Other sex chromosome abnormalities, female phenotype, not elsewhere classified (Q97)
The ICD-10 code Q97 covers various rare sex chromosome abnormalities in individuals with a female phenotype that are not classified elsewhere. These codes identify different chromosomal patterns, such as 47, XXX (Q97.0) known as Triple X syndrome, and other complex variations involving multiple X chromosomes or mosaicism.
This section is used to document conditions like Trisomy X syndrome (Q97.0), where there are three X chromosomes; Four or more X chromosomes (Q97.1), sometimes called Four X or Penta X syndrome; and mosaicism with different X chromosome combinations (Q97.2). It also includes females with a 46,XY karyotype (Q97.3), a disorder involving sex development variations despite a typically male chromosome pattern. Other specified abnormalities (Q97.8) and unspecified female sex chromosome anomalies (Q97.9) are also covered. This classification helps medical coders precisely capture and report chromosomal disorders related to female phenotypes, facilitating accurate diagnosis and research.
Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
Chromosomal abnormalities, not elsewhere classified (Q90-Q99)
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified
- 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
Other sex chromosome abnormalities, female phenotype, not elsewhere classified (Q97)
Instructional Notations
Type 1 Excludes
A type 1 excludes note is a pure excludes note. It means "NOT CODED HERE!" An Excludes1 note indicates that the code excluded should never be used at the same time as the code above the Excludes1 note. An Excludes1 is used when two conditions cannot occur together, such as a congenital form versus an acquired form of the same condition.
- Turner's syndrome Q96
Clinical Terms
The following clinical terms provide additional context, helping users better understand the clinical background and common associations for each diagnosis listed in this section. Including related terms alongside ICD-10-CM codes supports coders, billers, and healthcare professionals in improving accuracy, enhancing documentation, and facilitating research or patient education.
Gigantism
The condition of accelerated and excessive GROWTH in children or adolescents who are exposed to excess HUMAN GROWTH HORMONE before the closure of EPIPHYSES. It is usually caused by somatotroph hyperplasia or a GROWTH HORMONE-SECRETING PITUITARY ADENOMA. These patients are of abnormally tall stature, more than 3 standard deviations above normal mean height for age.
Sotos Syndrome
Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive development. Other associated features include advanced bone age, seizures, NEONATAL JAUNDICE; HYPOTONIA; and SCOLIOSIS. It is also associated with increased risk of developing neoplasms in adulthood. Mutations in the NSD1 protein and its HAPLOINSUFFICIENCY are associated with the syndrome.
