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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

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
Dilated cardiomyopathy due to phytanic acid storage disease Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Becker muscular dystrophy Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Cardiac glycogen phosphorylase kinase deficiency Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Sturge-Weber syndrome Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Gouty tophus of heart Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Familial cardiomyopathy Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary oculoleptomeningeal amyloid angiopathy Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary cerebral amyloid angiopathy, Icelandic type Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary cerebral amyloid angiopathy, Dutch type Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Dilated cardiomyopathy due to glycogen storage disease (disorder) Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Restrictive cardiomyopathy secondary to glycogen storage disease Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary coproporphyria Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Restrictive cardiomyopathy due to mucopolysaccharidosis Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Dilated cardiomyopathy due to mucopolysaccharidosis Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Jervell and Lange-Nielsen syndrome Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Pericarditis due to familial Mediterranean fever (disorder) Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Jervell and Lange-Nielson syndrome Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary cutaneous vascular syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Ataxia-telangiectasia syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Familial hemiplegic migraine Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Danon disease Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Andersen Tawil syndrome (disorder) Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Sturge-Weber syndrome Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Fatal congenital nonlysosomal heart glycogenosis (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary dysplasia of blood vessel (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Pulmonary hypertension in neurofibromatosis (disorder) Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Heritable pulmonary arterial hypertension due to BMPR2 mutation Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Ohdo syndrome, Maat-Kievit-Brunner type Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Upshaw-Schulman syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Port-wine stain in Rubinstein-Taybi syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Dilated cardiomyopathy 3B (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Arrhythmogenic right ventricular dysplasia (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary cystatin C amyloid angiopathy Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Microcephaly-capillary malformation syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Capillary malformation-arteriovenous malformation syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
STING-associated vasculopathy with onset in infancy (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Glomuvenous malformation (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Transthyretin related familial amyloid cardiomyopathy (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Short stature with valvular heart disease and characteristic facies syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Isolated right ventricular hypoplasia (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Sonoda syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Moyamoya disease with early onset achalasia (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary arterial and articular multiple calcification syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Microcephalus cardiomyopathy syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Lethal faciocardiomelic dysplasia (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Vici syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Naxos disease Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Tubular renal disease with cardiomyopathy syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Timothy syndrome type 1 (disorder) Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Timothy syndrome type 2 (disorder) Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Cardiac anomaly and heterotaxy syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Cardiocranial syndrome Pfeiffer type (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Cardiomyopathy and renal anomaly syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Cardiospondylocarpofacial syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Bosley Salih Alorainy syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Brachydactyly and arterial hypertension syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Braddock syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Arterial dissection and lentiginosis syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Cerebroretinal vasculopathy Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome cardiac valvular type (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome vascular-like type Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Holt-Oram syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Heart defect and limb shortening syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Heart-hand syndrome Slovenian type (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Short stature with webbed neck and congenital heart disease syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary vascular retinopathy Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary endotheliopathy, retinopathy, nephropathy, stroke syndrome Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Lymphedema, atrial septal defect, facial changes syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Lymphedema and cerebral arteriovenous anomaly syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Chronic atrial and intestinal dysrhythmia (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Isotretinoin embryopathy-like syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Kallman syndrome with heart disease (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Faciocardiorenal syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Fallot complex with intellectual disability and growth delay syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Polyvalvular heart disease syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Sensorineural deafness with dilated cardiomyopathy syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary cerebral hemorrhage with amyloidosis (disorder) Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) Is a True Cardiovascular system hereditary disorder Inferred relationship Some

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