About: Congenital Adrenal Gland Hyperplasia     Goto   Sponge   Distinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Congenital Adrenal Gland Hyperplasia
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Congenital Adrenal Gland Hyperplasia
UMLS_CUI
  • C0001627
Contributing_Source
  • NICHD
ALT_DEFINITION
  • A group of syndromes caused by inherited defects in cortisol (HYDROCORTISONE) and/or ALDOSTERONE biosynthesis. There are several types including simple virilizing forms (adrenogenital syndrome), salt-wasting forms, and virilizing hypertension forms depending on the enzyme of defects. Defects in STEROID 21-HYDROXYLASE are most common. Other defects occur in STEROID 11-BETA-HYDROXYLASE, STEROID 17-ALPHA-HYDROXYLASE, or 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES).MSH2003_2003_05_12
  • a group of syndromes caused by inherited defects in cortisol and/or aldosterone biosynthesis; ACTH elevation is caused by low levels of cortisol, whose production is impaired by absence or deficiency of one of the five enzymes necessary for its synthesis from cholesterol.CSP2003
Legacy_Concept_Name
  • Congenital_Adrenal_Hyperplasia
FULL_SYN
  • Congenital Adrenal HyperplasiaPTNICHD
  • Adrenogenital SyndromeSYNCI
  • Adrenogenital DisorderSYNICHD
  • Congenital Adrenal Gland HyperplasiaPTNCI
  • Adrenal HyperplasiaSYNCI
  • Congenital Adrenal HyperplasiaSYNCI
  • Adrenal Hyperplasia, CongenitalSYNCI
DEFINITION
  • A genetic disorder characterized by defects in the synthesis of cortisol and/or aldosterone, resulting in hyperplasia of the adrenal cortical cells.NCI
code
  • C34360
is someValuesFrom of
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