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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
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome 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 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 Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 17 Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Hyperuricaemia, pulmonary hypertension, renal failure, alkalosis syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
COL4A1-related familial vascular leucoencephalopathy Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Familial cervical artery dissection Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Lethal arteriopathy syndrome due to fibulin-4 deficiency Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Multisystemic smooth muscle dysfunction syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
ABri amyloidosis 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 Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Aneurysm osteoarthritis syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness 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
Cardiac glycogen phosphorylase kinase deficiency Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Neonatal purpura fulminans due to homozygous protein C deficiency Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Brugada syndrome 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 haemangioma of brain 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
Congenital 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 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 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 Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Fibrous skin tumour of tuberous sclerosis Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome 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 leucoencephalopathy Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Intermediate epidermolysis bullosa simplex with cardiomyopathy Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Erythrokeratodermia cardiomyopathy syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
BVES-related limb girdle muscular dystrophy 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 Is a True Cardiovascular system hereditary disorder Inferred relationship Some
HTRA1-related autosomal dominant cerebral small vessel disease Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Mucopolysaccharidosis-like plus disease Is a True Cardiovascular system hereditary disorder Inferred relationship Some
ITM2B-related amyloidosis 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 Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Maternally inherited mitochondrial cardiomyopathy Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Macrocephaly, intellectual disability, left ventricular non compaction syndrome 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 Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Long QT syndrome type 11 Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Long QT syndrome type 10 Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Long QT syndrome type 3 Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Long QT syndrome type 12 Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Long QT syndrome type 13 Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Long QT syndrome type 4 Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Long QT syndrome type 5 Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Long QT syndrome type 2 Is a True 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
TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Lethal brain and heart developmental defects syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Short stature, developmental delay, congenital heart defect syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Congenital vertebral, cardiac, renal anomalies syndrome Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Jervell and Lange-Nielsen syndrome Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Sturge-Weber syndrome Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Pericarditis due to familial Mediterranean fever Is a False Cardiovascular system hereditary disorder Inferred relationship Some
Gouty tophus of heart 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
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 cutaneous vascular syndrome Is a True 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 secondary to glycogen storage disease 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
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
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
Andersen Tawil syndrome 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 Is a True Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary dysplasia of blood vessel 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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