363005004: Cardiovascular system hereditary disorder (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary 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
633871000052111 ärftlig sjukdom i hjärt-kärlsystemet sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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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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
633871000052111	ärftlig sjukdom i hjärt-kärlsystemet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)