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 C0001627 | |||||||
Russian | Medical Subject Headings Russian | D000312 | L3359148 | preferred | S3886629 | Y | НАДПОЧЕЧНИКОВ ГИПЕРПЛАЗИЯ ВРОЖДЕННАЯ |
Russian | Medical Subject Headings Russian | D000312 | L0899908 | no | S1103725 | Y | NADPOCHECHNIKOV GIPERPLAZIIA VROZHDENNAIA |
Russian | MDRRUS | 10010323 | L15711828 | no | S19024501 | Y | Врожденная гиперплазия надпочечников |
Medical Subject Headings | A0020279 | AT127397132 | A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders. | ||||
(CPTSP) CRISP Thesaurus | A0595206 | AT51223870 | group of syndromes caused by inherited defects in cortisol and/or aldosterone biosynthesis; ACTH elevation is caused by low levels of cortisol, whose production is impaired by absence or deficiency of one of the five enzymes necessary for its synthesis from cholesterol. | ||||
Medical Subject Headings Czech | A24276996 | AT231382530 | Skupina dědičných poruch syntézy kortizolu (hydrokortisonu) a/nebo aldosteronu, kdy dochází k akumulaci prekurzorů pro androgeny. K projevům onemocnění patří ztráta vody a iontů, hypertenze, virilizace nebo feminizace. Vyskytují se defekty 21-hydroxylázy, 11-beta-hydroxylázy, 17-alfa-hydroxylázy, 3-beta-hydroxysteroiddehydrogenázy, testosteron 5-alfa-reduktázy a steroidogenního akutního regulačního proteinu. | ||||
HPO | A24678495 | AT206284069 | A type of adrenal hyperplasia with congenital onset. [HPO:probinson] | ||||
NCI Thesaurus | A7569741 | AT198066648 | A genetic disorder characterized by defects in the synthesis of cortisol and/or aldosterone, resulting in hyperplasia of the adrenal cortical cells. | ||||
NCI National Institute of Child Health and Human Development | A7569741 | AT224185240 | A group of heritable conditions associated with loss-of-function mutations in the genes encoding proteins involved in corticosteroid production, resulting in enlargement of the adrenal gland. |