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 C0020725 | |||||||
Russian | MDRRUS | 10072928 | L15714760 | preferred | S19047844 | N | Муколипидоз II типа |
Russian | MDRRUS | 10072928 | L15714760 | preferred | S19047844 | Y | Муколипидоз II типа |
(CPTSP) CRISP Thesaurus | A0422511 | AT51225509 | rapidly progressing disease of young children, characterized histologically by abnormal fibroblasts containing a large number of dark inclusions which fill the central part of the cytoplasm except for the juxtanuclear zone (I cells), and clinically by severe growth impairment, minimal hepatomegaly, extreme mental and motor retardation, and clear corneas; inherited as an autosomal recessive trait, it is caused by failure of lysosomal enzymes to be incorporated into lysosomes. | ||||
NCI Thesaurus | A12790164 | AT198032997 | An inherited lysosomal storage disease characterized by the presence of dense intracytoplasmic inclusions in mesenchymal cells, especially fibroblasts. Signs and symptoms include developmental delay, psychomotor deterioration, and growth failure. |