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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

197 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Cardiovascular system hereditary disorder est un(e) (attribut) Hereditary disorder by system true Inferred relationship Some
Cardiovascular system hereditary disorder est un(e) (attribut) Disorder of cardiovascular system (disorder) true Inferred relationship Some
Cardiovascular system hereditary disorder localisation d'une constatation (attribut) Structure of cardiovascular system (body structure) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Heritable pulmonary arterial hypertension due to BMPR2 mutation est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Ohdo syndrome, Maat-Kievit-Brunner type est un(e) (attribut) False Cardiovascular system hereditary disorder Inferred relationship Some
Upshaw-Schulman syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Port-wine stain in Rubinstein-Taybi syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Dilated cardiomyopathy 3B (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
syndrome autosomique dominant d'hématurie, tortuosités rétiniennes, crampes musculaires est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Arrhythmogenic right ventricular dysplasia (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary cystatin C amyloid angiopathy (disorder) est un(e) (attribut) False Cardiovascular system hereditary disorder Inferred relationship Some
Microcephaly-capillary malformation syndrome est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Capillary malformation-arteriovenous malformation syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Dilated cardiomyopathy due to phytanic acid storage disease est un(e) (attribut) False Cardiovascular system hereditary disorder Inferred relationship Some
Becker muscular dystrophy est un(e) (attribut) False Cardiovascular system hereditary disorder Inferred relationship Some
STING-associated vasculopathy with onset in infancy (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
malformation glomuveineuse est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Transthyretin related familial amyloid cardiomyopathy (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Short stature with valvular heart disease and characteristic facies syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Isolated right ventricular hypoplasia (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Sonoda syndrome est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Moyamoya disease with early onset achalasia (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
syndrome héréditaire de calcification artérielle et articulaire est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Microcephalus cardiomyopathy syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Lethal faciocardiomelic dysplasia (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Vici syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Naxos disease est un(e) (attribut) False Cardiovascular system hereditary disorder Inferred relationship Some
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Tubular renal disease with cardiomyopathy syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Timothy syndrome type 1 (disorder) est un(e) (attribut) False Cardiovascular system hereditary disorder Inferred relationship Some
Timothy syndrome type 2 (disorder) est un(e) (attribut) False Cardiovascular system hereditary disorder Inferred relationship Some
Cardiac anomaly and heterotaxy syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Cardiocranial syndrome Pfeiffer type (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Cardiomyopathy and renal anomaly syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Cardiospondylocarpofacial syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
syndrome d'athérosclérose, surdité, épilepsie, diabète, néphropathie est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Bosley Salih Alorainy syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Brachydactyly and arterial hypertension syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Braddock syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Arterial dissection and lentiginosis syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Cerebroretinal vasculopathy (disorder) est un(e) (attribut) False Cardiovascular system hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome cardiac valvular type (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome vascular-like type (disorder) est un(e) (attribut) False Cardiovascular system hereditary disorder Inferred relationship Some
syndrome de Holt-Oram est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Heart defect and limb shortening syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Heart-hand syndrome Slovenian type (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Short stature with webbed neck and congenital heart disease syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
syndrome léthal d'hydrocéphalie, malformation cardiaque, hyperdensité osseuse est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary vascular retinopathy (disorder) est un(e) (attribut) False Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary endotheliopathy, retinopathy, nephropathy, stroke syndrome (disorder) est un(e) (attribut) False Cardiovascular system hereditary disorder Inferred relationship Some
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Lymphedema, atrial septal defect, facial changes syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Lymphedema and cerebral arteriovenous anomaly syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Chronic atrial and intestinal dysrhythmia (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Isotretinoin embryopathy-like syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Kallman syndrome with heart disease (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Faciocardiorenal syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
syndrome de tétralogie de Fallot-petite taille-déficience intellectuelle est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
syndrome de la maladie cardiaque polyvalvulaire est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Sensorineural deafness with dilated cardiomyopathy syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary cerebral hemorrhage with amyloidosis (disorder) est un(e) (attribut) False Cardiovascular system hereditary disorder Inferred relationship Some
Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Keutel syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Muscle and heart glycogen synthase deficiency (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Polysyndactyly and cardiac malformation syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Atrial septal defect, atrioventricular conduction defect syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
syndrome d'ataxie cérébelleuse, déficience intellectuelle, atrophie optique, anomalies cutanées est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Carney complex (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Long thumb brachydactyly syndrome est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Disorder of cardiovascular system co-occurrent and due to Marfan syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
syndrome de mèches blanches et anomalies multiples est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
syndrome de Marfan néonatal est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Primary intraosseous venous malformation (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Ankyrin-B syndrome est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Familial thoracic aortic aneurysm and aortic dissection est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Hypertension due to gain-of-function mutation in mineralocorticoid receptor (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Familial bicuspid aortic valve (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some

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