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An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Bartter Syndrome
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Bartter Syndrome
UMLS_CUI
  • C0004775
ALT_DEFINITION
  • Hypertrophy and hyperplasia of the juxtaglomerular cells, producing hypokalemic alkalosis and hyperaldosteronism, characterized by absence of hypertension in the presence of markedly increased plasma renin concentrations, and by insensitivity to the pressor effects of angiotensin. It usually affects children, is perhaps hereditary, and may be associated with other anomalies, such as mental retardation and short stature. It is also called juxtaglomerular cell aplasia. (Dorland, 27th ed)MSH2003_2003_05_12
  • transmitted as an autosomal recessive trait; characterized by hypertrophy and hyperplasia of the juxtaglomerular cells, and increased concentrations of renin, angiotensin II, and aldosterone in the absence of edema and hypertension.CSP2003
Legacy_Concept_Name
  • Bartter_s_Syndrome
FULL_SYN
  • Bartter SyndromePTNCI
  • Bartter's SyndromeSYNCI
  • Hypokalemic AlkalosisSYNCI
DEFINITION
  • A rare inherited syndrome characterized by juxtaglomerular cell hyperplasia, hyperaldosteronism, hypokalemia, and alkalosis. Patients have high levels of plasma renin concentration which is not associated with hypertension.NCI
code
  • C34412
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