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363005004: Cardiovascular system hereditary disorder (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
482140017 Cardiovascular system hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
754780015 Cardiovascular system hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5228921000241114 trouble héréditaire du système cardiovasculaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

208 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Cardiovascular system hereditary disorder Is a Hereditary disorder by system true Inferred relationship Some
Cardiovascular system hereditary disorder Is a Disorder of cardiovascular system (disorder) true Inferred relationship Some
Cardiovascular system hereditary disorder Finding site Structure of cardiovascular system (body structure) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Dilated cardiomyopathy due to phytanic acid storage disease Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Becker muscular dystrophy Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Cardiac glycogen phosphorylase kinase deficiency Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Sturge-Weber syndrome Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Gouty tophus of heart Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Familial cardiomyopathy Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary oculoleptomeningeal amyloid angiopathy Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary cerebral amyloid angiopathy, Icelandic type Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary cerebral amyloid angiopathy, Dutch type Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Dilated cardiomyopathy due to glycogen storage disease (disorder) Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Restrictive cardiomyopathy secondary to glycogen storage disease Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary coproporphyria Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Restrictive cardiomyopathy due to mucopolysaccharidosis Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Dilated cardiomyopathy due to mucopolysaccharidosis Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Jervell and Lange-Nielsen syndrome Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Pericarditis due to familial Mediterranean fever (disorder) Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Jervell and Lange-Nielson syndrome Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary cutaneous vascular syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Ataxia-telangiectasia syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Familial hemiplegic migraine Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Danon disease Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Andersen Tawil syndrome (disorder) Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Sturge-Weber syndrome Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Fatal congenital nonlysosomal heart glycogenosis (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary dysplasia of blood vessel (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Pulmonary hypertension in neurofibromatosis (disorder) Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Heritable pulmonary arterial hypertension due to BMPR2 mutation Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Ohdo syndrome, Maat-Kievit-Brunner type Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Upshaw-Schulman syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Port-wine stain in Rubinstein-Taybi syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Dilated cardiomyopathy 3B (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Arrhythmogenic right ventricular dysplasia (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary cystatin C amyloid angiopathy Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Microcephaly-capillary malformation syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Capillary malformation-arteriovenous malformation syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
STING-associated vasculopathy with onset in infancy (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
A rare vascular anomaly or angioma characterized by the presence of small, multifocal bluish-purple venous lesions mainly involving the skin. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
A rare hereditary Transthyretin (TTR)-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Short stature-valvular heart disease-characteristic facies syndrome is characterized by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
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. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypertrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
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 Cardiovascular system hereditary disorder Inferred relationship Some
Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases. Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints. Is a True Cardiovascular system hereditary 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 True Cardiovascular system hereditary disorder Inferred relationship Some
A rare disorder characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
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. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Microcephaly-cardiomyopathy syndrome is characterized by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
An extremely rare polymalformative syndrome. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH). Is a True Cardiovascular system hereditary disorder Inferred relationship Some
A rare multiple congenital anomaly syndrome characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs may be additionally observed. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. Is a False Cardiovascular system hereditary disorder Inferred relationship Some
A rare genetic ectodermal dysplasia syndrome characterised by woolly hair (presenting at birth), palmoplantar keratoderma (developing in the first year of life) and dilated cardiomyopathy with predominant left ventricle involvement (developing in childhood) which can lead to life-threatening heart failure in childhood or adolescence. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
A rare renal disease characterized by hypokalemic metabolic alkalosis secondary to a tubulopathy, hypomagnesemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. Is a True Cardiovascular system hereditary 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 Cardiovascular system hereditary 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 Cardiovascular system hereditary disorder Inferred relationship Some
Cardiac anomalies-heterotaxy syndrome is characterized 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 Cardiovascular system hereditary disorder Inferred relationship Some
A rare, multiple congenital anomalies syndrome with intellectual disability commonly characterized by facial dysmorphism (e.g. sagittal craniosynostosis, hypertelorism, strabismus, low-set dysplastic ears, retrognathia or micrognathia, mandibular ankyloses, cleft palate, aplasia uvulae), congenital heart defects (e.g. atrioventricular septal defect, anomalous venous return), genital anomalies (e.g. cryptorchidism, microphallus), as well as growth delay and intellectual disability. In some cases, tracheobronchial anomalies, large joint contractures, syndactyly, rib anomalies and hypoplastic kidneys are reported. Rarely, no cardiac anomaly may be reported. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
A rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral discs, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Cardiomyopathy and renal anomaly syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, feeding difficulty and failure to thrive, cardiac anomalies (septal defects and/or valve dysplasia), joint laxity, short extremities, brachydactyly, carpal and tarsal fusion, cervical vertebral fusion, inner ear malformation with bilateral conductive hearing loss, and dysmorphic facial features (such as hypertelorism, upslanting palpebral fissures, posteriorly rotated ears, anteverted nares, and long philtrum). Additional variable manifestations include gastroesophageal reflux and genitourinary anomalies, among others. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
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. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
A rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
A rare association syndrome, reported in several members of two families to date, characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities). Is a True Cardiovascular system hereditary disorder Inferred relationship Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by auditory canal atresia (resulting in moderate conductive hearing loss) associated with intellectual disability, ventricular septal defect, umbilical hernia, anteriorly displaced anus, various skeletal anomalies (such as mild clubfoot, long fifth fingers, proximally placed thumbs), and craniofacial dysmorphism which includes brachycephaly, prominent forehead, flattened occiput, midface hypoplasia, anteverted nares, and low set, posteriorly rotated ears with overlapping superior helix. There have been no further descriptions in the literature since 1987. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Cerebroretinal vasculopathy Is a False Cardiovascular system hereditary disorder Inferred relationship Some
A rare form of Ehlers-Danlos syndrome (EDS) characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and severe, progressive cardiac valvular defects comprising mitral and/or aortic valve insufficiency. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
syndrome d'Ehlers-Danlos type vasculaire-like Is a False Cardiovascular system hereditary disorder Inferred relationship Some
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
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 Cardiovascular system hereditary 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 True Cardiovascular system hereditary disorder Inferred relationship Some
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. Is a True Cardiovascular system hereditary 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 True Cardiovascular system hereditary disorder Inferred relationship Some
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. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
rétinopathie vasculaire héréditaire Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary endotheliopathy, retinopathy, nephropathy, stroke syndrome Is a False Cardiovascular system hereditary disorder Inferred relationship Some
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. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Lymphedema-atrial septal defects-facial changes syndrome is characterized by congenital lymphedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Lymphedema-cerebral arteriovenous anomaly syndrome is characterized by the variable association of a cerebrovascular malformation, foot lymphedema and primary pulmonary hypertension. It has been described in a woman and four of her children. There have been no further descriptions in the literature since 1986. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
A rare genetic disease characterized by co-occurrence of sick sinus syndrome (manifesting as sinus bradycardia, often requiring pacemaker implantation) and chronic intestinal pseudo-obstruction (which may be of myogenic or neurogenic origin and usually requires total parenteral nutrition), with an age of onset within the first four decades of life. Other cardiac features, such as atrial flutter or fibrillation and valve anomalies, may also be present. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
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. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
A rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
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 Cardiovascular system hereditary disorder Inferred relationship Some
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
A rare systemic disease characterized by progressive hyalinosis involving capillaries, arterioles and small veins of the digestive tract, kidneys, and retina, associated with idiopathic cerebral calcifications, manifesting with severe diarrhea (with rectal bleeding and malabsorption), nephropathy (with renal failure and systemic hypertension), chorioretinal scarring, and subarachnoid hemorrhage. Poikiloderma and premature graying of the hair may be additionally observed. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
A rare genetic cerebral small vessel disease characterized by amyloid deposition in the cerebral blood vessels leading to predominantly hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia. Is a False Cardiovascular system hereditary disorder Inferred relationship Some
A rare syndrome with combined immunodeficiency characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism. Is a True Cardiovascular system hereditary disorder Inferred relationship Some
A rare mitochondrial disease that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external ophthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance. Is a True Cardiovascular system hereditary disorder Inferred relationship Some

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