skip navigation links
National Cancer Institute
Enterprise Vocabulary Services
Box
NCIm Version: 201808 (Browser Version 2.9, using LexEVS 6.5.1)
SearchBox Top
SearchBox Bottom
Bartter Disease (CUI C0004775) Suggest changes to this concept
Add to Cart

Terms & Properties

Concept Unique Identifier (CUI): C0004775

NCI Thesaurus Code: C34412  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt 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.

GARD Definition: Bartter syndrome is a group of similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and other molecules in the body. In some cases, the condition manifests before birth with increased amniotic fluid surrounding the affected fetus (polyhydramnios). Affected infants typically do not grow and gain wait as expected. Dehydration, constipation and increased urine production result from losing too much salt (sodium chloride) in the urine, and weakening of the bones can occur due to excess loss of calcium. Low levels of potassium in the blood (hypokalemia) can cause muscle weakness, cramping, and fatigue. It is caused by mutations in any one of at least 5 genes and is inherited in an autosomal recessive manner. The different types of Bartter syndrome are classified according to the specific gene that causes the condition. Treatment depends on the type of the syndrome present but chiefly focuses on preventing the loss of too much potassium from the body. - this information is from GARD/ORDR/NCATS.

NICHD Definition: A rare, inherited syndrome characterized by juxtaglomerular cell hyperplasia, hyperaldosteronism, hypokalemia, and alkalosis. Affected individuals have high concentration of plasma renin that is not associated with hypertension.

CSP Definition: 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.

MSH Definition: A group of disorders caused by defective salt reabsorption in the ascending LOOP OF HENLE. It is characterized by severe salt-wasting, HYPOKALEMIA; HYPERCALCIURIA; metabolic ALKALOSIS, and hyper-reninemic HYPERALDOSTERONISM without HYPERTENSION. There are several subtypes including ones due to mutations in the renal specific SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.

Synonyms & Abbreviations: (see Synonym Details)
Aldosteronism with Hyperplasia of the Adrenal Cortex
Bartter Disease
BARTTER DIS
Bartter syndrome (disorder)
Bartter Syndrome [Disease/Finding]
BARTTER SYNDROME
Bartter's Disease
Bartter's syndrome
Bartters Disease
BARTTERS DIS
Bartters Syndrome
Hypokalemic alkalosis with hypercalciuria
Hypokalemic Alkalosis
JUXTAGLOMERULAR HYPERPLASIA WITH SECONDARY ALDOSTERONISM
Potassium wasting
Renal tubular normotensive hypokalemic alkalosis with hypercalciuria
Salt-losing tubular disorder, Henles loop type
Salt-wasting tubulopathy, Henles loop type
Syndrome, Bartter's
Syndrome, Bartter

External Source Codes: 
NCI Thesaurus Code C34412 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID XUo0q SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1849-1690 CSP
DISEASE_IDENTIFIER_ID 17456 GARD
DISEASE_IDENTIFIER_ID 17457 GARD
DISEASE_IDENTIFIER_ID 17458 GARD
DISEASE_IDENTIFIER_ID 30372 GARD
DISEASE_IDENTIFIER_ID 30373 GARD
DISEASE_IDENTIFIER_ID 30374 GARD
DX 19910101 MSH
EFFECTIVE_TIME 20150131 SNOMEDCT_US
FX D028021 MSH
HAS_GARD_PAGE true GARD
HN 2005 (1975) MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2009-05-14T00:00:00 GARD
MDA 19990101 MSH
MESH_DEFINITION A group of disorders caused by defective salt reabsorption in the ascending LOOP OF HENLE. It is characterized by severe salt-wasting, HYPOKALEMIA; HYPERCALCIURIA; metabolic ALKALOSIS, and hyper-reninemic HYPERALDOSTERONISM without HYPERTENSION. There are several subtypes including ones due to mutations in the renal specific SODIUM-POTASSIUM-CHLORIDE SYMPORTERS. NDFRT
MESH_DUI D001477 NDFRT
MESH_NAME Bartter Syndrome NDFRT
MESH_UI M0002194 NDFRT
MMR 20130708 MSH
MN C12.777.419.815.279 MSH
MN C13.351.968.419.815.279 MSH
MN C19.053.800.604.249 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Bartter Syndrome NCI
NUI N0000000534 NDFRT
ORDER_NO 04332 ICD10CM
PM 2005; see BARTTER'S DISEASE 1991-2004, see HYPERALDOSTERONISM 1975-1990 MSH
PRIMARY_PATH 10050839$10038361$10038360$10010331$Bartter's syndrome$Renal and urinary tract disorders congenital NEC$Renal and urinary tract disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 20.0 MDR
PT_IN_VERSION 20.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/5893/bartter-syndrome/resources/1 GARD
RXAUI 3116646 RXNORM
RXAUI 3116647 RXNORM
RXAUI 3116648 RXNORM
RXAUI 3116649 RXNORM
RXAUI 3286779 RXNORM
RXAUI 5930158 RXNORM
RXAUI 5931286 RXNORM
RXCUI 1025612 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 71275003 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E26.8 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~E26.8 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E26.81 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E26.81 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUo0q SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T004289 MSH
TERMUI T004290 MSH
TERMUI T570360 MSH
TERMUI T752524 MSH
TERMUI T840986 MSH
TERMUI T840987 MSH
TH GHR (2014) MSH
TH NLM (1975) MSH
TH NLM (2005) MSH
TH NLM (2010) MSH
TH NLM (2014) MSH
TH ORD (2010) MSH
TH UNK (19XX) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0004775

Mainbox Bottom