Program Operations Manual System (POMS)
TN 57 (08-23)
COMPASSIONATE ALLOWANCE INFORMATION
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TRISOMY
9
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ALTERNATE NAMES
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Full Trisomy 9: Full Trisomy 9
Mosaic Trisomy 9: Mosaic Trisomy 9; Mosaicism Syndrome
Partial Trisomy 9: Dup(9p) Syndrome; Duplication 9p Syndrome; Rethore Syndrome; Partial Trisomy 9;
Trisomy 9p
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DESCRIPTION
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Trisomy 9 is a congenital impairment in which the body’s cells contain an extra copy of all
or part of Chromosome 9, resulting in serious effects on growth and function of a
broad array of body systems.
Signs and symptoms vary from person to person depending on the percentage of affected
cells, and what portion of the chromosome is duplicated. Typical signs and symptoms
include severe intellectual deficit, developmental delay, growth issues, congenital
heart defects, and craniofacial abnormalities.
There are three types of Trisomy 9:
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When all cells contain three copies of the extra chromosome, this is known as Full
Trisomy 9.
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Cases in which some cells contain an additional copy of the entire chromosome are
designated as Mosaic Trisomy 9.
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Cases in which cells have two full copies of Chromosome 9 and part of an additional
third partial copy are designated as Partial Trisomy 9.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing: Trisomy 9 can be diagnosed prenatally via ultrasound or fetal tissue sampling. Postnatal
confirmation can involve chromosomal testing and physical examination.
Physical findings: Physical signs and symptoms of Trisomy 9 may include:
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Misshapen skull and skeletal structure;
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Hearing and vision impairment;
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Difficulty with balance and mobility;
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Structural malformations of the heart; or
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Intellectual and developmental delay.
ICD-9: 758.5
ICD-10: Q92.1 (Mosaic); Q92.9 (Full)
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PROGRESSION
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Developmental effects of Trisomy 9 can be observed in the fetus prior to birth.
Full Trisomy 9 is almost always fatal, causing a miscarriage.
Mosaic Trisomy 9 usually results in death in early infancy, and rarely, some infants
live beyond the first year of life.
Partial Trisomy 9 does not always affect the life expectancy of an infant. With appropriate
management, individuals with Partial Trisomy 9 may survive to adulthood. However,
infants with Partial Trisomy 9 have a range of health problems and developmental delays.
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TREATMENT
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There is no cure for Trisomy 9. Treatment is symptomatic and supportive.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for Evaluation:
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Clinical history and examination that describes the diagnostic features of the impairment;
and
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Laboratory tests confirming presence and extent of chromosomal duplication.
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTING
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REMARKS
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Meets
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100.04
100.05
104.06
110.08
112.02
112.05
112.14
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Equals
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* Adjudicators may, at their discretion, use the Medical Evidence of Record or the
listings suggested to evaluate the claim. However, the decision to allow or deny the
claim rests with the adjudicator.
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