13213009: Congenital heart disease (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)

\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding (finding)\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding (finding)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)
\Cardiovascular finding\Disorder of cardiovascular system\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)
\Cardiovascular finding\Disorder of cardiovascular system\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital heart disease (disorder)	Is a	Heart disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital heart disease (disorder)	Is a	Congenital disease and abnormality of heart, thoracic aorta and pericardium	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital heart disease (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital heart disease (disorder)	Finding site	Heart structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital heart disease (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital heart disease (disorder)	Finding site	Cardiovascular system subdivision	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital heart disease (disorder)	Finding site	Intrathoracic cardiovascular structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital heart disease (disorder)	Finding site	Structure of cardiovascular system (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital heart disease (disorder)	Finding site	Cardiac structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital heart disease (disorder)	Is a	Disorder of blood vessels of thorax (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital heart disease (disorder)	Is a	Congenital vascular disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital heart disease (disorder)	Is a	Congenital anomaly of trunk	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital heart disease (disorder)	Is a	Congenital anomaly of cardiovascular system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital heart disease (disorder)	Is a	Heart disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital heart disease (disorder)	Is a	Congenital disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital heart disease (disorder)	Finding site	Heart structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital heart disease (disorder)	Is a	Structural disorder of heart	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital heart disease (disorder)	Is a	Congenital anomaly of body cavity	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital heart disease (disorder)	Is a	Congenital anomaly of thorax	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital heart disease (disorder)	Is a	Congenital anomaly of cardiovascular structure of trunk	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital heart disease (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital heart disease (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital heart disease (disorder)	Finding site	Heart structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital heart disease (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital heart disease (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital heart disease (disorder)	Finding site	Heart structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital heart disease (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital heart disease (disorder)	Finding site	Heart structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital heart disease (disorder)	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital heart disease (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Fallot's trilogy (disorder)	Is a	False	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
dégénérescence myxomateuse d'une valve cardiaque	Is a	False	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Ventricular septal defect	Is a	False	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Premature closure of foramen ovale	Is a	False	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Endocardial fibroelastosis unassociated with other cardiac abnormalities.	Is a	False	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Cor triloculare biventriculare (disorder)	Is a	False	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Right ventricular outflow tract atresia (disorder)	Is a	False	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Left ventricular outflow tract atresia	Is a	False	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital septal defect of heart	Is a	False	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital right ventricular aneurysm (disorder)	Is a	False	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Holt-Oram syndrome	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Aorta to right ventricle tunnel	Is a	False	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Anterior deviation of infundibular septum of Fallot type (disorder)	Is a	False	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Atresia of pulmonary artery with septal defect (disorder)	Is a	False	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Andersen Tawil syndrome	Is a	False	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital pulmonary venous atrium	Is a	False	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital systemic venous atrium	Is a	False	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Family history of complex congenital heart disease (situation)	Associated finding	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Potter sequence cleft lip and palate cardiopathy syndrome (disorder)	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse.	Is a	False	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare congenital cardiac malformation that is a variant of an atrioventricular septal defect (AVSD) with an interatrial communication (ostium primum defect) just above the common atrioventricular (AV) valve, no interventricular communication just below the atrioventricular valve, a common atrioventricular junction but separate right and left atrioventricular valvar orifices, and a three-leaflet, left-sided component of the common atrioventricular valve (cleft). Shunting is restricted to the atrial level because of fusion of the leaflets of the common AV valve with the crest of the ventricular septum.	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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.	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
3C syndrome	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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.	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder)	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterised 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.	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal faciocardiomelic dysplasia (disorder)	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder)	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Cardiac anomalies-heterotaxy syndrome is characterised by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported.	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Cardiocranial syndrome Pfeiffer type (disorder)	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Bosley Salih Alorainy syndrome (disorder)	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
CHIME syndrome is a rare ectodermal dysplasia syndrome characterised by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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.	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Heart-hand syndrome type 2 (disorder)	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterised 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.	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Short stature with webbed neck and congenital heart disease syndrome	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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.	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Lung agenesis with heart defect and thumb anomaly syndrome	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Kallman syndrome with heart disease	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised 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.	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Meacham syndrome (disorder)	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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).	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Microcephaly, seizure, intellectual disability, heart disease syndrome	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Faciocardiorenal syndrome (disorder)	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Polysyndactyly and cardiac malformation syndrome (disorder)	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11.	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Cataract, congenital heart disease, neural tube defect syndrome	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Facial dysmorphism, conductive hearing loss, heart defect syndrome	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder)	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Oro-facial digital syndrome type 12	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Oro-facial digital syndrome type 13	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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.	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital anomaly of cardiac chamber (disorder)	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Carney complex (disorder)	Is a	False	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Carney complex, trismus, pseudocamptodactyly syndrome (disorder)	Is a	False	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Vascular ring with malrotation and dextroversion of heart and hypoplasia of right lung and left arterial duct (disorder)	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder)	Is a	False	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
malrotation cardiaque congénitale	Is a	False	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Heart defect, tongue hamartoma, polysyndactyly syndrome	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Formation of conduit of right ventricle and pulmonary artery in repair of pulmonary artery atresia in truncus arteriosus (procedure)	Has focus	False	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Creation of conduit of right ventricle and pulmonary artery in repair of pulmonary artery atresia	Has focus	False	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Correction of congenital deformity of heart (procedure)	Has focus	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Closure of coronary sinus atrial septal defect	Has focus	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Patching of coronary sinus atrial septal defect	Has focus	False	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Williams syndrome	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Disorder of ascending aorta due to conotruncal malformation	Due to	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Acquired abnormality of aorta due to congenital heart anomaly (disorder)	Due to	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital endocardial fibroelastosis (disorder)	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Correction of congenital cardiovascular deformity (procedure)	Has focus	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Percutaneous transluminal ablation of congenital heart malformation	Has focus	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mucopolysaccharidosis-like plus disease	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Aortic aneurysm due to congenital heart disease	Due to	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay or regression, variable congenital heart defects (such as patent ductus arteriosus, atrial or ventricular septal defects, and double outlet right ventricle, among others), and dysmorphic features (including ptosis, epicanthal folds, abnormally set/dysplastic ears, low hairline or excess nuchal skin, wide-spaced/inverted nipples, umbilical hernia or diastasis recti, and digital anomalies). Additional variable manifestations are hyper- or hypotonia, seizures, hearing loss, cortical blindness, and optic atrophy. Brain imaging may show cerebral and cerebellar atrophy and hydrocephalus.	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Secondary hypertension due to congenital heart disorder (disorder)	Due to	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hypercyanotic spell due to congenital heart disease (finding)	Due to	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder)	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal brain and heart developmental defects syndrome (disorder)	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Short stature, developmental delay, congenital heart defect syndrome (disorder)	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome (disorder)	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital vertebral, cardiac, renal anomalies syndrome (disorder)	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Cardiac urogenital syndrome (disorder)	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder)	Is a	True	Congenital heart disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

Start Previous Page 3 of 3

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
22613011	Congenital heart disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
22616015	Congenital anomaly of heart	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
475118011	CHD - Congenital heart disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
736630010	Congenital heart disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
22613011	Congenital heart disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
22613011	Congenital heart disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
22616015	Congenital anomaly of heart	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
22616015	Congenital anomaly of heart	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
475118011	CHD - Congenital heart disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
736630010	Congenital heart disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
736630010	Congenital heart disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
163121000274113	Angeborene Herzkrankheit	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
163131000274110	Kongenitaler Herzfehler	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
389601000274115	Angeborene Herzerkrankung	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1641000172110	maladie cardiaque congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1641000172110	maladie cardiaque congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
163121000274113	Angeborene Herzkrankheit	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
163131000274110	Kongenitaler Herzfehler	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
389601000274115	Angeborene Herzerkrankung	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module