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79607001: Congenital hepatic fibrosis (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
132070012 Congenital hepatic fibrosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
820676011 Congenital hepatic fibrosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4650351000241112 fibrose hépatique congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3421221001000111 Leberfibrose, isolierte, kongenitale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital hepatic fibrosis Is a Congenital anomaly of liver true Inferred relationship Some
Congenital hepatic fibrosis Is a Perinatal disorders of liver and/or biliary system (disorder) false Inferred relationship Some
Congenital hepatic fibrosis Is a Hepatic fibrosis true Inferred relationship Some
Congenital hepatic fibrosis Associated morphology Fibrosis true Inferred relationship Some 1
Congenital hepatic fibrosis Finding site Liver structure false Inferred relationship Some 2
Congenital hepatic fibrosis Associated morphology anomalie du développement false Inferred relationship Some 1
Congenital hepatic fibrosis Associated morphology Nodular regeneration false Inferred relationship Some 2
Congenital hepatic fibrosis Finding site Digestive system subdivision false Inferred relationship Some
Congenital hepatic fibrosis Occurrence Perinatal state false Inferred relationship Some
Congenital hepatic fibrosis Finding site Liver structure false Inferred relationship Some 3
Congenital hepatic fibrosis Associated morphology Fibrosis false Inferred relationship Some 3
Congenital hepatic fibrosis Occurrence Congenital false Inferred relationship Some
Congenital hepatic fibrosis Finding site Liver structure false Inferred relationship Some 1
Congenital hepatic fibrosis Associated morphology anomalie congénitale false Inferred relationship Some 2
Congenital hepatic fibrosis Occurrence période périnatale false Inferred relationship Some
Congenital hepatic fibrosis Finding site Digestive organ structure false Inferred relationship Some 1
Congenital hepatic fibrosis Finding site Liver structure false Inferred relationship Some 2
Congenital hepatic fibrosis Finding site Liver structure false Inferred relationship Some 4
Congenital hepatic fibrosis Finding site Liver structure false Inferred relationship Some 4
Congenital hepatic fibrosis Finding site Liver structure false Inferred relationship Some 3
Congenital hepatic fibrosis Finding site Digestive system subdivision false Inferred relationship Some
Congenital hepatic fibrosis Finding site Liver structure false Inferred relationship Some 1
Congenital hepatic fibrosis Finding site Liver structure false Inferred relationship Some 4
Congenital hepatic fibrosis Finding site Liver structure false Inferred relationship Some 2
Congenital hepatic fibrosis Occurrence Congenital false Inferred relationship Some
Congenital hepatic fibrosis Finding site Liver structure false Inferred relationship Some 1
Congenital hepatic fibrosis Finding site Liver structure false Inferred relationship Some 2
Congenital hepatic fibrosis Finding site Liver structure false Inferred relationship Some 1
Congenital hepatic fibrosis Finding site Liver structure false Inferred relationship Some 2
Congenital hepatic fibrosis Finding site Liver structure false Inferred relationship Some 1
Congenital hepatic fibrosis Finding site Liver structure false Inferred relationship Some 2
Congenital hepatic fibrosis Finding site Liver structure false Inferred relationship Some 1
Congenital hepatic fibrosis Finding site Liver structure false Inferred relationship Some 2
Congenital hepatic fibrosis Finding site Liver structure true Inferred relationship Some 1
Congenital hepatic fibrosis Finding site Liver structure false Inferred relationship Some 2
Congenital hepatic fibrosis Is a Congenital anomaly of abdomen false Inferred relationship Some
Congenital hepatic fibrosis Is a Congenital anomaly of body cavity false Inferred relationship Some
Congenital hepatic fibrosis Occurrence Congenital false Inferred relationship Some 3
Congenital hepatic fibrosis Associated morphology anomalie du développement false Inferred relationship Some 3
Congenital hepatic fibrosis Finding site Liver structure false Inferred relationship Some 3
Congenital hepatic fibrosis Is a Congenital disease false Inferred relationship Some
Congenital hepatic fibrosis Associated morphology Fibrosis false Inferred relationship Some 2
Congenital hepatic fibrosis Occurrence Congenital false Inferred relationship Some 2
Congenital hepatic fibrosis Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital hepatic fibrosis Occurrence Congenital true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare ciliopathy characterized by the association of nephronophthisis and liver fibrosis. Renal manifestations include chronic renal failure, polyuria, polydipsia, anemia, as well as increased echogenicity on renal ultrasound and interstitial fibrosis and tubular dilation on biopsy. Hepatic involvement manifests as hepatosplenomegaly with extensive fibrosis, destruction of the bile ducts, and cholestasis. Mild psychomotor retardation and ocular symptoms, such as strabismus, nystagmus, retinal degeneration, and anisocoria, have been reported in some patients. Is a True Congenital hepatic fibrosis 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 True Congenital hepatic fibrosis 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 True Congenital hepatic fibrosis Inferred relationship Some
NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly. Is a True Congenital hepatic fibrosis Inferred relationship Some
Congenital cystic disease of liver Is a True Congenital hepatic fibrosis Inferred relationship Some
A rare genetic hepatic disease characterized by multiple segmental cystic dilatations of both central and smaller peripheral bile ducts associated with congenital hepatic fibrosis. Age of symptom onset is variable, as is disease progression. Patients present recurrent cholangitis, hepatolithiasis, and cholecystolithiasis. Portal hypertension may appear later in the disease course, and the risk of developing cholangiocarcinoma is increased significantly. The syndrome is often associated with autosomal recessive polycystic kidney disease. Is a True Congenital hepatic fibrosis Inferred relationship Some

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