Chromosomal anomalies
758.1
Congenital Anomalies
Both
756-759.99
ICD mappings
| ICD code | Type | Description | Phenome |
|---|---|---|---|
| Q76.41 | ICD10CM | Congenital kyphosis | MGI |
| Q76.411 | ICD10CM | Congenital kyphosis, occipito-atlanto-axial region | MGI |
| Q76.412 | ICD10CM | Congenital kyphosis, cervical region | MGI |
| Q76.413 | ICD10CM | Congenital kyphosis, cervicothoracic region | MGI |
| Q76.414 | ICD10CM | Congenital kyphosis, thoracic region | MGI |
| Q76.415 | ICD10CM | Congenital kyphosis, thoracolumbar region | MGI |
| Q76.419 | ICD10CM | Congenital kyphosis, unspecified region | MGI |
| Q90 | ICD10CM | Down syndrome | MGI |
| Q90.0 | ICD10CM | Trisomy 21, nonmosaicism (meiotic nondisjunction) | MGI |
| Q90.1 | ICD10CM | Trisomy 21, mosaicism (mitotic nondisjunction) | MGI |
| Q90.2 | ICD10CM | Trisomy 21, translocation | MGI |
| Q90.9 | ICD10CM | Down syndrome, unspecified | MGI |
| Q91 | ICD10CM | Trisomy 18 and Trisomy 13 | MGI |
| Q91.0 | ICD10CM | Trisomy 18, nonmosaicism (meiotic nondisjunction) | MGI |
| Q91.1 | ICD10CM | Trisomy 18, mosaicism (mitotic nondisjunction) | MGI |
| Q91.2 | ICD10CM | Trisomy 18, translocation | MGI |
| Q91.3 | ICD10CM | Trisomy 18, unspecified | MGI |
| Q91.4 | ICD10CM | Trisomy 13, nonmosaicism (meiotic nondisjunction) | MGI |
| Q91.5 | ICD10CM | Trisomy 13, mosaicism (mitotic nondisjunction) | MGI |
| Q91.6 | ICD10CM | Trisomy 13, translocation | MGI |
| Q91.7 | ICD10CM | Trisomy 13, unspecified | MGI |
| Q92 | ICD10CM | Other trisomies and partial trisomies of the autosomes, not elsewhere classified | MGI |
| Q92.0 | ICD10CM | Whole chromosome trisomy, nonmosaicism (meiotic nondisjunction) | MGI |
| Q92.1 | ICD10CM | Whole chromosome trisomy, mosaicism (mitotic nondisjunction) | MGI |
| Q92.2 | ICD10CM | Partial trisomy | MGI |
| Q92.5 | ICD10CM | Duplications with other complex rearrangements | MGI |
| Q92.6 | ICD10CM | Marker chromosomes | MGI |
| Q92.61 | ICD10CM | Marker chromosomes in normal individual | MGI |
| Q92.62 | ICD10CM | Marker chromosomes in abnormal individual | MGI |
| Q92.7 | ICD10CM | Triploidy and polyploidy | MGI |
| Q92.8 | ICD10CM | Other specified trisomies and partial trisomies of autosomes | MGI |
| Q92.9 | ICD10CM | Trisomy and partial trisomy of autosomes, unspecified | MGI |
| Q93 | ICD10CM | Monosomies and deletions from the autosomes, not elsewhere classified | MGI |
| Q93.0 | ICD10CM | Whole chromosome monosomy, nonmosaicism (meiotic nondisjunction) | MGI |
| Q93.1 | ICD10CM | Whole chromosome monosomy, mosaicism (mitotic nondisjunction) | MGI |
| Q93.2 | ICD10CM | Chromosome replaced with ring, dicentric or isochromosome | MGI |
| Q93.3 | ICD10CM | Deletion of short arm of chromosome 4 | MGI |
| Q93.4 | ICD10CM | Deletion of short arm of chromosome 5 | MGI |
| Q93.5 | ICD10CM | Other deletions of part of a chromosome | MGI |
| Q93.7 | ICD10CM | Deletions with other complex rearrangements | MGI |
| Q93.8 | ICD10CM | Other deletions from the autosomes | MGI |
| Q93.81 | ICD10CM | Velo-cardio-facial syndrome | MGI |
| Q93.88 | ICD10CM | Other microdeletions | MGI |
| Q93.89 | ICD10CM | Other deletions from the autosomes | MGI |
| Q93.9 | ICD10CM | Deletion from autosomes, unspecified | MGI |
| Q95 | ICD10CM | Balanced rearrangements and structural markers, not elsewhere classified | MGI |
| Q95.0 | ICD10CM | Balanced translocation and insertion in normal individual | MGI |
| Q95.1 | ICD10CM | Chromosome inversion in normal individual | MGI |
| Q95.2 | ICD10CM | Balanced autosomal rearrangement in abnormal individual | MGI |
| Q95.3 | ICD10CM | Balanced sex/autosomal rearrangement in abnormal individual | MGI |
| Q95.5 | ICD10CM | Individual with autosomal fragile site | MGI |
| Q95.8 | ICD10CM | Other balanced rearrangements and structural markers | MGI |
| Q95.9 | ICD10CM | Balanced rearrangement and structural marker, unspecified | MGI |
| Q96 | ICD10CM | Turner's syndrome | MGI |
| Q96.0 | ICD10CM | Karyotype 45, X | MGI |
| Q96.1 | ICD10CM | Karyotype 46, X iso (Xq) | MGI |
| Q96.2 | ICD10CM | Karyotype 46, X with abnormal sex chromosome, except iso (Xq) | MGI |
| Q96.3 | ICD10CM | Mosaicism, 45, X/46, XX or XY | MGI |
| Q96.4 | ICD10CM | Mosaicism, 45, X/other cell line(s) with abnormal sex chromosome | MGI |
| Q96.8 | ICD10CM | Other variants of Turner's syndrome | MGI |
| Q96.9 | ICD10CM | Turner's syndrome, unspecified | MGI |
| Q97 | ICD10CM | Other sex chromosome abnormalities, female phenotype, not elsewhere classified | MGI |
| Q97.0 | ICD10CM | Karyotype 47, XXX | MGI |
| Q97.1 | ICD10CM | Female with more than three X chromosomes | MGI |
| Q97.2 | ICD10CM | Mosaicism, lines with various numbers of X chromosomes | MGI |
| Q97.3 | ICD10CM | Female with 46, XY karyotype | MGI |
| Q97.8 | ICD10CM | Other specified sex chromosome abnormalities, female phenotype | MGI |
| Q97.9 | ICD10CM | Sex chromosome abnormality, female phenotype, unspecified | MGI |
| Q98 | ICD10CM | Other sex chromosome abnormalities, male phenotype, not elsewhere classified | MGI |
| Q98.0 | ICD10CM | Klinefelter syndrome karyotype 47, XXY | MGI |
| Q98.1 | ICD10CM | Klinefelter syndrome, male with more than two X chromosomes | MGI |
| Q98.3 | ICD10CM | Other male with 46, XX karyotype | MGI |
| Q98.4 | ICD10CM | Klinefelter syndrome, unspecified | MGI |
| Q98.5 | ICD10CM | Karyotype 47, XYY | MGI |
| Q98.6 | ICD10CM | Male with structurally abnormal sex chromosome | MGI |
| Q98.7 | ICD10CM | Male with sex chromosome mosaicism | MGI |
| Q98.8 | ICD10CM | Other specified sex chromosome abnormalities, male phenotype | MGI |
| Q98.9 | ICD10CM | Sex chromosome abnormality, male phenotype, unspecified | MGI |
| Q99.0 | ICD10CM | Chimera 46, XX/46, XY | MGI |
| Q99.1 | ICD10CM | 46, XX true hermaphrodite | MGI |
| Q99.8 | ICD10CM | Other specified chromosome abnormalities | MGI |
| Q99.9 | ICD10CM | Chromosomal abnormality, unspecified | MGI |
| 758.0 | ICD9CM | Down's syndrome | MGI |
| 758.1 | ICD9CM | Patau's syndrome | MGI |
| 758.2 | ICD9CM | Edwards' syndrome | MGI |
| 758.31 | ICD9CM | Cri-du-chat syndrome | MGI |
| 758.32 | ICD9CM | Velo-cardio-facial syndrome | MGI |
| 758.33 | ICD9CM | Other microdeletions | MGI |
| 758.39 | ICD9CM | Other autosomal deletions | MGI |
| 758.4 | ICD9CM | Balanced autosomal translocation in normal individual | MGI |
| 758.5 | ICD9CM | Other conditions due to autosomal anomalies | MGI |
| 758.6 | ICD9CM | Gonadal dysgenesis | MGI |
| 758.7 | ICD9CM | Klinefelter's syndrome | MGI |
| 758.81 | ICD9CM | Other conditions due to sex chromosome anomalies | MGI |
| 758.89 | ICD9CM | Other conditions due to chromosome anomalies | MGI |
| 758.9 | ICD9CM | Conditions due to anomaly of unspecified chromosome | MGI |
| Q90.9 | ICD10 | Q90.9 Down's syndrome, unspecified | UKB |
| Q91.2 | ICD10 | Q91.2 Trisomy 18, translocation | UKB |
| Q91.3 | ICD10 | Q91.3 Edwards' syndrome, unspecified | UKB |
| Q91.6 | ICD10 | Q91.6 Trisomy 13, translocation | UKB |
| Q91.7 | ICD10 | Q91.7 Patau's syndrome, unspecified | UKB |
| Q92.7 | ICD10 | Q92.7 Triploidy and polyploidy | UKB |
| Q92.8 | ICD10 | Q92.8 Other specified trisomies and partial trisomies of autosomes | UKB |
| Q93.4 | ICD10 | Q93.4 Deletion of short arm of chromosome 5 | UKB |
| Q93.5 | ICD10 | Q93.5 Other deletions of part of a chromosome | UKB |
| Q93.8 | ICD10 | Q93.8 Other deletions from the autosomes | UKB |
| Q96.3 | ICD10 | Q96.3 Mosaicism, 45,X/46,XX or XY | UKB |
| Q96.8 | ICD10 | Q96.8 Other variants of Turner's syndrome | UKB |
| Q96.9 | ICD10 | Q96.9 Turner's syndrome, unspecified | UKB |
| Q97.1 | ICD10 | Q97.1 Female with more than three X chromosomes | UKB |
| Q97.3 | ICD10 | Q97.3 Female with 46,XY karyotype | UKB |
| Q97.8 | ICD10 | Q97.8 Other specified sex chromosome abnormalities, female phenotype | UKB |
| Q97.9 | ICD10 | Q97.9 Sex chromosome abnormality, female phenotype, unspecified | UKB |
| Q98.0 | ICD10 | Q98.0 Klinefelter's syndrome karyotype 47,XXY | UKB |
| Q98.1 | ICD10 | Q98.1 Klinefelter's syndrome, male with more than two X chromosomes | UKB |
| Q98.4 | ICD10 | Q98.4 Klinefelter's syndrome, unspecified | UKB |
| Q98.7 | ICD10 | Q98.7 Male with sex chromosome mosaicism | UKB |
| Q98.8 | ICD10 | Q98.8 Other specified sex chromosome abnormalities, male phenotype | UKB |
| Q98.9 | ICD10 | Q98.9 Sex chromosome abnormality, male phenotype, unspecified | UKB |
| Q99.8 | ICD10 | Q99.8 Other specified chromosome abnormalities | UKB |
| Q99.9 | ICD10 | Q99.9 Chromosomal abnormality, unspecified | UKB |
| 758 | ICD9 | 758 Chromosomal anomalies | UKB |
| 758.0 | ICD9 | 7580 Down's syndrome | UKB |
| 758.1 | ICD9 | 7581 Patau's syndrome | UKB |
| 758.2 | ICD9 | 7582 Edward's syndrome | UKB |
| 758.3 | ICD9 | 7583 Autosomal deletion syndromes | UKB |
| 758.31 | ICD9 | 75831 Autosomal deletion syndromes (cri-du-chat syndrome) | UKB |
| 758.32 | ICD9 | 75832 Autosomal deletion syndromes (wolff-hirschorn syndrome) | UKB |
| 758.33 | ICD9 | 75833 Autosomal deletion syndromes (deletion of long arm of 13) | UKB |
| 758.39 | ICD9 | 75839 Autosomal deletion syndromes (unspecified) | UKB |
| 758.4 | ICD9 | 7584 Balanced autosomal translocation in normal individual | UKB |
| 758.5 | ICD9 | 7585 Other conditions due to autosomal anomalies | UKB |
| 758.6 | ICD9 | 7586 Gonadal dysgenesis | UKB |
| 758.7 | ICD9 | 7587 Klinefelter's syndrome | UKB |
| 758.8 | ICD9 | 7588 Other conditions due to sex chromosome anomalies | UKB |
| 758.81 | ICD9 | 75881 Other conditions due to sex chromosome anomalies (mosaic xo/xx) | UKB |
| 758.89 | ICD9 | 75889 Unspecified conditions due to sex chromosome anomalies | UKB |
| 758.9 | ICD9 | 7589 Conditions due to anomaly of unspecified chromosome | UKB |
This page is mainly a phenotype dictionary entry. When you are trying to find candidate PRS models, go to the Scores table, search by trait or exposure name, and then use the score-detail and PheWAS pages for model-specific follow-up.