Identify key characteristics and ICD-10-CM coding for the rare genetic condition, Cornelia de Lange syndrome

June 19th, 2018

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Note:  The following article synopsis was NOT provided by HCPro. It was created by Find-A-Code/innoviHealth.

Article Overview

This article explains the broad clinical picture of Cornelia de Lange syndrome, a rare genetic condition, and summarizes how diagnosis and testing are discussed in relation to coding. It is intended for coders and other healthcare professionals who need a general understanding of the condition, associated evaluation and laboratory work, and the diagnosis coding context referenced in the article.

Why This Topic Matters

Because the condition is rare and may be misdiagnosed, coding professionals need a clear overview of its presentation and the general documentation and diagnosis-coding topics tied to confirmed or suspected cases.

Article Sections

  1. Overview of Cornelia de Lange syndrome

    Introduces the condition, its rarity, historical background, and broad recognition issues. It also notes common names associated with the disorder and general epidemiology.

  2. Signs and symptoms

    Summarizes the broad physical, developmental, and behavioral features discussed in relation to the condition. This section covers the kinds of manifestations that may affect multiple body systems.

  3. Causes

    Describes the genetic basis of the disorder and the general inheritance patterns mentioned in the article. It also outlines the genes and molecular context referenced by the author.

  4. Common procedures performed to treat a CdLS diagnosis

    Covers the general types of evaluation and laboratory testing discussed for diagnosing the condition. It also addresses the article’s discussion of molecular pathology testing and related coding references.

  5. Assignment of appropriate diagnosis codes

    Explains the article’s discussion of diagnosis coding for confirmed or suspected cases and the general context for reporting associated manifestations. It focuses on the coding topic area without reproducing specific instructions.

What You Will Learn

  • How the article frames the clinical presentation of Cornelia de Lange syndrome
  • What broad symptom groups and body systems are discussed
  • How the article connects genetic testing and molecular pathology to diagnosis
  • What general ICD-10-CM coding topics are addressed for confirmed and suspected cases
  • Which coding organizations and guidance sources are referenced in the discussion

Who Should Read This

  • Medical coders
  • Coding auditors
  • Clinical documentation specialists
  • Physician practice staff
  • Healthcare professionals working with rare genetic conditions

Codes Discussed

  • CPT: 81479
  • ICD-10-CM: Q87.1
  • ICD-10-CM: Q37.4

Code Ranges Discussed

  • ICD-10-CM: Q37

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