FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
Congenital zonular cataract of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital hydrosalpinx Occurrence True Congenital Inferred relationship Some 1
Congenital hydrosalpinx Occurrence True Congenital Inferred relationship Some 2
Congenital anomaly of cauda equina Occurrence True Congenital Inferred relationship Some 1
Congenital cortical cataract of right eye (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital cortical cataract of left eye (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital cortical cataract of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital cortical cataract of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital blepharophimosis of bilateral eyelids (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital exotropia of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital exotropia of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital glaucoma of right eye (disorder) Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect, atrial and ventricular components with common atrioventricular valve with unbalanced commitment of valve to right ventricle Occurrence True Congenital Inferred relationship Some 2
Atrioventricular septal defect, atrial and ventricular components with common atrioventricular valve with unbalanced commitment of valve to left ventricle (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital coloboma of right lens (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital coloboma of left lens (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital coloboma of right eyelid (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital coloboma of bilateral optic discs (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital coloboma of bilateral optic discs (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital coloboma of left optic disc Occurrence True Congenital Inferred relationship Some 1
Congenital coloboma of right optic disc (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital coloboma of left eyelid (disorder) Occurrence True Congenital Inferred relationship Some 1
Glycogen storage disease due to muscle pyruvate kinase deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Erythropoietic protoporphyria due to ferrochelatase deficiency (disorder) Occurrence True Congenital Inferred relationship Some 2
Glycogen storage disease type IXB (disorder) Occurrence True Congenital Inferred relationship Some 1
Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant. Occurrence False Congenital Inferred relationship Some 4
A rare, genetic, premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, hypertriglyceridemia and diabetes mellitus/insulin resistance. Occurrence False Congenital Inferred relationship Some 5
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate, and simple, dysplastic pinnae with preauricular pits/tags. Occurrence False Congenital Inferred relationship Some 4
Congenital blepharophimosis of bilateral eyelids (disorder) Occurrence True Congenital Inferred relationship Some 2
Hypoplasia of cranial sinus (disorder) Occurrence True Congenital Inferred relationship Some 1
Middle interhemispheric variant of holoprosencephaly (disorder) Occurrence True Congenital Inferred relationship Some 1
Middle interhemispheric variant of holoprosencephaly (disorder) Occurrence True Congenital Inferred relationship Some 2
Holocarboxylase synthase deficiency Occurrence True Congenital Inferred relationship Some 1
Microcornea of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 1
Microcornea of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 2
Megalocornea of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 1
Megalocornea of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 2
Left hand pattern ventricular topology (disorder) Occurrence True Congenital Inferred relationship Some 1
Persistent hyperplastic primary vitreous of right eye Occurrence True Congenital Inferred relationship Some 1
Persistent hyperplastic primary vitreous of left eye (disorder) Occurrence True Congenital Inferred relationship Some 1
Bilateral microphthalmos Occurrence True Congenital Inferred relationship Some 1
Bilateral microphthalmos Occurrence True Congenital Inferred relationship Some 2
Congenital distichiasis of left eyelid Occurrence True Congenital Inferred relationship Some 1
Congenital distichiasis of left eyelid Occurrence True Congenital Inferred relationship Some 2
Congenital distichiasis of right eyelid (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital distichiasis of right eyelid (disorder) Occurrence True Congenital Inferred relationship Some 2
Obstructed anomalous pulmonary venous pathway (disorder) Occurrence True Congenital Inferred relationship Some 1
Obstructed anomalous pulmonary venous pathway (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital choroidal fold Occurrence True Congenital Inferred relationship Some 1
Megalencephaly capillary malformation Occurrence True Congenital Inferred relationship Some 1
Megalencephaly capillary malformation Occurrence True Congenital Inferred relationship Some 2
Megalencephaly capillary malformation Occurrence True Congenital Inferred relationship Some 3
Perimembranous inlet ventricular septal defect with atrioventricular septal malalignment (disorder) Occurrence True Congenital Inferred relationship Some 1
Inferior muscular trabecular ventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of left-sided atrioventricular valve in double inlet ventricle (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of right-sided atrioventricular valve in double inlet ventricle Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of right-sided atrioventricular valve in double inlet ventricle Occurrence True Congenital Inferred relationship Some 2
Congenital anomaly of right-sided atrioventricular valve in double inlet ventricle Occurrence True Congenital Inferred relationship Some 3
Innominate artery compression syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Innominate artery compression syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital stenosis of truncal valve Occurrence True Congenital Inferred relationship Some 1
Congenital dysplasia of aortic valve (disorder) Occurrence True Congenital Inferred relationship Some 1
Residual patency of arterial duct following patent ductus arteriosus repair Occurrence True Congenital Inferred relationship Some 1
Encephalomyelocele Occurrence True Congenital Inferred relationship Some 3
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported. Occurrence True Congenital Inferred relationship Some 5
Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. Occurrence True Congenital Inferred relationship Some 5
Outlet ventricular septal defect with posteriorly malaligned outlet septum Occurrence True Congenital Inferred relationship Some 1
Outlet ventricular septal defect with posteriorly malaligned outlet septum Occurrence True Congenital Inferred relationship Some 2
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect and pulmonary stenosis Fallot type (disorder) Occurrence True Congenital Inferred relationship Some 1
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect and pulmonary stenosis Fallot type (disorder) Occurrence True Congenital Inferred relationship Some 2
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect and pulmonary stenosis Fallot type (disorder) Occurrence True Congenital Inferred relationship Some 3
Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis Fallot type (disorder) Occurrence True Congenital Inferred relationship Some 1
Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis Fallot type (disorder) Occurrence True Congenital Inferred relationship Some 2
Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis Fallot type (disorder) Occurrence True Congenital Inferred relationship Some 3
Perimembranous outlet ventricular septal defect with anteriorly malaligned outlet septum (disorder) Occurrence True Congenital Inferred relationship Some 1
Transposition of great arteries with concordant atrioventricular connections and ventricular septal defect Occurrence True Congenital Inferred relationship Some 1
Transposition of great arteries with concordant atrioventricular connections and ventricular septal defect Occurrence True Congenital Inferred relationship Some 2
Transposition of great arteries with concordant atrioventricular connections and ventricular septal defect Occurrence False Congenital Inferred relationship Some 3
Doubly committed juxta-arterial outlet ventricular septal defect with perimembranous extension and posteriorly malaligned outlet septum (disorder) Occurrence False Congenital Inferred relationship Some 1
Transposition of great arteries with concordant atrioventricular connections and ventricular septal defect and left ventricular outflow tract obstruction Occurrence True Congenital Inferred relationship Some 1
Transposition of great arteries with concordant atrioventricular connections and ventricular septal defect and left ventricular outflow tract obstruction Occurrence True Congenital Inferred relationship Some 2
Transposition of great arteries with concordant atrioventricular connections and ventricular septal defect and left ventricular outflow tract obstruction Occurrence True Congenital Inferred relationship Some 3
Transposition of great arteries with concordant atrioventricular connections and ventricular septal defect and left ventricular outflow tract obstruction Occurrence False Congenital Inferred relationship Some 4
Outlet ventricular septal defect with anteriorly malaligned outlet septum (disorder) Occurrence True Congenital Inferred relationship Some 1
Outlet ventricular septal defect with anteriorly malaligned outlet septum (disorder) Occurrence True Congenital Inferred relationship Some 2
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect and pulmonary stenosis Fallot type (disorder) Occurrence True Congenital Inferred relationship Some 4
Doubly committed juxta-arterial outlet ventricular septal defect with perimembranous extension and posteriorly malaligned outlet septum (disorder) Occurrence True Congenital Inferred relationship Some 2
Doubly committed juxta-arterial outlet ventricular septal defect with perimembranous extension and posteriorly malaligned outlet septum (disorder) Occurrence True Congenital Inferred relationship Some 3
Perimembranous outlet ventricular septal defect with anteriorly malaligned outlet septum (disorder) Occurrence True Congenital Inferred relationship Some 2
Doubly committed juxta-arterial outlet ventricular septal defect with perimembranous extension and anteriorly malaligned outlet septum (disorder) Occurrence True Congenital Inferred relationship Some 1
Doubly committed juxta-arterial outlet ventricular septal defect with perimembranous extension and anteriorly malaligned outlet septum (disorder) Occurrence True Congenital Inferred relationship Some 2
Doubly committed juxta-arterial outlet ventricular septal defect with perimembranous extension (disorder) Occurrence True Congenital Inferred relationship Some 1
Doubly committed juxta-arterial outlet ventricular septal defect with posteriorly malaligned outlet septum Occurrence True Congenital Inferred relationship Some 1
Doubly committed juxta-arterial outlet ventricular septal defect with posteriorly malaligned outlet septum Occurrence True Congenital Inferred relationship Some 2
Anterior muscular trabecular ventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Right hand pattern ventricular topology (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormal intrapericardial course of great arteries (disorder) Occurrence True Congenital Inferred relationship Some 1
Doubly committed juxta-arterial outlet ventricular septal defect with anteriorly malaligned outlet septum (disorder) Occurrence True Congenital Inferred relationship Some 1
Atrial situs inversus Occurrence True Congenital Inferred relationship Some 1
Doubly committed juxta-arterial outlet ventricular septal defect with anteriorly malaligned outlet septum (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital dysplasia of truncal valve Occurrence True Congenital Inferred relationship Some 1

Start Previous Page 305 of 344 Next End

This concept is not in any reference sets

Back to Start