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255399007: Congenital (qualifier value)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym Active Entire term case insensitive SNOMED CT core module
380599019 Congenita en Synonym Active Entire term case insensitive SNOMED CT core module
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive SNOMED CT core module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Dominant epidermolysis bullosa simplex, Weber-Cockayne type Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital urethral valve Occurrence False Congenital Inferred relationship Existential restriction modifier
Duodenal web Occurrence False Congenital Inferred relationship Existential restriction modifier
Macrodactyly of hand Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital abnormality of ductus arteriosus Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital abnormality of vein Occurrence False Congenital Inferred relationship Existential restriction modifier
Maternal phenylketonuria Occurrence False Congenital Inferred relationship Existential restriction modifier
Disorder of creatine synthesis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
3-Methylglutaconic aciduria type 2 Occurrence False Congenital Inferred relationship Existential restriction modifier
3-Methylglutaconic aciduria type 3 Occurrence False Congenital Inferred relationship Existential restriction modifier
3-Methylglutaconic aciduria type 4 Occurrence False Congenital Inferred relationship Existential restriction modifier
Unclassified 3-methylglutaconic aciduria Occurrence False Congenital Inferred relationship Existential restriction modifier
Glycogen phosphorylase kinase deficiency, X-linked Occurrence False Congenital Inferred relationship Existential restriction modifier
Glycogen phosphorylase kinase deficiency, autosomal recessive Occurrence False Congenital Inferred relationship Existential restriction modifier
Cardiac glycogen phosphorylase kinase deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier
Hepatic and muscle glycogen phosphorylase kinase deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier
Hepatic glycogen phosphorylase kinase deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier
Retrosternal thyroid gland Occurrence False Congenital Inferred relationship Existential restriction modifier
Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator Occurrence False Congenital Inferred relationship Existential restriction modifier
Familial multiple lipoprotein-type hyperlipidemia Occurrence False Congenital Inferred relationship Existential restriction modifier
Reducible umbilical hernia Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital abnormality of iris and ciliary body Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital deformity of foot Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital rearfoot valgus Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital forefoot valgus Occurrence False Congenital Inferred relationship Existential restriction modifier
Hypertriglyceridemia Occurrence False Congenital Inferred relationship Existential restriction modifier
Mid-esophageal traction diverticulum Occurrence False Congenital Inferred relationship Existential restriction modifier
Abnormal number of pulmonary valve cusps Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital complete heart block Occurrence False Congenital Inferred relationship Existential restriction modifier
Absent blood vessel in umbilical cord Occurrence False Congenital Inferred relationship Existential restriction modifier
Accessory salivary gland or duct Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital bronchoesophageal fistula without atresia Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital absence, atresia and stenosis of large intestine Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital macrocolon, not aganglionic Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital fistula of rectum and anus Occurrence False Congenital Inferred relationship Existential restriction modifier
Embryonic cyst of fallopian tube Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital extension contracture of the knee Occurrence False Congenital Inferred relationship Existential restriction modifier
Transverse deficiency of hand Occurrence False Congenital Inferred relationship Existential restriction modifier
Transverse arrest metacarpal second to fifth rays Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital absence of multiple toes Occurrence False Congenital Inferred relationship Existential restriction modifier
Duplication of lower limb Occurrence False Congenital Inferred relationship Existential restriction modifier
Mosaicism 45, X; 46, XX Occurrence False Congenital Inferred relationship Existential restriction modifier
Hereditary splenic hypoplasia Occurrence False Congenital Inferred relationship Existential restriction modifier
Paratubal cyst arising in mesonephric duct Occurrence False Congenital Inferred relationship Existential restriction modifier
Non-ketotic hyperglycinemia H protein deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier
Non-ketotic hyperglycinemia L protein deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier
Propionyl-coenzyme A carboxylase deficiency pccA complementation group Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Propionyl-coenzyme A carboxylase deficiency pccBC complementation group Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Disorder of serine metabolism Occurrence False Congenital Inferred relationship Existential restriction modifier
3-Phosphoglycerate dehydrogenase deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier
Thyroglossal duct anomaly Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital anomaly of the urinary tract proper Occurrence False Congenital Inferred relationship Existential restriction modifier
Lysinuric protein intolerance Occurrence False Congenital Inferred relationship Existential restriction modifier
Unilateral cleft lip Occurrence False Congenital Inferred relationship Existential restriction modifier
Bilateral cleft lip Occurrence False Congenital Inferred relationship Existential restriction modifier
Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Occurrence False Congenital Inferred relationship Existential restriction modifier
Variant Creutzfeldt-Jakob disease Occurrence False Congenital Inferred relationship Existential restriction modifier
Laryngeal cleft type I Occurrence False Congenital Inferred relationship Existential restriction modifier
Laryngeal cleft type II Occurrence False Congenital Inferred relationship Existential restriction modifier
Laryngeal cleft type III Occurrence False Congenital Inferred relationship Existential restriction modifier
Laryngeal cleft type IV Occurrence False Congenital Inferred relationship Existential restriction modifier
Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Combined long chain hydroxyacyl-coenzyme A dehydrogenase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Enoyl-CoA hydratase deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier
3-Ketoacyl-coenzyme A triolase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital agenesis of brainstem nuclei Occurrence False Congenital Inferred relationship Existential restriction modifier
Leucodystrophy without a known biochemical basis Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital nystagmus with sensory abnormality Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital nystagmus without sensory abnormality Occurrence False Congenital Inferred relationship Existential restriction modifier
Brachydactyly of hand Occurrence False Congenital Inferred relationship Existential restriction modifier
Synbrachydactyly of hand Occurrence False Congenital Inferred relationship Existential restriction modifier
Brachyphalangia of toe Occurrence False Congenital Inferred relationship Existential restriction modifier
Total congenital alopecia Occurrence False Congenital Inferred relationship Existential restriction modifier
Aberrant retroesophageal subclavian artery causing dysphagia lusoria Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital penoscrotal transposition Occurrence False Congenital Inferred relationship Existential restriction modifier
Netherton's syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier
Thoracic aorta abnormality Occurrence False Congenital Inferred relationship Existential restriction modifier
Alpha-2-antitrypsin deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Multiple epiphyseal dysplasia tarda type IIIa Occurrence False Congenital Inferred relationship Existential restriction modifier
Strangulated paraumbilical hernia Occurrence False Congenital Inferred relationship Existential restriction modifier
Persistent hyperplastic primary vitreous Occurrence False Congenital Inferred relationship Existential restriction modifier
Ornithinemia with gyrate atrophy Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital myogenic ptosis Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital conduction defect Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital dysgenetic ptosis Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital absence of ovary Occurrence False Congenital Inferred relationship Existential restriction modifier
Tryptophanuria with dwarfism Occurrence False Congenital Inferred relationship Existential restriction modifier
Citrullinemia, late-onset type Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital stenosis of larynx Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital hypoplasia of ascending aorta Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital rectocloacal fistula Occurrence False Congenital Inferred relationship Existential restriction modifier
Umbilical hernia with obstruction but no gangrene Occurrence False Congenital Inferred relationship Existential restriction modifier
Gingival cysts of infant Occurrence False Congenital Inferred relationship Existential restriction modifier
Cleft upper lip, upper jaw AND palate Occurrence False Congenital Inferred relationship Existential restriction modifier
Cheilognathouranoschisis Occurrence False Congenital Inferred relationship Existential restriction modifier
Cheilognathopalatoschisis Occurrence False Congenital Inferred relationship Existential restriction modifier
Lysine intolerance Occurrence False Congenital Inferred relationship Existential restriction modifier
Acute neuronopathic Gaucher's disease Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Congenital absence of sternum Occurrence False Congenital Inferred relationship Existential restriction modifier
Periodic hyperlysinemia Occurrence False Congenital Inferred relationship Existential restriction modifier
Periodic hyperlysinemia with hyperammonemia Occurrence False Congenital Inferred relationship Existential restriction modifier

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