52186006: Dysmorphic sialidosis (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of movement\Movement disorder\Myoclonic disorder\Sialidosis\Dysmorphic sialidosis

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Oligosaccharidosis\Sialidosis\Dysmorphic sialidosis
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Sialidosis\Dysmorphic sialidosis
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis\Sialidosis\Dysmorphic sialidosis
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucolipidosis\Sialidosis\Dysmorphic sialidosis
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Sialidosis\Dysmorphic sialidosis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Sialidosis\Dysmorphic sialidosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Sialidosis\Dysmorphic sialidosis
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Sialidosis\Dysmorphic sialidosis
\Disease\Disorder of body system\Neurological disorder\Myoclonic disorder\Sialidosis\Dysmorphic sialidosis
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Oligosaccharidosis\Sialidosis\Dysmorphic sialidosis
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Sialidosis\Dysmorphic sialidosis
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis\Sialidosis\Dysmorphic sialidosis
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucolipidosis\Sialidosis\Dysmorphic sialidosis
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis\Sialidosis\Dysmorphic sialidosis
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Mucolipidosis\Sialidosis\Dysmorphic sialidosis
\Disease\Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Oligosaccharidosis\Sialidosis\Dysmorphic sialidosis
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Sialidosis\Dysmorphic sialidosis
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis\Sialidosis\Dysmorphic sialidosis
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucolipidosis\Sialidosis\Dysmorphic sialidosis
\Disease\Movement disorder\Myoclonic disorder\Sialidosis\Dysmorphic sialidosis

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

790167011 Dysmorphic sialidosis (disorder) en Fully specified name Active Case insensitive SNOMED CT core

86860012 Dysmorphic sialidosis en Synonym Active Case insensitive SNOMED CT core

86861011 Sialidosis, type 2 en Synonym Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dysmorphic sialidosis	Interprets	Movement	true	Inferred relationship	Some	3
Dysmorphic sialidosis	Is a	Sialidosis	true	Inferred relationship	Some
Dysmorphic sialidosis	Finding site	Muscle structure	false	Inferred relationship	Some
Dysmorphic sialidosis	Finding site	Structure of nervous system	true	Inferred relationship	Some	2
Dysmorphic sialidosis	Finding site	Muscle tissue	false	Inferred relationship	Some
Dysmorphic sialidosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Dysmorphic sialidosis	Finding site	Brain structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Dysmorphic sialidosis, congenital form	Is a	True	Dysmorphic sialidosis	Inferred relationship	Some
Dysmorphic sialidosis, infantile form	Is a	True	Dysmorphic sialidosis	Inferred relationship	Some
Dysmorphic sialidosis with renal involvement	Is a	True	Dysmorphic sialidosis	Inferred relationship	Some
Dysmorphic sialidosis, juvenile form	Is a	True	Dysmorphic sialidosis	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
790167011	Dysmorphic sialidosis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
86860012	Dysmorphic sialidosis	en	Synonym	Active	Case insensitive	SNOMED CT core
86861011	Sialidosis, type 2	en	Synonym	Active	Case insensitive	SNOMED CT core