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 C0733682 | |||||||
NCI Thesaurus | A17695050 | AT198011577 | An X-linked dominant disorder caused by mutations in the PHEX gene. It is characterized by growth retardation, osteomalacia, hypophosphatemia, and defects in the renal reabsorption of phosphorus. | ||||
NCI National Institute of Child Health and Human Development | A17695050 | AT224185563 | Hypophosphatemic rickets due to renal phosphate wasting as a result of mutation(s) in the X-chromosomal PHEX gene, encoding phosphate-regulating neutral endopeptidase. This condition is characterized by normal serum calcium, increased serum alkaline phosphatase, low or inappropriately normal concentrations of 1,25-dihydroxyvitamin D (calcitriol), variable short stature, frontal bossing, dental abscesses, tibial bowing, and inflammation of the insertion sites of ligaments and tendons. | ||||
Medical Subject Headings | A22795750 | AT64676774 | An X-linked disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phosphate reabsorption and vitamin D metabolism; and growth retardation. This disorder is caused by mutations in PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE. | ||||
Medical Subject Headings Czech | A27577331 | AT221498274 | Porucha vázaná na chromozom X projevující se hypofosfatémií, rachitidou, osteomalacií, poruchami reabsorbce fosfátu v ledvinách, poruchami metabolismu vitaminu D a poruchami růstu. Tato porucha je způsobena mutací v neutrální endopeptidáze regulující fosfáty. |