Preferred Name | Adrenal Hyperplasia, Congenital [Disease/Finding] | |
Synonyms |
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ID |
http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000328 |
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code |
C834 |
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Display_Name |
Adrenal Hyperplasia, Congenital |
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imported from | ||
label |
Adrenal Hyperplasia, Congenital [Disease/Finding] |
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MeSH_CUI |
M0000487 |
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MeSH_Definition |
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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MeSH_DUI |
D000312 |
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MeSH_Name |
Adrenal Hyperplasia, Congenital |
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NUI |
N0000000328 |
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prefixIRI |
NDF-RT:N0000000328 |
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prefLabel |
Adrenal Hyperplasia, Congenital [Disease/Finding] |
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RxNorm_CUI |
1023878 |
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SNOMED_CID |
237751000 |
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Synonym |
Hyperplasia, Congenital Adrenal Congenital Adrenal Hyperplasia |
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UMLS_CUI |
C0001627 |
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subClassOf |
http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010958 |
Delete | Mapping To | Ontology | Source |
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http://purl.bioontology.org/ontology/NDFRT/N0000000328 | NDFRT | LOOM |