skip navigation links
National Cancer Institute
Enterprise Vocabulary Services
Box
NCIm Version: 201706 (Browser Version 2.9, using LexEVS 6.5.1)
SearchBox Top
SearchBox Bottom
Tetralogy of Fallot (CUI C0039685) Suggest changes to this concept
Add to Cart

Terms & Properties

Concept Unique Identifier (CUI): C0039685

NCI Thesaurus Code: C84505  (see NCI Thesaurus info)

Semantic Type: Congenital Abnormality

NCIt Definition: A congenital heart disorder characterized by the presence of the following four abnormalities: ventricular septal defect, pulmonary stenosis, overriding aorta, and right ventricular hypertrophy.

GARD Definition: Tetralogy of Fallot is a complex congenital heart defect characterized by a large ventricular septal defect (hole between the right and left ventricles), pulmonary stenosis (narrowing of the valve and artery that connect the heart with the lungs), an overriding aorta (the aorta - the artery that carries oxygen-rich blood to the body - is shifted over the right ventricle and ventricular septal defect, instead of coming out only from the left ventricle), and right ventricular hypertrophy (the muscle of the right ventricle is thicker than usual). Tetralogy of Fallot causes low oxygen levels in the blood, which can lead to cyanosis (a bluish-purple color to the skin). The cause of this condition is unknown. Treatment involves surgery to repair the heart defects. Sometimes more than one surgery is needed.   - this information is from GARD/ORDR/NCATS.

HPO Definition: A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present. [HPO:probinson]

CDISC Definition: Defect of the heart which includes all of the following: pulmonary stenosis, interventricular septal defect, dextraposed aorta overriding the ventricular septum, and enlarged right ventricular wall. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.)

CSP Definition: combination of congenital cardiac defects consisting of pulmonary stenosis, interventricular septal defect, dextroposition of the aorta so that it overrides the interventricular septum and receives venous as well as arterial blood, and right ventricular hypertrophy.

MSH Definition: A combination of congenital heart defects consisting of four key features including VENTRICULAR SEPTAL DEFECTS; PULMONARY STENOSIS; RIGHT VENTRICULAR HYPERTROPHY; and a dextro-positioned AORTA. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing CYANOSIS.

Synonyms & Abbreviations: (see Synonym Details)
FALLOT TETRALOGY OF
Fallot tetralogy
Fallot's tetralogy
Fallots Tetralogy
Subpulmonic stenosis, ventricular septal defect, overriding aorta, AND right ventricular hypertrophy
Tetralogy of Fallot (disorder)
Tetralogy of Fallot [Disease/Finding]
TETRALOGY OF FALLOT
Tetralogy, Fallot's
Tetralogy, Fallots
Tetralogy, Fallot
Tetrology of fallot
TOF - Tetralogy of Fallot
TOF
Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle

External Source Codes: 
NCI Thesaurus Code C84505 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN do not confuse with TRILOGY OF FALLOT MSH
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
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source CDISC NCI
Contributing_Source NICHD NCI
CTV3ID P52.. SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 0724-9541 CSP
DISEASE_IDENTIFIER_ID 9594 GARD
DISEASE_IDENTIFIER_ID 9595 GARD
DX 19660101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FX D058502 MSH
GENELOCUS ,8,q,2,3, OMIM
GENESYMBOL DIH3 OMIM
GENESYMBOL FOG2 OMIM
GENESYMBOL SRXY9 OMIM
GENESYMBOL ZFPM2 OMIM
HAS_GARD_PAGE true GARD
IAN DEFAULT ICD10
ICE Fallot's pentalogy; Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle ICD9CM
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2009-01-07T00:00:00 GARD
MDA 19990101 MSH
MESH_DEFINITION A combination of congenital heart defects consisting of four key features including VENTRICULAR SEPTAL DEFECTS; PULMONARY STENOSIS; RIGHT VENTRICULAR HYPERTROPHY; and a dextro-positioned AORTA. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing CYANOSIS. NDFRT
MESH_DUI D013771 NDFRT
MESH_NAME Tetralogy of Fallot NDFRT
MESH_UI M0021243 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20120703 MSH
MN C14.240.400.849 MSH
MN C14.280.400.849 MSH
MN C16.131.240.400.849 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Tetralogy of Fallot NCI
NUI N0000002917 NDFRT
ORDER_NO 27397 ICD10CM
PRIMARY_PATH 10016193$10028177$10007510$10010331$Fallot's tetralogy$Multiple cardiac abnormalities congenital$Cardiac and vascular 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 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/2245/tetralogy-of-fallot/resources/1 GARD
RXAUI 3159655 RXNORM
RXAUI 3247837 RXNORM
RXAUI 3247838 RXNORM
RXAUI 3247840 RXNORM
RXCUI 1023257 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 268177006 NDFRT
SNOMED_CID 86299006 NDFRT
SNOMEDID D4-31110 SNOMEDCT_US
SOS Excludes: Fallot's triad (746.09) ICD9CM
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q21.3 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~Q21.3 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q21.3 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF PENTALOGY OF FALLOT CHOOSE Q21.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF TETRALOGY OF FALLOT WITH ABSENT PULMONARY VALVE CHOOSE Q22.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF TETRALOGY OF FALLOT WITH PULMONARY ATRESIA CHOOSE Q22.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF TETRALOGY OF FALLOT WITH PULMONARY STENOSIS CHOOSE Q22.1 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447638001 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447639009 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~3 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~4 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 204306007 | Pentalogy of Fallot (disorder) | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 253512000 | Tetralogy of Fallot with pulmonary stenosis (disorder) | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 253513005 | Tetralogy of Fallot with pulmonary atresia (disorder) | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 399228007 | Tetralogy of Fallot with absent pulmonary valve (disorder) | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~OTHERWISE TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q21.3 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q21.8 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q22.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q22.1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~ SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~P52.. SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~D4-31110 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 T040455 MSH
TERMUI T040456 MSH
TERMUI T040457 MSH
TH NLM (1966) MSH
TH OMIM (2013) 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=C0039685

Mainbox Bottom