293,031 терминов и синонимов из MeSH и LOINC
Lang Dictionary CODE | LUI | preferred no |
SUI | preference Yes / No |
Terms, descriptions |
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CUI C0002514 | |||||||
Russian | Medical Subject Headings Russian | D000592 | L3338055 | preferred | S3865538 | Y | АМИНОКИСЛОТ МЕТАБОЛИЗМ, ВРОЖДЕННЫЕ НАРУШЕНИЯ |
Russian | Medical Subject Headings Russian | D000592 | L0889867 | no | S1093684 | Y | AMINOKISLOT METABOLIZM, VROZHDENNYE NARUSHENIIA |
Russian | MDRRUS | 10013294 | L15714957 | no | S19049383 | Y | Нарушения транспорта и метаболизма аминокислот |
Russian | MDRRUS | 10021602 | L15722842 | no | S19024865 | Y | Врожденные нарушения обмена аминокислот |
Russian | MDRRUS | 10001938 | L15725880 | no | S19048554 | N | Нарушение обмена аминокислот |
Russian | MDRRUS | 10001938 | L15725880 | no | S19048554 | Y | Нарушение обмена аминокислот |
Russian | MDRRUS | 10045768 | L15770221 | no | S19049139 | Y | Нарушения обмена аминокислот неуточненные |
Russian | MDRRUS | 10045769 | L15781493 | no | S19052008 | Y | Неуточненное нарушение транспорта и метаболизма аминокислот |
Russian | MDRRUS | 10084108 | L16587714 | no | S20114537 | N | Врожденное нарушение обмена аминокислот |
Russian | MDRRUS | 10084108 | L16587714 | no | S20114537 | Y | Врожденное нарушение обмена аминокислот |
Medical Subject Headings | A0022701 | AT38140663 | Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life. | ||||
(CPTSP) CRISP Thesaurus | A0248543 | AT51222274 | disorders affecting amino acid metabolism; majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (for example, acidosis) and neurologic manifestations; present at birth, although they may not become symptomatic until later in life. | ||||
NCI Thesaurus | A20258034 | AT198123941 | An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria. | ||||
MEDLINEPLUS | A27392725 | AT220106395 | Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Your digestive system breaks the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body. If you have a metabolic disorder, something goes wrong with this process. One group of these disorders is amino acid metabolism disorders. They include phenylketonuria (PKU) and maple syrup urine disease. Amino acids are "building blocks" that join together to form proteins. If you have one of these disorders, your body may have trouble breaking down certain amino acids. Or there may be a problem getting the amino acids into your cells. These problems cause a buildup of harmful substances in your body. That can lead to serious, sometimes life-threatening, health problems. These disorders are usually inherited. A baby who is born with one may not have any symptoms right away. Because the disorders can be so serious, early diagnosis and treatment are critical. Newborn babies get screened for many of them, using blood tests. Treatments may include special diets, medicines, and supplements. Some babies may also need additional treatments if there are complications. | ||||
Medical Subject Headings Czech | A27558353 | AT231369985 | Poruchy metabolismu aminokyselin. Většinou jsou dědičné a projevují se v neonatálním období jako metabolické poruchy (např. acidóza) a neurologické manifestace. Tyto nemoci jsou přítomné již při narození, ačkoli se klinické příznaky mohou projevit až v pozdějším věku. |