Agenesis and aplasia of cervix
ICD-10 Q51.5 is a billable code used to indicate a diagnosis of agenesis and aplasia of cervix.
Agenesis and aplasia of the cervix is a rare congenital malformation characterized by the complete or partial absence of the cervix, which can lead to significant reproductive and urinary complications. This condition is often associated with other congenital anomalies of the reproductive system, such as Müllerian duct anomalies, which can affect the uterus and vagina. Patients may present with symptoms such as primary amenorrhea, pelvic pain, or infertility. Diagnosis typically involves imaging studies such as ultrasound or MRI to assess the anatomy of the reproductive tract. Management may require a multidisciplinary approach, including gynecological, urological, and possibly surgical interventions to address associated anomalies and improve reproductive outcomes. Understanding the implications of this condition is crucial for pediatricians and geneticists, as early diagnosis and intervention can significantly impact the quality of life and reproductive health of affected individuals.
Pediatric documentation should include detailed growth and development assessments, family history of congenital conditions, and any associated symptoms or complications.
Common scenarios include evaluation of primary amenorrhea in adolescent females, assessment of pelvic pain, and referral for fertility evaluation.
Pediatric coders must be aware of the developmental implications of congenital malformations and the need for long-term follow-up.
Genetic documentation should include family history, genetic testing results, and any syndromic associations with the congenital condition.
Genetic counseling for families with a history of congenital malformations, evaluation of chromosomal abnormalities, and syndromic presentations.
Genetic coders should ensure accurate coding of any chromosomal abnormalities that may be associated with agenesis and aplasia of the cervix.
Used in cases where surgical intervention is necessary due to severe malformations.
Documentation must include indications for surgery and any associated findings.
Gynecological specialists should ensure that all relevant anatomical details are documented.
Common associated conditions include Müllerian duct anomalies, which can affect the uterus and vagina, as well as other congenital malformations of the genital tract. Genetic syndromes may also be present, necessitating thorough evaluation.
