722294004: autosomaal dominante intermediaire hereditaire motorische en sensorische neuropathie type E (aandoening)

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

\Viscus structure finding (finding)\Abdominal organ finding\Kidney finding\Kidney disease\...

\Hereditary nephropathy (disorder)\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)

\Disorder of renal parenchyma (disorder)\Glomerular disease\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Kidney finding\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3331478015 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3331479011 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3331480014 Charcot-Marie-Tooth disease with nephropathy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

6380881000146116 autosomaal dominante intermediaire hereditaire motorische en sensorische neuropathie type E nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6380901000146118 autosomaal dominante intermediaire hereditaire motorische en sensorische neuropathie type E (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6380921000146114 autosomaal dominante intermediaire ziekte van Charcot-Marie-Tooth type E nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6381621000146110 DI-HMSN E nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6381631000146112 DI-CMT E nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3331481013 Syndrome with the association of Charcot-Marie-Tooth disease and nephropathy. So far, around 15 cases have been described. All patients had proteinuria at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. Caused by heterozygous mutation in the INF2 gene on chromosome 14q32. 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
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)	Is a	Congenital disease (disorder)	false	Inferred relationship	Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)	Is a	Glomerular disease	true	Inferred relationship	Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)	Is a	Hereditary motor and sensory neuropathy (disorder)	true	Inferred relationship	Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)	Is a	Hereditary nephropathy (disorder)	true	Inferred relationship	Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	1
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)	Finding site	Glomerulus structure	false	Inferred relationship	Some	2
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)	Finding site	Glomerulus structure	true	Inferred relationship	Some	2
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)	Is a	Congenital neurological disorder (disorder)	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets