Phecode ID Phecode Description Range Sex Phecode Category ICD code ICD Description ICD Type Phenome
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q99.1 46, XX true hermaphrodite ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies 759.82 75982 Congenital malformation syndromes associated with short stature ICD9 UKB
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q95.2 Balanced autosomal rearrangement in abnormal individual ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies 758.4 Balanced autosomal translocation in normal individual ICD9CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q95.9 Balanced rearrangement and structural marker, unspecified ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q95 Balanced rearrangements and structural markers, not elsewhere classified ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q95.3 Balanced sex/autosomal rearrangement in abnormal individual ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q95.0 Balanced translocation and insertion in normal individual ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q99.0 Chimera 46, XX/46, XY ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q99.9 Chromosomal abnormality, unspecified ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q95.1 Chromosome inversion in normal individual ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q93.2 Chromosome replaced with ring, dicentric or isochromosome ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies 758.9 Conditions due to anomaly of unspecified chromosome ICD9CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q76.41 Congenital kyphosis ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q76.412 Congenital kyphosis, cervical region ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q76.413 Congenital kyphosis, cervicothoracic region ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q76.411 Congenital kyphosis, occipito-atlanto-axial region ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q76.414 Congenital kyphosis, thoracic region ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q76.415 Congenital kyphosis, thoracolumbar region ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q76.419 Congenital kyphosis, unspecified region ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q87.1 Congenital malformation syndromes predominantly associated with short stature ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies 758.31 Cri-du-chat syndrome ICD9CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q93.9 Deletion from autosomes, unspecified ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q93.3 Deletion of short arm of chromosome 4 ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q93.4 Deletion of short arm of chromosome 5 ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q93.7 Deletions with other complex rearrangements ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q90 Down syndrome ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q90.9 Down syndrome, unspecified ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies 758.0 Down's syndrome ICD9CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q92.5 Duplications with other complex rearrangements ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies 758.2 Edwards' syndrome ICD9CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q97.3 Female with 46, XY karyotype ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q97.1 Female with more than three X chromosomes ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q99.2 Fragile X chromosome ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies 759.83 Fragile X syndrome ICD9CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies 758.6 Gonadal dysgenesis ICD9CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q95.5 Individual with autosomal fragile site ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q96.0 Karyotype 45, X ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q96.1 Karyotype 46, X iso (Xq) ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q96.2 Karyotype 46, X with abnormal sex chromosome, except iso (Xq) ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q97.0 Karyotype 47, XXX ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q98.5 Karyotype 47, XYY ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q98.0 Klinefelter syndrome karyotype 47, XXY ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q98.1 Klinefelter syndrome, male with more than two X chromosomes ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q98.4 Klinefelter syndrome, unspecified ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies 758.7 Klinefelter's syndrome ICD9CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q98.7 Male with sex chromosome mosaicism ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q98.6 Male with structurally abnormal sex chromosome ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies 759.82 Marfan syndrome ICD9CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q87.4 Marfan's syndrome ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q87.410 Marfan's syndrome with aortic dilation ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q87.41 Marfan's syndrome with cardiovascular manifestations ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q87.42 Marfan's syndrome with ocular manifestations ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q87.418 Marfan's syndrome with other cardiovascular manifestations ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q87.43 Marfan's syndrome with skeletal manifestation ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q87.40 Marfan's syndrome, unspecified ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q92.6 Marker chromosomes ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q92.62 Marker chromosomes in abnormal individual ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q92.61 Marker chromosomes in normal individual ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q93 Monosomies and deletions from the autosomes, not elsewhere classified ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q96.3 Mosaicism, 45, X/46, XX or XY ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q96.4 Mosaicism, 45, X/other cell line(s) with abnormal sex chromosome ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q97.2 Mosaicism, lines with various numbers of X chromosomes ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies 758.39 Other autosomal deletions ICD9CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q95.8 Other balanced rearrangements and structural markers ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies 758.5 Other conditions due to autosomal anomalies ICD9CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies 758.89 Other conditions due to chromosome anomalies ICD9CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies 758.81 Other conditions due to sex chromosome anomalies ICD9CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q93.8 Other deletions from the autosomes ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q93.89 Other deletions from the autosomes ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q93.5 Other deletions of part of a chromosome ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q98.3 Other male with 46, XX karyotype ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies 758.33 Other microdeletions ICD9CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q93.88 Other microdeletions ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q99.8 Other specified chromosome abnormalities ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q97.8 Other specified sex chromosome abnormalities, female phenotype ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q98.8 Other specified sex chromosome abnormalities, male phenotype ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q92.8 Other specified trisomies and partial trisomies of autosomes ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q96.8 Other variants of Turner's syndrome ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q92.2 Partial trisomy ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies 758.1 Patau's syndrome ICD9CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies 759.81 Prader-Willi syndrome ICD9CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q87.1 Q87.1 Congenital malformation syndromes predominantly associated with short stature ICD10 UKB
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q87.4 Q87.4 Marfan's syndrome ICD10 UKB
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q90.9 Q90.9 Down's syndrome, unspecified ICD10 UKB
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q91.2 Q91.2 Trisomy 18, translocation ICD10 UKB
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q91.3 Q91.3 Edwards' syndrome, unspecified ICD10 UKB
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q91.6 Q91.6 Trisomy 13, translocation ICD10 UKB
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q91.7 Q91.7 Patau's syndrome, unspecified ICD10 UKB
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q92.7 Q92.7 Triploidy and polyploidy ICD10 UKB
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q92.8 Q92.8 Other specified trisomies and partial trisomies of autosomes ICD10 UKB
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q93.4 Q93.4 Deletion of short arm of chromosome 5 ICD10 UKB
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q93.5 Q93.5 Other deletions of part of a chromosome ICD10 UKB
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q93.8 Q93.8 Other deletions from the autosomes ICD10 UKB
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q96.3 Q96.3 Mosaicism, 45,X/46,XX or XY ICD10 UKB
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q96.8 Q96.8 Other variants of Turner's syndrome ICD10 UKB
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q96.9 Q96.9 Turner's syndrome, unspecified ICD10 UKB
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q97.1 Q97.1 Female with more than three X chromosomes ICD10 UKB
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q97.3 Q97.3 Female with 46,XY karyotype ICD10 UKB
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q97.8 Q97.8 Other specified sex chromosome abnormalities, female phenotype ICD10 UKB
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q97.9 Q97.9 Sex chromosome abnormality, female phenotype, unspecified ICD10 UKB
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q98.0 Q98.0 Klinefelter's syndrome karyotype 47,XXY ICD10 UKB
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q98.1 Q98.1 Klinefelter's syndrome, male with more than two X chromosomes ICD10 UKB
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q98.4 Q98.4 Klinefelter's syndrome, unspecified ICD10 UKB
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q98.7 Q98.7 Male with sex chromosome mosaicism ICD10 UKB
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q98.8 Q98.8 Other specified sex chromosome abnormalities, male phenotype ICD10 UKB
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q98.9 Q98.9 Sex chromosome abnormality, male phenotype, unspecified ICD10 UKB
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q99.2 Q99.2 Fragile X chromosome ICD10 UKB
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q99.8 Q99.8 Other specified chromosome abnormalities ICD10 UKB
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q99.9 Q99.9 Chromosomal abnormality, unspecified ICD10 UKB
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q97.9 Sex chromosome abnormality, female phenotype, unspecified ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q98.9 Sex chromosome abnormality, male phenotype, unspecified ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q92.7 Triploidy and polyploidy ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q91.5 Trisomy 13, mosaicism (mitotic nondisjunction) ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q91.4 Trisomy 13, nonmosaicism (meiotic nondisjunction) ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q91.6 Trisomy 13, translocation ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q91.7 Trisomy 13, unspecified ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q91 Trisomy 18 and Trisomy 13 ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction) ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q91.0 Trisomy 18, nonmosaicism (meiotic nondisjunction) ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q91.2 Trisomy 18, translocation ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q91.3 Trisomy 18, unspecified ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction) ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q90.0 Trisomy 21, nonmosaicism (meiotic nondisjunction) ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q90.2 Trisomy 21, translocation ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q92.9 Trisomy and partial trisomy of autosomes, unspecified ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q96 Turner's syndrome ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q96.9 Turner's syndrome, unspecified ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies 758.32 Velo-cardio-facial syndrome ICD9CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q93.81 Velo-cardio-facial syndrome ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q93.1 Whole chromosome monosomy, mosaicism (mitotic nondisjunction) ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q93.0 Whole chromosome monosomy, nonmosaicism (meiotic nondisjunction) ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction) ICD10CM MGI
758 Chromosomal anomalies and genetic disorders 756-759.99 Both congenital anomalies Q92.0 Whole chromosome trisomy, nonmosaicism (meiotic nondisjunction) ICD10CM MGI