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255399007: Congenital (qualifier value)

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

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym Active Case insensitive SNOMED CT core
380599019 Congenita en Synonym Active Case insensitive SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Case insensitive SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
16p12.2 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 2
16p12.2 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
5q31.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 2
5q31.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
5q31.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 3
X-linked acrogigantism Occurrence False Congenital Inferred relationship Some 2
X-linked acrogigantism Occurrence False Congenital Inferred relationship Some 1
15q13.3 microduplication syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital secondary hydronephrosis Occurrence True Congenital Inferred relationship Some 1
Primary tethered cord syndrome Occurrence True Congenital Inferred relationship Some 2
Primary tethered cord syndrome Occurrence True Congenital Inferred relationship Some 1
Primary tethered cord syndrome Occurrence True Congenital Inferred relationship Some 3
Primary tethered cord syndrome Occurrence True Congenital Inferred relationship Some 4
Coloboma of retina Occurrence True Congenital Inferred relationship Some 1
Tall stature, intellectual disability, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 1
N-glycanase 1 congenital disorder of deglycosylation Occurrence True Congenital Inferred relationship Some 1
Trisomy 1q syndrome Occurrence True Congenital Inferred relationship Some 1
Trisomy 1q syndrome Occurrence True Congenital Inferred relationship Some 2
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease Occurrence True Congenital Inferred relationship Some 5
Trisomy 8p syndrome Occurrence True Congenital Inferred relationship Some 2
Trisomy 8p syndrome Occurrence True Congenital Inferred relationship Some 1
Partial trisomy of short arm of chromosome 8 Occurrence True Congenital Inferred relationship Some 2
Partial trisomy of short arm of chromosome 8 Occurrence True Congenital Inferred relationship Some 1
Partial trisomy of long arm of chromosome 1 Occurrence True Congenital Inferred relationship Some 2
Partial trisomy of long arm of chromosome 1 Occurrence True Congenital Inferred relationship Some 1
Coloboma of choroid and retina Occurrence True Congenital Inferred relationship Some 1
Coloboma of choroid and retina Occurrence True Congenital Inferred relationship Some 2
Multiple epiphyseal dysplasia Lowry type Occurrence True Congenital Inferred relationship Some 1
8p23.1 duplication syndrome Occurrence True Congenital Inferred relationship Some 2
Monocuspid cardiac valve Occurrence True Congenital Inferred relationship Some 1
Quadricuspid cardiac valve Occurrence True Congenital Inferred relationship Some 1
Vaso-occlusive pain co-occurrent and due to sickle cell disease Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect - isolated atrial component Occurrence True Congenital Inferred relationship Some 2
Atrioventricular septal defect - isolated atrial component Occurrence True Congenital Inferred relationship Some 1
Anomalous origin of single coronary artery from nonfacing aortic sinus Occurrence True Congenital Inferred relationship Some 2
Anomalous origin of single coronary artery from aortic sinus to left of nonfacing aortic sinus Occurrence False Congenital Inferred relationship Some 2
Anomalous origin of single coronary artery from aortic sinus to right of nonfacing aortic sinus Occurrence False Congenital Inferred relationship Some 2
Perimembranous ventricular septal defect Occurrence True Congenital Inferred relationship Some 1
Ventricular septal defect with absent outlet septum and overriding truncal valve with inferior muscular rim Occurrence True Congenital Inferred relationship Some 2
Ventricular septal defect with absent outlet septum and overriding truncal valve with inferior muscular rim Occurrence True Congenital Inferred relationship Some 1
Multiple muscular ventricular septum defect Occurrence True Congenital Inferred relationship Some 1
Confluent muscular ventricular septal defect Occurrence True Congenital Inferred relationship Some 1
Ventricular septal defect with posterior malaligned outlet septum with overriding pulmonary valve Occurrence True Congenital Inferred relationship Some 3
Anomalous origin of coronary artery from aortic sinus to right of nonfacing aortic sinus Occurrence False Congenital Inferred relationship Some 2
Ventricular septal defect with absent outlet septum and overriding truncal valve with extension of membranous septum Occurrence True Congenital Inferred relationship Some 2
Ventricular septal defect with absent outlet septum and overriding truncal valve with extension of membranous septum Occurrence True Congenital Inferred relationship Some 1
Muscular ventricular septum defect Occurrence True Congenital Inferred relationship Some 1
L - transposition of the great vessels Occurrence True Congenital Inferred relationship Some 1
Ventricular septal defect with anterior malaligned outlet septum with overriding pulmonary valve Occurrence True Congenital Inferred relationship Some 3
Ventricular septal defect with posterior malaligned outlet septum with overriding aortic valve Occurrence True Congenital Inferred relationship Some 3
Single muscular ventricular septum defect Occurrence True Congenital Inferred relationship Some 1
Cor triloculare Occurrence True Congenital Inferred relationship Some 1
Double outlet right ventricle with subpulmonary ventricular septal defect Occurrence True Congenital Inferred relationship Some 1
Two atrioventricular valves in double inlet ventricle Occurrence False Congenital Inferred relationship Some 1
Common arterial trunk with pulmonary dominance co-occurrent with interrupted aortic arch Occurrence True Congenital Inferred relationship Some 1
Common atrioventricular canal Occurrence True Congenital Inferred relationship Some 1
Common atrioventricular canal Occurrence True Congenital Inferred relationship Some 2
Ventricular septal defect with malaligned outlet septum Occurrence True Congenital Inferred relationship Some 2
Right sided atrium connecting to right ventricle Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect with additional muscular ventricular septal defect Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect with additional muscular ventricular septal defect Occurrence True Congenital Inferred relationship Some 2
Right sided atrium connecting to both ventricles Occurrence True Congenital Inferred relationship Some 1
Non-restrictive ventricular septal defect Occurrence True Congenital Inferred relationship Some 1
Endocardial cushion defect Occurrence True Congenital Inferred relationship Some 1
Ventricular septal defect with malaligned outlet septum to right Occurrence True Congenital Inferred relationship Some 2
Congenital ventricular septal defect Occurrence True Congenital Inferred relationship Some 1
Anomalous origin of coronary artery from aortic sinus to left of nonfacing aortic sinus Occurrence False Congenital Inferred relationship Some 2
Ventricular septal defect with anterior malaligned outlet septum with overriding aortic valve Occurrence True Congenital Inferred relationship Some 3
Ventricular septal defect with malaligned outlet septum to left Occurrence True Congenital Inferred relationship Some 2
Atrial septal defect with endocardial cushion defect, partial type Occurrence False Congenital Inferred relationship Some 3
Ventricular septal defect with absent outlet septum and overriding truncal valve Occurrence True Congenital Inferred relationship Some 3
Ventricular septal defect with absent outlet septum and overriding truncal valve Occurrence True Congenital Inferred relationship Some 1
Anomalous origin of circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending coronary artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus Occurrence True Congenital Inferred relationship Some 3
D - transposition of the great vessels Occurrence True Congenital Inferred relationship Some 1
Muscular ventricular septal defect in marginal septum Occurrence True Congenital Inferred relationship Some 1
Anomalous origin of left anterior descending artery and right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery from aortic sinus to left of nonfacing aortic sinus Occurrence True Congenital Inferred relationship Some 2
Ventricular septal defect with posterior malaligned outlet septum with overriding pulmonary valve Occurrence True Congenital Inferred relationship Some 2
Ventricular septal defect with anterior malaligned outlet septum with overriding pulmonary valve Occurrence True Congenital Inferred relationship Some 2
Ventricular septal defect with posterior malaligned outlet septum with overriding aortic valve Occurrence True Congenital Inferred relationship Some 2
Ventricular septal defect with malaligned outlet septum to right Occurrence True Congenital Inferred relationship Some 1
Ventricular septal defect with anterior malaligned outlet septum with overriding aortic valve Occurrence True Congenital Inferred relationship Some 2
Ventricular septal defect with malaligned outlet septum to left Occurrence True Congenital Inferred relationship Some 1
Ventricular septal defect with absent outlet septum and overriding truncal valve Occurrence True Congenital Inferred relationship Some 2
Ventricular septal defect with absent outlet septum and overriding truncal valve with inferior muscular rim Occurrence True Congenital Inferred relationship Some 3
Ventricular septal defect with absent outlet septum and overriding truncal valve with extension of membranous septum Occurrence True Congenital Inferred relationship Some 3
Anomalous origin of left anterior descending artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus Occurrence True Congenital Inferred relationship Some 3
Congenital syphilitic gumma Occurrence False Congenital Inferred relationship Some
Late congenital syphilitic oculopathy Occurrence False Congenital Inferred relationship Some
Ventricular septal defect with malaligned outlet septum Occurrence True Congenital Inferred relationship Some 1
Common arterial trunk with pulmonary dominance co-occurrent with interrupted aortic arch Occurrence True Congenital Inferred relationship Some 2
Common arterial trunk with pulmonary origin from truncal valve sinus Occurrence True Congenital Inferred relationship Some 1
Common arterial trunk with obstruction of aortic arch Occurrence True Congenital Inferred relationship Some 2
Common arterial trunk with isolated pulmonary artery Occurrence True Congenital Inferred relationship Some 1
Common arterial trunk with crossed over pulmonary arteries Occurrence True Congenital Inferred relationship Some 1
Truncus arteriosus, Edwards' type IV Occurrence True Congenital Inferred relationship Some 1
Common arterial trunk and widely separate origin of pulmonary arteries Occurrence True Congenital Inferred relationship Some 1
Common arterial trunk and common origin of pulmonary arteries Occurrence True Congenital Inferred relationship Some 1
Common arterial trunk with pulmonary arteries arising from trunk and unobstructed aortic arch Occurrence True Congenital Inferred relationship Some 1
Common arterial trunk and separate origin of pulmonary arteries Occurrence True Congenital Inferred relationship Some 1
Disorders of amino acid transport and metabolism Occurrence False Congenital Inferred relationship Some
Cystinaemia Occurrence False Congenital Inferred relationship Some

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Reference Sets

Qualifier value foundation reference set

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