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Congenital anomaly

Identifying and definitional attributes

Metadata item type:Help on this termGlossary Item
Synonymous names:Help on this termBirth defect; developmental anomaly; congenital malformation
METeOR identifier:Help on this term554801
Registration status:Help on this termWA Health, Endorsed 04/03/2014
Definition:Help on this term

A congenital anomaly is one or more of a diverse group of structural or functional disorders of prenatal origin which can be caused by single gene defects, chromosomal disorders, multifactorial inheritance, environmental teratogens and micronutrient deficiencies. An anomaly is a departure from normal development.

A congenital anomaly can be present at conception or occur before the end of pregnancy. They may be diagnosed during pregnancy, or after stillbirth or termination of pregnancy, or after live birth. The anomaly diagnosed in pregnancy may be the reason for a termination of pregnancy.

Source and reference attributes

Submitting organisation:Help on this termWA Health
Origin:Help on this term

This glossary term is based on publications by the World Health Organisation and the Western Australian Register of Developmental Anomalies.

Reference documents:Help on this term

The Western Australian Register of Development Anomalies provides more information at

Further information from the World Health Organisation can be found at

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