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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
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Occurrence False Congenital Inferred relationship Some
Tarsal coalitions Occurrence False Congenital Inferred relationship Some
Anomaly of chromosome pair 14 Occurrence False Congenital Inferred relationship Some
Congenital absence of pectoral muscle Occurrence False Congenital Inferred relationship Some
Byzanthine arch palate Occurrence False Congenital Inferred relationship Some
Gouty tophus of heart Occurrence False Congenital Inferred relationship Some
Congenital maxillary hypoplasia Occurrence False Congenital Inferred relationship Some
Short rib-polydactyly syndrome, non-Majewski type Occurrence False Congenital Inferred relationship Some
Fumarylacetoacetase deficiency, acute type Occurrence False Congenital Inferred relationship Some
Congenital macrocheilia Occurrence False Congenital Inferred relationship Some
Bilateral congenital subluxation of hip Occurrence False Congenital Inferred relationship Some
Congenital deformity of hip joint Occurrence False Congenital Inferred relationship Some
Gilbert's syndrome Occurrence True Congenital Inferred relationship Some 1
Dextrocardia Occurrence False Congenital Inferred relationship Some
Dysmorphic sialidosis, congenital form Occurrence False Congenital Inferred relationship Some 2
Congenital syphilitic periostitis Occurrence False Congenital Inferred relationship Some
Congenital hyperplasia of sebaceous glands of lip Occurrence False Congenital Inferred relationship Some
True knot of umbilical cord Occurrence False Congenital Inferred relationship Some
Maple syrup urine disease Occurrence True Congenital Inferred relationship Some 1
Acquired epidermolysis bullosa Occurrence False Congenital Inferred relationship Some
Pyloric atresia (disorder) Occurrence False Congenital Inferred relationship Some
VATER association Occurrence False Congenital Inferred relationship Some
Congenital deformity of ankle joint Occurrence False Congenital Inferred relationship Some
Pyle metaphyseal dysplasia Occurrence False Congenital Inferred relationship Some
Arnold-Chiari syndrome Occurrence False Congenital Inferred relationship Some
Mesenteric cyst Occurrence False Congenital Inferred relationship Some
Congenital pulmonary arteriovenous aneurysm Occurrence False Congenital Inferred relationship Some
Postlaminectomy kyphosis Occurrence False Congenital Inferred relationship Some
Jackson's membrane Occurrence False Congenital Inferred relationship Some
Congenital lip pits Occurrence False Congenital Inferred relationship Some
Intralobar bronchopulmonary sequestration Occurrence False Congenital Inferred relationship Some
Congenital maxillary hyperplasia Occurrence False Congenital Inferred relationship Some
Congenital hernia of bladder Occurrence False Congenital Inferred relationship Some
Methylene THF reductase deficiency AND homocystinuria Occurrence True Congenital Inferred relationship Some 1
Congenital vascular anomaly of eye Occurrence False Congenital Inferred relationship Some
Fructose-biphosphatase deficiency Occurrence True Congenital Inferred relationship Some 1
Inherited arthrogryposis Occurrence False Congenital Inferred relationship Some
Intestinal lipofuscinosis Occurrence True Congenital Inferred relationship Some 1
Crigler-Najjar syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital stenosis of nares Occurrence False Congenital Inferred relationship Some
Uhl's disease Occurrence False Congenital Inferred relationship Some
Methylmalonyl-CoA mutase deficiency Occurrence False Congenital Inferred relationship Some
Visceral gout Occurrence False Congenital Inferred relationship Some
Congenital capsular cataract Occurrence False Congenital Inferred relationship Some
Geleophysic dysplasia Occurrence False Congenital Inferred relationship Some
Congenital anomaly of coronary artery Occurrence False Congenital Inferred relationship Some
Transient hyperphenylalaninemia Occurrence False Congenital Inferred relationship Some
Keratosis palmaris et plantaris Occurrence False Congenital Inferred relationship Some
Pyridoxine dependency syndrome Occurrence False Congenital Inferred relationship Some
Congenital insufficiency of aortic valve Occurrence False Congenital Inferred relationship Some
Metaphyseal chondrodysplasia Occurrence False Congenital Inferred relationship Some
Congenital duplication of colon Occurrence False Congenital Inferred relationship Some
polykystose rénale autosomique dominante Occurrence False Congenital Inferred relationship Some
Trigonocephaly Occurrence False Congenital Inferred relationship Some
Polycystic kidney disease, infantile type Occurrence False Congenital Inferred relationship Some
Resolving infantile idiopathic scoliosis Occurrence False Congenital Inferred relationship Some
Gastric atresia Occurrence False Congenital Inferred relationship Some
Weill-Marchesani syndrome (disorder) Occurrence False Congenital Inferred relationship Some
Crouzon disease is characterised by craniosynostosis and facial hypoplasia. Occurrence False Congenital Inferred relationship Some
Disorder of sulphur-bearing amino acid metabolism Occurrence False Congenital Inferred relationship Some
Anomaly of chromosome pair 10 Occurrence False Congenital Inferred relationship Some
Umbilical cord of intertwined twins Occurrence False Congenital Inferred relationship Some
Glutaric aciduria Occurrence False Congenital Inferred relationship Some
Melnick-Fraser syndrome Occurrence False Congenital Inferred relationship Some
Bilobed right lung Occurrence False Congenital Inferred relationship Some
Venous anomaly of umbilical cord Occurrence False Congenital Inferred relationship Some
Meckel-Gruber syndrome Occurrence False Congenital Inferred relationship Some
Disorder of porphyrin metabolism Occurrence False Congenital Inferred relationship Some
Congenital absence of small intestine Occurrence False Congenital Inferred relationship Some
Schwartz-Jampel syndrome Occurrence False Congenital Inferred relationship Some
Ectromelia of upper limb Occurrence False Congenital Inferred relationship Some
Metaphyseal chondrodysplasia, Schmid type Occurrence False Congenital Inferred relationship Some
13q partial monosomy syndrome Occurrence False Congenital Inferred relationship Some
Camptodactyly Occurrence False Congenital Inferred relationship Some
Chronic granulomatous disease, type I Occurrence False Congenital Inferred relationship Some
Glycogen storage disease, type VI Occurrence True Congenital Inferred relationship Some 1
Craniolacunia Occurrence False Congenital Inferred relationship Some
Notomelus Occurrence False Congenital Inferred relationship Some
Congenital atresia of ejaculatory duct Occurrence False Congenital Inferred relationship Some
Thanatophoric dysplasia Occurrence False Congenital Inferred relationship Some
Abnormal number of cardiac valve cusps (disorder) Occurrence False Congenital Inferred relationship Some
8q partial monosomy syndrome Occurrence False Congenital Inferred relationship Some
Accessory tragus of ear Occurrence False Congenital Inferred relationship Some
Klippel's disease Occurrence False Congenital Inferred relationship Some
Peg-shaped teeth Occurrence False Congenital Inferred relationship Some
Longitudinal deficiency of tarsal bone Occurrence False Congenital Inferred relationship Some
Congenital total cataract Occurrence False Congenital Inferred relationship Some
Congenital atresia of pharynx Occurrence False Congenital Inferred relationship Some
Glycogen storage disease Occurrence True Congenital Inferred relationship Some 1
Congenital adhesions of peritoneum Occurrence False Congenital Inferred relationship Some
Congenital alopecia Occurrence False Congenital Inferred relationship Some
Combined molybdoflavoprotein enzyme deficiency Occurrence False Congenital Inferred relationship Some
Darwin's tubercle Occurrence False Congenital Inferred relationship Some
Paraumbilical hernia Occurrence False Congenital Inferred relationship Some
Dihydrolipoamide dehydrogenase deficiency Occurrence True Congenital Inferred relationship Some 1
Congenital insufficiency of mitral valve Occurrence False Congenital Inferred relationship Some
Anomalous pulmonary venous drainage to coronary sinus Occurrence False Congenital Inferred relationship Some
Extralobar bronchopulmonary sequestration Occurrence False Congenital Inferred relationship Some
Myelatelia Occurrence False Congenital Inferred relationship Some
Congenital malrotation of intestine Occurrence False Congenital Inferred relationship Some
Porokeratosis of Mibelli, superficial disseminated type Occurrence False Congenital Inferred relationship Some

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