XVII: Congenital malformations, deformations and chromosomal abnormalities
Q90-Q99: Chromosomal abnormalities, not elsewhere classified
Chromosomal abnormalities refer to changes in the standard 23 pairs of human chromosomes that occur when there is an error during cell division, typically in the egg or sperm. This group of conditions can cause a variety of physical and intellectual anomalies. Chromosomal abnormalities can be inherited but more often they occur randomly during the formation of reproductive cells. Common types of chromosomal abnormalities include Down syndrome (trisomy 21), Turner syndrome (missing or incomplete X chromosome) and Klinefelter syndrome (an extra X chromosome in males). Symptoms can vary broadly depending on the specific type of abnormality but may include physical deformities, growth delays, learning disabilities and problems with the heart, brain, and other vital organs. The progression of these diseases can vary, some may worsen over time while others remain stable. Early diagnosis can help manage the symptoms and improve the quality of life of affected individuals.
Subcodes of Q90-Q99:
- Q90: Down syndrome
- Q91: Edwards syndrome and Patau syndrome
- Q92: Other trisomies and partial trisomies of the autosomes, not elsewhere classified
- Q93: Monosomies and deletions from the autosomes, not elsewhere classified
- Q95: Balanced rearrangements and structural markers, not elsewhere classified
- Q96: Turner syndrome
- Q97: Other sex chromosome abnormalities, female phenotype, not elsewhere classified
- Q98: Other sex chromosome abnormalities, male phenotype, not elsewhere classified
- Q99: Other chromosome abnormalities, not elsewhere classified
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