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79607001: Congenital hepatic fibrosis (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Abdominal organ finding\Liver finding\Disease of liver\...

\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis

\Congenital anomaly of liver\Congenital hepatic fibrosis

\Digestive system finding (finding)\Liver finding\Disease of liver\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis
\Digestive system finding (finding)\Liver finding\Disease of liver\Congenital anomaly of liver\Congenital hepatic fibrosis
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Congenital anomaly of liver\Congenital hepatic fibrosis
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis

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

1431591000005119 Kongenit leverfibrose da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

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	dysgenese	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	kongenit anomali	false	Inferred relationship	Some	2
Congenital hepatic fibrosis	Occurrence	Perinatalperiode	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	dysgenese	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
A rare syndromic intellectual disability characterised 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, tachypnoea. There have been no further descriptions in the literature since 1987.	Is a	True	Congenital hepatic fibrosis	Inferred relationship	Some
A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.	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

This concept is not in any reference sets

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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
1431591000005119	Kongenit leverfibrose	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)