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Published on: November 4, 2025
Evaluation of ICD-9-CM codes for craniofacial microsomia
Daniela V Luquetti1, Babette S Saltzman, Daniela Vivaldi
1Seattle Children's Hospital, Craniofacial Center, Seattle, Washington 98101, USA. daniel.luquetti@seattlechildrens.org
Background:
Craniofacial microsomia (CFM) is a congenital condition characterized by microtia and mandibular underdevelopment. Healthcare databases and birth defects surveillance programs could be used to improve knowledge of CFM. However, no specific International Classification of Diseases, 9th Revision, Clinical Modification (ICD-9-CM) code exists for this condition, which makes standardized data collection challenging. Our aim was to evaluate the validity of existing ICD-9-CM codes to identify individuals with CFM.
Methods:
Study sample eligibility criteria were developed by an expert panel and matched to 11 ICD-9-CM codes. We queried hospital discharge data from two craniofacial centers and identified a total of 12,254 individuals who had ≥1 potentially CFM-related code(s). We reviewed all (n = 799) medical records identified at the University of North Carolina (UNC) and 500 randomly selected records at Seattle Children's Hospital (SCH). Individuals were classified as a CFM case or non-case.
Results:
Thirty-two individuals (6%) at SCH and 93 (12%) at UNC met the CFM eligibility criteria. At both centers, 59% of cases and 95% of non-cases had only one code assigned. At both centers, the most frequent codes were 744.23 (microtia), 754.0 and 756.0 (nonspecific codes), and the code 744.23 had a positive predictive value (PPV) >80% and sensitivity >70%. The code 754.0 had a sensitivity of 3% (PPV <1%) at SCH and 36% (PPV = 5%) at UNC, whereas 756.0 had a sensitivity of 38% (PPV = 5%) at SCH and 18% (PPV = 26%) at UNC.
Conclusions:
These findings suggest the need for a specific CFM code to facilitate CFM surveillance and research.
Insights
A specific code for craniofacial microsomia (CFM) is needed for accurate surveillance and research. Current International Classification of Diseases, 9th Revision, Clinical Modification (ICD-9-CM) codes are insufficient for identifying CFM cases effectively.
Area of Science:
- Medical informatics
- Genetics and genomics
- Public health
Background:
- Craniofacial microsomia (CFM) is a congenital condition involving microtia and mandibular underdevelopment.
- Accurate identification of CFM cases is crucial for surveillance and research.
- The absence of a specific International Classification of Diseases, 9th Revision, Clinical Modification (ICD-9-CM) code hinders standardized data collection for CFM.
Purpose of the Study:
- To evaluate the validity of existing ICD-9-CM codes for identifying individuals with craniofacial microsomia.
- To assess the effectiveness of current coding practices in capturing CFM cases within healthcare databases.
Main Methods:
- Developed eligibility criteria for CFM cases by an expert panel.
- Queried hospital discharge data from two craniofacial centers using 11 potential ICD-9-CM codes.
- Reviewed medical records of identified individuals to classify them as CFM cases or non-cases.
Main Results:
- Only a small percentage of individuals identified by existing codes met CFM eligibility criteria (6% at SCH, 12% at UNC).
- The ICD-9-CM code 744.23 (microtia) demonstrated the highest positive predictive value (>80%) and sensitivity (>70%) among evaluated codes.
- Nonspecific codes (754.0, 756.0) showed low sensitivity and low positive predictive values for identifying CFM cases.
Conclusions:
- Existing ICD-9-CM codes are inadequate for precise craniofacial microsomia surveillance.
- A dedicated CFM code is necessary to improve data accuracy for research and public health initiatives.
- Enhanced coding systems are essential for better understanding and managing craniofacial microsomia.
