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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
Congenital anomaly of maxilla Occurrence False Congenital Inferred relationship Some
Congenital anomaly of mandible Occurrence False Congenital Inferred relationship Some
Congenital anomaly of nose Occurrence False Congenital Inferred relationship Some
Congenital anomaly of nasal sinuses Occurrence False Congenital Inferred relationship Some
Congenital anomaly of ocular adnexa Occurrence False Congenital Inferred relationship Some
Congenital anomaly of digestive organ (disorder) Occurrence False Congenital Inferred relationship Some
Congenital anomaly of mouth Occurrence False Congenital Inferred relationship Some
Congenital anomaly of duodenum Occurrence False Congenital Inferred relationship Some
Congenital anomaly of palate Occurrence False Congenital Inferred relationship Some
Congenital anomaly of peritoneum Occurrence False Congenital Inferred relationship Some
Congenital anomaly of gastrointestinal tract Occurrence False Congenital Inferred relationship Some
Congenital structural abnormality of cornea Occurrence False Congenital Inferred relationship Some
Congenital anomaly of lens Occurrence False Congenital Inferred relationship Some
Congenital small optic disc with normal visual function Occurrence False Congenital Inferred relationship Some
Congenital anomaly of posterior segment of eye Occurrence False Congenital Inferred relationship Some
Congenital anomaly of talus Occurrence False Congenital Inferred relationship Some
Congenital coronary artery fistula to left atrium Occurrence False Congenital Inferred relationship Some
Congenital coronary artery fistula to left ventricle Occurrence False Congenital Inferred relationship Some
Congenital coronary artery fistula to right atrium (disorder) Occurrence False Congenital Inferred relationship Some
Congenital coronary artery fistula to right ventricle Occurrence False Congenital Inferred relationship Some
Juxtaposed atrial appendage Occurrence False Congenital Inferred relationship Some
Congenital pulmonary vein confluence Occurrence False Congenital Inferred relationship Some
Congenital pulmonary venous atrium Occurrence False Congenital Inferred relationship Some
Congenital systemic venous atrium Occurrence False Congenital Inferred relationship Some
Left ventricle outflow chamber Occurrence False Congenital Inferred relationship Some
Right ventricle outflow chamber Occurrence False Congenital Inferred relationship Some
Congenital pulmonary artery conduit Occurrence False Congenital Inferred relationship Some
Medium-chain acyl-coenzyme A dehydrogenase deficiency Occurrence True Congenital Inferred relationship Some 1
Congenital absence of bile duct Occurrence False Congenital Inferred relationship Some
Congenital stricture of ureteropelvic junction Occurrence False Congenital Inferred relationship Some
Congenital anomaly of iris Occurrence False Congenital Inferred relationship Some
Thiamine-responsive megaloblastic anemia Occurrence True Congenital Inferred relationship Some 3
Disorder of phenylalanine metabolism Occurrence False Congenital Inferred relationship Some
A rare inborn error of metabolism characterized by abnormal accumulation of plasma cystathionine and subsequent increased urinary excretion due to cystathionine gamma-lyase deficiency. The condition is considered benign without pathological relevance. Mode of inheritance is autosomal recessive. Occurrence False Congenital Inferred relationship Some
Congenital ichthyosis of skin Occurrence False Congenital Inferred relationship Some
Hypospadias Occurrence False Congenital Inferred relationship Some
A rare inherited disorder of leucine metabolism characterised by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults. Occurrence True Congenital Inferred relationship Some 1
Congenital heart disease Occurrence False Congenital Inferred relationship Some
Congenital spondylolisthesis Occurrence False Congenital Inferred relationship Some
Synechia vulvae Occurrence False Congenital Inferred relationship Some
Femoral hypoplasia - unusual facies syndrome Occurrence False Congenital Inferred relationship Some
Congenital corneal opacity interfering with vision Occurrence False Congenital Inferred relationship Some
Pipecolic acidemia Occurrence False Congenital Inferred relationship Some
Incomplete anencephaly Occurrence False Congenital Inferred relationship Some
Congenital absence of part of arm Occurrence False Congenital Inferred relationship Some
Ablepharon Occurrence False Congenital Inferred relationship Some
Melnick-Needles syndrome Occurrence False Congenital Inferred relationship Some
Anomalous muscle bands of left ventricle Occurrence False Congenital Inferred relationship Some
Congenital anomaly of lacrimal system Occurrence False Congenital Inferred relationship Some
Congenital lobulation of kidney Occurrence False Congenital Inferred relationship Some
An autosomal anomaly with characteristics of variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioural characteristics. Occurrence False Congenital Inferred relationship Some
Congenital duplication of stomach Occurrence False Congenital Inferred relationship Some
Congenital cleft hand Occurrence False Congenital Inferred relationship Some 4
Congenital absence of lobe of liver Occurrence False Congenital Inferred relationship Some
Hypercholesterolemia Occurrence False Congenital Inferred relationship Some
Brachycephaly Occurrence False Congenital Inferred relationship Some
Congenital stricture of urethra Occurrence False Congenital Inferred relationship Some
Anomaly of chromosome pair 3 Occurrence False Congenital Inferred relationship Some
Congenital anomaly of aortic valve Occurrence False Congenital Inferred relationship Some
Uterus unicornis Occurrence False Congenital Inferred relationship Some
Congenital anomaly of urethra Occurrence False Congenital Inferred relationship Some
Buphthalmos Occurrence False Congenital Inferred relationship Some
Preductal coarctation of aorta Occurrence False Congenital Inferred relationship Some
Lenz-Majewski hyperostosis syndrome Occurrence False Congenital Inferred relationship Some
Derencephalus Occurrence False Congenital Inferred relationship Some
12p partial trisomy syndrome Occurrence False Congenital Inferred relationship Some
Propionyl-CoA carboxylase deficiency Occurrence False Congenital Inferred relationship Some
Multiple carboxylase deficiency - neonatal onset Occurrence False Congenital Inferred relationship Some
Holocarboxylase synthase deficiency Occurrence False Congenital Inferred relationship Some
Homocystinuria vitamin B12-responsive type III Occurrence False Congenital Inferred relationship Some
Functional defects of methionine synthase Occurrence False Congenital Inferred relationship Some
Homogentisate 1,2-dioxygenase deficiency Occurrence False Congenital Inferred relationship Some
Double renal pelvis Occurrence False Congenital Inferred relationship Some
Hypoplastic chondrodystrophy Occurrence False Congenital Inferred relationship Some
Pigmented xerodermoid Occurrence False Congenital Inferred relationship Some
Lipofuscinosis Occurrence True Congenital Inferred relationship Some 1
Hepatic tyrosine aminotransferase deficiency Occurrence False Congenital Inferred relationship Some
Glutaryl-CoA dehydrogenase deficiency Occurrence False Congenital Inferred relationship Some
Doubling of uterus with doubling of cervix and vagina Occurrence False Congenital Inferred relationship Some
Dysplastic ovary Occurrence False Congenital Inferred relationship Some
Congenital ovarian dysplasia Occurrence False Congenital Inferred relationship Some
Congenital epiblepharon-inferior oblique syndrome Occurrence False Congenital Inferred relationship Some
Swan's syndrome II Occurrence False Congenital Inferred relationship Some
Brachycephalic dwarfism Occurrence False Congenital Inferred relationship Some
Embedded tooth Occurrence False Congenital Inferred relationship Some
Aganglionosis of Auerbach's plexus Occurrence False Congenital Inferred relationship Some
Congenital prolapse of urinary bladder Occurrence False Congenital Inferred relationship Some
Congenital megacolon Occurrence False Congenital Inferred relationship Some
Aganglionosis of colon Occurrence False Congenital Inferred relationship Some
kyste mésonéphrique Occurrence False Congenital Inferred relationship Some
Wolffian cyst Occurrence False Congenital Inferred relationship Some
Common atrioventricular canal Occurrence False Congenital Inferred relationship Some
Congenital stenosis of small intestine Occurrence False Congenital Inferred relationship Some
Congenital atresia of jejunum Occurrence False Congenital Inferred relationship Some
Malrotation of the intestine type IIID Occurrence False Congenital Inferred relationship Some
Familial megaloblastic anemia Occurrence True Congenital Inferred relationship Some 3
Dandy-Walker syndrome Occurrence False Congenital Inferred relationship Some
Henck-Assman disease Occurrence False Congenital Inferred relationship Some
Autosomal recessive lethal osteopetrosis Occurrence False Congenital Inferred relationship Some
chondrodysplasie ponctuée congénitale Occurrence False Congenital Inferred relationship Some
Anomalous origin of right subclavian artery Occurrence False Congenital Inferred relationship Some

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