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National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
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| Id | http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34360
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34360
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|---|---|
| Preferred Name | Congenital Adrenal Hyperplasia |
| Definitions |
A genetic disorder characterized by defects in the synthesis of cortisol and/or aldosterone, resulting in hyperplasia of the adrenal cortical cells.
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| Synonyms |
Congenital Adrenal Gland Hyperplasia
Adrenogenital Syndrome
Adrenogenital Disorder
Adrenal Hyperplasia, Congenital
Congenital Adrenal Hyperplasia
Adrenal Hyperplasia
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| label |
Congenital Adrenal Hyperplasia
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|---|---|
| Legacy Concept Name |
Congenital_Adrenal_Hyperplasia
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| Preferred_Name |
Congenital Adrenal Hyperplasia
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| Semantic_Type |
Disease or Syndrome
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| prefixIRI |
Thesaurus:C34360
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| DEFINITION |
A genetic disorder characterized by defects in the synthesis of cortisol and/or aldosterone, resulting in hyperplasia of the adrenal cortical cells.
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| UMLS_CUI |
C0001627
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| code |
C34360
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| subClassOf | |
| type | |
| FULL_SYN |
Congenital Adrenal Gland Hyperplasia
Adrenogenital Syndrome
Adrenogenital Disorder
Adrenal Hyperplasia, Congenital
Congenital Adrenal Hyperplasia
Adrenal Hyperplasia
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| ALT_DEFINITION |
A group of heritable conditions associated with loss-of-function mutations in the genes encoding proteins involved in corticosteroid production, resulting in enlargement of the adrenal gland.
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| Contributing_Source |
NICHD
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| Concept_In_Subset |
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