81896006: Dysmorphic sialidosis with renal involvement (disorder)

SNOMED CT Concept\constatation clinique\...

\Viscus structure finding (finding)\constatation à propos d'un organe abdominal\Kidney finding\Kidney disease\...

\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement

\maladie métabolique du rein\Dysmorphic sialidosis with renal involvement

\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\maladie métabolique du rein\Dysmorphic sialidosis with renal involvement
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\maladie métabolique du rein\Dysmorphic sialidosis with renal involvement
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\Kidney finding\Kidney disease\maladie métabolique du rein\Dysmorphic sialidosis with renal involvement
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\maladie métabolique du rein\Dysmorphic sialidosis with renal involvement
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\maladie métabolique du rein\Dysmorphic sialidosis with renal involvement
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\maladie métabolique du rein\Dysmorphic sialidosis with renal involvement
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\maladie métabolique du rein\Dysmorphic sialidosis with renal involvement
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\maladie métabolique du rein\Dysmorphic sialidosis with renal involvement
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\maladie métabolique du rein\Dysmorphic sialidosis with renal involvement
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement

\constatation à propos du mouvement\Movement disorder\Myoclonic disorder\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis with renal involvement

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis with renal involvement
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis with renal involvement
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Inherited metabolic disorder of nervous system\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis with renal involvement
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis with renal involvement
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucolipidosis\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis with renal involvement
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis with renal involvement
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis with renal involvement
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis with renal involvement
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Myoclonic disorder\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis with renal involvement
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\maladie métabolique du rein\Dysmorphic sialidosis with renal involvement
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\maladie métabolique du rein\Dysmorphic sialidosis with renal involvement
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\maladie métabolique du rein\Dysmorphic sialidosis with renal involvement
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\Disease\trouble métabolique\maladie métabolique du rein\Dysmorphic sialidosis with renal involvement
\Disease\trouble métabolique\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis with renal involvement
\Disease\trouble métabolique\Inborn error of metabolism\Inherited metabolic disorder of nervous system\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis with renal involvement
\Disease\trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis with renal involvement
\Disease\trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucolipidosis\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis with renal involvement
\Disease\trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis with renal involvement
\Disease\trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\Mucolipidosis\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis with renal involvement
\Disease\Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis with renal involvement
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis with renal involvement
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis with renal involvement
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucolipidosis\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis with renal involvement
\Disease\Movement disorder\Myoclonic disorder\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis with renal involvement

Status: current, Not 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

135852018 Dysmorphic sialidosis with renal involvement en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

135853011 Nephrosialidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

823217018 Dysmorphic sialidosis with renal involvement (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dysmorphic sialidosis with renal involvement	interprète (attribut)	Movement (observable entity)	true	Inferred relationship	Some	4
Dysmorphic sialidosis with renal involvement	est un(e) (attribut)	maladie métabolique du rein	true	Inferred relationship	Some
Dysmorphic sialidosis with renal involvement	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Dysmorphic sialidosis with renal involvement	localisation d'une constatation (attribut)	système nerveux	true	Inferred relationship	Some	3
Dysmorphic sialidosis with renal involvement	est un(e) (attribut)	Kidney disease	false	Inferred relationship	Some
Dysmorphic sialidosis with renal involvement	est un(e) (attribut)	Congenital anomaly of trunk	false	Inferred relationship	Some
Dysmorphic sialidosis with renal involvement	est un(e) (attribut)	Dysmorphic sialidosis (disorder)	true	Inferred relationship	Some
Dysmorphic sialidosis with renal involvement	est un(e) (attribut)	Hereditary disorder of the urinary system	false	Inferred relationship	Some
Dysmorphic sialidosis with renal involvement	localisation d'une constatation (attribut)	Muscle structure	false	Inferred relationship	Some
Dysmorphic sialidosis with renal involvement	localisation d'une constatation (attribut)	système nerveux	false	Inferred relationship	Some	2
Dysmorphic sialidosis with renal involvement	est un(e) (attribut)	Hereditary nephropathy (disorder)	true	Inferred relationship	Some
Dysmorphic sialidosis with renal involvement	localisation d'une constatation (attribut)	Muscle tissue	false	Inferred relationship	Some
Dysmorphic sialidosis with renal involvement	localisation d'une constatation (attribut)	structure de l'encéphale	false	Inferred relationship	Some
Dysmorphic sialidosis with renal involvement	localisation d'une constatation (attribut)	structure d'un rein	true	Inferred relationship	Some	1
Dysmorphic sialidosis with renal involvement	survenue (attribut)	congénital	false	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets