Cardiovascular system hereditary disorder

Code	`363005004`
Semantic tag	disorder
Module	international
Definition	defined
Effective time	20020131

785808002Aneurysm osteoarthritis syndrome disorder

764457005Ankyrin-B syndrome disorder

763615003Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome disorder

253528005Arrhythmogenic right ventricular dysplasia disorder

720512007Arterial dissection and lentiginosis syndrome disorder

68504005Ataxia-telangiectasia syndrome disorder

720519003Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome disorder

725145002Atrial septal defect, atrioventricular conduction defect syndrome disorder

763066009Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome disorder

1351648007Autosomal recessive agammaglobulinaemia due to FNIP1 deficiency disorder

771476007Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome disorder

1156821008Autosomal recessive sick sinus syndrome disorder

1179295004BVES-related limb girdle muscular dystrophy disorder

717859007Beemer Ertbruggen syndrome disorder

720567008Bosley Salih Alorainy syndrome disorder

720568003Brachydactyly and arterial hypertension syndrome disorder

720575002Braddock syndrome disorder

418818005Brugada syndrome disorder

726031001CAMOS syndrome disorder

778060000COL4A1-related familial vascular leucoencephalopathy disorder

703533007Capillary malformation-arteriovenous malformation syndrome disorder

720605009Cardiac anomaly and heterotaxy syndrome disorder

297253000Cardiac glycogen phosphorylase kinase deficiency disorder

195025008Cardiac glycogenosis disorder

1332387008Cardiac urogenital syndrome disorder

720606005Cardiocranial syndrome Pfeiffer type disorder

720610008Cardiomyopathy and renal anomaly syndrome disorder

720609003Cardiomyopathy with cataract and hip spine disease syndrome disorder

720612000Cardiospondylocarpofacial syndrome disorder

726704006Cataract, congenital heart disease, neural tube defect syndrome disorder

1197429000Cathepsin A-related arteriopathy, strokes, leucoencephalopathy disorder

703219008Cerebral autosomal recessive arteriopathy with subcortical infarcts and leucoencephalopathy disorder

720507006Chronic atrial and intestinal dysrhythmia disorder

719456001Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome disorder

720639008Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome disorder

775908005Combined oxidative phosphorylation defect type 17 disorder

1173036000Combined oxidative phosphorylation defect type 23 disorder

717812000Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome disorder

1260142000Congenital vertebral, cardiac, renal anomalies syndrome disorder

720748007Cooper Jabs syndrome disorder

419097006Danon disease disorder

702424003Dilated cardiomyopathy 3B disorder

719451006Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome disorder

16055631000119106Disorder of cardiovascular system co-occurrent and due to Marfan syndrome disorder

720858001Ehlers-Danlos syndrome cardiac valvular type disorder

763280005Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome disorder

733032006Epilepsy telangiectasia syndrome disorder

1179293006Erythrokeratodermia cardiomyopathy syndrome disorder

771179007Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome disorder

1208342001Eye defects, arachnodactyly, cardiopathy syndrome disorder

1186709006FLNA-related X-linked myxomatous valvular dysplasia disorder

16652001Fabry's disease disorder

763279007Facial dysmorphism, conductive hearing loss, heart defect syndrome disorder

771515001Facial dysmorphism, immunodeficiency, livedo, short stature syndrome disorder

723333000Faciocardiorenal syndrome disorder

723336008Fallot complex with intellectual disability and growth delay syndrome disorder

1197418004Familial atrial tachyarrhythmia, infra-Hisian cardiac conduction disease disorder

770435005Familial bicuspid aortic valve disorder

703226008Familial cerebral saccular aneurysm disorder

782823001Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome disorder

766883006Familial dilated cardiomyopathy with conduction defect due to LMNA mutation disorder

95656000Familial hemiplegic migraine disorder

442917000Familial long QT syndrome disorder

1179298002Familial patent arterial duct disorder

234161007Familial pulmonary capillary haemangiomatosis disorder

764965000Familial thoracic aortic aneurysm and aortic dissection disorder

1230303001Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease disorder

459062008Fatal congenital nonlysosomal heart glycogenosis disorder

36025004Fibrous skin tumour of tuberous sclerosis disorder

1186711002GNB5-related intellectual disability, cardiac arrhythmia syndrome disorder

773749003Genitopalatocardiac syndrome disorder

715644000Glomuvenous malformation disorder

702428000HANAC - hereditary angiopathy with nephropathy, aneurysms, and muscle cramps disorder

1186724002HTRA1-related autosomal dominant cerebral small vessel disease disorder

721009008Heart defect and limb shortening syndrome disorder

721014007Heart-hand syndrome Slovenian type disorder

724361001Hepatic veno-occlusive disease with immunodeficiency syndrome disorder

718602007Hereditary arterial and articular multiple calcification syndrome disorder

238764001Hereditary benign telangiectasia disorder

717003001Hereditary cavernous haemangioma of brain disorder

237867001Hereditary cerebrovascular amyloidosis disorder

403776002Hereditary cutaneous vascular syndrome disorder

367531000119106Hereditary diffuse endocapillary proliferative glomerulonephritis disorder

461415008Hereditary dysplasia of blood vessel disorder

191329002Hereditary vascular fragility disorder

697899000Heritable pulmonary arterial hypertension due to BMPR2 mutation disorder

19092004Holt-Oram syndrome disorder

766937004Hypertension due to gain-of-function mutation in mineralocorticoid receptor disorder

718713000Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome disorder

776416004Hyperuricaemia, pulmonary hypertension, renal failure, alkalosis syndrome disorder

723363009Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome disorder

1187126002ITM2B-related amyloidosis disorder

771513008Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency disorder

1177176009Intermediate epidermolysis bullosa simplex with cardiomyopathy disorder

718135001Isolated right ventricular hypoplasia disorder

253336000Isomerism of right atrial appendage disorder

722006004Isotretinoin-like syndrome disorder

50855007Juvenile haemochromatosis disorder

722027009Kallman syndrome with heart disease disorder

42402006Kartagener syndrome disorder

724208006Keutel syndrome disorder

773426004LMNA-related cardiocutaneous progeria syndrome disorder

763778003Larsen-like syndrome B3GAT3 type disorder

782773005Lethal arteriopathy syndrome due to fibulin-4 deficiency disorder

1229876001Lethal brain and heart developmental defects syndrome disorder

719400000Lethal faciocardiomelic dysplasia disorder

1172839002Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome disorder

1186710001Leucoencephalopathy with calcifications and cysts disorder

1187149000Localised hereditary cardiac amyloidosis disorder

733454004Long thumb brachydactyly syndrome disorder

721976003Lung agenesis with heart defect and thumb anomaly syndrome disorder

721979005Lymphoedema and cerebral arteriovenous anomaly syndrome disorder

721978002Lymphoedema, atrial septal defect, facial changes syndrome disorder

1187642008Macrocephaly, intellectual disability, left ventricular non compaction syndrome disorder

724173009Maternally inherited cardiomyopathy and hearing loss syndrome disorder

1187635008Maternally inherited mitochondrial cardiomyopathy disorder

700063005Megalencephaly capillary malformation disorder

719380003Microcephalus cardiomyopathy syndrome disorder

719379001Microcephalus with cardiac defect and lung malsegmentation syndrome disorder

764732004Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome disorder

703369003Microcephaly-capillary malformation syndrome disorder

771478008Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency disorder

724097003Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome disorder

718551002Moyamoya disease with early onset achalasia disorder

1187113001Mucopolysaccharidosis-like plus disease disorder

782724001Multisystemic smooth muscle dysfunction syndrome disorder

725027004Muscle and heart glycogen synthase deficiency disorder

763839005Neonatal Marfan syndrome disorder

1186718008Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome disorder

402851000Neonatal purpura fulminans due to homozygous protein C deficiency disorder

1222710008Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome disorder

358501000112100PRKAG2 syndrome disorder

722206009Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome disorder

722211006Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome disorder

774148007Polyglucosan body myopathy type 1 disorder

724066002Polysyndactyly and cardiac malformation syndrome disorder

723448007Polyvalvular heart disease syndrome disorder

1173997008Pontine autosomal dominant microangiopathy with leucoencephalopathy disorder

403765001Port-wine stain in Rubinstein-Taybi syndrome disorder

403856000Port-wine stain in proteus syndrome disorder

1217211002Postural orthostatic tachycardia syndrome due to norepinephrine transporter deficiency disorder

764100007Primary intraosseous venous malformation disorder

1279844009Primary triglyceride deposit cardiomyovasculopathy disorder

719272007Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome disorder

236529001Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness disorder

1197430005QRSL1-related combined oxidative phosphorylation defect disorder

724002003Rambaud Gallian syndrome disorder

1172698005Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome disorder

764452004Retinal arterial macroaneurysm with supravalvular pulmonic stenosis disorder

783787000Retinal vasculopathy with cerebral leucoencephalopathy and systemic manifestations disorder

711164003STING-associated vasculopathy with onset in infancy disorder

763867001Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal naevus syndrome disorder

723993005Sensorineural deafness with dilated cardiomyopathy syndrome disorder

1187212004Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome disorder

716193004Short stature with valvular heart disease and characteristic facies syndrome disorder

721073008Short stature with webbed neck and congenital heart disease syndrome disorder

1237512003Short stature, developmental delay, congenital heart defect syndrome disorder

770784003Sinoatrial node dysfunction and deafness disorder

715987000Sonoda syndrome disorder

783096008Subaortic stenosis and short stature syndrome disorder

718212006TMEM70 related mitochondrial encephalo-cardio-myopathy disorder

1222708006TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome disorder

716740009Thomas syndrome disorder

715655000Transthyretin related familial amyloid cardiomyopathy disorder

719839000Tubular renal disease with cardiomyopathy syndrome disorder

373420004Upshaw-Schulman syndrome disorder

1366188001Vascular Ehlers-Danlos, polymicrogyria syndrome disorder

770687001Vasculitis due to adenosine deaminase 2 deficiency disorder

719824001Vici syndrome disorder

763619009White forelock with malformations syndrome disorder

719835006Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome disorder

773587008X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome disorder

1373745005X-linked severe syndromic thoracic aortic aneurysm and dissection disorder

Cardiovascular system hereditary disorder

Parents (2)

Children (173)