80891009: Heart structure (body structure)

SNOMED CT Concept\Body structure (body structure)\Anatomical or acquired body structure (body structure)\Anatomical structure\...

\Anatomical structure which has as its parts a heterogeneous collection of organs, organ parts, cells, cell parts or body part subdivisions that are adjacent to, or continuous with one another; does not constitute a cell part, cell, tissue, organ, or body part subdivision.\Structure of anatomical compartment (body structure)\Structure of body cavity and/or content\Structure of thoracic cavity and/or content\...

\Intrathoracic cardiovascular structure\Heart and/or pericardium structure\Heart structure

\Mediastinal structure\Region of mediastinum\Structure of inferior mediastinum (body structure)\Subdivision of inferior mediastinum\Middle mediastinum structure\Heart and/or pericardium structure\Heart structure

\Structure of thoracic viscus\Heart structure

\An anatomical structure that consists of the maximal set of organ parts so connected to one another that together they constitute a self-contained unit of macroscopic anatomy, distinct both morphologically and functionally from other such units. Together with other organs, an organ constitutes an organ system or a body part. An organ is divisible into organ parts but not organs (examples: femur, biceps, liver, heart, aorta, sciatic nerve, ovary).\Structure of viscus\Structure of thoracic viscus\Heart structure

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Heart structure	Is a	Cardiac structure	false	Inferred relationship	Some
Heart structure	Is a	Intrathoracic cardiovascular structure	false	Inferred relationship	Some
Heart structure	Is a	Structure of thoracic viscus	true	Inferred relationship	Some
Heart structure	partie de	Entire heart AND pericardium	false	Additional relationship	Some
Heart structure	Is a	Heart and/or pericardium structure	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Revision of internal cardiac defibrillator lead using fluoroscopic guidance (procedure)	Procedure site - Direct (attribute)	False	Heart structure	Inferred relationship	Some	4
Revision of internal cardiac defibrillator lead using fluoroscopic guidance (procedure)	Procedure site - Indirect (attribute)	True	Heart structure	Inferred relationship	Some	5
Revision of biventricular permanent pacemaker lead using fluoroscopic guidance (procedure)	Procedure site - Direct (attribute)	False	Heart structure	Inferred relationship	Some	4
Revision of biventricular permanent pacemaker lead using fluoroscopic guidance (procedure)	Procedure site - Indirect (attribute)	True	Heart structure	Inferred relationship	Some	5
Revision of cardiac biventricular implantable cardioverter defibrillator lead using fluoroscopic guidance (procedure)	Procedure site - Direct (attribute)	True	Heart structure	Inferred relationship	Some	2
Revision of cardiac biventricular implantable cardioverter defibrillator lead using fluoroscopic guidance (procedure)	Procedure site - Indirect (attribute)	True	Heart structure	Inferred relationship	Some	3
Magnetic resonance imaging of heart with contrast (procedure)	Procedure site - Direct (attribute)	True	Heart structure	Inferred relationship	Some	1
Magnetic resonance imaging stress study of heart with contrast (procedure)	Procedure site - Direct (attribute)	True	Heart structure	Inferred relationship	Some	2
Magnetic resonance imaging of heart under stress	Procedure site - Direct (attribute)	True	Heart structure	Inferred relationship	Some	1
Single photon emission computed tomography of myocardial perfusion with computed tomography	Procedure site - Direct (attribute)	False	Heart structure	Inferred relationship	Some	2
Single photon emission computed tomography of myocardial perfusion with computed tomography	Procedure site - Direct (attribute)	False	Heart structure	Inferred relationship	Some	3
Two dimensional echocardiography of fetus (procedure)	Procedure site - Direct (attribute)	False	Heart structure	Inferred relationship	Some	2
Two dimensional echocardiography of fetus (procedure)	Procedure site - Direct (attribute)	False	Heart structure	Inferred relationship	Some	3
Computed tomography of heart without contrast with calcium scoring (procedure)	Procedure site - Direct (attribute)	True	Heart structure	Inferred relationship	Some	1
Computed tomography of heart with contrast for cardiac structure and morphology (procedure)	Procedure site - Direct (attribute)	True	Heart structure	Inferred relationship	Some	1
MRI for cardiac velocity flow mapping	Procedure site - Direct (attribute)	True	Heart structure	Inferred relationship	Some	1
Magnetic resonance imaging for cardiac morphology and function without contrast (procedure)	Procedure site - Direct (attribute)	True	Heart structure	Inferred relationship	Some	1
Common arterial trunk with aortic dominance (disorder)	Finding site	True	Heart structure	Inferred relationship	Some	2
Common arterial trunk with pulmonary dominance co-occurrent with interrupted aortic arch (disorder)	Finding site	False	Heart structure	Inferred relationship	Some	7
Supraventricular bradyarrhythmia	Finding site	False	Heart structure	Inferred relationship	Some
Injury of heart without hemopericardium (disorder)	Finding site	True	Heart structure	Inferred relationship	Some	1
Intraoperative insertion of cardiac pacemaker	Procedure site - Indirect (attribute)	True	Heart structure	Inferred relationship	Some	1
Syndrome with characteristics of a variety of cardiac problems related to arrhythmia. The disease may be associated with problems with the sinoatrial node, which may lead to bradycardia. In a small number of cases prolonged QT interval may occur. Some affected individuals have impaired conduction leading to heart block. Other manifestations include atrial fibrillation, ventricular fibrillation and catecholaminergic polymorphic ventricular tachycardia. Arrhythmia can lead to syncope, cardiac arrest and sudden death. Caused by mutations in the ANK2 gene leading to production of an altered ankyrin-B protein that cannot target ion channels to their correct locations in cardiac muscle cells. Inherited in an autosomal dominant pattern.	Finding site	True	Heart structure	Inferred relationship	Some	1
CT of heart with contrast	Procedure site - Direct (attribute)	True	Heart structure	Inferred relationship	Some	1
Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981.	Finding site	True	Heart structure	Inferred relationship	Some	3
Technique for the combined evaluation of myocardial perfusion and left ventricular function within a single procedure.	Procedure site - Direct (attribute)	True	Heart structure	Inferred relationship	Some	2
Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.	Finding site	False	Heart structure	Inferred relationship	Some	2
Oro-facial digital syndrome type 12	Finding site	False	Heart structure	Inferred relationship	Some	2
Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.	Finding site	True	Heart structure	Inferred relationship	Some	1
Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981.	Finding site	False	Heart structure	Inferred relationship	Some	2
Oro-facial digital syndrome type 13	Finding site	True	Heart structure	Inferred relationship	Some	4
Arteriosclerosis of autologous vein coronary artery bypass graft with angina	Finding site	True	Heart structure	Inferred relationship	Some	1
Oro-facial digital syndrome type 12	Finding site	True	Heart structure	Inferred relationship	Some	1
Unstable angina co-occurrent and due to arteriosclerosis of coronary artery bypass graft (disorder)	Finding site	True	Heart structure	Inferred relationship	Some	1
Implantation of intracardiac electrode	Procedure site - Indirect (attribute)	True	Heart structure	Inferred relationship	Some	1
Dysmorphism-conductive hearing loss-heart defect syndrome is a rare, multiple congenital anomalies syndrome characterized by a distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, flat nares, Cupid bow upper lip vermilion, and small, low-set, posteriorly rotated ears), in addition to cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability.	Finding site	True	Heart structure	Inferred relationship	Some	4
Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).	Finding site	True	Heart structure	Inferred relationship	Some	1
Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).	Finding site	False	Heart structure	Inferred relationship	Some	3
Fluoroscopy guided removal of automatic cardiac defibrillator	Procedure site - Indirect (attribute)	True	Heart structure	Inferred relationship	Some	1
Uniatrial biventricular connection with absent left sided atrioventricular connection with straddling valve (disorder)	Finding site	False	Heart structure	Inferred relationship	Some	1
Anomalous origin of single coronary artery from nonfacing aortic sinus (disorder)	Finding site	False	Heart structure	Inferred relationship	Some	2
Anomalous origin of single coronary artery from aortic sinus to left of nonfacing aortic sinus	Finding site	False	Heart structure	Inferred relationship	Some	2
Anomalous origin of single coronary artery from aortic sinus to right of nonfacing aortic sinus	Finding site	False	Heart structure	Inferred relationship	Some	2
Anomalous origin of left coronary artery and right coronary artery with dual orifices from aortic sinus to right of nonfacing aortic sinus (disorder)	Finding site	False	Heart structure	Inferred relationship	Some	3
Anomalous origin of coronary artery from aortic sinus to right of nonfacing aortic sinus	Finding site	False	Heart structure	Inferred relationship	Some	2
L - transposition of the great vessels (disorder)	Finding site	False	Heart structure	Inferred relationship	Some	1
Absent atrioventricular connection with straddling valve	Finding site	False	Heart structure	Inferred relationship	Some	1
Anomalous origin of right coronary artery and circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending artery from aortic sinus to left on nonfacing aortic sinus (disorder)	Finding site	False	Heart structure	Inferred relationship	Some	4
Anomalous origin of coronary artery from aortic sinus to left of nonfacing aortic sinus	Finding site	False	Heart structure	Inferred relationship	Some	2
Anomalous origin of left coronary artery and right coronary artery with dual orifices from aortic sinus to left of nonfacing aortic sinus	Finding site	False	Heart structure	Inferred relationship	Some	3
Anomalous origin of circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending coronary artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus	Finding site	False	Heart structure	Inferred relationship	Some	3
D - transposition of the great vessels (disorder)	Finding site	False	Heart structure	Inferred relationship	Some	1
Anomalous origin of right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left coronary artery from aortic sinus to left of nonfacing aortic sinus	Finding site	False	Heart structure	Inferred relationship	Some	3
Anomalous origin of left anterior descending artery and right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery from aortic sinus to left of nonfacing aortic sinus (disorder)	Finding site	False	Heart structure	Inferred relationship	Some	2
Anomalous origin of left anterior descending artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus (disorder)	Finding site	False	Heart structure	Inferred relationship	Some	3
Common arterial trunk with pulmonary dominance co-occurrent with interrupted aortic arch (disorder)	Finding site	False	Heart structure	Inferred relationship	Some	2
Gated positron emission tomography with computed tomography of heart using sodium fluoride (18-F) (procedure)	Procedure site - Direct (attribute)	True	Heart structure	Inferred relationship	Some	1
Gated positron emission tomography with computed tomography of heart using sodium fluoride (18-F) (procedure)	Procedure site - Direct (attribute)	True	Heart structure	Inferred relationship	Some	2
On examination - pericardial rub present	Finding site	False	Heart structure	Inferred relationship	Some	1
à l'examen : frottement péricardique	Finding site	False	Heart structure	Inferred relationship	Some	1
Pericardial friction rub	Finding site	True	Heart structure	Inferred relationship	Some	1
A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested.	Finding site	True	Heart structure	Inferred relationship	Some	2
Bosley-Salih-Alorainy syndrome (BSAS) is characterised by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation.	Finding site	True	Heart structure	Inferred relationship	Some	1
A very rare syndrome described in three siblings of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit.	Finding site	True	Heart structure	Inferred relationship	Some	1
Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterised by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.	Finding site	True	Heart structure	Inferred relationship	Some	2
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterized by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established.	Finding site	True	Heart structure	Inferred relationship	Some	3
A rare genetic disease characterized by the association of unilateral complete or partial lung agenesis, complex congenital cardiac anomalies such as atrial septal defect, total anomalous pulmonary venous return, or patent ductus arteriosus, and ipsilateral or bilateral thumb abnormalities. Presence of facial dysmorphism and other malformative features has also been reported.	Finding site	True	Heart structure	Inferred relationship	Some	2
Common arterial trunk with pulmonary dominance co-occurrent with interrupted aortic arch (disorder)	Finding site	True	Heart structure	Inferred relationship	Some	3
Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short, webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin siblings born to consanguineous parents.	Finding site	True	Heart structure	Inferred relationship	Some	2
Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.	Finding site	True	Heart structure	Inferred relationship	Some	1
Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects.	Finding site	True	Heart structure	Inferred relationship	Some	1
Pericarditis secondary to Mulibrey nanism (disorder)	Finding site	True	Heart structure	Inferred relationship	Some	2
Thomas syndrome is characterized by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive.	Finding site	True	Heart structure	Inferred relationship	Some	1
Kallmann syndrome with cardiopathy is characterized by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome.	Finding site	True	Heart structure	Inferred relationship	Some	1
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.	Finding site	True	Heart structure	Inferred relationship	Some	2
A rare endocrine disease characterized by lentigines with a specific peri-orifical distribution, blue nevus, myxomas, various endocrine tumors including primary pigmented nodular adrenocortical disease (PPNAD), acromegaly, thyroid tumors, and a wide range of other tumors.	Finding site	True	Heart structure	Inferred relationship	Some	1
Replacement of cardiac biventricular implantable cardioverter defibrillator (procedure)	Procedure site - Indirect (attribute)	True	Heart structure	Inferred relationship	Some	1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine growth retardation, multiple congenital malformations (such as brain malformations including ectopic neuro-pituitary gland, hypoplastic adenopituitary, and hypoplastic cerebellar vermis, cardiac and renal anomalies, and postaxial polydactyly), abnormal hair structure with temporal balding, and dysmorphic facial features with hypoplastic nasal bridge, anteverted nostrils, dysplastic ears, long and smooth philtrum, narrow upper lip, and prominent, asymmetric lower lip. Postnatal growth retardation and severe developmental delay have also been reported.	Finding site	True	Heart structure	Inferred relationship	Some	2
A rare, life-threatening developmental defect during embryogenesis characterized by polysyndactyly of fingers and toes as well as complex congenital heart defects (e.g. atrioventricular septal defects, aortic dextroposition, single ventricle, hypo- or hypertrophy of one side of the heart). Additional features may include dysmorphic traits (large fontanel, high forehead, ptosis, hypertelorism, epicanthus, low-set malformed ears, prominent root of the nose, bulbous nose, anteverted nares, long and smooth philtrum, thin upper lip, micrognathism, hirsutism, single transverse crease) nail hypoplasia, phalange agenesis/hypoplasia, flexion contractures, polysplenia, multiple hepatic/renal cysts, atrophic biliary vesicle, ductal plate malformation and genital anomalies (e.g. micropenis, undescended testes, hypoplastic scrotum). The syndrome is usually fatal in utero or in infancy, but survival cases have been reported.	Finding site	True	Heart structure	Inferred relationship	Some	1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990.	Finding site	True	Heart structure	Inferred relationship	Some	2
A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).	Finding site	True	Heart structure	Inferred relationship	Some	1
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.	Finding site	True	Heart structure	Inferred relationship	Some	2
Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. There have been no further descriptions in the literature since 1984.	Finding site	True	Heart structure	Inferred relationship	Some	2
Anomalous origin of circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending coronary artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus	Finding site	False	Heart structure	Inferred relationship	Some	5
Anomalous origin of left anterior descending artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus (disorder)	Finding site	False	Heart structure	Inferred relationship	Some	5
Anomalous origin of left anterior descending artery and right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery from aortic sinus to left of nonfacing aortic sinus (disorder)	Finding site	False	Heart structure	Inferred relationship	Some	5
Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported.	Finding site	True	Heart structure	Inferred relationship	Some	3
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11.	Finding site	True	Heart structure	Inferred relationship	Some	2
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, intellectual disability, seizures, and congenital heart defects (e.g. atrial/ventricular septal defect, hypoplastic aortic arch with persistent ductus arteriosus). Additional manifestations include mild hypothyroidism, skeletal abnormalities, micropenis, delayed psychomotor development, dysmorphic facial features (including epicanthus, depressed nasal bridge, prominent antitragus), and pulmonary vascular occlusive disease. There have been no further descriptions in the literature since 1989.	Finding site	True	Heart structure	Inferred relationship	Some	2
Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.	Finding site	True	Heart structure	Inferred relationship	Some	1
A rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis. There have been no new reports since 1981.	Finding site	True	Heart structure	Inferred relationship	Some	1
Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.	Finding site	True	Heart structure	Inferred relationship	Some	1
Double outlet left ventricle	Finding site	True	Heart structure	Inferred relationship	Some	4
Complete transposition of great vessels	Finding site	True	Heart structure	Inferred relationship	Some	3
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is a rare X-linked syndromic intellectual disability disorder characterized by profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with overfolded helix) and large testes.	Finding site	False	Heart structure	Inferred relationship	Some	1
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.	Finding site	True	Heart structure	Inferred relationship	Some	3
Closed heart injury with haemopericardium	Finding site	True	Heart structure	Inferred relationship	Some	2
Stable angina due to coronary arteriosclerosis (disorder)	Finding site	True	Heart structure	Inferred relationship	Some	1
Closure of coronary sinus atrial septal defect	Procedure site - Indirect (attribute)	True	Heart structure	Inferred relationship	Some	2
Doubly committed ventricular septal defect in double outlet ventriculoarterial connection (disorder)	Finding site	False	Heart structure	Inferred relationship	Some	2
Patching of coronary sinus atrial septal defect	Procedure site - Indirect (attribute)	False	Heart structure	Inferred relationship	Some	2

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Reference Sets

Anatomy structure and entire association reference set (foundation metadata concept)

Anatomy structure and part association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
134173012	Heart	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
504537016	Heart structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
822101011	Heart structure (body structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2478860016	Cardiac structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
12301000077119	structure du cœur	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
117621000087110	cœur	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
919721000172117	structure cardiaque	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
965851000172118	cor	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module