loading...| Preferred Name |
congenital adrenal hyperplasia |
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| Synonyms |
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| Definitions |
A group of inherited conditions 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 conditions. |
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| ID |
http://purl.bioontology.org/ontology/MESH/D000312 |
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| alternate name |
congenital adrenal hyperplasias |
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| definition |
A group of inherited conditions 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 conditions. |
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| Disease Ontology ID | ||
| has database cross reference |
https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia https://www.wikidata.org/wiki/Q366868 https://lgbta.fandom.com/wiki/Congenital_Adrenal_Hyperplasia |
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| has synonym |
congenital adrenal gland hyperplasia |
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| ICD-10-CM |
E25.0 |
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| ICD-9-CM |
255.2 |
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| identifier | ||
| is referenced by | ||
| label |
congenital adrenal hyperplasia |
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| Medical Dictionary for Regulatory Activities ID | ||
| MeSH Descriptor ID | ||
| NCI Thesaurus ID | ||
| prefLabel |
congenital adrenal hyperplasia |
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| short name |
CAH |
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| SNOMED CT Identifier | ||
| subClassOf |
http://purl.obolibrary.org/obo/GSSO_001544 |