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DeCS
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Descriptor English:
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Adrenal Hyperplasia, Congenital
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Descriptor Spanish:
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hiperplasia suprarrenal congénita
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Descriptor Portuguese:
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Hiperplasia Suprarrenal Congênita
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Synonyms English:
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Adrenal Hyperplasias, Congenital
Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasias
Hyperplasia, Congenital Adrenal
Hyperplasias, Congenital Adrenal
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Tree Number:
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C12.706.316.090.500
C13.351.875.253.090.500
C16.131.939.316.129.500
C16.320.033
C16.320.565.925.249
C18.452.648.925.249
C19.053.440
C19.391.119.090.500
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Definition English:
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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. |
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See Related English:
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3-Oxo-5-alpha-Steroid 4-Dehydrogenase
Puberty, Precocious
Steroid 11-beta-Hydroxylase
Steroid 17-alpha-Hydroxylase
Steroid 21-Hydroxylase
Virilism
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History Note English:
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80; was ADRENOGENITAL SYNDROME 1963-79
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Allowable Qualifiers English:
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Record Number:
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315
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Unique Identifier:
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D000312
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Occurrence in VHL:
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Similar:
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DeCS
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