Q00–Q99: Congenital Malformations, Deformations and Chromosomal Abnormalities
Chapter 17 of ICD-10-CM 2027, 1,095 codes in 12 blocks.
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Chapter instructions
Excludes2: not included here, code separately if applicable
- inborn errors of metabolism (E70-E88)
Codes in this chapter
All codesBillable only900 results
- Q96.0Karyotype 45, X
- Q96.1Karyotype 46, X iso (Xq)
- Q96.2Karyotype 46, X with abnormal sex chromosome, except iso (Xq)
- Q96.3Mosaicism, 45, X/46, XX or XY
- Q96.4Mosaicism, 45, X/other cell line(s) with abnormal sex chromosome
- Q96.8Other variants of Turner's syndrome
- Q96.9Turner's syndrome, unspecified
- Q97.0Karyotype 47, XXX
- Q97.1Female with more than three X chromosomes
- Q97.2Mosaicism, lines with various numbers of X chromosomes
- Q97.3Female with 46, XY karyotype
- Q97.8Other specified sex chromosome abnormalities, female phenotype
- Q97.9Sex chromosome abnormality, female phenotype, unspecified
- Q98.0Klinefelter syndrome karyotype 47, XXY
- Q98.1Klinefelter syndrome, male with more than two X chromosomes
- Q98.3Other male with 46, XX karyotype
- Q98.4Klinefelter syndrome, unspecified
- Q98.5Karyotype 47, XYY
- Q98.6Male with structurally abnormal sex chromosome
- Q98.7Male with sex chromosome mosaicism
- Q98.8Other specified sex chromosome abnormalities, male phenotype
- Q98.9Sex chromosome abnormality, male phenotype, unspecified
- Q99.0Chimera 46, XX/46, XY
- Q99.146, XX true hermaphrodite
- Q99.2Fragile X chromosome
- Q99.811Usher syndrome, type 1
- Q99.812Usher syndrome, type 2
- Q99.813Usher syndrome, type 3
- Q99.818Other Usher syndrome
- Q99.819Usher syndrome, unspecified
- Q99.89Other specified chromosome abnormalities
- Q99.9Chromosomal abnormality, unspecified
- QA0.0101SCN2A-related neurodevelopmental disorder
- QA0.0102CACNA1A-related neurodevelopmental disorder
- QA0.0109Neurodevelopmental disorder related to pathogenic variant in other ion channel gene
- QA0.011Neurodevelopmental disorders, related to pathogenic variants in glutamate receptor genes
- QA0.012Neurodevelopmental disorders, related to pathogenic variants in other receptor genes
- QA0.0131SLC6A1-related disorder
- QA0.0139Neurodevelopmental disorder, related to pathogenic variant in other transporter or solute carrier gene
- QA0.0141Syntaxin-binding protein 1-related disorder
- QA0.0142DLG4-related synaptopathy
- QA0.0149Neurodevelopmental disorder, related to pathogenic variant in other synapse related gene
- QA0.0151FOXG1 syndrome
- QA0.0159Neurodevelopmental disorder, related to other genes associated with transcription and gene expression
- QA0.8Other neurodevelopmental disorders related to pathogenic variants in other specific genes
- QA1.71Lynch syndrome
- QA1.790Familial cancer syndrome with pathogenic BRCA1 mutation
- QA1.791Familial cancer syndrome with pathogenic BRCA2 mutation
- QA1.792Li Fraumeni syndrome
- QA1.798Other inherited neoplasm predisposition syndrome of multiple systems
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