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89166001: Congenital anomaly of liver (disorder)

Status: current, 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
147860019 Congenital anomaly of liver en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
832002010 Congenital anomaly of liver (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1235430011 Congenital malformation of liver en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4681631000241112 anomalie congénitale du foie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

51 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of liver Is a Disease of liver true Inferred relationship Some
Congenital anomaly of liver Is a Congenital abnormality of liver and/or biliary tract (disorder) true Inferred relationship Some
Congenital anomaly of liver Is a Congenital anomaly of digestive organ (disorder) false Inferred relationship Some
Congenital anomaly of liver Occurrence Congenital false Inferred relationship Some
Congenital anomaly of liver Finding site Digestive organ structure false Inferred relationship Some 1
Congenital anomaly of liver Associated morphology anomalie du développement false Inferred relationship Some 1
Congenital anomaly of liver Finding site Liver structure true Inferred relationship Some 1
Congenital anomaly of liver Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of liver Finding site Structure of digestive system (body structure) false Inferred relationship Some 1
Congenital anomaly of liver Is a Congenital anomaly of digestive tract false Inferred relationship Some
Congenital anomaly of liver Occurrence Congenital false Inferred relationship Some
Congenital anomaly of liver Is a Lesion of liver false Inferred relationship Some
Congenital anomaly of liver Finding site Liver structure false Inferred relationship Some 1
Congenital anomaly of liver Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of liver Occurrence Congenital false Inferred relationship Some 2
Congenital anomaly of liver Associated morphology anomalie du développement false Inferred relationship Some 2
Congenital anomaly of liver Finding site Liver structure false Inferred relationship Some 2
Congenital anomaly of liver Occurrence Congenital true Inferred relationship Some 1
Congenital anomaly of liver Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Congenital anomaly of liver Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital atrophy of left lobe of liver Is a False Congenital anomaly of liver Inferred relationship Some
Intrahepatic biliary atresia Is a False Congenital anomaly of liver Inferred relationship Some
Trilobular liver Is a True Congenital anomaly of liver Inferred relationship Some
Ectopic liver Is a True Congenital anomaly of liver Inferred relationship Some
Focal nodular hypoplasia of liver Is a True Congenital anomaly of liver Inferred relationship Some
Intrahepatic biliary hypoplasia Is a False Congenital anomaly of liver Inferred relationship Some
Congenital liver grooves Is a False Congenital anomaly of liver Inferred relationship Some
Gilbert's syndrome Is a False Congenital anomaly of liver Inferred relationship Some
Congenital absence of liver Is a True Congenital anomaly of liver Inferred relationship Some
Congenital hyperplasia of intrahepatic bile duct Is a False Congenital anomaly of liver Inferred relationship Some
Congenital hepatomegaly Is a True Congenital anomaly of liver Inferred relationship Some
Glycogen storage disease type VIII Is a False Congenital anomaly of liver Inferred relationship Some
Hepatic methionine adenosyltransferase deficiency Is a False Congenital anomaly of liver Inferred relationship Some
Glycogen storage disease, hepatic form Is a False Congenital anomaly of liver Inferred relationship Some
Glycogenosis with glucoaminophosphaturia Is a True Congenital anomaly of liver Inferred relationship Some
Accessory liver Is a True Congenital anomaly of liver Inferred relationship Some
Glycogen storage disease, type I Is a False Congenital anomaly of liver Inferred relationship Some
Congenital cystic disease of liver Is a False Congenital anomaly of liver Inferred relationship Some
Accessory hepatic duct Is a False Congenital anomaly of liver Inferred relationship Some
Congenital duplication of liver Is a False Congenital anomaly of liver Inferred relationship Some
Congenital hepatic fibrosis Is a True Congenital anomaly of liver Inferred relationship Some
Arteriovenous malformation of liver Is a True Congenital anomaly of liver Inferred relationship Some
Microhepatia Is a True Congenital anomaly of liver Inferred relationship Some
Congenital abnormal fusion of liver lobes Is a True Congenital anomaly of liver Inferred relationship Some
Congenital abnormal shape of liver Is a True Congenital anomaly of liver Inferred relationship Some
Congenital malposition of liver Is a True Congenital anomaly of liver Inferred relationship Some
Congenital microhepatia Is a True Congenital anomaly of liver Inferred relationship Some
Supernumerary liver lobe Is a False Congenital anomaly of liver Inferred relationship Some
Congenital floating liver Is a False Congenital anomaly of liver Inferred relationship Some
Liver hyperplasia Is a True Congenital anomaly of liver Inferred relationship Some
Liver hamartoma Is a False Congenital anomaly of liver Inferred relationship Some
Abnormal liver lobulation Is a True Congenital anomaly of liver Inferred relationship Some
Congenital cystic liver disease Is a False Congenital anomaly of liver Inferred relationship Some
Liver anomaly, unspecified Is a False Congenital anomaly of liver Inferred relationship Some
[X]Other congenital malformations of liver Is a False Congenital anomaly of liver Inferred relationship Some
Other congenital anomaly of liver Is a False Congenital anomaly of liver Inferred relationship Some
Dubin-Johnson syndrome Is a True Congenital anomaly of liver Inferred relationship Some
Congenital abnormality of hepatic vein (disorder) Is a True Congenital anomaly of liver Inferred relationship Some
Intrahepatic biliary hypoplasia Is a True Congenital anomaly of liver Inferred relationship Some
Intrahepatic biliary atresia Is a True Congenital anomaly of liver Inferred relationship Some
Congenital dilatation of lobar intrahepatic bile duct Is a True Congenital anomaly of liver Inferred relationship Some
Congenital hyperplasia of intrahepatic bile duct Is a True Congenital anomaly of liver Inferred relationship Some
Arteriohepatic dysplasia Is a True Congenital anomaly of liver Inferred relationship Some
A rare multiple congenital malformation syndrome, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicoureteral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastroesophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. An overlap with Kabuki syndrome is debated. Is a True Congenital anomaly of liver Inferred relationship Some
Renal-hepatic-pancreatic dysplasia is a rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendency to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependent diabetes. Is a True Congenital anomaly of liver Inferred relationship Some
Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF). Is a False Congenital anomaly of liver Inferred relationship Some
Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987. Is a False Congenital anomaly of liver Inferred relationship Some
Congenital absence of lobe of liver Is a False Congenital anomaly of liver Inferred relationship Some
polykystose hépatique autosomique dominante Is a False Congenital anomaly of liver Inferred relationship Some
Congenital paucity of intrahepatic bile ducts (disorder) Is a True Congenital anomaly of liver Inferred relationship Some

This concept is not in any reference sets

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