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.
Genetic Diseases, Inborn
Medfödda genetiska avvikelser
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