| |
| PDX Collection 1088 |
| Q440 | Agenesis, aplasia and hypoplasia of gallbladder |
| Q441 | Other congenital malformations of gallbladder |
| Q442 | Atresia of bile ducts |
| Q443 | Congenital stenosis and stricture of bile ducts |
| Q444 | Choledochal cyst |
| Q445 | Other congenital malformations of bile ducts |
| Q446 | Cystic disease of liver |
| Q447 | Other congenital malformations of liver |
| |
| PDX Collection 1089 |
| Q442 | Atresia of bile ducts |
| Q443 | Congenital stenosis and stricture of bile ducts |
| Q458 | Other specified congenital malformations of digestive system |
| Q459 | Congenital malformation of digestive system, unspecified |
| |
| PDX Collection 1090 |
| Q440 | Agenesis, aplasia and hypoplasia of gallbladder |
| Q441 | Other congenital malformations of gallbladder |
| Q444 | Choledochal cyst |
| Q445 | Other congenital malformations of bile ducts |
| Q446 | Cystic disease of liver |
| Q447 | Other congenital malformations of liver |
| |
| PDX Collection 1091 |
| Q450 | Agenesis, aplasia and hypoplasia of pancreas |
| Q451 | Annular pancreas |
| Q452 | Congenital pancreatic cyst |
| Q453 | Other congenital malformations of pancreas and pancreatic duct |
| Q458 | Other specified congenital malformations of digestive system |
| Q459 | Congenital malformation of digestive system, unspecified |
| |
| PDX Collection 1092 |
| N139 | Obstructive and reflux uropathy, unspecified |
| Q600 | Renal agenesis, unilateral |
| Q601 | Renal agenesis, bilateral |
| Q602 | Renal agenesis, unspecified |
| Q603 | Renal hypoplasia, unilateral |
| Q604 | Renal hypoplasia, bilateral |
| Q605 | Renal hypoplasia, unspecified |
| Q606 | Potter's syndrome |
| |
| PDX Collection 1093 |
| N139 | Obstructive and reflux uropathy, unspecified |
| Q6100 | Congenital renal cyst, unspecified |
| Q619 | Cystic kidney disease, unspecified |
| |
| PDX Collection 1094 |
| N139 | Obstructive and reflux uropathy, unspecified |
| Q6101 | Congenital single renal cyst |
| |
| PDX Collection 1095 |
| N139 | Obstructive and reflux uropathy, unspecified |
| Q6102 | Congenital multiple renal cysts |
| Q615 | Medullary cystic kidney |
| Q618 | Other cystic kidney diseases |
| |
| PDX Collection 1096 |
| N139 | Obstructive and reflux uropathy, unspecified |
| Q6111 | Cystic dilatation of collecting ducts |
| Q6119 | Other polycystic kidney, infantile type |
| Q612 | Polycystic kidney, adult type |
| Q613 | Polycystic kidney, unspecified |
| |
| PDX Collection 1097 |
| N139 | Obstructive and reflux uropathy, unspecified |
| Q614 | Renal dysplasia |
| |
| PDX Collection 1098 |
| N139 | Obstructive and reflux uropathy, unspecified |
| Q620 | Congenital hydronephrosis |
| Q6210 | Congenital occlusion of ureter, unspecified |
| Q6211 | Congenital occlusion of ureteropelvic junction |
| Q6212 | Congenital occlusion of ureterovesical orifice |
| Q622 | Congenital megaureter |
| Q6239 | Other obstructive defects of renal pelvis and ureter |
| |
| PDX Collection 1099 |
| N139 | Obstructive and reflux uropathy, unspecified |
| Q6410 | Exstrophy of urinary bladder, unspecified |
| Q6411 | Supravesical fissure of urinary bladder |
| Q6412 | Cloacal exstrophy of urinary bladder |
| Q6419 | Other exstrophy of urinary bladder |
| Q648 | Other specified congenital malformations of urinary system |
| Q649 | Congenital malformation of urinary system, unspecified |
| |
| PDX Collection 1100 |
| N139 | Obstructive and reflux uropathy, unspecified |
| Q642 | Congenital posterior urethral valves |
| Q6431 | Congenital bladder neck obstruction |
| Q6432 | Congenital stricture of urethra |
| Q6433 | Congenital stricture of urinary meatus |
| Q6439 | Other atresia and stenosis of urethra and bladder neck |
| Q648 | Other specified congenital malformations of urinary system |
| Q649 | Congenital malformation of urinary system, unspecified |
| |
| PDX Collection 1101 |
| 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 1102 |
| 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 1103 |
| 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 1104 |
| 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 1105 |
| Q401 | Congenital hiatus hernia |
| Q790 | Congenital diaphragmatic hernia |
| Q791 | Other congenital malformations of diaphragm |
| |
| PDX Collection 1106 |
| Q792 | Exomphalos |
| Q793 | Gastroschisis |
| Q794 | Prune belly syndrome |
| Q7951 | Congenital hernia of bladder |
| Q7959 | Other congenital malformations of abdominal wall |
| |
| PDX Collection 1108 |
| Q851 | Tuberous sclerosis |
| Q858 | Other phakomatoses, not elsewhere classified |
| Q859 | Phakomatosis, unspecified |
| Q897 | Multiple congenital malformations, not elsewhere classified |
| Q899 | Congenital malformation, unspecified |
| |
| PDX Collection 1109 |
| Q858 | Other phakomatoses, not elsewhere classified |
| Q859 | Phakomatosis, unspecified |
| Q899 | Congenital malformation, unspecified |
| |
| PDX Collection 1111 |
| Q8901 | Asplenia (congenital) |
| Q8909 | Congenital malformations of spleen |
| Q899 | Congenital malformation, unspecified |
| |
| PDX Collection 1112 |
| Q893 | Situs inversus |
| Q897 | Multiple congenital malformations, not elsewhere classified |
| Q899 | Congenital malformation, unspecified |
| |
| PDX Collection 1113 |
| Q894 | Conjoined twins |
| Q897 | Multiple congenital malformations, not elsewhere classified |
| Q899 | Congenital malformation, unspecified |
| |
| PDX Collection 1114 |
| 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 |
| 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 1115 |
| 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 |
| 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 1116 |
| 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 |
| 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 1117 |
| 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 |
| 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 1118 |
| 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 |
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