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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
135131000052119 medfödd sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


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
Chondroectodermal dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 4
Aortic left ventricular tunnel Occurrence False Congenital Inferred relationship Some 4
Congenital partial fusion of spine with hemivertebra - balanced Occurrence False Congenital Inferred relationship Some 3
11p partial monosomy syndrome Occurrence False Congenital Inferred relationship Some 2
Congenital dislocation of knee with genu recurvatum Occurrence False Congenital Inferred relationship Some 4
Congenital arterial aneurysm Occurrence False Congenital Inferred relationship Some 2
Isolation of common carotid artery Occurrence False Congenital Inferred relationship Some 2
Ectopic tooth Occurrence False Congenital Inferred relationship Some 2
Congenital renal artery aneurysm Occurrence False Congenital Inferred relationship Some 2
Congenital stenosis of mitral valve Occurrence False Congenital Inferred relationship Some 2
Congenital ankylosis of elbow Occurrence False Congenital Inferred relationship Some 4
Congenital stenosis of carotid artery Occurrence False Congenital Inferred relationship Some 2
Lutembacher's syndrome Occurrence False Congenital Inferred relationship Some 4
Brachycephaly Occurrence False Congenital Inferred relationship Some 4
Congenital stenosis of appendix Occurrence False Congenital Inferred relationship Some 2
Atresia of aqueduct of Sylvius Occurrence False Congenital Inferred relationship Some 2
Cheilognathoprosoposchisis Occurrence False Congenital Inferred relationship Some 9
Congenital stenosis of distal coronary artery (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital stenosis of colon (disorder) Occurrence False Congenital Inferred relationship Some 2
Aqueduct of Sylvius anomaly (disorder) Occurrence False Congenital Inferred relationship Some 2
Nasal glial heterotopia Occurrence False Congenital Inferred relationship Some 4
Isolation of left common carotid artery (disorder) Occurrence False Congenital Inferred relationship Some 2
Congenital stenosis of aqueduct of Sylvius Occurrence False Congenital Inferred relationship Some 2
Labial ectopic tooth Occurrence False Congenital Inferred relationship Some 1
Congenital anomaly of carotid artery Occurrence False Congenital Inferred relationship Some 2
Congenital cleft of posterior cricoid cartilage Occurrence False Congenital Inferred relationship Some 3
Preductal interruption of aorta Occurrence False Congenital Inferred relationship Some 3
Isolation of right common carotid artery (disorder) Occurrence False Congenital Inferred relationship Some 2
Congenital cardiovascular anomaly in mother complicating childbirth Occurrence True Congenital Inferred relationship Some 1
medfödd stenos Occurrence False Congenital Inferred relationship Some 1
Major partial trisomy Occurrence True Congenital Inferred relationship Some 1
Congenital absence of oviduct (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital coronary arteriovenous fistula Occurrence False Congenital Inferred relationship Some 3
Trisomy 10 (disorder) Occurrence True Congenital Inferred relationship Some 1
Long segment Hirschsprung's disease (disorder) Occurrence True Congenital Inferred relationship Some 3
Short segment Hirschsprung's disease Occurrence True Congenital Inferred relationship Some 3
XXYY syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
CAH - desmolase deficiency Occurrence True Congenital Inferred relationship Some 1
6p partial trisomy syndrome Occurrence True Congenital Inferred relationship Some 1
14q partial distal trisomy syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital cyst of vulva Occurrence True Congenital Inferred relationship Some 2
Duplication seen only at prometaphase Occurrence True Congenital Inferred relationship Some 1
Trisomy X syndrome Occurrence True Congenital Inferred relationship Some 1
Group chromosomal alteration Occurrence True Congenital Inferred relationship Some 1
Sex chromosome abnormality - male phenotype Occurrence True Congenital Inferred relationship Some 1
Steroid 21-monooxygenase deficiency, simple virilising type Occurrence False Congenital Inferred relationship Some 3
Deletion of part of autosome Occurrence True Congenital Inferred relationship Some 1
Congenital cardiac failure Occurrence True Congenital Inferred relationship Some 1
Chromosomal alterations of group A Occurrence True Congenital Inferred relationship Some 1
17 alpha-Hydroxyprogesterone aldolase deficiency Occurrence False Congenital Inferred relationship Some 3
Congenital dilatation of innominate artery Occurrence False Congenital Inferred relationship Some 2
Deutan defect Occurrence True Congenital Inferred relationship Some 1
2p partial trisomy syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital arteriovenous fistula infection Occurrence False Congenital Inferred relationship Some 2
Congenital chylothorax Occurrence False Congenital Inferred relationship Some 2
Mosaic variegated aneuploidy syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Complete trisomy 21 syndrome Occurrence True Congenital Inferred relationship Some 1
Anomaly of chromosome Y Occurrence True Congenital Inferred relationship Some 1
5p partial trisomy Occurrence True Congenital Inferred relationship Some 1
Turners fenotyp, mosaikism 45, X; 46, XX eller 45, X; 46, XY Occurrence False Congenital Inferred relationship Some 1
kromosom ersatt av ring- eller dicentrisk kromosom Occurrence False Congenital Inferred relationship Some 1
Congenital ectopic pupil (disorder) Occurrence False Congenital Inferred relationship Some 2
Persisting fifth aortic arch with atresia of fourth arch (disorder) Occurrence False Congenital Inferred relationship Some 4
Corticosterone 18-monooxygenase deficiency Occurrence True Congenital Inferred relationship Some 1
8q partial trisomy syndrome Occurrence True Congenital Inferred relationship Some 1
Fragile X syndrome Occurrence True Congenital Inferred relationship Some 2
Autosomal deletion - mosaicism Occurrence True Congenital Inferred relationship Some 1
Female with more than three X chromosomes (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital aneurysm of ascending aorta Occurrence False Congenital Inferred relationship Some 2
Complete trisomy 22 syndrome Occurrence True Congenital Inferred relationship Some 1
Turner syndrome Occurrence False Congenital Inferred relationship Some 1
Chromosomal alterations of group B Occurrence True Congenital Inferred relationship Some 1
Karyotype 46, X with abnormal sex chromosome except iso (Xq) Occurrence False Congenital Inferred relationship Some 1
Anomaly of chromosome pair 2 Occurrence True Congenital Inferred relationship Some 1
Triploidy, diploidy, mixoploidy syndrome Occurrence True Congenital Inferred relationship Some 1
Atresia of pulmonary trunk with absent right pulmonary artery (disorder) Occurrence False Congenital Inferred relationship Some 3
Atresia of pulmonary trunk with absent right pulmonary artery (disorder) Occurrence False Congenital Inferred relationship Some 4
Congenital arteriovenous fistula aneurysm Occurrence False Congenital Inferred relationship Some 2
Partial trisomy syndromes Occurrence True Congenital Inferred relationship Some 1
Congenital arteriovenous fistula thrombosis Occurrence False Congenital Inferred relationship Some 3
Mosaic XO/XY Occurrence True Congenital Inferred relationship Some 1
Cleft hard palate, bilateral Occurrence False Congenital Inferred relationship Some 3
Whole chromosome monosomy - mitotic nondisjunction mosaicism (disorder) Occurrence True Congenital Inferred relationship Some 1
Mosaic including XXXXY Occurrence True Congenital Inferred relationship Some 1
18p partial trisomy syndrome Occurrence True Congenital Inferred relationship Some 1
partiellt monosomi 22q11-syndrom Occurrence False Congenital Inferred relationship Some 1
3p partial monosomy syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital coronary artery fistula to right ventricle (disorder) Occurrence False Congenital Inferred relationship Some 3
Sex chromosome abnormality - female phenotype Occurrence True Congenital Inferred relationship Some 1
Occult submucous cleft palate Occurrence False Congenital Inferred relationship Some 3
Congenital arteriovenous fistula haemorrhage Occurrence False Congenital Inferred relationship Some 3
7q partial monosomy Occurrence True Congenital Inferred relationship Some 2
Chromosomal alterations of group E (disorder) Occurrence True Congenital Inferred relationship Some 1
Cat eye syndrome Occurrence True Congenital Inferred relationship Some 1
komplett trisomi 14-syndrom Occurrence False Congenital Inferred relationship Some 1
Turner's phenotype, karyotype normal (disorder) Occurrence False Congenital Inferred relationship Some 1
Congenital choroid plexus cyst Occurrence True Congenital Inferred relationship Some 1
Congenital insufficiency of aortic valve Occurrence False Congenital Inferred relationship Some 3
Gynandromorphism syndrome Occurrence True Congenital Inferred relationship Some 1
medfödd cysta på ovidukt Occurrence False Congenital Inferred relationship Some 2
Anomaly of chromosome pair 17 Occurrence True Congenital Inferred relationship Some 1

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