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255399007: Congenital (qualifier value)

Status: current. Date: 31-Jan 2002

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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Fetal and/or neonatal period true Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Inbound Relationships Type Active Source Characteristic Refinability Group
Glycogen storage disease, type I Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Congenital infectious disease Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Hepatic glycogen phosphorylase kinase deficiency Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Focal nodular hypoplasia of liver Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Glycogen storage disease type III Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
A rare subtype of haemochromatosis characterised by the combination of pathogenic variants in two genes involved in iron metabolism (usually a combination of HFE and non-HFE mutations), where the classical HFE-related haemochromatosis is not enough to fully explain the clinical picture of the patient. Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 2
Hunter's syndrome, mild form Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 2
Joubert syndrome (disorder) Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 2
Congenital cystic disease of liver Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Intrahepatic biliary hypoplasia Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Nephronophthisis hepatic fibrosis syndrome (disorder) Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Nephronophthisis hepatic fibrosis syndrome (disorder) Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 2
Multiple malformation syndrome with facial defects as major feature Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Congenital disease Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Congenital syphilitic hepatomegaly Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Congenital syphilitic hepatomegaly Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 2
Congenital microhepatia Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder) Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 2
Sickling disorder due to hemoglobin S (disorder) Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Navajo neurohepatopathy Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Navajo neurohepatopathy Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 2
Cardiac glycogen phosphorylase kinase deficiency Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Depletion of mitochondrial DNA Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Abnormal connection of hepatic vein to atrium Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Abnormal connection of hepatic vein to atrium Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 2
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 2
Ectopic liver Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Liver in left sided position (disorder) Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Mitochondrial DNA depletion syndrome hepatocerebrorenal form Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Mitochondrial DNA depletion syndrome hepatocerebrorenal form Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 2
Mitochondrial DNA depletion syndrome hepatocerebrorenal form Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 3
Congenital hyperplasia of intrahepatic bile duct Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Congenital malposition of liver Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Congenital liver grooves Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Hepatic and muscle glycogen phosphorylase kinase deficiency Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 2
Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 3
Familial hypercholanemia (disorder) Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Inherited disorder of bilirubin metabolism Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 2
Hunter's syndrome, severe form Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Congenital anomaly of liver Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Glucose-6-phosphate transport defect Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Dubin-Johnson syndrome Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Hepatic vein to left atrium Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Hepatic vein to left atrium Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 2
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 2
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 3
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 4
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 5
Severe combined immunodeficiency with low T- and B-cell numbers Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Loss of single peroxisomal function Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Hepatic glycogen synthase deficiency (disorder) Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Hepatic glycogen synthase deficiency (disorder) Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 2
Trilobular liver Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Alpha-1-antitrypsin deficiency Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Arteriohepatic dysplasia Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Mucopolysaccharidosis, MPS-II Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Intrahepatic biliary atresia Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Disorder of mitochondrial respiratory chain complexes Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Congenital omphalocele Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Storage disease Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Hepatic vein to right atrium (disorder) Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Hepatic vein to right atrium (disorder) Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 2
Synthetic defect of bile acids Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Glycogen storage disease, type VI Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Accessory liver Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Congenital syphilis Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Supernumerary liver lobe Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Tetralogy of Fallot Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Tetralogy of Fallot Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 2
Tetralogy of Fallot Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 3
Tetralogy of Fallot Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 4
Congenital duplication of liver Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Liver in central position (disorder) Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Glycogen storage disease, muscular form Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Contiguous ABCD1 DXS1357E deletion syndrome (disorder) Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Contiguous ABCD1 DXS1357E deletion syndrome (disorder) Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 2
Glycogen phosphorylase kinase deficiency Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Disorder of peroxisomal function Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Congenital abnormal fusion of liver lobes Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Congenital hepatic fibrosis Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Congenital absence of lobe of liver Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Glycogen storage disease, type IV Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Bile acid coenzyme A ligase deficiency and defective amidation (disorder) Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Alpha-methylacyl-CoA racemase deficiency disorder Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Glycogen storage disease type IXB (disorder) Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Caroli disease (disorder) Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Congenital bacterial disorder Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Disorder of glycoprotein metabolism Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Glycogen storage disease type Ia (disorder) Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Agenesis of liver (disorder) Occurrence True Congenital Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1

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This concept is not in any reference sets

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