2024 ICD-10-CM Diagnosis Code Q99.8

Other specified chromosome abnormalities

ICD-10-CM Code:
Q99.8
ICD-10 Code for:
Other specified chromosome abnormalities
Is Billable?
Yes - Valid for Submission
Chronic Condition Indicator: [1]
Chronic
Code Navigator:

Code Classification

  • Congenital malformations, deformations and chromosomal abnormalities
    (Q00-Q99)
    • Chromosomal abnormalities, not elsewhere classified
      (Q90-Q99)
      • Other chromosome abnormalities, not elsewhere classified
        (Q99)

Q99.8 is a billable diagnosis code used to specify a medical diagnosis of other specified chromosome abnormalities. The code is valid during the current fiscal year for the submission of HIPAA-covered transactions from October 01, 2023 through September 30, 2024. The code is exempt from present on admission (POA) reporting for inpatient admissions to general acute care hospitals.

Approximate Synonyms

The following clinical terms are approximate synonyms or lay terms that might be used to identify the correct diagnosis code:

  • 16p12.1p12.3 triplication syndrome
  • 49,XXXYY syndrome
  • Abnormal spermatogenesis
  • Acute myeloid leukemia with CEBPA somatic mutations
  • Acute myeloid leukemia with inv; RPN1-EVI1
  • Acute myeloid leukemia with myelodysplasia-related changes
  • Acute myeloid leukemia with NPM1 somatic mutation
  • Additional sex chromosome
  • Anomaly of chromosome pair
  • Anomaly of chromosome X
  • Anomaly of chromosome Y
  • Anomaly of sex chromosome
  • Ataxia-telangiectasia-like disorder
  • Atypical Norrie disease due to monosomy Xp11.3
  • Autosomal aneuploidy
  • Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
  • Autosomal dominant congenital fiber-type disproportion myopathy due to ACTA1 mutation
  • Autosomal dominant congenital fiber-type disproportion myopathy due to TPM3 mutation
  • Autosomal recessive congenital fiber-type disproportion myopathy due to ACTA1 mutation
  • Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation
  • Biallelic RPE65 mutation associated retinal dystrophy
  • Café au lait spots
  • Catecholaminergic polymorphic ventricular tachycardia
  • Catecholaminergic polymorphic ventricular tachycardia due to calsequestrin mutation
  • Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
  • Childhood obesity
  • Chimera
  • CHMP2B-related frontotemporal dementia
  • Chromosomal alterations of group A
  • Chromosomal alterations of group B
  • Chromosomal alterations of group C and X
  • Chromosomal alterations of group D
  • Chromosomal alterations of group E
  • Chromosomal alterations of group F
  • Chromosomal alterations of group G and Y
  • Chromosome 18 syndromes and antibody deficiency
  • Chromosome 22 abnormalities with hypogammaglobulinemia
  • Chromosome Xq27.3q28 duplication syndrome
  • Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations
  • Combined immunodeficiency due to OX40 deficiency
  • Congenital cleft larynx
  • Congenital fiber-type disproportion myopathy due to ACTA1 mutation
  • Congenital fiber-type disproportion myopathy due to ACTA1 mutation
  • Congenital fiber-type disproportion myopathy due to MYH7 mutation
  • Congenital fiber-type disproportion myopathy due to TPM3 mutation
  • Congenital hypothyroidism due to dual oxidase maturation factor 2
  • Congenital hypothyroidism due to symporter mutation
  • Congenital hypothyroidism due to thyroglobulin mutation
  • Congenital hypothyroidism due to thyroid deiodinase mutation
  • Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation
  • Congenital leptin deficiency
  • Deletion of X-chromosome and hypogammaglobulinemia
  • DNA instability syndrome
  • Duplication of chromosome
  • Emanuel syndrome
  • Emberger syndrome
  • Epigenetic disorder
  • Extra unidentified structurally abnormal chromosome
  • Familial cardiomyopathy
  • Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
  • Familial hypercholesterolemia
  • Familial hypercholesterolemia
  • Familial hypercholesterolemia due to heterozygous LDL receptor mutation
  • Familial hypercholesterolemia due to homozygous LDL receptor mutation
  • Finding of spermatozoa morphology
  • Genetic non-syndromic obesity
  • Group chromosomal alteration
  • Gynandromorphism syndrome
  • Hereditary disorder of musculoskeletal system
  • Hereditary hemoglobinopathy due to globin chain mutation
  • Hereditary retinal dystrophy primarily involving retinal pigment epithelium
  • Heritable pulmonary arterial hypertension
  • Heritable pulmonary arterial hypertension due to ALK1 or endoglin mutation
  • Heterologous chimera
  • Homologous chimera
  • Hypertension due to gain-of-function mutation in mineralocorticoid receptor
  • Imprinting error
  • Interleukin-1 receptor-associated kinase 4 deficiency
  • Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome
  • Isochromosomy Yp
  • Isochromosomy Yq
  • Isologous chimera
  • Lissencephaly due to TUBA1A mutation
  • Low density lipoprotein receptor adaptor protein 1 mutation
  • Low density lipoprotein receptor mutation
  • Male infertility of genetic origin
  • Male infertility of genetic origin
  • Male infertility of genetic origin
  • Male infertility with azoospermia due to single gene mutation
  • Male infertility with oligozoospermia due to single gene mutation
  • Male infertility with teratozoospermia due to single gene mutation
  • Maternal imprinting error
  • Maternal uniparental disomy of chromosome 1
  • Maternal uniparental disomy of chromosome 11
  • Maternal uniparental disomy of chromosome 13
  • Maternal uniparental disomy of chromosome 14
  • Maternal uniparental disomy of chromosome 15
  • Maternal uniparental disomy of chromosome 16
  • Maternal uniparental disomy of chromosome 2
  • Maternal uniparental disomy of chromosome 20
  • Maternal uniparental disomy of chromosome 21
  • Maternal uniparental disomy of chromosome 22
  • Maternal uniparental disomy of chromosome 4
  • Maternal uniparental disomy of chromosome 6
  • Maternal uniparental disomy of chromosome 7
  • Maternal uniparental disomy of chromosome 9
  • Maternal uniparental disomy of chromosome X
  • Megakaryoblastic acute myeloid leukemia with t
  • Mendelian disorders
  • Microduplication Xp11.22p11.23 syndrome
  • Mosaic genome-wide paternal uniparental disomy
  • Mosaic variegated aneuploidy syndrome
  • Multiple malformation syndrome, moderate short stature, facial
  • Oligozoospermia
  • Oligozoospermia
  • Opitz-Frias syndrome
  • Partial chromosome Y deletion
  • Partial tetrasomy of chromosome 9
  • Paternal imprinting error
  • Paternal uniparental disomy of chromosome 1
  • Paternal uniparental disomy of chromosome 11
  • Paternal uniparental disomy of chromosome 13
  • Paternal uniparental disomy of chromosome 14
  • Paternal uniparental disomy of chromosome 15
  • Paternal uniparental disomy of chromosome 20
  • Paternal uniparental disomy of chromosome 21
  • Paternal uniparental disomy of chromosome 4
  • Paternal uniparental disomy of chromosome 5
  • Paternal uniparental disomy of chromosome 6
  • Paternal uniparental disomy of chromosome 7
  • Paternal uniparental disomy of chromosome X
  • Pelizaeus Merzbacher like disease
  • Pelizaeus Merzbacher like disease
  • Pelizaeus Merzbacher like disease
  • Pelizaeus Merzbacher like disease
  • Pelizaeus Merzbacher like disease due to AIMP1 mutation
  • Pelizaeus Merzbacher like disease due to GJC2 mutation
  • Pelizaeus Merzbacher like disease due to HSPD1 mutation
  • Pelizaeus Merzbacher like disease due to SLC16A2 mutation
  • Penile hypospadias
  • Poly Y syndrome
  • Polygenic hereditary disorder
  • Polymicrogyria due to TUBB2B mutation
  • Radiation chimera
  • Recombinant chromosome 8 syndrome
  • Sex chromosome aneuploidy
  • Sex chromosome mosaicism
  • Sex-linked hereditary disorder
  • Susceptibility to respiratory infection associated with CD8alpha chain mutation
  • Symptomatic form of Coffin-Lowry syndrome in female carrier
  • Syndromic X-linked intellectual disability due to JARID1C mutation
  • Teratozoospermia
  • Tetrasomy 11q24.1
  • Tetrasomy 12p syndrome
  • Tetrasomy 15q
  • Tetrasomy 18p
  • Tetrasomy 21
  • Tetrasomy 5p mosaicism
  • Tetrasomy 5p syndrome
  • Tetrasomy of short arm of chromosome 9
  • Trinucleotide repeat disorder
  • Unbalanced translocation and insertion
  • Unbalanced translocation of chromosome
  • Uniparental disomy
  • Uniparental disomy of maternal origin
  • Uniparental disomy of paternal origin
  • Ventricular tachycardia, polymorphic
  • X small rings
  • X-linked hereditary disease
  • Xp22.13p22.2 duplication syndrome
  • Xq12-q13.3 duplication syndrome
  • Xq25 microduplication syndrome

Clinical Classification

Clinical Information

  • Chimera

    an individual that contains cell populations derived from different zygotes.
  • Radiation Chimera

    an organism whose body contains cell populations of different genotypes as a result of the transplantation of donor cells after sufficient ionizing radiation to destroy the mature recipient's cells which would otherwise reject the donor cells.
  • Transplantation Chimera

    an organism that, as a result of transplantation of donor tissue or cells, consists of two or more cell lines descended from at least two zygotes. this state may result in the induction of donor-specific transplantation tolerance.
  • Asthenozoospermia

    a condition in which the percentage of motile sperm is abnormally low.
  • Teratozoospermia

    conditions in which sperm show abnormal morphology.
  • Uniparental Disomy

    the presence in a cell of two paired chromosomes from the same parent, with no chromosome of that pair from the other parent. this chromosome composition stems from non-disjunction (nondisjunction, genetic) events during meiosis. the disomy may be composed of both homologous chromosomes from one parent (heterodisomy) or a duplicate of one chromosome (isodisomy).
  • Transplantation

    transference of a tissue or organ from either an alive or deceased donor, within an individual, between individuals of the same species, or between individuals of different species.
  • Transplantation Tolerance

    an induced state of non-reactivity to grafted tissue from a donor organism that would ordinarily trigger a cell-mediated or humoral immune response.
  • Xq25 Microduplication Syndrome

    an x-linked genetic condition caused by duplication of a small segment of xq25, which may encompass the gria3 and stag2 genes, encoding glutamate receptor 3 and cohesin subunit sa-2. it is characterized by intellectual disability and distinctive facial dysmorphisms.
  • Maternal Uniparental Disomy Chromosome 14 Syndrome|Temple Syndrome|Temple Syndrome|mUPD14 Syndrome|mUPD14 Syndrome

    a cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father.
  • Uniparental Disomy

    a condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. it results in developmental abnormalities or rare recessive disorders. examples of uniparental disomy include the prader-willi syndrome and angelman syndrome.

Index to Diseases and Injuries References

The following annotation back-references for this diagnosis code are found in the injuries and diseases index. The Index to Diseases and Injuries is an alphabetical listing of medical terms, with each term mapped to one or more ICD-10-CM code(s).

Present on Admission (POA)

Q99.8 is exempt from POA reporting - The Present on Admission (POA) indicator is used for diagnosis codes included in claims involving inpatient admissions to general acute care hospitals. POA indicators must be reported to CMS on each claim to facilitate the grouping of diagnoses codes into the proper Diagnostic Related Groups (DRG). CMS publishes a listing of specific diagnosis codes that are exempt from the POA reporting requirement. Review other POA exempt codes here.

CMS POA Indicator Options and Definitions

POA IndicatorReason for CodeCMS will pay the CC/MCC DRG?
YDiagnosis was present at time of inpatient admission.YES
NDiagnosis was not present at time of inpatient admission.NO
UDocumentation insufficient to determine if the condition was present at the time of inpatient admission.NO
WClinically undetermined - unable to clinically determine whether the condition was present at the time of inpatient admission.YES
1Unreported/Not used - Exempt from POA reporting. NO

Convert Q99.8 to ICD-9-CM

  • ICD-9-CM Code: 758.81 - Oth cond due to sex chrm
    Approximate Flag - The approximate mapping means there is not an exact match between the ICD-10 and ICD-9 codes and the mapped code is not a precise representation of the original code.
  • ICD-9-CM Code: 758.89 - Oth con d/t chrm anm NEC
    Approximate Flag - The approximate mapping means there is not an exact match between the ICD-10 and ICD-9 codes and the mapped code is not a precise representation of the original code.

Patient Education


Genetic Disorders

Genes are the building blocks of heredity. They are passed from parent to child. They hold DNA, the instructions for making proteins. Proteins do most of the work in cells. They move molecules from one place to another, build structures, break down toxins, and do many other maintenance jobs.

Sometimes there is a mutation, a change in a gene or genes. The mutation changes the gene's instructions for making a protein, so the protein does not work properly or is missing entirely. This can cause a medical condition called a genetic disorder.

You can inherit a gene mutation from one or both parents. A mutation can also happen during your lifetime.

There are three types of genetic disorders:

  • Single-gene disorders, where a mutation affects one gene. Sickle cell anemia is an example.
  • Chromosomal disorders, where chromosomes (or parts of chromosomes) are missing or changed. Chromosomes are the structures that hold our genes. Down syndrome is a chromosomal disorder.
  • Complex disorders, where there are mutations in two or more genes. Often your lifestyle and environment also play a role. Colon cancer is an example.

Genetic tests on blood and other tissue can identify genetic disorders.

NIH: National Library of Medicine


[Learn More in MedlinePlus]

Code History

  • FY 2024 - No Change, effective from 10/1/2023 through 9/30/2024
  • FY 2023 - No Change, effective from 10/1/2022 through 9/30/2023
  • FY 2022 - No Change, effective from 10/1/2021 through 9/30/2022
  • FY 2021 - No Change, effective from 10/1/2020 through 9/30/2021
  • FY 2020 - No Change, effective from 10/1/2019 through 9/30/2020
  • FY 2019 - No Change, effective from 10/1/2018 through 9/30/2019
  • FY 2018 - No Change, effective from 10/1/2017 through 9/30/2018
  • FY 2017 - No Change, effective from 10/1/2016 through 9/30/2017
  • FY 2016 - New Code, effective from 10/1/2015 through 9/30/2016. This was the first year ICD-10-CM was implemented into the HIPAA code set.

Footnotes

[1] Chronic - a chronic condition code indicates a condition lasting 12 months or longer and its effect on the patient based on one or both of the following criteria:

  • The condition results in the need for ongoing intervention with medical products,treatment, services, and special equipment
  • The condition places limitations on self-care, independent living, and social interactions.