Từ điển y khoa
Thuật ngữ y khoa chuẩn hóa theo MeSH, ICD-11, SNOMED CT.
62,341 terms indexed
A mental state characterized by bewilderment, emotional disturbance, lack of clear thinking, and perceptual disorientation.
Malformations of organs or body parts during development in utero.
mutation on CTDP1
mutation in GCS1
mutation in SLC35A1
mutation in COG8
mutation of B4GALT1
mutation in dolichol kinase (DOLK)
A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation.
mutation in NSDHL
A familial, nontransient HYPOGLYCEMIA with defects in negative feedback of GLUCOSE-regulated INSULIN release. Clinical phenotypes include HYPOGLYCEMIA; HYPERINSULINEMIA; SEIZURES; COMA; and often large BIRTH WEIGHT. Several sub-types exist with the most common, type 1, associated with mutations on an ATP-BINDING CASSETTE TRANSPORTERS (subfamily C, member 8).
A condition in infancy or early childhood due to an in-utero deficiency of THYROID HORMONES that can be caused by genetic or environmental factors, such as thyroid dysgenesis or HYPOTHYROIDISM in infants of mothers treated with THIOURACIL during pregnancy. Endemic cretinism is the result of iodine deficiency. Clinical symptoms include severe MENTAL RETARDATION, impaired skeletal development, short stature, and MYXEDEMA.
A congenital syndrome characterized by prenatal overgrowth, hemihypertrophy and facial asymmetry, multiple vascular malformations, splenic cysts, skeletal abnormalities, and epidermal nevi. It is caused by somatic mosaic mutations in the PHOSPHOINOSITIDE 3-HYDROXYKINASE alpha peptide (PIK3CA) gene. OMIM: 612918
promote; also known as Blue Baby Syndrome not to be confused with "blue baby" due to congenital heart defects
Malformation of external portion of EAR AURICLE.