|
PDX Collection 1079 |
Q330 | Congenital cystic lung |
Q331 | Accessory lobe of lung |
Q332 | Sequestration of lung |
Q333 | Agenesis of lung |
Q334 | Congenital bronchiectasis |
Q335 | Ectopic tissue in lung |
Q336 | Congenital hypoplasia and dysplasia of lung |
Q338 | Other congenital malformations of lung |
Q339 | Congenital malformation of lung, unspecified |
Q340 | Anomaly of pleura |
Q341 | Congenital cyst of mediastinum |
Q348 | Other specified congenital malformations of respiratory system |
Q349 | Congenital malformation of respiratory system, unspecified |
|
PDX Collection 1080 |
J449 | Chronic obstructive pulmonary disease, unspecified |
J470 | Bronchiectasis with acute lower respiratory infection |
J471 | Bronchiectasis with (acute) exacerbation |
J479 | Bronchiectasis, uncomplicated |
J681 | Pulmonary edema due to chemicals, gases, fumes and vapors |
J684 | Chronic respiratory conditions due to chemicals, gases, fumes and vapors |
J688 | Other respiratory conditions due to chemicals, gases, fumes and vapors |
J689 | Unspecified respiratory condition due to chemicals, gases, fumes and vapors |
Q334 | Congenital bronchiectasis |
|
PDX Collection 1081 |
Q390 | Atresia of esophagus without fistula |
Q391 | Atresia of esophagus with tracheo-esophageal fistula |
Q392 | Congenital tracheo-esophageal fistula without atresia |
Q393 | Congenital stenosis and stricture of esophagus |
Q394 | Esophageal web |
Q395 | Congenital dilatation of esophagus |
Q396 | Congenital diverticulum of esophagus |
Q398 | Other congenital malformations of esophagus |
Q399 | Congenital malformation of esophagus, unspecified |
Q458 | Other specified congenital malformations of digestive system |
Q459 | Congenital malformation of digestive system, unspecified |
|
PDX Collection 1082 |
Q395 | Congenital dilatation of esophagus |
Q396 | Congenital diverticulum of esophagus |
Q398 | Other congenital malformations of esophagus |
Q399 | Congenital malformation of esophagus, unspecified |
Q458 | Other specified congenital malformations of digestive system |
Q459 | Congenital malformation of digestive system, unspecified |
|
PDX Collection 1083 |
Q410 | Congenital absence, atresia and stenosis of duodenum |
Q411 | Congenital absence, atresia and stenosis of jejunum |
Q412 | Congenital absence, atresia and stenosis of ileum |
Q418 | Congenital absence, atresia and stenosis of other specified parts of small intestine |
Q419 | Congenital absence, atresia and stenosis of small intestine, part unspecified |
Q458 | Other specified congenital malformations of digestive system |
Q459 | Congenital malformation of digestive system, unspecified |
|
PDX Collection 1084 |
Q420 | Congenital absence, atresia and stenosis of rectum with fistula |
Q421 | Congenital absence, atresia and stenosis of rectum without fistula |
Q422 | Congenital absence, atresia and stenosis of anus with fistula |
Q423 | Congenital absence, atresia and stenosis of anus without fistula |
Q428 | Congenital absence, atresia and stenosis of other parts of large intestine |
Q429 | Congenital absence, atresia and stenosis of large intestine, part unspecified |
Q458 | Other specified congenital malformations of digestive system |
Q459 | Congenital malformation of digestive system, unspecified |
|
PDX Collection 1085 |
Q431 | Hirschsprung's disease |
Q432 | Other congenital functional disorders of colon |
Q458 | Other specified congenital malformations of digestive system |
Q459 | Congenital malformation of digestive system, unspecified |
|
PDX Collection 1086 |
Q433 | Congenital malformations of intestinal fixation |
Q434 | Duplication of intestine |
Q435 | Ectopic anus |
Q436 | Congenital fistula of rectum and anus |
Q437 | Persistent cloaca |
Q438 | Other specified congenital malformations of intestine |
Q439 | Congenital malformation of intestine, unspecified |
|
PDX Collection 1087 |
Q410 | Congenital absence, atresia and stenosis of duodenum |
Q411 | Congenital absence, atresia and stenosis of jejunum |
Q412 | Congenital absence, atresia and stenosis of ileum |
Q418 | Congenital absence, atresia and stenosis of other specified parts of small intestine |
Q419 | Congenital absence, atresia and stenosis of small intestine, part unspecified |
Q420 | Congenital absence, atresia and stenosis of rectum with fistula |
Q421 | Congenital absence, atresia and stenosis of rectum without fistula |
Q422 | Congenital absence, atresia and stenosis of anus with fistula |
Q423 | Congenital absence, atresia and stenosis of anus without fistula |
Q428 | Congenital absence, atresia and stenosis of other parts of large intestine |
Q429 | Congenital absence, atresia and stenosis of large intestine, part unspecified |
Q430 | Meckel's diverticulum (displaced) (hypertrophic) |
Q431 | Hirschsprung's disease |
Q432 | Other congenital functional disorders of colon |
Q433 | Congenital malformations of intestinal fixation |
Q434 | Duplication of intestine |
Q435 | Ectopic anus |
Q436 | Congenital fistula of rectum and anus |
Q437 | Persistent cloaca |
Q438 | Other specified congenital malformations of intestine |
Q439 | Congenital malformation of intestine, unspecified |
|
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 extrophy 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 1107 |
Q796 | Ehlers-Danlos syndrome |
|
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 1110 |
E7871 | Barth syndrome |
E7872 | Smith-Lemli-Opitz syndrome |
Q858 | Other phakomatoses, not elsewhere classified |
Q859 | Phakomatosis, unspecified |
Q871 | Congenital malformation syndromes predominantly associated with short stature |
Q872 | Congenital malformation syndromes predominantly involving limbs |
Q873 | Congenital malformation syndromes involving early overgrowth |
Q8740 | Marfan's syndrome, unspecified |
Q87410 | Marfan's syndrome with aortic dilation |
Q87418 | Marfan's syndrome with other cardiovascular manifestations |
Q8742 | Marfan's syndrome with ocular manifestations |
Q8743 | Marfan's syndrome with skeletal manifestation |
Q875 | Other congenital malformation syndromes with other skeletal changes |
Q8781 | Alport syndrome |
Q8782 | Arterial tortuosity 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 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 |
Q935 | Other deletions of part of a chromosome |
Q937 | Deletions with other complex rearrangements |
Q9381 | Velo-cardio-facial 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 |
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 |
Q935 | Other deletions of part of a chromosome |
Q937 | Deletions with other complex rearrangements |
Q9381 | Velo-cardio-facial 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 |