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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
Dominant epidermolysis bullosa simplex, Weber-Cockayne type (disorder) Occurrence False Congenital Inferred relationship Some
Congenital urethral valve Occurrence False Congenital Inferred relationship Some
Duodenal web Occurrence False Congenital Inferred relationship Some
Macrodactyly of hand Occurrence False Congenital Inferred relationship Some
Congenital abnormality of ductus arteriosus (disorder) Occurrence False Congenital Inferred relationship Some
Congenital abnormality of vein Occurrence False Congenital Inferred relationship Some
Maternal phenylketonuria Occurrence False Congenital Inferred relationship Some
Disorder of creatine synthesis Occurrence True Congenital Inferred relationship Some 1
3-Methylglutaconic aciduria type 2 Occurrence False Congenital Inferred relationship Some
3-Methylglutaconic aciduria type 3 Occurrence False Congenital Inferred relationship Some
3-Methylglutaconic aciduria type 4 Occurrence False Congenital Inferred relationship Some
Unclassified 3-methylglutaconic aciduria Occurrence False Congenital Inferred relationship Some
Glycogen phosphorylase kinase deficiency, X-linked Occurrence False Congenital Inferred relationship Some
Glycogen phosphorylase kinase deficiency, autosomal recessive Occurrence False Congenital Inferred relationship Some
Cardiac glycogen phosphorylase kinase deficiency Occurrence False Congenital Inferred relationship Some
Hepatic and muscle glycogen phosphorylase kinase deficiency Occurrence False Congenital Inferred relationship Some
Hepatic glycogen phosphorylase kinase deficiency Occurrence False Congenital Inferred relationship Some
Retrosternal thyroid gland Occurrence False Congenital Inferred relationship Some
Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator Occurrence False Congenital Inferred relationship Some
Familial multiple lipoprotein-type hyperlipidemia Occurrence False Congenital Inferred relationship Some
Reducible umbilical hernia Occurrence False Congenital Inferred relationship Some
Congenital abnormality of iris and ciliary body (disorder) Occurrence False Congenital Inferred relationship Some
Congenital deformity of foot Occurrence False Congenital Inferred relationship Some
Congenital rearfoot valgus Occurrence False Congenital Inferred relationship Some
Congenital forefoot valgus Occurrence False Congenital Inferred relationship Some
Hypertriglyceridemia Occurrence False Congenital Inferred relationship Some
Mid-esophageal traction diverticulum Occurrence False Congenital Inferred relationship Some
Abnormal number of pulmonary valve cusps Occurrence False Congenital Inferred relationship Some
Congenital complete heart block Occurrence False Congenital Inferred relationship Some
absence de vaisseau sanguin dans le cordon ombilical Occurrence False Congenital Inferred relationship Some
Accessory salivary gland or duct Occurrence False Congenital Inferred relationship Some
Congenital broncho-esophageal fistula without atresia Occurrence False Congenital Inferred relationship Some
Congenital absence, atresia and stenosis of large intestine Occurrence False Congenital Inferred relationship Some
macrocolôn congénital non aganglionique Occurrence False Congenital Inferred relationship Some
Congenital fistula of rectum and anus Occurrence False Congenital Inferred relationship Some
Embryonic cyst of fallopian tube Occurrence False Congenital Inferred relationship Some
Congenital extension contracture of the knee Occurrence False Congenital Inferred relationship Some
Transverse deficiency of hand Occurrence False Congenital Inferred relationship Some
Transverse arrest metacarpal second to fifth rays Occurrence False Congenital Inferred relationship Some
Congenital absence of multiple toes Occurrence False Congenital Inferred relationship Some
Duplication of lower limb Occurrence False Congenital Inferred relationship Some
Mosaicism 45, X; 46, XX Occurrence False Congenital Inferred relationship Some
Hereditary splenic hypoplasia Occurrence False Congenital Inferred relationship Some
Paratubal cyst arising in mesonephric duct Occurrence False Congenital Inferred relationship Some
Non-ketotic hyperglycinemia H protein deficiency Occurrence False Congenital Inferred relationship Some
Non-ketotic hyperglycinaemia L protein deficiency Occurrence False Congenital Inferred relationship Some
Propionyl-CoA carboxylase deficiency pccA complementation group Occurrence True Congenital Inferred relationship Some 1
Propionyl-CoA carboxylase deficiency pccBC complementation group Occurrence True Congenital Inferred relationship Some 1
Disorder of serine metabolism Occurrence False Congenital Inferred relationship Some
3-Phosphoglycerate dehydrogenase deficiency Occurrence False Congenital Inferred relationship Some
Thyroglossal duct anomaly Occurrence False Congenital Inferred relationship Some
Congenital anomaly of the urinary tract proper (disorder) Occurrence False Congenital Inferred relationship Some
Lysinuric protein intolerance Occurrence False Congenital Inferred relationship Some
Unilateral cleft lip Occurrence False Congenital Inferred relationship Some
Bilateral cleft lip Occurrence False Congenital Inferred relationship Some
Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Occurrence False Congenital Inferred relationship Some
Variant Creutzfeldt-Jakob disease (disorder) Occurrence False Congenital Inferred relationship Some
Laryngeal cleft type I Occurrence False Congenital Inferred relationship Some
Laryngeal cleft type II Occurrence False Congenital Inferred relationship Some
Laryngeal cleft type III Occurrence False Congenital Inferred relationship Some
Laryngeal cleft type IV Occurrence False Congenital Inferred relationship Some
Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency Occurrence True Congenital Inferred relationship Some 1
Combined long chain hydroxyacyl-CoA dehydrogenase deficiency Occurrence True Congenital Inferred relationship Some 1
Enoyl-CoA hydratase deficiency Occurrence False Congenital Inferred relationship Some
3-Ketoacyl-CoA triolase deficiency Occurrence True Congenital Inferred relationship Some 1
Congenital agenesis of brainstem nuclei Occurrence False Congenital Inferred relationship Some
Leucodystrophy without a known biochemical basis Occurrence False Congenital Inferred relationship Some
Congenital nystagmus with sensory abnormality Occurrence False Congenital Inferred relationship Some
Congenital nystagmus without sensory abnormality Occurrence False Congenital Inferred relationship Some
Brachydactyly of hand Occurrence False Congenital Inferred relationship Some
Synbrachydactyly of hand Occurrence False Congenital Inferred relationship Some
Brachyphalangia of toe Occurrence False Congenital Inferred relationship Some
Total congenital alopecia Occurrence False Congenital Inferred relationship Some
Aberrant retro-esophageal subclavian artery causing dysphagia Occurrence False Congenital Inferred relationship Some
Congenital penoscrotal transposition Occurrence False Congenital Inferred relationship Some
Netherton syndrome Occurrence False Congenital Inferred relationship Some
Thoracic aorta abnormality (disorder) Occurrence False Congenital Inferred relationship Some
Alpha-2-antitrypsin deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Multiple epiphyseal dysplasia tarda type IIIa Occurrence False Congenital Inferred relationship Some
Strangulated paraumbilical hernia Occurrence False Congenital Inferred relationship Some
Persistent hyperplastic primary vitreous Occurrence False Congenital Inferred relationship Some
Ornithinemia with gyrate atrophy Occurrence False Congenital Inferred relationship Some
Congenital myogenic ptosis Occurrence False Congenital Inferred relationship Some
Congenital conduction defect Occurrence False Congenital Inferred relationship Some
Congenital dysgenetic ptosis Occurrence False Congenital Inferred relationship Some
Congenital absence of ovary Occurrence False Congenital Inferred relationship Some
Tryptophanuria with dwarfism Occurrence False Congenital Inferred relationship Some
Zitrullinämie, adulte, Typ 1 Occurrence False Congenital Inferred relationship Some
Congenital stenosis of larynx Occurrence False Congenital Inferred relationship Some
Congenital hypoplasia of ascending aorta Occurrence False Congenital Inferred relationship Some
Congenital rectocloacal fistula Occurrence False Congenital Inferred relationship Some
Umbilical hernia with obstruction but no gangrene Occurrence False Congenital Inferred relationship Some
Gingival cysts of infant Occurrence False Congenital Inferred relationship Some
Cleft upper lip, upper jaw AND palate Occurrence False Congenital Inferred relationship Some
Cheilognathouranoschisis Occurrence False Congenital Inferred relationship Some
Cheilognathopalatoschisis Occurrence False Congenital Inferred relationship Some
Lysine intolerance Occurrence False Congenital Inferred relationship Some
Gaucher disease type 2 is the acute neurological form of Gaucher disease. It is characterised by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2. Occurrence False Congenital Inferred relationship Some 2
Congenital absence of sternum Occurrence False Congenital Inferred relationship Some
Periodic hyperlysinaemia Occurrence False Congenital Inferred relationship Some
Periodic hyperlysinaemia with hyperammonaemia Occurrence False Congenital Inferred relationship Some

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