81896006: Dysmorphic sialidosis with renal involvement (disorder)

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

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

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

\Metabolic renal disease\Dysmorphic sialidosis with renal involvement

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Metabolic renal disease\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Metabolic renal disease\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Metabolic renal disease\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding (finding)\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding (finding)\Kidney finding\Kidney disease\Metabolic renal disease\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding (finding)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding (finding)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding (finding)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Metabolic renal disease\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement

\Finding of movement\Movement disorder\Myoclonic disorder\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis with renal involvement

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis with renal involvement
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis with renal involvement
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis with renal involvement
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucolipidosis\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis with renal involvement
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis with renal involvement
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis with renal involvement
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis with renal involvement
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis with renal involvement
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis with renal involvement
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucolipidosis\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis with renal involvement
\Disease\Disorder of foetus and/or newborn\Congenital disease\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis with renal involvement
\Disease\Disorder of foetus and/or newborn\Congenital disease\Disorder of lysosomal enzyme\Mucolipidosis\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis with renal involvement
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis with renal involvement
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis with renal involvement
\Disease\Disorder of body system\Disease of nervous system (disorder)\Myoclonic disorder\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis with renal involvement
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Dysmorphic sialidosis with renal involvement
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Metabolic renal disease\Dysmorphic sialidosis with renal involvement
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Dysmorphic sialidosis with renal involvement
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Dysmorphic sialidosis with renal involvement
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Dysmorphic sialidosis with renal involvement
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis with renal involvement
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis with renal involvement
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis with renal involvement
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucolipidosis\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis with renal involvement
\Disease\Metabolic disease\Metabolic renal disease\Dysmorphic sialidosis with renal involvement
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis with renal involvement
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Mucolipidosis\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis with renal involvement
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis with renal involvement
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Mucolipidosis\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis with renal involvement
\Disease\Movement disorder\Myoclonic disorder\Sialidosis\Dysmorphic sialidosis\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

135852018 Dysmorphic sialidosis with renal involvement en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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 Only initial character 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 Only initial character 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

6090281000241119 nephrosialidose dysmorphique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6090291000241117 sialidose dysmorphique avec atteinte du rein fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6090301000241118 sialidose dysmorphique avec atteinte rénale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6090281000241119 nephrosialidose dysmorphique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6090291000241117 sialidose dysmorphique avec atteinte du rein fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6090301000241118 sialidose dysmorphique avec atteinte rénale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dysmorphic sialidosis with renal involvement	Is a	Kidney disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysmorphic sialidosis with renal involvement	Is a	Congenital anomaly of trunk	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysmorphic sialidosis with renal involvement	Is a	Dysmorphic sialidosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysmorphic sialidosis with renal involvement	Is a	Hereditary disorder of the urinary system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysmorphic sialidosis with renal involvement	Finding site	Muscle tissue	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysmorphic sialidosis with renal involvement	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysmorphic sialidosis with renal involvement	Finding site	Kidney structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysmorphic sialidosis with renal involvement	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Dysmorphic sialidosis with renal involvement	Finding site	Skeletal and/or smooth muscle structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysmorphic sialidosis with renal involvement	Finding site	Nervous system structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysmorphic sialidosis with renal involvement	Is a	Hereditary nephropathy (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysmorphic sialidosis with renal involvement	Interprets	Movement	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Dysmorphic sialidosis with renal involvement	Is a	Metabolic renal disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysmorphic sialidosis with renal involvement	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysmorphic sialidosis with renal involvement	Finding site	Nervous system structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets