Genetic Diseases, Inborn

Medfödda genetiska avvikelser

Svensk definition

Sjukdomar orsakade av genetiska mutationer under embryots eller fostrets utveckling, vilka i vissa fall kan ses först senare i livet. Mutationerna kan ha ärvts från en förälders genom eller kan ha uppkommit in utero.

Engelsk definition

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.

Svenska synonymer

Genetiska sjukdomar Monogent ärftliga sjukdomar Hereditära sjukdomar Ärftliga sjukdomar Genetiska avvikelser

Engelska synonymer

Disease, Inborn Genetic Diseases, Inborn Genetic Genetic Disease, Inborn Inborn Genetic Disease Inborn Genetic Diseases Hereditary Diseases Hereditary Disease Disease, Hereditary Diseases, Hereditary Genetic Disorders Disorder, Genetic Disorders, Genetic Genetic Disorder Genetic Diseases Disease, Genetic Diseases, Genetic Genetic Disease Single-Gene Defects Defect, Single-Gene Defects, Single-Gene Single Gene Defects Single-Gene Defect