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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
| Id | http://purl.bioontology.org/ontology/NDFRT/N0000000328
http://purl.bioontology.org/ontology/NDFRT/N0000000328
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|---|---|
| Preferred Name | Adrenal Hyperplasia, Congenital [Disease/Finding] |
| Synonyms |
Hyperplasia, Congenital Adrenal
Congenital Adrenal Hyperplasia
Adrenal Hyperplasia, Congenital
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Hyperplasia, Congenital Adrenal
Congenital Adrenal Hyperplasia
Adrenal Hyperplasia, Congenital
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|---|---|
| prefLabel | Adrenal Hyperplasia, Congenital [Disease/Finding]
|
| 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 UI | M0000487
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| MeSH name | Adrenal Hyperplasia, Congenital
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| type | |
| tui | T047
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| SNOMED CID | 237751000
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| May be treated by |
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| notation | N0000000328
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| Semantic type UMLS property | |
| NUI | N0000000328
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| cui | C0001627
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| NDFRT kind | DISEASE_KIND
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| subClassOf |
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