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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

203 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
Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Keutel syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Muscle and heart glycogen synthase deficiency (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Polysyndactyly and cardiac malformation syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Atrial septal defect, atrioventricular conduction defect syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Carney complex (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Long thumb brachydactyly syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Disorder of cardiovascular system co-occurrent and due to Marfan syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Facial dysmorphism, conductive hearing loss, heart defect syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
White forelock with malformations syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Larsen-like syndrome B3GAT3 type Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Neonatal Marfan syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Primary intraosseous venous malformation (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Ankyrin-B syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Familial thoracic aortic aneurysm and aortic dissection Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Hypertension due to gain-of-function mutation in mineralocorticoid receptor (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Familial bicuspid aortic valve (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Vasculitis due to adenosine deaminase 2 deficiency Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Sinoatrial node dysfunction and deafness Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
LMNA-related cardiocutaneous progeria syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Genitopalatocardiac syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Polyglucosan body myopathy type 1 (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 17 (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Familial cervical artery dissection (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Multisystemic smooth muscle dysfunction syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Familial dementia British type (disorder) Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Subaortic stenosis and short stature syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary diffuse endocapillary proliferative glomerulonephritis (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Aneurysm osteoarthritis syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Fabry's disease Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary benign telangiectasia Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Neonatal purpura fulminans due to homozygous protein C deficiency (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Brugada syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Maternally inherited mitochondrial cardiomyopathy and myopathy Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary cavernous hemangioma of brain (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary cerebrovascular amyloidosis Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Kartagener syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary vascular fragility Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Familial long QT syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Megalencephaly capillary malformation Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Familial pulmonary capillary haemangiomatosis Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Port-wine stain in proteus syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Cardiac glycogenosis Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Autosomal recessive sick sinus syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Isomerism of right atrial appendage (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Fibrous skin tumor of tuberous sclerosis Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 23 Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Pontine autosomal dominant microangiopathy with leukoencephalopathy (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Erythrokeratodermia cardiomyopathy syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Familial patent arterial duct Is a True Cardiovascular system hereditary disorder Inferred relationship Some
FLNA-related X-linked myxomatous valvular dysplasia Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Leucoencephalopathy with calcifications and cysts Is a True Cardiovascular system hereditary disorder Inferred relationship Some
GNB5-related intellectual disability, cardiac arrhythmia syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
HtrA serine peptidase 1-related autosomal dominant cerebral small vessel disease (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Mucopolysaccharidosis-like plus disease Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Integral membrane protein 2B related amyloidosis (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Localised hereditary cardiac amyloidosis Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Maternally inherited mitochondrial cardiomyopathy (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Familial atrial tachyarrhythmia, infra-Hisian cardiac conduction disease Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Cathepsin A-related arteriopathy, strokes, leucoencephalopathy Is a True Cardiovascular system hereditary disorder Inferred relationship Some
QRSL1-related combined oxidative phosphorylation defect Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Eye defects, arachnodactyly, cardiopathy syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Familial cerebral saccular aneurysm (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Long QT syndrome type 11 (disorder) Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Long QT syndrome type 10 (disorder) Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Long QT syndrome type 3 (disorder) Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Long QT syndrome type 12 (disorder) Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Long QT syndrome type 13 (disorder) Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Long QT syndrome type 4 (disorder) Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Long QT syndrome type 5 (disorder) Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Long QT syndrome type 2 (disorder) Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Postural orthostatic tachycardia syndrome due to norepinephrine transporter deficiency Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some

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