Recognition of a heritable disorder.
The question, Does the patient have a heritable disorder? is often the problem of the primary care physician. This paper presents an approach to the patient or family who possibly has a heritable disorder. Emphasis is placed on the need for appropriate planning to obtain the exact diagnosis and the resources available to the primary care physician. The role and process of genetic counseling in primary care are described.
D000328:Adult; D002648:Child; D000013:Congenital Abnormalities / Q000175:diagnosis; D005192:Family Health; D005194:Family Practice; D005260:Female; D005817:Genetic Counseling; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000000981:diagnostic imaging; D005820:Genetic Testing; D006801:Humans; D007226:Infant Mortality; D007231:Infant, Newborn; D007621:Karyotyping; D008487:Medical History Taking; D008661:Metabolism, Inborn Errors / Q000175:diagnosis; D010808:Physical Examination; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011859:Radiography