C0020725 - 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. 1/10
home    UMLS 2020

293,031 терминов и синонимов из MeSH и LOINC

Поиск по CUI
Поиск по CODE


Поиск по одному или нескольким словам или частям слов
   


Lang   Dictionary       CODE         LUI      
preferred
no
       SUI   preference
Yes / No
Terms, descriptions
CUI    C0020725
RussianMDRRUS 10072928 L15714760preferred S19047844 N Муколипидоз II типа
RussianMDRRUS 10072928 L15714760preferred 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.