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Congenital Heart Defects (CUI C0018798) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0018798

NCI Thesaurus Code: C34666  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

Semantic Type: Congenital Abnormality

NCIt Definition: An anatomical defect of a gross structure of the heart.

MEDLINEPLUS Definition: 

A congenital heart defect is a problem with the structure of the heart. It is present at birth. Congenital heart defects are the most common type of birth defect. The defects can involve the walls of the heart, the valves of the heart, and the arteries and veins near the heart. They can disrupt the normal flow of blood through the heart. The blood flow can slow down, go in the wrong direction or to the wrong place, or be blocked completely.

Doctors use a physical exam and special heart tests to diagnose congenital heart defects. They often find severe defects during pregnancy or soon after birth. Signs and symptoms of severe defects in newborns include

  • Rapid breathing
  • Cyanosis - a bluish tint to the skin, lips, and fingernails
  • Fatigue
  • Poor blood circulation

Many congenital heart defects cause few or no signs and symptoms. They are often not diagnosed until children are older.

Many children with congenital heart defects don't need treatment, but others do. Treatment can include medicines, catheter procedures, surgery, and heart transplants. The treatment depends on the type of the defect, how severe it is, and a child's age, size, and general health.

NIH: National Heart, Lung, and Blood Institute

HPO Definition: Any structural anomaly of the heart. [HPO:probinson]

HPO Definition: Congenital malformation of the heart or great vessels (i.e., the large blood vesslesentering and leaving the heart: aorta, the pulmonary arteries and veins, and the superior and inferior vena cava). [HPO:probinson]

MSH Definition: Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.

Synonyms & Abbreviations: (see Synonym Details)
ABNORM HEART
Abnormal heart morphology
Abnormalities, Heart
Abnormality of cardiac morphology
Abnormality of the heart
Abnormality, Heart
ANOMALY CARDIAC
ANOMALY HEART
Cardiac abnormalities
CARDIAC ABNORMALITY
Cardiac anomalies
CARDIAC ANOMALY
Cardiovascular malformations
Cong heart anomaly NOS
CONGEN HEART DEFECTS
CONGEN HEART DEFECT
Congenital anomaly of heart NOS
Congenital anomaly of heart
Congenital cardiac anomalies
CONGENITAL CARDIAC ANOMALY
congenital heart anomaly
Congenital heart defects
Congenital heart defect
Congenital malformation of heart, unspecified
Defect, Congenital Heart
DEFECTS CONGEN HEART
Defects, Congenital Heart
Heart Abnormalities
Heart Abnormality
HEART ABNORM
HEART DEFECT CONGEN
Heart Defect, Congenital
HEART DEFECTS CONGEN
Heart Defects, Congenital [Disease/Finding]
Heart Defects, Congenital
Heart Defects
heart defect
Heart malformations
HEART MALFORMATION
Heart, Malformation Of
MALFORMATION HEART (NOS)
obsolete Malformation of the heart and great vessels
Unspecified congenital anomaly of heart

External Source Codes: 
NCI Thesaurus Code C34666 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
AN general only; do not use as coordinate for specific term /abnorm; cyanotic defects probably go here but do not also index under CYANOSIS unless especially discussed 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 900000000000448009 SNOMEDCT_US
DATE_CREATED 06/21/1999 MEDLINEPLUS
DC 1 MSH
DID 0724-8315 CSP
DX 19660101 MSH
HPO_COMMENT This category is meant to comprise congenital (developmental) structural heart defects. HPO
IAN DEFAULT ICD10
ICE Congenital: {anomaly of heart NOS; heart disease NOS} ICD9CM
INCLUSION_TERM Congenital: anomaly NOS of heart ICD10
INCLUSION_TERM Congenital: disease NOS of heart ICD10
MDA 19990101 MSH
MESH_DEFINITION Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life. NDFRT
MESH_DUI D006330 NDFRT
MESH_NAME Heart Defects, Congenital NDFRT
MESH_UI M0009950 NDFRT
MIMTYPE 0 OMIM
MIMTYPEMEANING Other, mainly phenotypes with suspected mendelian basis OMIM
MIMTYPEVALUE none OMIM
MMR 20120703 MSH
MN C14.240.400 MSH
MN C14.280.400 MSH
MN C16.131.240.400 MSH
MP_HEALTH_TOPIC_URL https://www.nlm.nih.gov/medlineplus/congenitalheartdefects.html MEDLINEPLUS
MP_OTHER_LANGUAGE_URL Spanish https://www.nlm.nih.gov/medlineplus/spanish/congenitalheartdefects.html MEDLINEPLUS
MP_PRIMARY_INSTITUTE_URL National Heart, Lung, and Blood Institute http://www.nhlbi.nih.gov/ MEDLINEPLUS
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000001431 NDFRT
ORDER_NO 27428 ICD10CM
RXAUI 3104437 RXNORM
RXAUI 3135327 RXNORM
RXAUI 3135328 RXNORM
RXAUI 3144700 RXNORM
RXAUI 3171192 RXNORM
RXAUI 3171203 RXNORM
RXAUI 3171204 RXNORM
RXAUI 3171205 RXNORM
RXAUI 5039436 RXNORM
RXCUI 1022077 RXNORM
SID HP:0001632 HPO
SID HP:0002565 HPO
SID HP:3000001 HPO
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A 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 204413006 NDFRT
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T019176 MSH
TERMUI T019177 MSH
TERMUI T019178 MSH
TERMUI T019179 MSH
TERMUI T019180 MSH
TERMUI T019181 MSH
TERMUI T019182 MSH
TERMUI T811604 MSH
TH NLM (1966) MSH
TH OMIM (2013) MSH
TH UNK (19XX) MSH
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

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