congenital anomaly
Structural or functional abnormality present at birth, also known as a birth defect.
Full Definition
A congenital anomaly is any structural or functional abnormality that is present at birth, regardless of whether it is detected at that time. These conditions may result from genetic factors, environmental exposures, maternal health conditions, or unknown causes. Congenital anomalies can affect any organ system and range from minor cosmetic variations to life-threatening conditions requiring immediate intervention. Major anomalies affect normal function and typically require medical or surgical treatment, while minor anomalies are cosmetic variations that do not significantly impact health. Accurate documentation should use appropriate medical terminology and avoid stigmatizing language when describing these conditions.
Usage
Usage note: Preferred over 'birth defect' in professional contexts; use person-first language.
In Context
- "The prenatal ultrasound detected a congenital anomaly affecting cardiac development." — Maternal-fetal medicine consultation
- "Genetic counseling was recommended following identification of multiple congenital anomalies." — Medical genetics referral