Cardiovascular system hereditary disorder   363005004

SNOMED CT code


SNOMED code363005004
nameCardiovascular system hereditary disorder
statusactive
date introduced2002-01-31
fully specified name(s)Cardiovascular system hereditary disorder (disorder)
synonymsCardiovascular system hereditary disorder
attributes - group1
Finding siteCardiovascular structure   113257007
parents
  • Hereditary disorder by system   363137000
  • Disorder of cardiovascular system   49601007
children
  • Aneurysm osteoarthritis syndrome   785808002
  • Ankyrin-B syndrome   764457005
  • Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome   763615003
  • Arrhythmogenic right ventricular dysplasia   253528005
  • Arterial dissection and lentiginosis syndrome   720512007
  • Ataxia-telangiectasia syndrome   68504005
  • Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome   720519003
  • Atrial septal defect, atrioventricular conduction defect syndrome   725145002
  • Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome   763066009
  • Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome   771476007
  • Autosomal recessive sick sinus syndrome   1156821008
  • Becker muscular dystrophy   111507009  removed: 2003-01-31
  • Beemer Ertbruggen syndrome   717859007
  • Bosley Salih Alorainy syndrome   720567008
  • Brachydactyly and arterial hypertension syndrome   720568003
  • Braddock syndrome   720575002
  • Brugada syndrome   418818005
  • BVES-related limb girdle muscular dystrophy   1179295004
  • CAMOS syndrome   726031001
  • Capillary malformation-arteriovenous malformation syndrome   703533007
  • Cardiac anomaly and heterotaxy syndrome   720605009
  • Cardiac glycogen phosphorylase kinase deficiency   297253000
  • Cardiac glycogenosis   195025008
  • Cardiocranial syndrome Pfeiffer type   720606005
  • Cardiomyopathy and renal anomaly syndrome   720610008
  • Cardiomyopathy with cataract and hip spine disease syndrome   720609003
  • Cardiospondylocarpofacial syndrome   720612000
  • Carney complex   733491005
  • Cataract, congenital heart disease, neural tube defect syndrome   726704006
  • Cathepsin A-related arteriopathy, strokes, leukoencephalopathy   1197429000
  • Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy   703219008
  • Chronic atrial and intestinal dysrhythmia   720507006
  • Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome   719456001
  • COL4A1-related familial vascular leukoencephalopathy   778060000
  • Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome   720639008
  • Combined oxidative phosphorylation defect type 17   775908005
  • Combined oxidative phosphorylation defect type 23   1173036000
  • Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome   717812000
  • Congenital vertebral, cardiac, renal anomalies syndrome   1260142000
  • Cooper Jabs syndrome   720748007
  • Danon disease   419097006
  • Dilated cardiomyopathy 3B   702424003
  • Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome   719451006
  • Disorder of cardiovascular system co-occurrent and due to Marfan syndrome   16055631000119106
  • Ehlers-Danlos syndrome cardiac valvular type   720858001
  • Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome   763280005
  • Erythrokeratodermia cardiomyopathy syndrome   1179293006
  • Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome   771179007
  • Eye defects, arachnodactyly, cardiopathy syndrome   1208342001
  • Fabry's disease   16652001
  • Facial dysmorphism, conductive hearing loss, heart defect syndrome   763279007
  • Facial dysmorphism, immunodeficiency, livedo, short stature syndrome   771515001
  • Faciocardiorenal syndrome   723333000
  • Fallot complex with intellectual disability and growth delay syndrome   723336008
  • Familial atrial tachyarrhythmia, infra-Hisian cardiac conduction disease   1197418004
  • Familial bicuspid aortic valve   770435005
  • Familial cerebral saccular aneurysm   703226008
  • Familial cervical artery dissection   778061001
  • Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome   782823001
  • Familial dilated cardiomyopathy with conduction defect due to LMNA mutation   766883006
  • Familial hemiplegic migraine   95656000
  • Familial long QT syndrome   442917000
  • Familial patent arterial duct   1179298002
  • Familial pulmonary capillary hemangiomatosis   234161007
  • Familial thoracic aortic aneurysm and aortic dissection   764965000
  • Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease   1230303001
  • Fatal congenital nonlysosomal heart glycogenosis   459062008
  • Fibrous skin tumor of tuberous sclerosis   36025004
  • FLNA-related X-linked myxomatous valvular dysplasia   1186709006
  • Genitopalatocardiac syndrome   773749003
  • Glomuvenous malformation   715644000
  • GNB5-related intellectual disability, cardiac arrhythmia syndrome   1186711002
  • Heart defect and limb shortening syndrome   721009008
  • Heart-hand syndrome Slovenian type   721014007
  • Hepatic veno-occlusive disease with immunodeficiency syndrome   724361001
  • Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome   702428000
  • Hereditary arterial and articular multiple calcification syndrome   718602007
  • Hereditary benign telangiectasia   238764001
  • Hereditary cavernous hemangioma of brain   717003001
  • Hereditary cerebrovascular amyloidosis   237867001
  • Hereditary cutaneous vascular syndrome   403776002
  • Hereditary cystatin C amyloid angiopathy   703220002  removed: 2020-07-31
  • Hereditary diffuse endocapillary proliferative glomerulonephritis   367531000119106
  • Hereditary dysplasia of blood vessel   461415008
  • Hereditary vascular fragility   191329002
  • Heritable pulmonary arterial hypertension due to BMPR2 mutation   697899000
  • Holt-Oram syndrome   19092004
  • HTRA1-related autosomal dominant cerebral small vessel disease   1186724002
  • Hypertension due to gain-of-function mutation in mineralocorticoid receptor   766937004
  • Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome   718713000
  • Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome   776416004
  • Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome   723363009
  • Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency   771513008
  • Intermediate epidermolysis bullosa simplex with cardiomyopathy   1177176009
  • Isolated right ventricular hypoplasia   718135001
  • Isomerism of right atrial appendage   253336000
  • Isotretinoin-like syndrome   722006004
  • ITM2B-related amyloidosis   1187126002
  • Kallman syndrome with heart disease   722027009
  • Kartagener syndrome   42402006
  • Keutel syndrome   724208006
  • Larsen-like syndrome B3GAT3 type   763778003
  • Lethal arteriopathy syndrome due to fibulin-4 deficiency   782773005
  • Lethal brain and heart developmental defects syndrome   1229876001
  • Lethal faciocardiomelic dysplasia   719400000
  • Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome   1172839002
  • Leukoencephalopathy with calcifications and cysts   1186710001
  • LMNA-related cardiocutaneous progeria syndrome   773426004
  • Localized hereditary cardiac amyloidosis   1187149000
  • Long thumb brachydactyly syndrome   733454004
  • Lung agenesis with heart defect and thumb anomaly syndrome   721976003
  • Lymphedema and cerebral arteriovenous anomaly syndrome   721979005
  • Lymphedema, atrial septal defect, facial changes syndrome   721978002
  • Macrocephaly, intellectual disability, left ventricular non compaction syndrome   1187642008
  • Maternally inherited cardiomyopathy and hearing loss syndrome   724173009
  • Maternally inherited mitochondrial cardiomyopathy   1187635008
  • Maternally inherited mitochondrial cardiomyopathy and myopathy   472320005
  • Megalencephaly capillary malformation   700063005
  • Microcephalus cardiomyopathy syndrome   719380003
  • Microcephalus with cardiac defect and lung malsegmentation syndrome   719379001
  • Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome   764732004
  • Microcephaly-capillary malformation syndrome   703369003
  • Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency   771478008
  • Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome   724097003
  • Moyamoya disease with early onset achalasia   718551002
  • Mucopolysaccharidosis-like plus disease   1187113001
  • Multisystemic smooth muscle dysfunction syndrome   782724001
  • Muscle and heart glycogen synthase deficiency   725027004
  • Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome   1186718008
  • Neonatal Marfan syndrome   763839005
  • Neonatal purpura fulminans due to homozygous protein C deficiency   402851000
  • Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome   1222710008
  • Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome   722206009
  • Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome   722211006
  • Polyglucosan body myopathy type 1   774148007
  • Polysyndactyly and cardiac malformation syndrome   724066002
  • Polyvalvular heart disease syndrome   723448007
  • Pontine autosomal dominant microangiopathy with leukoencephalopathy   1173997008
  • Port-wine stain in proteus syndrome   403856000
  • Port-wine stain in Rubinstein-Taybi syndrome   403765001
  • Postural orthostatic tachycardia syndrome due to norepinephrine transporter deficiency   1217211002
  • Primary intraosseous venous malformation   764100007
  • Primary triglyceride deposit cardiomyovasculopathy   1279844009
  • Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome   719272007
  • Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness   236529001
  • QRSL1-related combined oxidative phosphorylation defect   1197430005
  • Rambaud Gallian syndrome   724002003
  • Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome   1172698005
  • Retinal arterial macroaneurysm with supravalvular pulmonic stenosis   764452004
  • Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations   783787000
  • Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome   763867001
  • Sensorineural deafness with dilated cardiomyopathy syndrome   723993005
  • Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome   1187212004
  • Short stature with valvular heart disease and characteristic facies syndrome   716193004
  • Short stature with webbed neck and congenital heart disease syndrome   721073008
  • Short stature, developmental delay, congenital heart defect syndrome   1237512003
  • Sinoatrial node dysfunction and deafness   770784003
  • Sonoda syndrome   715987000
  • STING-associated vasculopathy with onset in infancy   711164003
  • Subaortic stenosis and short stature syndrome   783096008
  • Thomas syndrome   716740009
  • TMEM70 related mitochondrial encephalo-cardio-myopathy   718212006
  • TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome   1222708006
  • Transthyretin related familial amyloid cardiomyopathy   715655000
  • Tubular renal disease with cardiomyopathy syndrome   719839000
  • Upshaw-Schulman syndrome   373420004
  • Vasculitis due to adenosine deaminase 2 deficiency   770687001
  • Vici syndrome   719824001
  • White forelock with malformations syndrome   763619009
  • Wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome   719835006
  • X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome   773587008
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Hereditary disorder by system   363137000
          Cardiovascular system hereditary disorder   363005004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Disorder of cardiovascular system   49601007
        Cardiovascular system hereditary disorder   363005004

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