Congenital lordosis, unspecified region |
|
PDX Collection 1572 |
Q676 | Pectus excavatum |
Q677 | Pectus carinatum |
Q678 | Other congenital deformities of chest |
Q681 | Congenital deformity of finger(s) and hand |
Q743 | Arthrogryposis multiplex congenita |
|
PDX Collection 1573 |
Q765 | Cervical rib |
Q766 | Other congenital malformations of ribs |
Q767 | Congenital malformation of sternum |
Q768 | Other congenital malformations of bony thorax |
Q769 | Congenital malformation of bony thorax, unspecified |
Q772 | Short rib syndrome |
|
PDX Collection 1574 |
Q773 | Chondrodysplasia punctata |
Q776 | Chondroectodermal dysplasia |
Q780 | Osteogenesis imperfecta |
Q781 | Polyostotic fibrous dysplasia |
Q782 | Osteopetrosis |
Q783 | Progressive diaphyseal dysplasia |
Q785 | Metaphyseal dysplasia |
Q786 | Multiple congenital exostoses |
Q788 | Other specified osteochondrodysplasias |
Q789 | Osteochondrodysplasia, unspecified |
|
PDX Collection 1575 |
Q401 | Congenital hiatus hernia |
Q790 | Congenital diaphragmatic hernia |
Q791 | Other congenital malformations of diaphragm |
|
PDX Collection 1576 |
Q792 | Exomphalos |
Q793 | Gastroschisis |
Q794 | Prune belly syndrome |
Q7951 | Congenital hernia of bladder |
Q7959 | Other congenital malformations of abdominal wall |
|
PDX Collection 1577 |
Q7960 | Ehlers-Danlos syndrome, unspecified |
Q7961 | Classical Ehlers-Danlos syndrome |
Q7962 | Hypermobile Ehlers-Danlos syndrome |
Q7963 | Vascular Ehlers-Danlos syndrome |
Q7969 | Other Ehlers-Danlos syndromes |
|
PDX Collection 1578 |
Q851 | Tuberous sclerosis |
Q8581 | PTEN hamartoma tumor syndrome |
Q8582 | Other Cowden syndrome |
Q8583 | Von Hippel-Lindau syndrome |
Q8589 | Other phakomatoses, not elsewhere classified |
Q859 | Phakomatosis, unspecified |
Q897 | Multiple congenital malformations, not elsewhere classified |
Q899 | Congenital malformation, unspecified |
|
PDX Collection 1579 |
Q8581 | PTEN hamartoma tumor syndrome |
Q8582 | Other Cowden syndrome |
Q8583 | Von Hippel-Lindau syndrome |
Q8589 | Other phakomatoses, not elsewhere classified |
Q859 | Phakomatosis, unspecified |
Q899 | Congenital malformation, unspecified |
|
PDX Collection 1580 |
Q8711 | Prader-Willi syndrome |
Q8719 | Other congenital malformation syndromes predominantly associated with short stature |
|
PDX Collection 1581 |
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 |
Q8789 | Other specified congenital malformation syndromes, not elsewhere classified |
Q898 | Other specified congenital malformations |
Q992 | Fragile X chromosome |
|
PDX Collection 1582 |
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 |
Q8789 | Other specified congenital malformation syndromes, not elsewhere classified |
Q897 | Multiple congenital malformations, not elsewhere classified |
Q898 | Other specified congenital malformations |
Q899 | Congenital malformation, unspecified |
Q992 | Fragile X chromosome |
|
PDX Collection 1583 |
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 |
Q8789 | Other specified congenital malformation syndromes, not elsewhere classified |
Q898 | Other specified congenital malformations |
Q992 | Fragile X chromosome |
|
PDX Collection 1584 |
Q8901 | Asplenia (congenital) |
Q8909 | Congenital malformations of spleen |
Q899 | Congenital malformation, unspecified |
|
PDX Collection 1585 |
Q893 | Situs inversus |
Q897 | Multiple congenital malformations, not elsewhere classified |
Q899 | Congenital malformation, unspecified |
|
PDX Collection 1586 |
Q894 | Conjoined twins |
Q897 | Multiple congenital malformations, not elsewhere classified |
Q899 | Congenital malformation, unspecified |
|
PDX Collection 1587 |
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 |
Q998 | Other specified chromosome abnormalities |
Q999 | Chromosomal abnormality, unspecified |
|
PDX Collection 1588 |
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 |
Q998 | Other specified chromosome abnormalities |
Q999 | Chromosomal abnormality, unspecified |
|
PDX Collection 1589 |
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 |
Q998 | Other specified chromosome abnormalities |
Q999 | Chromosomal abnormality, unspecified |
|
PDX Collection 1590 |
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 |
Q998 | Other specified chromosome abnormalities |
Q999 | Chromosomal abnormality, unspecified |
|
PDX Collection 1591 |
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) |