Ontology of Drug Adverse Events

Last uploaded: January 12, 2019
Preferred Name

Adrenal Hyperplasia, Congenital [Disease/Finding]

Synonyms
ID

http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000328

code

C834

Display_Name

Adrenal Hyperplasia, Congenital

imported from

http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl

label

Adrenal Hyperplasia, Congenital [Disease/Finding]

MeSH_CUI

M0000487

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.

MeSH_DUI

D000312

MeSH_Name

Adrenal Hyperplasia, Congenital

NUI

N0000000328

prefixIRI

NDF-RT:N0000000328

prefLabel

Adrenal Hyperplasia, Congenital [Disease/Finding]

RxNorm_CUI

1023878

SNOMED_CID

237751000

Synonym

Hyperplasia, Congenital Adrenal

Congenital Adrenal Hyperplasia

UMLS_CUI

C0001627

subClassOf

http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010958

http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000324

http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011088

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