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 dysplasia of truncal valve Occurrence True Congenital Inferred relationship Some 1
Common atrioventricular valve with unbalanced commitment of valve to ventricle Occurrence True Congenital Inferred relationship Some 1
Common atrioventricular valve with unbalanced commitment of valve to right ventricle (disorder) Occurrence True Congenital Inferred relationship Some 1
Perimembranous inlet ventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Syndactyly of toes with fusion of bones of toes of bilateral feet (disorder) Occurrence True Congenital Inferred relationship Some 1
Syndactyly of toes with fusion of bones of toes of bilateral feet (disorder) Occurrence True Congenital Inferred relationship Some 2
Intermediate atrioventricular septal defect with atrial and ventricular components and separate atrioventricular valves Occurrence True Congenital Inferred relationship Some 1
Intermediate atrioventricular septal defect with atrial and ventricular components and separate atrioventricular valves Occurrence True Congenital Inferred relationship Some 2
Common atrium with common atrioventricular junction (disorder) Occurrence True Congenital Inferred relationship Some 1
Common atrium with common atrioventricular junction (disorder) Occurrence True Congenital Inferred relationship Some 2
Atrioventricular septal defect with ventricular imbalance Occurrence True Congenital Inferred relationship Some 1
Doubly committed juxta-arterial ventricular septal defect with anteriorly malaligned fibrous outlet septum and muscular postero-inferior rim Occurrence True Congenital Inferred relationship Some 1
Doubly committed juxta-arterial ventricular septal defect with anteriorly malaligned fibrous outlet septum and muscular postero-inferior rim Occurrence True Congenital Inferred relationship Some 2
Doubly committed juxta-arterial ventricular septal defect with anteriorly malaligned fibrous outlet septum and muscular postero-inferior rim Occurrence False Congenital Inferred relationship Some 3
Atrioventricular septal defect with balanced ventricles (disorder) Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect with balanced ventricles (disorder) Occurrence True Congenital Inferred relationship Some 2
Common atrium with separate arterioventricular junctions (disorder) Occurrence True Congenital Inferred relationship Some 1
Common arterial trunk with pulmonary dominance and aortic coarctation Occurrence True Congenital Inferred relationship Some 1
Common arterial trunk with pulmonary dominance and aortic coarctation Occurrence True Congenital Inferred relationship Some 2
Common arterial trunk with pulmonary dominance and aortic coarctation Occurrence True Congenital Inferred relationship Some 3
Common arterial trunk with pulmonary dominance (disorder) Occurrence True Congenital Inferred relationship Some 1
Common arterial trunk with pulmonary dominance (disorder) Occurrence True Congenital Inferred relationship Some 2
Perimembranous outlet ventricular septal defect with posteriorly malaligned outlet septum (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of annulus fibrosus of aorta (disorder) Occurrence True Congenital Inferred relationship Some 1
Tricuspid atresia with absent right atrioventricular connection Occurrence True Congenital Inferred relationship Some 1
Tricuspid atresia with absent right atrioventricular connection Occurrence True Congenital Inferred relationship Some 2
Mitral atresia with imperforate mitral valve Occurrence True Congenital Inferred relationship Some 1
Muscular ventricular septal defect opening to right ventricular inlet Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of left ventricle (disorder) Occurrence True Congenital Inferred relationship Some 1
Double inlet to solitary ventricle of indeterminate morphology (disorder) Occurrence True Congenital Inferred relationship Some 1
Atypical left ventricular component of common atrioventricular valve (disorder) Occurrence True Congenital Inferred relationship Some 1
Disorder of ascending aorta due to conotruncal malformation Occurrence True Congenital Inferred relationship Some 1
Congenital right ventricular anomaly Occurrence True Congenital Inferred relationship Some 1
Atypical right ventricular component of common atrioventricular valve (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 2
Perimembranous inlet ventricular septal defect with atrioventricular septal malalignment (disorder) Occurrence True Congenital Inferred relationship Some 2
Syndactyly of toes with fusion of bones of toes of bilateral feet (disorder) Occurrence True Congenital Inferred relationship Some 3
Syndactyly of toes with fusion of bones of toes of bilateral feet (disorder) Occurrence True Congenital Inferred relationship Some 4
Thoracic myelocele Occurrence True Congenital Inferred relationship Some 1
Doubly committed juxta-arterial ventricular septal defect with anteriorly malaligned fibrous outlet septum and muscular postero-inferior rim Occurrence False Congenital Inferred relationship Some 4
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3). Occurrence True Congenital Inferred relationship Some 3
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3). Occurrence True Congenital Inferred relationship Some 4
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3). Occurrence True Congenital Inferred relationship Some 2
A rare, genetic renal tubular disease characterized by phosphate loss in the proximal tubule, leading to hypercalciuria and recurrent urolithiasis and/or osteoporosis. Occurrence True Congenital Inferred relationship Some 3
A rare, genetic renal tubular disease characterized by phosphate loss in the proximal tubule, leading to hypercalciuria and recurrent urolithiasis and/or osteoporosis. Occurrence True Congenital Inferred relationship Some 2
Right atrial appendage absent Occurrence True Congenital Inferred relationship Some 1
Congenital absence of chordae tendineae of tricuspid valve (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital absence of carpal bone and metacarpal bone Occurrence True Congenital Inferred relationship Some 1
Congenital absence of carpal bone and metacarpal bone Occurrence True Congenital Inferred relationship Some 2
Aplasia cutis congenita of limb (disorder) Occurrence True Congenital Inferred relationship Some 1
Agenesis of tarsal bone and metatarsal bone Occurrence True Congenital Inferred relationship Some 1
Agenesis of tarsal bone and metatarsal bone Occurrence True Congenital Inferred relationship Some 2
Congenital malformation caused by valproic acid Occurrence True Congenital Inferred relationship Some 1
aplasie congénitale de l'utérus et des deux tiers supérieurs du vagin avec développement normal des caractères sexuels secondaires et caryotype normal Occurrence False Congenital Inferred relationship Some 3
Mayer-Rokitansky-Küster-Hauser syndrome type 2 (disorder) Occurrence True Congenital Inferred relationship Some 2
Mayer-Rokitansky-Küster-Hauser syndrome type 2 (disorder) Occurrence True Congenital Inferred relationship Some 3
Syndactyly of toes of bilateral feet (disorder) Occurrence True Congenital Inferred relationship Some 1
Syndactyly of toes of bilateral feet (disorder) Occurrence True Congenital Inferred relationship Some 2
Bilateral megalencephaly Occurrence True Congenital Inferred relationship Some 1
Bilateral megalencephaly Occurrence True Congenital Inferred relationship Some 2
A very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy. Occurrence True Congenital Inferred relationship Some 1
syndrome de délétion 14q32 Occurrence False Congenital Inferred relationship Some 1
syndrome de délétion 14q32 Occurrence False Congenital Inferred relationship Some 2
syndrome de délétion 14q32 Occurrence False Congenital Inferred relationship Some 3
Alpha-N-acetylgalactosaminidase deficiency type 2 Occurrence True Congenital Inferred relationship Some 1
Alpha-N-acetylgalactosaminidase deficiency type 3 (disorder) Occurrence True Congenital Inferred relationship Some 1
11p15 deletion syndrome Occurrence True Congenital Inferred relationship Some 1
11p15 deletion syndrome Occurrence True Congenital Inferred relationship Some 2
11p15 duplication syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
12q15 deletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
12q15 deletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
12q24.31-q24.32 deletion syndrome Occurrence True Congenital Inferred relationship Some 1
17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas. Occurrence True Congenital Inferred relationship Some 1
17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas. Occurrence True Congenital Inferred relationship Some 2
17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas. Occurrence True Congenital Inferred relationship Some 3
17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas. Occurrence True Congenital Inferred relationship Some 4
46,XY disorder of sex development Occurrence True Congenital Inferred relationship Some 1
46,XX androgen-induced disorder of sex development due to maternal adrenal hyperplasia (disorder) Occurrence True Congenital Inferred relationship Some 1
Double orifice of common atrioventricular valve Occurrence True Congenital Inferred relationship Some 1
Double orifice of common atrioventricular valve Occurrence True Congenital Inferred relationship Some 2
46,XX androgen-induced disorder of sex development of iatrogenic maternal origin Occurrence True Congenital Inferred relationship Some 1
46,XX disorder of sex development caused by synthetic oral progestogen (disorder) Occurrence True Congenital Inferred relationship Some 1
46,XX disorder of sex development caused by synthetic oral diethylstilbestrol Occurrence True Congenital Inferred relationship Some 1
46,XX disorder of sex development caused by testosterone and/or testosterone derivative Occurrence True Congenital Inferred relationship Some 1
46,XX testicular disorder of sex development (disorder) Occurrence True Congenital Inferred relationship Some 1
A congenital developmental abnormality of the ileum where there is a septum occluding the lumen resulting in obstruction of the ileum with proximal intestinal dilation in continuity with a collapsed distal intestine; the intestine develops to a normal length. Occurrence True Congenital Inferred relationship Some 1
A congenital developmental abnormality of the ileum where there is a gap in the intestine resulting in obstruction of the ileum; the proximal dilated section of intestine forms a blind end and is connected to the distal smaller segment by a fibrous cord which runs along the edge of the mesentery; the mesentery is intact and the intestine develops to a normal length. Occurrence True Congenital Inferred relationship Some 1
A congenital developmental abnormality of the ileum where there is a gap in the intestine due to a mesenteric defect resulting in obstruction of the ileum; the proximal dilated section of intestine and the distal narrower segment are both blind ends; the intestine may be reduced in length. Occurrence True Congenital Inferred relationship Some 1
Atresia of jejunum type I (disorder) Occurrence True Congenital Inferred relationship Some 1
A congenital developmental abnormality of the jejunum where there is a gap in the intestine resulting in obstruction of the jejunum; the proximal dilated section of intestine forms a blind end and is connected to the distal smaller segment by a fibrous cord which runs along the edge of the mesentery; the mesentery is intact and the intestine develops to a normal length. Occurrence True Congenital Inferred relationship Some 1
A congenital developmental abnormality of the jejunum where there is a gap in the intestine due to a mesenteric defect resulting in obstruction of the jejunum; the proximal dilated section of intestine and the distal narrower segment are both blind ends; the intestine may be reduced in length. Occurrence True Congenital Inferred relationship Some 1
17q23.1-q23.2 duplication syndrome Occurrence True Congenital Inferred relationship Some 1
17q23.1-q23.2 duplication syndrome Occurrence True Congenital Inferred relationship Some 2
17q24-qter duplication syndrome Occurrence True Congenital Inferred relationship Some 1
17q24-qter duplication syndrome Occurrence True Congenital Inferred relationship Some 2
20p12.2 deletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
20p12.2 deletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements. Occurrence True Congenital Inferred relationship Some 1
3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements. Occurrence True Congenital Inferred relationship Some 2
5q22.2 deletion syndrome Occurrence True Congenital Inferred relationship Some 1
5q22.2 deletion syndrome Occurrence True Congenital Inferred relationship Some 2

Start Previous Page 306 of 344 Next End

This concept is not in any reference sets

Back to Start