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  5. Down syndrome (Q90)

Down syndrome (Q90)

Browse all the diagnosis codes used for down syndrome (Q90). For easy navigation, the diagnosis codes are sorted in alphabetical order and grouped by sections. Each section is clearly marked with its description, and the corresponding three-digit code range. This format makes it simple to browse diagnosis codes in this chapter or section and find what you're looking for. We've also added green checkmark icons to label billable codes, and red warning icons for non-billable ones. This makes it easy to identify which codes can be billed.

Instructional Notations

Code Also

A "code also" note instructs that two codes may be required to fully describe a condition, but this note does not provide sequencing direction.

  • associated physical conditions, such as atrioventricular septal defect Q21.2

Use Additional Code

The “use additional code” indicates that a secondary code could be used to further specify the patient’s condition. This note is not mandatory and is only used if enough information is available to assign an additional code.

  • codes to identify any associated degree of intellectual disabilities F70 F79

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.

Down Syndrome

A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)

Leukemoid Reaction

A peripheral blood picture resembling that of leukemia or indistinguishable from it on the basis of morphologic appearance alone. (Dorland, 27th ed)