763891005: Renal hepatic pancreatic dysplasia (disorder)

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

\Viscus structure finding (finding)\Liver finding\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Renal hepatic pancreatic dysplasia (disorder)

\Finding of trunk structure\Liver finding\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Renal hepatic pancreatic dysplasia (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Renal hepatic pancreatic dysplasia (disorder)

\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Renal hepatic pancreatic dysplasia (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital anomaly of liver\Renal hepatic pancreatic dysplasia (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Multiple system malformation syndrome\Renal hepatic pancreatic dysplasia (disorder)
\Disease\Disorder of body system\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Renal hepatic pancreatic dysplasia (disorder)
\Disease\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Renal hepatic pancreatic dysplasia (disorder)

Status: current. Date: 31-Jul 2018

Descriptions:

Id Description Lang Type Status Case? Module

3645159011 Renal hepatic pancreatic dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3645160018 Renal hepatic pancreatic dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3645161019 Ivemark II syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3645162014 Renohepaticopancreatic dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3645163016 A rare genetic developmental defect during embryogenesis syndrome with 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-dependant diabetes. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5404268018 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404269014 Renal-hepatic-pancreatic dysplasia is a rare, genetic, developmental defect during embryogenesis syndrome characterised 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. 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
Renal hepatic pancreatic dysplasia (disorder)	Is a	Multiple system malformation syndrome	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Renal hepatic pancreatic dysplasia (disorder)	Is a	Autosomal recessive hereditary disorder	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Renal hepatic pancreatic dysplasia (disorder)	Is a	Congenital anomaly of liver	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Renal hepatic pancreatic dysplasia (disorder)	Associated morphology	Fibrosis	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Renal hepatic pancreatic dysplasia (disorder)	Occurrence	Congenital	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Renal hepatic pancreatic dysplasia (disorder)	Finding site	Pancreatic structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Renal hepatic pancreatic dysplasia (disorder)	Pathological process (attribute)	Pathological developmental process	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Renal hepatic pancreatic dysplasia (disorder)	Associated morphology	Polycystic change	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2
Renal hepatic pancreatic dysplasia (disorder)	Occurrence	Congenital	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2
Renal hepatic pancreatic dysplasia (disorder)	Finding site	Kidney structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2
Renal hepatic pancreatic dysplasia (disorder)	Pathological process (attribute)	Pathological developmental process	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2
Renal hepatic pancreatic dysplasia (disorder)	Associated morphology	Morphologically abnormal structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	3
Renal hepatic pancreatic dysplasia (disorder)	Occurrence	Congenital	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	3
Renal hepatic pancreatic dysplasia (disorder)	Finding site	Structure of parenchyma of liver	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	3
Renal hepatic pancreatic dysplasia (disorder)	Pathological process (attribute)	Pathological developmental process	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	3

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
3645159011	Renal hepatic pancreatic dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3645160018	Renal hepatic pancreatic dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3645161019	Ivemark II syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3645162014	Renohepaticopancreatic dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3645163016	A rare genetic developmental defect during embryogenesis syndrome with 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-dependant diabetes.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404268018	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404269014	Renal-hepatic-pancreatic dysplasia is a rare, genetic, developmental defect during embryogenesis syndrome characterised 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core