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 C0037231 | |||||||
| Russian | Medical Subject Headings Russian | D016111 | L3376907 | preferred | S3904399 | Y | ШЕГРЕНА-ЛАРССОНА СИНДРОМ |
| Russian | Medical Subject Headings Russian | D016111 | L0904412 | no | S1108229 | Y | SHEGRENA-LARSSONA SINDROM |
| Russian | MDRRUS | 10059143 | L15720478 | no | S19093521 | Y | Шегрена-Ларссона синдром |
| Russian | MDRRUS | 10048676 | L15740846 | no | S19079684 | N | Синдром Шегрена-Ларссона |
| Russian | MDRRUS | 10048676 | L15740846 | no | S19079684 | Y | Синдром Шегрена-Ларссона |
| Medical Subject Headings | A0116833 | AT64676285 | An autosomal recessive neurocutaneous disorder characterized by severe ichthyosis MENTAL RETARDATION; SPASTIC PARAPLEGIA; and congenital ICHTHYOSIS. It is caused by mutation of gene encoding microsomal fatty ALDEHYDE DEHYDROGENASE leading to defect in fatty alcohol metabolism. | ||||
| (JABL) Congenital Mental Retardation Syndromes | A1704282 | AT14332585 | A syndrome of ichthyosis, spastic paralysis, and mental deficiency and other disorders with variable degree of severity. | ||||
| NCI Thesaurus | A17700885 | AT224192486 | An autosomal recessive condition caused by mutation(s) in the ALDH3A2 gene, encoding fatty aldehyde dehydrogenase. It is a characterized by dry and scaly skin, neurological dysfunction and mild to moderate intellectual disability. | ||||
| Medical Subject Headings Czech | A28792203 | AT231366411 | Vrozená ichtyoziformní erytrodermie s autozomálně recesivní dědičností spojená s oligofrenií, degenerací sítnice a dalšími anomáliemi. Nemoc je způsobená mutací genu pro mikrozomální aldehyddehydrogenázu, což vede k poruše metabolismu mastných alkoholů. Onemocnění se vyskytuje endemicky ve Skandinávii. Jeho variantou s trpasličím vzrůstem je Rudův syndrom. (cit. Velký lékařský slovník online, 2017 http://lekarske.slovniky.cz) | ||||
