| ICD-10 | Descriptor |
| C91.00 |
Acute lymphoblastic leukemia not having achieved remission |
| C91.01 |
Acute lymphoblastic leukemia, in remission |
| C91.02 |
Acute lymphoblastic leukemia, in relapse |
| C92.00 |
Acute myeloblastic leukemia, not having achieved remission |
| C92.01 |
Acute myeloblastic leukemia, in remission |
| C92.02 |
Acute myeloblastic leukemia, in relapse |
| C92.10 |
Chronic myeloid leukemia, BCR/ABL-positive, not having achieved remission |
| C92.11 |
Chronic myeloid leukemia, BCR/ABL-positive, in remission |
| C92.12 |
Chronic myeloid leukemia, BCR/ABL-positive, in relapse |
| C92.20 |
Atypical chronic myeloid leukemia, BCR/ABL-negative, not having achieved remission |
| C92.21 |
Atypical chronic myeloid leukemia, BCR/ABL-negative, in remission |
| C92.22 |
Atypical chronic myeloid leukemia, BCR/ABL-negative, in relapse |
| C92.40 |
Acute promyelocytic leukemia, not having achieved remission |
| C92.41 |
Acute promyelocytic leukemia, in remission |
| C92.42 |
Acute promyelocytic leukemia, in relapse |
| C92.50 |
Acute myelomonocytic leukemia, not having achieved remission |
| C92.51 |
Acute myelomonocytic leukemia, in remission |
| C92.52 |
Acute myelomonocytic leukemia, in relapse |
| C92.60 |
Acute myeloid leukemia with 11q23-abnormality not having achieved remission |
| C92.61 |
Acute myeloid leukemia with 11q23-abnormality in remission |
| C92.62 |
Acute myeloid leukemia with 11q23-abnormality in relapse |
| C92.A0 |
Acute myeloid leukemia with multilineage dysplasia, not having achieved remission |
| C92.A1 |
Acute myeloid leukemia with multilineage dysplasia, in remission |
| C92.A2 |
Acute myeloid leukemia with multilineage dysplasia, in relapse |
| C93.00 |
Acute monoblastic/monocytic leukemia, not having achieved remission |
| C93.01 |
Acute monoblastic/monocytic leukemia, in remission |
| C93.02 |
Acute monoblastic/monocytic leukemia, in relapse |
| C93.10 |
Chronic myelomonocytic leukemia not having achieved remission |
| C93.11 |
Chronic myelomonocytic leukemia, in remission |
| C93.12 |
Chronic myelomonocytic leukemia, in relapse |
| C94.00 |
Acute erythroid leukemia, not having achieved remission |
| C94.01 |
Acute erythroid leukemia, in remission |
| C94.02 |
Acute erythroid leukemia, in relapse |
| C94.20 |
Acute megakaryoblastic leukemia not having achieved remission |
| C94.21 |
Acute megakaryoblastic leukemia, in remission |
| C94.22 |
Acute megakaryoblastic leukemia, in relapse |
| C95.00 |
Acute leukemia of unspecified cell type not having achieved remission |
| C95.01 |
Acute leukemia of unspecified cell type, in remission |
| C95.02 |
Acute leukemia of unspecified cell type, in relapse |
| D46.0 |
Refractory anemia without ring sideroblasts, so stated |
| D46.1 |
Refractory anemia with ring sideroblasts |
| D46.20 |
Refractory anemia with excess of blasts, unspecified |
| D46.21 |
Refractory anemia with excess of blasts 1 |
| D46.22 |
Refractory anemia with excess of blasts 2 |
| D46.4 |
Refractory anemia, unspecified |
| D46.9 |
Myelodysplastic syndrome, unspecified |
| D46.A |
Refractory cytopenia with multilineage dysplasia |
| D46.B |
Refractory cytopenia with multilineage dysplasia and ring sideroblasts |
| D46.C |
Myelodysplastic syndrome with isolated del(5q) chromosomal abnormality |
| D46.Z |
Other myelodysplastic syndromes |
| D72.0 |
Genetic anomalies of leukocytes |
| E28.39 |
Other primary ovarian failure |
| E28.8 |
Other ovarian dysfunction |
| E28.9 |
Ovarian dysfunction, unspecified |
| E29.1 |
Testicular hypofunction |
| E29.8 |
Other testicular dysfunction |
| E29.9 |
Testicular dysfunction, unspecified |
| E30.0 |
Delayed puberty |
| O28.5 |
Abnormal chromosomal and genetic finding on antenatal screening of mother |
| O35.10X0 |
Maternal care for (suspected) chromosomal abnormality in fetus, unspecified, not applicable or unspecified |
| O35.10X1 |
Maternal care for (suspected) chromosomal abnormality in fetus, unspecified, fetus 1 |
| O35.10X2 |
Maternal care for (suspected) chromosomal abnormality in fetus, unspecified, fetus 2 |
| O35.10X3 |
Maternal care for (suspected) chromosomal abnormality in fetus, unspecified, fetus 3 |
| O35.10X4 |
Maternal care for (suspected) chromosomal abnormality in fetus, unspecified, fetus 4 |
| O35.10X5 |
Maternal care for (suspected) chromosomal abnormality in fetus, unspecified, fetus 5 |
| O35.10X9 |
Maternal care for (suspected) chromosomal abnormality in fetus, unspecified, other fetus |
| O35.11X0 |
Maternal care for (suspected) chromosomal abnormality in fetus, Trisomy 13, not applicable or unspecified |
| O35.11X1 |
Maternal care for (suspected) chromosomal abnormality in fetus, Trisomy 13, fetus 1 |
| O35.11X2 |
Maternal care for (suspected) chromosomal abnormality in fetus, Trisomy 13, fetus 2 |
| O35.11X3 |
Maternal care for (suspected) chromosomal abnormality in fetus, Trisomy 13, fetus 3 |
| O35.11X4 |
Maternal care for (suspected) chromosomal abnormality in fetus, Trisomy 13, fetus 4 |
| O35.11X5 |
Maternal care for (suspected) chromosomal abnormality in fetus, Trisomy 13, fetus 5 |
| O35.11X9 |
Maternal care for (suspected) chromosomal abnormality in fetus, Trisomy 13, other fetus |
| O35.12X0 |
Maternal care for (suspected) chromosomal abnormality in fetus, Trisomy 18, not applicable or unspecified |
| O35.12X1 |
Maternal care for (suspected) chromosomal abnormality in fetus, Trisomy 18, fetus 1 |
| O35.12X2 |
Maternal care for (suspected) chromosomal abnormality in fetus, Trisomy 18, fetus 2 |
| O35.12X3 |
Maternal care for (suspected) chromosomal abnormality in fetus, Trisomy 18, fetus 3 |
| O35.12X4 |
Maternal care for (suspected) chromosomal abnormality in fetus, Trisomy 18, fetus 4 |
| O35.12X5 |
Maternal care for (suspected) chromosomal abnormality in fetus, Trisomy 18, fetus 5 |
| O35.12X9 |
Maternal care for (suspected) chromosomal abnormality in fetus, Trisomy 18, other fetus |
| O35.13X0 |
Maternal care for (suspected) chromosomal abnormality in fetus, Trisomy 21, not applicable or unspecified |
| O35.13X1 |
Maternal care for (suspected) chromosomal abnormality in fetus, Trisomy 21, fetus 1 |
| O35.13X2 |
Maternal care for (suspected) chromosomal abnormality in fetus, Trisomy 21, fetus 2 |
| O35.13X3 |
Maternal care for (suspected) chromosomal abnormality in fetus, Trisomy 21, fetus 3 |
| O35.13X4 |
Maternal care for (suspected) chromosomal abnormality in fetus, Trisomy 21, fetus 4 |
| O35.13X5 |
Maternal care for (suspected) chromosomal abnormality in fetus, Trisomy 21, fetus 5 |
| O35.13X9 |
Maternal care for (suspected) chromosomal abnormality in fetus, Trisomy 21, other fetus |
| O35.14X0 |
Maternal care for (suspected) chromosomal abnormality in fetus, Turner Syndrome, not applicable or unspecified |
| O35.14X1 |
Maternal care for (suspected) chromosomal abnormality in fetus, Turner Syndrome, fetus 1 |
| O35.14X2 |
Maternal care for (suspected) chromosomal abnormality in fetus, Turner Syndrome, fetus 2 |
| O35.14X3 |
Maternal care for (suspected) chromosomal abnormality in fetus, Turner Syndrome, fetus 3 |
| O35.14X4 |
Maternal care for (suspected) chromosomal abnormality in fetus, Turner Syndrome, fetus 4 |
| O35.14X5 |
Maternal care for (suspected) chromosomal abnormality in fetus, Turner Syndrome, fetus 5 |
| O35.14X9 |
Maternal care for (suspected) chromosomal abnormality in fetus, Turner Syndrome, other fetus |
| O35.15X0 |
Maternal care for (suspected) chromosomal abnormality in fetus, sex chromosome abnormality, not applicable or unspecified |
| O35.15X1 |
Maternal care for (suspected) chromosomal abnormality in fetus, sex chromosome abnormality, fetus 1 |
| O35.15X2 |
Maternal care for (suspected) chromosomal abnormality in fetus, sex chromosome abnormality, fetus 2 |
| O35.15X3 |
Maternal care for (suspected) chromosomal abnormality in fetus, sex chromosome abnormality, fetus 3 |
| O35.15X4 |
Maternal care for (suspected) chromosomal abnormality in fetus, sex chromosome abnormality, fetus 4 |
| O35.15X5 |
Maternal care for (suspected) chromosomal abnormality in fetus, sex chromosome abnormality, fetus 5 |
| O35.15X9 |
Maternal care for (suspected) chromosomal abnormality in fetus, sex chromosome abnormality, other fetus |
| O35.19X0 |
Maternal care for (suspected) chromosomal abnormality in fetus, other chromosomal abnormality, not applicable or unspecified |
| O35.19X1 |
Maternal care for (suspected) chromosomal abnormality in fetus, other chromosomal abnormality, fetus 1 |
| O35.19X2 |
Maternal care for (suspected) chromosomal abnormality in fetus, other chromosomal abnormality, fetus 2 |
| O35.19X3 |
Maternal care for (suspected) chromosomal abnormality in fetus, other chromosomal abnormality, fetus 3 |
| O35.19X4 |
Maternal care for (suspected) chromosomal abnormality in fetus, other chromosomal abnormality, fetus 4 |
| O35.19X5 |
Maternal care for (suspected) chromosomal abnormality in fetus, other chromosomal abnormality, fetus 5 |
| O35.19X9 |
Maternal care for (suspected) chromosomal abnormality in fetus, other chromosomal abnormality, other fetus |
| Q50.32 |
Ovarian streak |
| Q55.4 |
Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate |
| Q90.0 |
Trisomy 21, nonmosaicism (meiotic nondisjunction) |
| Q90.1 |
Trisomy 21, mosaicism (mitotic nondisjunction) |
| Q90.2 |
Trisomy 21, translocation |
| Q90.9 |
Down syndrome, unspecified |
| Q91.0 |
Trisomy 18, nonmosaicism (meiotic nondisjunction) |
| Q91.1 |
Trisomy 18, mosaicism (mitotic nondisjunction) |
| Q91.2 |
Trisomy 18, translocation |
| Q91.3 |
Trisomy 18, unspecified |
| Q91.4 |
Trisomy 13, nonmosaicism (meiotic nondisjunction) |
| Q91.5 |
Trisomy 13, mosaicism (mitotic nondisjunction) |
| Q91.6 |
Trisomy 13, translocation |
| Q91.7 |
Trisomy 13, unspecified |
| Q92.0 |
Whole chromosome trisomy, nonmosaicism (meiotic nondisjunction) |
| Q92.1 |
Whole chromosome trisomy, mosaicism (mitotic nondisjunction) |
| Q92.2 |
Partial trisomy |
| Q92.5 |
Duplications with other complex rearrangements |
| Q92.61 |
Marker chromosomes in normal individual |
| Q92.62 |
Marker chromosomes in abnormal individual |
| Q92.7 |
Triploidy and polyploidy |
| Q92.8 |
Other specified trisomies and partial trisomies of autosomes |
| Q92.9 |
Trisomy and partial trisomy of autosomes, unspecified |
| Q93.0 |
Whole chromosome monosomy, nonmosaicism (meiotic nondisjunction) |
| Q93.1 |
Whole chromosome monosomy, mosaicism (mitotic nondisjunction) |
| Q93.2 |
Chromosome replaced with ring, dicentric or isochromosome |
| Q93.3 |
Deletion of short arm of chromosome 4 |
| Q93.4 |
Deletion of short arm of chromosome 5 |
| Q93.51 |
Angelman syndrome |
| Q93.59 |
Other deletions of part of a chromosome |
| Q93.7 |
Deletions with other complex rearrangements |
| Q93.81 |
Velo-cardio-facial syndrome |
| Q93.88 |
Other microdeletions |
| Q93.89 |
Other deletions from the autosomes |
| Q93.9 |
Deletion from autosomes, unspecified |
| Q95.0 |
Balanced translocation and insertion in normal individual |
| Q95.1 |
Chromosome inversion in normal individual |
| Q95.2 |
Balanced autosomal rearrangement in abnormal individual |
| Q95.3 |
Balanced sex/autosomal rearrangement in abnormal individual |
| Q95.5 |
Individual with autosomal fragile site |
| Q95.8 |
Other balanced rearrangements and structural markers |
| Q95.9 |
Balanced rearrangement and structural marker, unspecified |
| Q96.0 |
Karyotype 45, X |
| Q96.1 |
Karyotype 46, X iso (Xq) |
| Q96.2 |
Karyotype 46, X with abnormal sex chromosome, except iso (Xq) |
| Q96.3 |
Mosaicism, 45, X/46, XX or XY |
| Q96.4 |
Mosaicism, 45, X/other cell line(s) with abnormal sex chromosome |
| Q96.8 |
Other variants of Turner's syndrome |
| Q96.9 |
Turner's syndrome, unspecified |
| Q97.0 |
Karyotype 47, XXX |
| Q97.1 |
Female with more than three X chromosomes |
| Q97.2 |
Mosaicism, lines with various numbers of X chromosomes |
| Q97.3 |
Female with 46, XY karyotype |
| Q97.8 |
Other specified sex chromosome abnormalities, female phenotype |
| Q97.9 |
Sex chromosome abnormality, female phenotype, unspecified |
| Q98.0 |
Klinefelter syndrome karyotype 47, XXY |
| Q98.1 |
Klinefelter syndrome, male with more than two X chromosomes |
| Q98.3 |
Other male with 46, XX karyotype |
| Q98.4 |
Klinefelter syndrome, unspecified |
| Q98.5 |
Karyotype 47, XYY |
| Q98.6 |
Male with structurally abnormal sex chromosome |
| Q98.7 |
Male with sex chromosome mosaicism |
| Q98.8 |
Other specified sex chromosome abnormalities, male phenotype |
| Q98.9 |
Sex chromosome abnormality, male phenotype, unspecified |
| Q99.0 |
Chimera 46, XX/46, XY |
| Q99.1 |
46, XX true hermaphrodite |
| Q99.2 |
Fragile X chromosome |
| Q99.811 |
Usher syndrome, type 1 |
| Q99.812 |
Usher syndrome, type 2 |
| Q99.813 |
Usher syndrome, type 3 |
| Q99.818 |
Other Usher syndrome |
| Q99.89 |
Other specified chromosome abnormalities |
| Q99.9 |
Chromosomal abnormality, unspecified |
| QA0.0101 |
SCN2A-related neurodevelopmental disorder |
| QA0.0102 |
CACNA1A-related neurodevelopmental disorder |
| QA0.0109 |
Neurodevelopmental disorder related to pathogenic variant in other ion channel gene |
| QA0.011 |
Neurodevelopmental disorders, related to pathogenic variants in glutamate receptor genes |
| QA0.012 |
Neurodevelopmental disorders, related to pathogenic variants in other receptor genes |
| QA0.0131 |
SLC6A1-related disorder |
| QA0.0139 |
Neurodevelopmental disorder, related to pathogenic variant in other transporter or solute carrier gene |
| QA0.0141 |
Syntaxin-binding protein 1-related disorder |
| QA0.0142 |
DLG4-related synaptopathy |
| QA0.0149 |
Neurodevelopmental disorder, related to pathogenic variant in other synapse related gene |
| QA0.0151 |
FOXG1 syndrome |
| QA0.0159 |
Neurodevelopmental disorder, related to other genes associated with transcription and gene expression |
| QA0.8 |
Other neurodevelopmental disorders related to pathogenic variants in other specific genes |
| Z13.71 |
Encounter for nonprocreative screening for genetic disease carrier status |
| Z13.79 |
Encounter for other screening for genetic and chromosomal anomalies |
| Z14.8 |
Genetic carrier of other disease |
| Z15.01 |
Genetic susceptibility to malignant neoplasm of breast |
| Z15.02 |
Genetic susceptibility to malignant neoplasm of ovary |
| Z15.03 |
Genetic susceptibility to malignant neoplasm of prostate |
| Z15.04 |
Genetic susceptibility to malignant neoplasm of endometrium |
| Z15.05 |
Genetic susceptibility to malignant neoplasm of fallopian tube(s) |
| Z15.060 |
Genetic susceptibility to colorectal cancer |
| Z15.068 |
Genetic susceptibility to other malignant neoplasm of digestive system |
| Z15.07 |
Genetic susceptibility to malignant neoplasm of urinary tract |
| Z15.09 |
Genetic susceptibility to other malignant neoplasm |
| Z15.3 |
Genetic susceptibility to kidney disease |
| Z15.81 |
Genetic susceptibility to multiple endocrine neoplasia [MEN] |
| Z15.89 |
Genetic susceptibility to other disease |
| Z31.430 |
Encounter of female for testing for genetic disease carrier status for procreative management |
| Z31.438 |
Encounter for other genetic testing of female for procreative management |
| Z31.440 |
Encounter of male for testing for genetic disease carrier status for procreative management |
| Z31.448 |
Encounter for other genetic testing of male for procreative management |
| Z31.5 |
Encounter for procreative genetic counseling |
