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255399007: Congenital (qualifier value)

Status: current, Not 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
380598010 Congenital en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
380599019 Congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life false Inferred relationship Some
Congenital Is a Fetal and/or neonatal period true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Meningocele - cerebral Occurrence False Congenital Inferred relationship Some
Congenital bilateral perisylvian syndrome (disorder) Occurrence False Congenital Inferred relationship Some
Congenital hypofibrinogenemia (disorder) Occurrence True Congenital Inferred relationship Some 1
déformation causée par une bride amniotique Occurrence False Congenital Inferred relationship Some
Hereditary thrombophilic dysfibrinogenemia (disorder) Occurrence True Congenital Inferred relationship Some 2
Fibroblast growth factor receptor 3-related craniosynostosis (disorder) Occurrence False Congenital Inferred relationship Some
Constricting band of extremity (disorder) Occurrence False Congenital Inferred relationship Some
Congenital afibrinogenemia Occurrence True Congenital Inferred relationship Some 1
Deformity of toe due to amniotic band (disorder) Occurrence False Congenital Inferred relationship Some
Congenital deformity of scapula (disorder) Occurrence False Congenital Inferred relationship Some
Deformity of digit of hand due to amniotic band (disorder) Occurrence False Congenital Inferred relationship Some
Endemic congenital iodine deficiency syndrome of myxedematous type (disorder) Occurrence False Congenital Inferred relationship Some
Lenz microphthalmia syndrome (disorder) Occurrence False Congenital Inferred relationship Some
Congenital arthrogryposis due to Akabane virus Occurrence False Congenital Inferred relationship Some
A rare syndromic craniosynostosis with variable phenotypic expression characterized by craniosynostosis, intellectual disability, distinctive facies, abnormalities of the fingers and toes (brachydactyly, polydactyly and syndactyly), short stature, congenital heart disease, skeletal defects, obesity, genital abnormalities and umbilical hernia. Occurrence True Congenital Inferred relationship Some 3
Oto-onycho-peroneal syndrome Occurrence False Congenital Inferred relationship Some
Acrocephalosyndactyly Occurrence False Congenital Inferred relationship Some 3
Rhombencephalosynapsis Occurrence False Congenital Inferred relationship Some
Acrocephalopolysyndactyly type III (disorder) Occurrence True Congenital Inferred relationship Some 3
Delta phalanx of finger Occurrence False Congenital Inferred relationship Some
Acrocephalosyndactyly type I Occurrence False Congenital Inferred relationship Some
Acrocephalopolysyndactyly Occurrence True Congenital Inferred relationship Some 3
A rare group of genetic, cardiac rhythm diseases with characteristics of a prolongation of the QT interval at basal electrocardiography (ECG) and by a high risk of life-threatening arrhythmias. The two cardinal manifestations are syncopal episodes, which may lead to cardiac arrest and sudden cardiac death, and electrocardiographic abnormalities: prolongation of the QT interval and T wave abnormalities. Inheritance may be autosomal dominant or autosomal recessive and depends on the genes involved. Occurrence False Congenital Inferred relationship Some 1
Functional single ventricle (disorder) Occurrence False Congenital Inferred relationship Some
Deficiency of carnitine acetyltransferase Occurrence True Congenital Inferred relationship Some 1
Romano-Ward syndrome (disorder) Occurrence False Congenital Inferred relationship Some 1
Multiple congenital anomalies Occurrence False Congenital Inferred relationship Some
Congenital anomaly Occurrence False Congenital Inferred relationship Some
Aortic orifice anterior left with respect to pulmonary orifice (disorder) Occurrence False Congenital Inferred relationship Some
Deficiency of 2,4-dienoyl-CoA reductase Occurrence True Congenital Inferred relationship Some 1
Split spinal cord malformation (disorder) Occurrence True Congenital Inferred relationship Some 2
Aortic orifice anterior with respect to pulmonary orifice (disorder) Occurrence False Congenital Inferred relationship Some
Right atrioventricular valve leaflets absent in double inlet ventricle (unguarded orifice) (disorder) Occurrence False Congenital Inferred relationship Some
Infracardiac location of anomalous pulmonary venous connections to inferior caval vein (disorder) Occurrence False Congenital Inferred relationship Some
Intracardiac location of anomalous pulmonary venous connections to bilateral isomeric atriums (disorder) Occurrence False Congenital Inferred relationship Some
Atrioventricular septal defect with separate atrioventricular orifices (disorder) Occurrence False Congenital Inferred relationship Some
Apex of heart anterior to cardiac base (disorder) Occurrence False Congenital Inferred relationship Some
Infracardiac location of anomalous pulmonary venous connections to portal system (disorder) Occurrence False Congenital Inferred relationship Some
Aortic sinus of Valsalva aneurysm from noncoronary sinus (disorder) Occurrence False Congenital Inferred relationship Some
Polydactyly of thumb Occurrence False Congenital Inferred relationship Some
Aortic sinus of Valsalva aneurysm from left coronary sinus (disorder) Occurrence False Congenital Inferred relationship Some
Left ventricular outflow tract obstruction due to diaphragm (disorder) Occurrence False Congenital Inferred relationship Some
Spina bifida of sacral region (disorder) Occurrence False Congenital Inferred relationship Some 5
Nance-Horan syndrome (disorder) Occurrence False Congenital Inferred relationship Some
Congenital asymmetry of tonsils (disorder) Occurrence False Congenital Inferred relationship Some
Complex syndactyly of toes Occurrence False Congenital Inferred relationship Some
Left superior caval vein persisting to left sided atrium (disorder) Occurrence False Congenital Inferred relationship Some
Apex of heart posterior to cardiac base (disorder) Occurrence False Congenital Inferred relationship Some
Congenital pectus carinatum Occurrence False Congenital Inferred relationship Some
Aortic orifice posterior with respect to pulmonary orifice (disorder) Occurrence False Congenital Inferred relationship Some
Congenital scleral show (finding) Occurrence True Congenital Inferred relationship Some 1
Congenital aplasia of odontoid process (disorder) Occurrence False Congenital Inferred relationship Some
Meningomyelocele of lumbosacral spine (disorder) Occurrence False Congenital Inferred relationship Some
Bifid apex of heart (disorder) Occurrence False Congenital Inferred relationship Some
Congenital hemolytic uremic syndrome (disorder) Occurrence True Congenital Inferred relationship Some 7
Cleft of alveolar ridge (disorder) Occurrence False Congenital Inferred relationship Some
Congenital hypoplasia of left pulmonary artery (disorder) Occurrence False Congenital Inferred relationship Some
Congenital dilation of ascending aorta (disorder) Occurrence False Congenital Inferred relationship Some
Encephalocele of vertex (disorder) Occurrence False Congenital Inferred relationship Some
Occipital meningocele (disorder) Occurrence False Congenital Inferred relationship Some
Aortic sinus of Valsalva aneurysm from right coronary sinus (disorder) Occurrence False Congenital Inferred relationship Some
Congenital deformity of pharynx (disorder) Occurrence False Congenital Inferred relationship Some
Isolation of left subclavian artery (disorder) Occurrence False Congenital Inferred relationship Some
Complex syndactyly of fingers Occurrence False Congenital Inferred relationship Some
Isolation of right subclavian artery (disorder) Occurrence False Congenital Inferred relationship Some
Left ventricular outflow tract obstruction due to malaligned outlet septum (disorder) Occurrence False Congenital Inferred relationship Some
Left superior caval vein persisting to coronary sinus (disorder) Occurrence False Congenital Inferred relationship Some
Atrioventricular septal defect with common atrioventricular orifice (disorder) Occurrence False Congenital Inferred relationship Some
Symbrachydactyly of toe (disorder) Occurrence False Congenital Inferred relationship Some
Left ventricular outflow tract obstruction due to fibromuscular tunnel (disorder) Occurrence False Congenital Inferred relationship Some
Left ventricular outflow tract obstruction due to subpulmonary fibromuscular shelf (disorder) Occurrence False Congenital Inferred relationship Some
Atrioventricular septal defect with ventricular imbalance consisting of dominant left ventricle and hypoplastic right ventricle (disorder) Occurrence False Congenital Inferred relationship Some
Left ventricular outflow tract obstruction due to aneurysm of membranous septum (disorder) Occurrence False Congenital Inferred relationship Some
Atrioventricular septal defect with ventricular imbalance consisting of dominant right ventricle and hypoplastic left ventricle (disorder) Occurrence False Congenital Inferred relationship Some
Congenital neurogenic urinary bladder (finding) Occurrence True Congenital Inferred relationship Some 1
Left ventricular outflow tract obstruction due to anterolateral muscle band (disorder) Occurrence False Congenital Inferred relationship Some
Congenital hypoplasia of right pulmonary artery (disorder) Occurrence False Congenital Inferred relationship Some
Glycogen storage disease type Ia (disorder) Occurrence True Congenital Inferred relationship Some 1
Left ventricular outflow tract obstruction due to atrioventricular valve (disorder) Occurrence False Congenital Inferred relationship Some
Congenital dilation of left pulmonary artery (disorder) Occurrence False Congenital Inferred relationship Some
Congenital dilation of right pulmonary artery (disorder) Occurrence False Congenital Inferred relationship Some
Aortic orifice anterior right with respect to pulmonary orifice (disorder) Occurrence False Congenital Inferred relationship Some
Common atrioventricular orifice in double inlet ventricle (disorder) Occurrence False Congenital Inferred relationship Some
Aortic orifice posterior left with respect to pulmonary orifice (disorder) Occurrence False Congenital Inferred relationship Some
Lungs in mirror image arrangement (disorder) Occurrence False Congenital Inferred relationship Some
Aortic orifice left side by side with respect to pulmonary orifice (disorder) Occurrence False Congenital Inferred relationship Some
Atrioventricular septal defect with additional muscular ventricular septal defect (disorder) Occurrence False Congenital Inferred relationship Some
Congenital malformation of blood vessel of orbit proper (disorder) Occurrence False Congenital Inferred relationship Some
Median raphe cyst of penis (disorder) Occurrence False Congenital Inferred relationship Some
Abnormal atrial arrangement (disorder) Occurrence False Congenital Inferred relationship Some
Obstructed pulmonary venous connection at coronary sinus orifice (disorder) Occurrence False Congenital Inferred relationship Some 2
Mirror image bronchial anatomy (disorder) Occurrence False Congenital Inferred relationship Some
Solitary ventricle of indeterminate morphology (disorder) Occurrence False Congenital Inferred relationship Some
Criss-cross heart with leftward rotation (disorder) Occurrence False Congenital Inferred relationship Some
Functionally congenital single lung (disorder) Occurrence False Congenital Inferred relationship Some
Criss-cross heart with rightward rotation (disorder) Occurrence False Congenital Inferred relationship Some
Alveolar capillary dysplasia with pulmonary venous misalignment (disorder) Occurrence False Congenital Inferred relationship Some
Aortic orifice right side by side with respect to pulmonary orifice (disorder) Occurrence False Congenital Inferred relationship Some
Two atrioventricular valves in double inlet ventricle (disorder) Occurrence False Congenital Inferred relationship Some
Premature restriction of foramen ovale (disorder) Occurrence False Congenital Inferred relationship Some
Double outlet right ventricle with intact ventricular septum (disorder) Occurrence False Congenital Inferred relationship Some

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