81896006: Dysmorphic sialidosis with renal involvement (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Hereditary nephropathy\Dysmorphic sialidosis with renal involvement

\Metabolic renal disease\Dysmorphic sialidosis with renal involvement

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Metabolic renal disease\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the 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\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\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 of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Metabolic renal disease\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Metabolic renal disease\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the 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\Urogenital finding\Urinary system finding\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the 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\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Metabolic renal disease\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Dysmorphic sialidosis with renal involvement
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the 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 of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\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\Glycoprotein metabolism disorder\Oligosaccharidosis\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\Disorder of lysosomal enzyme\Oligosaccharidosis\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis with renal involvement
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucolipidosis\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis with renal involvement
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Dysmorphic sialidosis with renal involvement
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\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 body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Dysmorphic sialidosis with renal involvement
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis with renal involvement
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis with renal involvement
\Disease\Disorder of body system\Neurological disorder\Myoclonic disorder\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis with renal involvement
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Dysmorphic sialidosis with renal involvement
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Dysmorphic sialidosis with renal involvement
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Dysmorphic sialidosis with renal involvement
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Dysmorphic sialidosis with renal involvement
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Metabolic renal disease\Dysmorphic sialidosis with renal involvement
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Dysmorphic sialidosis with renal involvement
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Dysmorphic sialidosis with renal involvement
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Dysmorphic sialidosis with renal involvement
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Oligosaccharidosis\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\Disorder of lysosomal enzyme\Oligosaccharidosis\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis with renal involvement
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucolipidosis\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis with renal involvement
\Disease\Metabolic disease\Metabolic renal disease\Dysmorphic sialidosis with renal involvement
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis\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\Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Oligosaccharidosis\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis with renal involvement
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis with renal involvement
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis with renal involvement
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\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, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

135852018 Dysmorphic sialidosis with renal involvement en Synonym Active Case insensitive SNOMED CT core

135853011 Nephrosialidosis en Synonym Active Case insensitive SNOMED CT core

823217018 Dysmorphic sialidosis with renal involvement (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dysmorphic sialidosis with renal involvement	Interprets	Movement	true	Inferred relationship	Some	4
Dysmorphic sialidosis with renal involvement	Is a	Metabolic renal disease	true	Inferred relationship	Some
Dysmorphic sialidosis with renal involvement	Occurrence	Congenital	true	Inferred relationship	Some	2
Dysmorphic sialidosis with renal involvement	Finding site	Structure of nervous system	true	Inferred relationship	Some	3
Dysmorphic sialidosis with renal involvement	Is a	Kidney disease	false	Inferred relationship	Some
Dysmorphic sialidosis with renal involvement	Is a	Congenital anomaly of trunk	false	Inferred relationship	Some
Dysmorphic sialidosis with renal involvement	Is a	Dysmorphic sialidosis	true	Inferred relationship	Some
Dysmorphic sialidosis with renal involvement	Is a	Hereditary disorder of the urinary system	false	Inferred relationship	Some
Dysmorphic sialidosis with renal involvement	Finding site	Muscle structure	false	Inferred relationship	Some
Dysmorphic sialidosis with renal involvement	Finding site	Structure of nervous system	false	Inferred relationship	Some	2
Dysmorphic sialidosis with renal involvement	Is a	Hereditary nephropathy	true	Inferred relationship	Some
Dysmorphic sialidosis with renal involvement	Finding site	Muscle tissue	false	Inferred relationship	Some
Dysmorphic sialidosis with renal involvement	Finding site	Brain structure	false	Inferred relationship	Some
Dysmorphic sialidosis with renal involvement	Finding site	Kidney structure	true	Inferred relationship	Some	1
Dysmorphic sialidosis with renal involvement	Occurrence	Congenital	false	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set