Congenital, Hereditary, and Neonatal Diseases and Abnormalities
A Medical Subject Headings (MeSH) category covering diseases and abnormalities present at birth, inherited, or arising during the neonatal period.
Congenital Disorder: A condition present at birth, whether caused by genetic, developmental, environmental, or unknown factors. This category includes conditions present at birth, but congenital status does not imply inheritance.
Birth Defects Surveillance: The systematic collection and analysis of data on birth defects in a defined population. Surveillance tracks conditions represented in the congenital portion of this category.
Acquired Disease: A disease that develops after birth rather than being present from birth or inherited. It contrasts with the category's defining focus on congenital, inherited, and neonatal conditions.
Down Syndrome: A chromosomal condition usually caused by an extra copy of chromosome 21. It is a congenital condition that commonly results from a chromosomal difference.
Genetic Disorder: A disease caused in whole or part by changes in genetic material. Inherited diseases form one part of the category, alongside congenital and neonatal conditions.
Prenatal Diagnosis: The assessment of a fetus for disease or developmental abnormalities before birth. Prenatal diagnosis can identify conditions classified here before they become clinically apparent.
Prematurity: Birth before 37 completed weeks of gestation. Prematurity is a birth circumstance, not itself necessarily a congenital or inherited disease.
Cystic Fibrosis: An inherited disorder caused by pathogenic variants in both copies of the CFTR gene. It exemplifies an inherited disease included in the category.
Neonatal Disease: A disease occurring during the neonatal period, conventionally the first 28 days after birth. The category includes disorders defined by their occurrence in this early period.
Newborn Screening: Testing newborns to detect selected disorders before symptoms develop. Screening targets some inherited and neonatal diseases covered by the category.