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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
Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
LMNA-related cardiocutaneous progeria syndrome est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Genitopalatocardiac syndrome est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Polyglucosan body myopathy type 1 (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 17 (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
syndrome d'hyperuricémie, hypertension artérielle pulmonaire, insuffisance rénale, alcalose est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Familial cervical artery dissection (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Multisystemic smooth muscle dysfunction syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Familial dementia British type (disorder) est un(e) (attribut) False Cardiovascular system hereditary disorder Inferred relationship Some
Subaortic stenosis and short stature syndrome est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary diffuse endocapillary proliferative glomerulonephritis (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Aneurysm osteoarthritis syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
syndrome de prune belly avec sténose pulmonaire, arriération mentale et surdité est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Fabry's disease est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary benign telangiectasia est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Cardiac glycogen phosphorylase kinase deficiency est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Neonatal purpura fulminans (homozygous protein C deficiency) (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Brugada syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Maternally inherited mitochondrial cardiomyopathy and myopathy est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary cavernous hemangioma of brain (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary cerebrovascular amyloidosis est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
syndrome de Kartagener est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary vascular fragility est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Congenital long QT syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
macrocéphalie, malformation capillaire est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Familial pulmonary capillary haemangiomatosis est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Port-wine stain in proteus syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Cardiac glycogenosis est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Autosomal recessive sick sinus syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Isomerism of right atrial appendage (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Fibrous skin tumour of tuberous sclerosis est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 23 est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Pontine autosomal dominant microangiopathy with leukoencephalopathy (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Erythrokeratodermia cardiomyopathy syndrome est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Familial patent arterial duct est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
FLNA-related X-linked myxomatous valvular dysplasia est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Leucoencephalopathy with calcifications and cysts est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
GNB5-related intellectual disability, cardiac arrhythmia syndrome est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
HtrA serine peptidase 1-related autosomal dominant cerebral small vessel disease (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Mucopolysaccharidosis-like plus disease est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Integral membrane protein 2B related amyloidosis (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Localised hereditary cardiac amyloidosis est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Maternally inherited mitochondrial cardiomyopathy (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Familial atrial tachyarrhythmia, infra-Hisian cardiac conduction disease est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Cathepsin A-related arteriopathy, strokes, leucoencephalopathy est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
QRSL1-related combined oxidative phosphorylation defect est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Eye defects, arachnodactyly, cardiopathy syndrome est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Familial cerebral saccular aneurysm (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Long QT syndrome type 11 (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Long QT syndrome type 10 (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Long QT syndrome type 3 (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Long QT syndrome type 12 (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Long QT syndrome type 13 (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Long QT syndrome type 4 (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Long QT syndrome type 5 (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Long QT syndrome type 2 (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Postural orthostatic tachycardia syndrome due to norepinephrine transporter deficiency est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Lethal brain and heart developmental defects syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Jervell and Lange-Nielsen syndrome est un(e) (attribut) False Cardiovascular system hereditary disorder Inferred relationship Some
Sturge-Weber syndrome (disorder) est un(e) (attribut) False Cardiovascular system hereditary disorder Inferred relationship Some
Pericarditis due to familial Mediterranean fever (disorder) est un(e) (attribut) False Cardiovascular system hereditary disorder Inferred relationship Some
tophus goutteux du cœur est un(e) (attribut) False Cardiovascular system hereditary disorder Inferred relationship Some
Jervell and Lange-Nielson syndrome (finding) est un(e) (attribut) False Cardiovascular system hereditary disorder Inferred relationship Some
Familial cardiomyopathy est un(e) (attribut) False Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary oculoleptomeningeal amyloid angiopathy est un(e) (attribut) False Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary cerebral amyloid angiopathy, Icelandic type est un(e) (attribut) False Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary cutaneous vascular syndrome (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary cerebral amyloid angiopathy, Dutch type (disorder) est un(e) (attribut) False Cardiovascular system hereditary disorder Inferred relationship Some
Dilated cardiomyopathy due to glycogen storage disease (disorder) est un(e) (attribut) False Cardiovascular system hereditary disorder Inferred relationship Some
Restrictive cardiomyopathy secondary to glycogen storage disease est un(e) (attribut) False Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary coproporphyria est un(e) (attribut) False Cardiovascular system hereditary disorder Inferred relationship Some
Ataxia-telangiectasia syndrome est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Familial hemiplegic migraine est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
maladie de Danon est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Restrictive cardiomyopathy due to mucopolysaccharidosis est un(e) (attribut) False Cardiovascular system hereditary disorder Inferred relationship Some
Dilated cardiomyopathy due to mucopolysaccharidosis est un(e) (attribut) False Cardiovascular system hereditary disorder Inferred relationship Some
Andersen Tawil syndrome (disorder) est un(e) (attribut) False Cardiovascular system hereditary disorder Inferred relationship Some
Sturge-Weber syndrome (disorder) est un(e) (attribut) False Cardiovascular system hereditary disorder Inferred relationship Some
Fatal congenital nonlysosomal heart glycogenosis (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Hereditary dysplasia of blood vessel (disorder) est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some
Pulmonary hypertension in neurofibromatosis (disorder) est un(e) (attribut) False Cardiovascular system hereditary disorder Inferred relationship Some
Heritable pulmonary arterial hypertension due to BMPR2 mutation est un(e) (attribut) True Cardiovascular system hereditary disorder Inferred relationship Some

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