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363005004: Cardiovascular system hereditary disorder (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
482140017 Cardiovascular system hereditary disorder en Synonym Active Entire term case insensitive SNOMED CT core module
754780015 Cardiovascular system hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

199 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 Existential restriction modifier
Cardiovascular system hereditary disorder Is a Disorder of cardiovascular system true Inferred relationship Existential restriction modifier
Cardiovascular system hereditary disorder Finding site Structure of cardiovascular system true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Maternally inherited cardiomyopathy and hearing loss syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Keutel syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Muscle and heart glycogen synthase deficiency Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Polysyndactyly and cardiac malformation syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Atrial septal defect, atrioventricular conduction defect syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Cataract, congenital heart disease, neural tube defect syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Carney complex Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Long thumb brachydactyly syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Disorder of cardiovascular system co-occurrent and due to Marfan syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Facial dysmorphism, conductive hearing loss, heart defect syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
White forelock with malformations syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Neonatal Marfan syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Primary intraosseous venous malformation Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Cardiac arrhythmia ankyrin-B related Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Familial thoracic aortic aneurysm and aortic dissection Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Hypertension due to gain-of-function mutation in mineralocorticoid receptor Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Familial dilated cardiomyopathy with conduction defect due to lamin A/C mutation Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Familial bicuspid aortic valve Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Vasculitis due to adenosine deaminase 2 deficiency Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Sinoatrial node dysfunction and deafness Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Lamin A/C related cardiocutaneous progeria syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Genitopalatocardiac syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Polyglucosan body myopathy type 1 Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 17 Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Familial cervical artery dissection Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Lethal arteriopathy syndrome due to fibulin-4 deficiency Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Multisystemic smooth muscle dysfunction syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Familial dementia British type Is a False Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Subaortic stenosis and short stature syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Hereditary diffuse endocapillary proliferative glomerulonephritis Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Aneurysm osteoarthritis syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Fabry's disease Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Hereditary benign telangiectasia Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Neonatal purpura fulminans due to homozygous protein C deficiency Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Brugada syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Maternally inherited mitochondrial cardiomyopathy and myopathy Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Hereditary cavernous hemangioma of brain Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Hereditary cerebrovascular amyloidosis Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Kartagener syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Hereditary vascular fragility Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Congenital long QT syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Megalencephaly capillary malformation Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Familial pulmonary capillary hemangiomatosis Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Port-wine stain in proteus syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Cardiac glycogenosis Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive sick sinus syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Isomerism of right atrial appendage Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Fibrous skin tumor of tuberous sclerosis Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 23 Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Pontine autosomal dominant microangiopathy with leukoencephalopathy Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Intermediate epidermolysis bullosa simplex with cardiomyopathy Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Erythrokeratodermia cardiomyopathy syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Blood vessel epicardial substance related limb girdle muscular dystrophy Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Familial patent arterial duct Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Filamin A-related X-linked myxomatous valvular dysplasia Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Leukoencephalopathy with calcifications and cysts Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
HtrA serine peptidase 1-related autosomal dominant cerebral small vessel disease Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Mucopolysaccharidosis-like plus disease Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Integral membrane protein 2B related amyloidosis Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Localized hereditary amyloidosis of heart Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Maternally inherited mitochondrial cardiomyopathy Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Macrocephaly, intellectual disability, left ventricular non compaction syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Familial atrial tachyarrhythmia, infra-Hisian cardiac conduction disease Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Cathepsin A-related arteriopathy, strokes, leukoencephalopathy Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Eye defects, arachnodactyly, cardiopathy syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Familial cerebral saccular aneurysm Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Long QT syndrome type 11 Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Long QT syndrome type 10 Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Long QT syndrome type 3 Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Long QT syndrome type 12 Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Long QT syndrome type 13 Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Long QT syndrome type 4 Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Long QT syndrome type 5 Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Long QT syndrome type 2 Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Postural orthostatic tachycardia syndrome due to norepinephrine transporter deficiency Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Existential restriction modifier

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