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762228008: Congenital cardiovascular disorder (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3636221017 Congenital cardiovascular disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3636222012 Congenital cardiovascular disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5856361000241113 affection cardiovasculaire congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1638 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital cardiovascular disorder (disorder) Is a Disorder of cardiovascular system (disorder) true Inferred relationship Some
Congenital cardiovascular disorder (disorder) Is a Congenital disease true Inferred relationship Some
Congenital cardiovascular disorder (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital cardiovascular disorder (disorder) Finding site Structure of cardiovascular system (body structure) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital anomaly of cardiovascular system Is a True Congenital cardiovascular disorder (disorder) Inferred relationship Some
Rubella myocarditis Is a True Congenital cardiovascular disorder (disorder) Inferred relationship Some
Congenital stenosis of cardiac valve Is a False Congenital cardiovascular disorder (disorder) Inferred relationship Some
Congenital cardiac failure Is a True Congenital cardiovascular disorder (disorder) Inferred relationship Some
Congenital His bundle tachycardia Is a True Congenital cardiovascular disorder (disorder) Inferred relationship Some
Congenital peripheral aneurysm Is a False Congenital cardiovascular disorder (disorder) Inferred relationship Some
Congenital conduction defect Is a True Congenital cardiovascular disorder (disorder) Inferred relationship Some
Congenital vascular disorder (disorder) Is a True Congenital cardiovascular disorder (disorder) Inferred relationship Some
Fenestrated interatrial communication within oval fossa (disorder) Is a False Congenital cardiovascular disorder (disorder) Inferred relationship Some
Congenital stenosis of mitral subvalvular apparatus (disorder) Is a False Congenital cardiovascular disorder (disorder) Inferred relationship Some
Congenital pericardial effusion (disorder) Is a False Congenital cardiovascular disorder (disorder) Inferred relationship Some
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. Is a False Congenital cardiovascular disorder (disorder) Inferred relationship Some
Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterized by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter. Is a False Congenital cardiovascular disorder (disorder) Inferred relationship Some
This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH). Is a False Congenital cardiovascular disorder (disorder) Inferred relationship Some
Cardiomyopathy and renal anomaly syndrome (disorder) Is a False Congenital cardiovascular disorder (disorder) Inferred relationship Some
A rare autosomal dominant form of heart-hand syndrome that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. Is a False Congenital cardiovascular disorder (disorder) Inferred relationship Some
A rare syndromic cardiac disease characterized by communicating hydrocephalus, endocardial fibroelastosis, and congenital cataracts. A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the third trimester has been associated. No evidence of toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, syphilis, and galactosemia is reported. There have been no further descriptions in the literature since 1995. Is a False Congenital cardiovascular disorder (disorder) Inferred relationship Some
Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterized by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase. Is a False Congenital cardiovascular disorder (disorder) Inferred relationship Some
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. Is a True Congenital cardiovascular disorder (disorder) Inferred relationship Some
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. Is a False Congenital cardiovascular disorder (disorder) Inferred relationship Some
Congenital anomaly of atrioventricular valve Is a True Congenital cardiovascular disorder (disorder) Inferred relationship Some
Congenital anomaly of atrioventricular septum Is a False Congenital cardiovascular disorder (disorder) Inferred relationship Some
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound. Is a False Congenital cardiovascular disorder (disorder) Inferred relationship Some
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. Is a True Congenital cardiovascular disorder (disorder) Inferred relationship Some
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). Is a True Congenital cardiovascular disorder (disorder) Inferred relationship Some
Congenital septal defect of heart Is a False Congenital cardiovascular disorder (disorder) Inferred relationship Some
Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress. Is a True Congenital cardiovascular disorder (disorder) Inferred relationship Some
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterised by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975. Is a True Congenital cardiovascular disorder (disorder) Inferred relationship Some
A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia. Is a True Congenital cardiovascular disorder (disorder) Inferred relationship Some
Patent foramen ovale Is a False Congenital cardiovascular disorder (disorder) Inferred relationship Some
Cyanotic congenital heart disease Is a False Congenital cardiovascular disorder (disorder) Inferred relationship Some
Tripartite right ventricle (disorder) Is a True Congenital cardiovascular disorder (disorder) Inferred relationship Some
Posterior deviation of infundibular septum of obstructive aortic arch type (disorder) Is a False Congenital cardiovascular disorder (disorder) Inferred relationship Some
A rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures. Is a True Congenital cardiovascular disorder (disorder) Inferred relationship Some
Timothy syndrome is a multi-system disorder with characteristics of cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. Timothy syndrome is caused by mutations in the CACNA1C gene. It is inherited as autosomal dominant trait. Is a False Congenital cardiovascular disorder (disorder) Inferred relationship Some
Timothy syndrome is a multi-system disorder with characteristics of cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. Timothy syndrome is caused by mutations in the CACNA1C gene. It is inherited as autosomal dominant trait. Researchers have identified two forms of Timothy syndrome. Type 1, which is also known as the classic type, includes all of the characteristic features described above. Type 2, or the atypical type, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death. Unlike the classic type, the atypical type does not appear to cause webbing of the fingers or toes. Is a False Congenital cardiovascular disorder (disorder) Inferred relationship Some
A rare group of genetic, cardiac rhythm diseases with characteristics of a prolongation of the QT interval at basal electrocardiography (ECG) and by a high risk of life-threatening arrhythmias. The two cardinal manifestations are syncopal episodes, which may lead to cardiac arrest and sudden cardiac death, and electrocardiographic abnormalities: prolongation of the QT interval and T wave abnormalities. Inheritance may be autosomal dominant or autosomal recessive and depends on the genes involved. Is a False Congenital cardiovascular disorder (disorder) Inferred relationship Some
Congenital dysplasia of truncal valve Is a False Congenital cardiovascular disorder (disorder) Inferred relationship Some
Congenital hypoplasia of annulus fibrosus of aorta (disorder) Is a False Congenital cardiovascular disorder (disorder) Inferred relationship Some
Late congenital cardiovascular syphilis Is a True Congenital cardiovascular disorder (disorder) Inferred relationship Some
Endocardial fibroelastosis of right atrium Is a True Congenital cardiovascular disorder (disorder) Inferred relationship Some
Endocardial fibroelastosis of left atrium (disorder) Is a True Congenital cardiovascular disorder (disorder) Inferred relationship Some
Cardiac glycogenosis Is a True Congenital cardiovascular disorder (disorder) Inferred relationship Some
Congenital rhabdomyoma of heart Is a True Congenital cardiovascular disorder (disorder) Inferred relationship Some
Eye defects, arachnodactyly, cardiopathy syndrome Is a True Congenital cardiovascular disorder (disorder) Inferred relationship Some
A rare, multiple congenital anomalies syndrome with cardiac involvement as a major feature characterized by QT prolongation, congenital heart defects, syndactyly, facial dysmorphism and neurodevelopmental features. There are three clinical phenotypes recognized, the classical types that present with a prolonged QT interval and either with (TS1) or without (TS2) cutaneous syndactyly of fingers and toes. The atypical form (ATS) causes multi-system health concerns but not necessarily with prolonged QT. Is a True Congenital cardiovascular disorder (disorder) Inferred relationship Some

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