721847002: Joubert syndrome with congenital hepatic fibrosis (disorder)

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

\Viscus structure finding (finding)\Liver finding\Disease of liver\Structural abnormality of liver (disorder)\...

\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Joubert syndrome with congenital hepatic fibrosis (disorder)

\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with congenital hepatic fibrosis (disorder)

\Finding of trunk structure\Liver finding\Disease of liver\Structural abnormality of liver (disorder)\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Joubert syndrome with congenital hepatic fibrosis (disorder)
\Finding of trunk structure\Liver finding\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with congenital hepatic fibrosis (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Joubert syndrome with congenital hepatic fibrosis (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with congenital hepatic fibrosis (disorder)

\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Joubert syndrome (disorder)\Joubert syndrome with congenital hepatic fibrosis (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Joubert syndrome (disorder)\Joubert syndrome with congenital hepatic fibrosis (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with congenital hepatic fibrosis (disorder)
\Disease\Disorder of body system\Joubert syndrome (disorder)\Joubert syndrome with congenital hepatic fibrosis (disorder)
\Disease\Disorder of body system\Disease of liver\Structural abnormality of liver (disorder)\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Joubert syndrome with congenital hepatic fibrosis (disorder)
\Disease\Disorder of body system\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with congenital hepatic fibrosis (disorder)
\Disease\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Joubert syndrome with congenital hepatic fibrosis (disorder)
\Disease\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with congenital hepatic fibrosis (disorder)

Status: current. Date: 31-Jan 2017

Descriptions:

Id Description Lang Type Status Case? Module

3326243010 Joubert syndrome with congenital hepatic fibrosis (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3326244016 Joubert syndrome with hepatic defect en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3326245015 Joubert syndrome with congenital hepatic fibrosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3326246019 Cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, hepatic fibrosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3326247011 COACH syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3326248018 Gentile syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3326249014 A very rare subtype of Joubert syndrome with the neurological features of Joubert Syndrome and congenital hepatic fibrosis. Prevalence is unknown. The age of onset and severity of hepatic manifestations are variable. Some patients may also present chorioretinal or optic nerve colobomas and nephronophthisis but these are not mandatory features. Over 70% of cases are due to mutations in the TMEM67 gene (8q22.1). en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
3326250014 COACH (cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, hepatic fibrosis) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402712010 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). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402713017 Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterised by the neurological features of JS associated with congenital hepatic fibrosis (CHF). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Joubert syndrome with congenital hepatic fibrosis (disorder)	Is a	Joubert syndrome (disorder)	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Joubert syndrome with congenital hepatic fibrosis (disorder)	Is a	Congenital hepatic fibrosis	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Joubert syndrome with congenital hepatic fibrosis (disorder)	Associated morphology	Fibrosis	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Joubert syndrome with congenital hepatic fibrosis (disorder)	Occurrence	Congenital	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Joubert syndrome with congenital hepatic fibrosis (disorder)	Finding site	Liver structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Joubert syndrome with congenital hepatic fibrosis (disorder)	Pathological process (attribute)	Pathological developmental process	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Joubert syndrome with congenital hepatic fibrosis (disorder)	Associated morphology	Aplasia	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2
Joubert syndrome with congenital hepatic fibrosis (disorder)	Occurrence	Congenital	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2
Joubert syndrome with congenital hepatic fibrosis (disorder)	Finding site	Cerebellar vermis structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2
Joubert syndrome with congenital hepatic fibrosis (disorder)	Pathological process (attribute)	Pathological developmental process	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3326243010	Joubert syndrome with congenital hepatic fibrosis (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3326244016	Joubert syndrome with hepatic defect	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3326245015	Joubert syndrome with congenital hepatic fibrosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3326246019	Cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, hepatic fibrosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3326247011	COACH syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3326248018	Gentile syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3326249014	A very rare subtype of Joubert syndrome with the neurological features of Joubert Syndrome and congenital hepatic fibrosis. Prevalence is unknown. The age of onset and severity of hepatic manifestations are variable. Some patients may also present chorioretinal or optic nerve colobomas and nephronophthisis but these are not mandatory features. Over 70% of cases are due to mutations in the TMEM67 gene (8q22.1).	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
3326250014	COACH (cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, hepatic fibrosis) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402712010	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).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402713017	Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterised by the neurological features of JS associated with congenital hepatic fibrosis (CHF).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core