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
Brugada Syndrome (disorder) (CUI C1142166) Suggest changes to this concept
Add to Cart

Terms & Properties

Concept Unique Identifier (CUI): C1142166

NCI Thesaurus Code: C71059  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: An electrocardiographic finding of a pattern of right bundle branch block and ST-segment elevation within electrocardiogram leads V1-V3. This pattern emerges as a result of a defect in ion channel genes, resulting in atypical electrophysiological activity in the right ventricle and a propensity for malignant tachyarrhythmias.

GARD Definition: Brugada syndrome is a condition that causes a disruption of the heart's normal rhythm (arrhythmia). Signs and symptoms usually develop in adulthood and include ventricular arrhythmia that can cause fainting, seizures, difficulty breathing, or sudden death. These complications often occur when an affected person is resting or asleep. Brugada syndrome is inherited in an autosomal dominant manner and may be caused by a mutation in any of several genes (most commonly the SCN5A gene). In many cases, the genetic cause is not identified. There have also been reports of acquired Brugada syndrome which have been associated with adverse reactions to certain drugs or other substances. Treatment may include use of an implantable cardioverter defibrillator (ICD) in people with a history of fainting or heart attack. - this information is from GARD/ORDR/NCATS.

CDISC Definition: Polymorphic ventricular tachycardia in the absence of structural heart disease, associated with a baseline ECG pattern during sinus rhythm showing right bundle branch block with ST segment elevation in leads V1 through V3. It can also be characterized by documentation of ECG patterns associated with Brugada Syndrome, some of which may be unmasked when provoked with drugs. The most common genetic mutations identified for Brugada syndrome are in the sodium channel gene SCN5A.

SNOMEDCT_US Definition: Clinical manifestations of cardiac syncope, ventricular tachycardia, ventricular fibrillation, or sudden death in conjunction with a genetic mutation associated with Brugada Syndrome and/or a Brugada pattern ECG (spontaneous or provoked).

MSH Definition: An autosomal dominant defect of cardiac conduction that is characterized by an abnormal ST-segment in leads V1-V3 on the ELECTROCARDIOGRAM resembling a right BUNDLE-BRANCH BLOCK; high risk of VENTRICULAR TACHYCARDIA; or VENTRICULAR FIBRILLATION; SYNCOPAL EPISODE; and possible sudden death. This syndrome is linked to mutations of gene encoding the cardiac SODIUM CHANNEL alpha subunit.

Synonyms & Abbreviations: (see Synonym Details)
Bangungut
BRGDA1
Brugada Syndrome (disorder)
Brugada Syndrome 1
Brugada Syndrome [Disease/Finding]
Brugada Syndrome Ventricular Arrhythmia by ECG Finding
Brugada Syndrome Ventricular Arrhythmia by EKG Finding
Brugada Syndrome Ventricular Arrhythmia
BRUGADA SYNDROME
Dream disease
Idiopathic ventricular fibrillation, Brugada type
Pokkuri death syndrome
Right bundle branch block, ST segment elevation, and sudden death syndrome
Sudden unexpected nocturnal death syndrome
Sudden unexplained nocturnal death syndrome
SUNDS
Ventricular arrhythmia associated with Brugada syndrome

External Source Codes: 
NCI Thesaurus Code C71059 (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
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source CDISC NCI
CTV3ID XUdB5 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
DISEASE_IDENTIFIER_ID 30521 GARD
DISEASE_IDENTIFIER_ID 30522 GARD
DISEASE_IDENTIFIER_ID 30523 GARD
DISEASE_IDENTIFIER_ID 30524 GARD
DISEASE_IDENTIFIER_ID 30525 GARD
DISEASE_IDENTIFIER_ID 30526 GARD
DISEASE_IDENTIFIER_ID 7755 GARD
DISEASE_IDENTIFIER_ID 7756 GARD
DX 20070101 MSH
EFFECTIVE_TIME 20060131 SNOMEDCT_US
FR 2 MSH
GENELOCUS ,3,p,2,1, OMIM
GENESYMBOL CDCD2 OMIM
GENESYMBOL CMD1E OMIM
GENESYMBOL HB1 OMIM
GENESYMBOL LQT3 OMIM
GENESYMBOL SCN5A OMIM
GENESYMBOL SSS1 OMIM
GENESYMBOL VF1 OMIM
HAS_GARD_PAGE true GARD
HM D053840 MSH
HN 2007 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 2008-10-18T00:00:00 GARD
MDA 20060705 MSH
MDA 20100825 MSH
MESH_DEFINITION An autosomal dominant defect of cardiac conduction that is characterized by an abnormal ST-segment in leads V1-V3 on the ELECTROCARDIOGRAM resembling a right BUNDLE-BRANCH BLOCK; high risk of VENTRICULAR TACHYCARDIA; or VENTRICULAR FIBRILLATION; SYNCOPAL EPISODE; and possible sudden death. This syndrome is linked to mutations of gene encoding the cardiac SODIUM CHANNEL alpha subunit. NDFRT
MESH_DUI D053840 NDFRT
MESH_NAME Brugada Syndrome NDFRT
MESH_UI M0496826 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MMR 20131024 MSH
MN C14.280.067.322 MSH
MN C16.320.100 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000181195 NDFRT
PM 2007 MSH
PRIMARY_PATH 10059027$10000032$10007521$10007541$Brugada syndrome$Cardiac conduction disorders$Cardiac arrhythmias$Cardiac disorders MDR
PRIMARY_SOC 10007541 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/1030/brugada-syndrome/resources/1 GARD
RN 0 MSH
RXAUI 3286821 RXNORM
RXAUI 3286822 RXNORM
RXAUI 5038858 RXNORM
RXAUI 5039910 RXNORM
RXAUI 5039980 RXNORM
RXCUI 1028880 RXNORM
SC 3 MSH
SMQ_TERM_ADDVERSION 9.1 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LMVERSION 12.1 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SOS Right bundle branch block, ST segment elevation, and sudden death syndrome MSH
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS I49.8 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~I49.8 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS I49.8 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE 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~I49.8 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUdB5 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
TERMUI T670954 MSH
TERMUI T727086 MSH
TERMUI T812523 MSH
TERMUI T812525 MSH
TERMUI T812526 MSH
TH GHR (2014) MSH
TH NLM (2007) MSH
TH OMIM (2013) MSH
TH ORD (2010) 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=C1142166

Mainbox Bottom