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363005004: Cardiovascular system hereditary disorder (disorder)


Status: current, Defined. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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


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 Some
Cardiovascular system hereditary disorder Is a Cardiovascular disease true Inferred relationship Some
Cardiovascular system hereditary disorder Finding site Structure of cardiovascular system true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Hereditary dysplasia of blood vessel Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Pulmonary hypertension in neurofibromatosis 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
Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Upshaw-Schulman syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Port-wine stain in Rubinstein-Taybi syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Dilated cardiomyopathy 3B 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 Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy 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
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
STING-associated vasculopathy with onset in infancy Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Glomuvenous malformation Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Transthyretin related familial amyloid cardiomyopathy Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Short stature with valvular heart disease and characteristic facies syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Thomas syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Isolated right ventricular hypoplasia Is a True Cardiovascular system hereditary disorder Inferred relationship Some
TMEM70 related mitochondrial encephalo-cardio-myopathy 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 Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary arterial and articular multiple calcification syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Microcephaly with cardiac defect and lung malsegmentation syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Microcephaly cardiomyopathy syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Lethal faciocardiomelic dysplasia Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Vici syndrome 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 Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Timothy syndrome type 1 Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Timothy syndrome type 2 Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Cardiac anomaly and heterotaxy syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Cardiocranial syndrome Pfeiffer type Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Cardiomyopathy with cataract and hip spine disease syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Cardiomyopathy and renal anomaly syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Cardiospondylocarpofacial syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Bosley Salih Alorainy syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Brachydactyly and arterial hypertension syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Braddock syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
CHIME syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Arterial dissection and lentiginosis syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Cooper Jabs syndrome 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 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 Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Heart-hand syndrome Slovenian type Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Short stature with webbed neck and congenital heart disease syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Beemer Ertbruggen syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary vascular retinopathy Is a False Cardiovascular system hereditary disorder Inferred relationship Some
HERNS syndrome Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Lung agenesis with heart defect and thumb anomaly syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Lymphoedema, atrial septal defect, facial changes syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Lymphoedema and cerebral arteriovenous anomaly syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Chronic atrial and intestinal dysrhythmia Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Isotretinoin-like syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Kallman syndrome with heart disease Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Faciocardiorenal syndrome 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, lymphoedema, telangiectasia, renal defect syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Polyvalvular heart disease syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Sensorineural deafness with dilated cardiomyopathy syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Retinal ischaemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary cerebral haemorrhage with amyloidosis Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Hepatic veno-occlusive disease with immunodeficiency syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Maternally inherited cardiomyopathy and hearing loss syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Keutel syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Glycogen storage disease due to muscle and heart glycogen synthase deficiency Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Polysyndactyly and cardiac malformation syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Atrial septal defect, atrioventricular conduction defect syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
CAMOS syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Carney complex 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 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 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 naevus syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Primary intraosseous venous malformation 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 Is a True Cardiovascular system hereditary disorder Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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