AHA Coding Clinic® for ICD-9 - 2004 Issue 4; VOLUMES 1 AND 2 NEW/REVISED DIAGNOSIS CODES
Autosomal Deletion Syndromes
The study of the human genome has allowed the identification of many chromosomal disorders. Deletions of certain portions of a chromosome may result in very serious defects such as mental retardation and multiple congenital anomalies. Effective October 1, 2004, code 758.3, Autosomal deletion syndromes, has been expanded to allow unique codes for specific types of autosomal deletion syndromes. Cri-du-chat syndrome (758.31): This syndrome is due to a deletion on the short arm of the fifth chromosome (5p-). Affected individuals have a high-pitched cry, like a kitten. Associated findings can include mental retardation, microcephaly, dysmorphic features, inguinal hernia...
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Article Overview
This article explains an ICD-9-CM update related to chromosomal anomalies and autosomal deletion syndromes. It is aimed at coders, CDI staff, and other professionals who need to understand the updated structure for these diagnoses, the affected syndrome categories, and the general clinical context behind the revision. The discussion also notes that the update supersedes earlier Coding Clinic advice.
Why This Topic Matters
Chromosomal deletion syndromes can be associated with serious congenital and developmental findings, and coding updates in this area affect how these diagnoses are grouped and tracked in claims and records.
Article Sections
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Clinical background on chromosomal deletions
Introduces chromosomal disorders caused by deletions and summarizes the broad clinical significance of autosomal deletion syndromes.
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Cri-du-chat syndrome
Describes one of the named autosomal deletion syndromes, including its general clinical features and epidemiology.
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Velo-cardio-facial syndrome
Covers another named microdeletion syndrome and its broad multisystem clinical associations.
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Other microdeletions
Addresses additional microdeletion syndromes and gives a general overview of the kinds of findings seen in this category.
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ICD-9-CM code revision summary
Summarizes the coding update for chromosomal anomalies and autosomal deletion syndromes, including the revised code structure and related update notes.
What You Will Learn
- How the article frames autosomal deletion syndromes within chromosomal anomaly reporting
- Which syndrome groups are discussed in the update
- How the article situates the ICD-9-CM revision within prior Coding Clinic guidance
- What general types of clinical findings are associated with the syndromes covered
Who Should Read This
- Medical coders
- Coding auditors
- Clinical documentation integrity specialists
- Health information management professionals
- Genetics-related clinicians
Codes Discussed
Code Ranges Discussed
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