27642008: Dysmorphic sialidosis, congenital form (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of movement\Movement disorder\Myoclonic disorder\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, congenital form

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

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

Descriptions:

Id Description Lang Type Status Case? Module

46272012 Dysmorphic sialidosis, congenital form en Synonym Active Case insensitive SNOMED CT core

758233019 Dysmorphic sialidosis, congenital form (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, congenital form	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Dysmorphic sialidosis, congenital form	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Dysmorphic sialidosis, congenital form	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Dysmorphic sialidosis, congenital form	Occurrence	Congenital	true	Inferred relationship	Some	1
Dysmorphic sialidosis, congenital form	Finding site	Structure of nervous system	true	Inferred relationship	Some	1
Dysmorphic sialidosis, congenital form	Is a	Congenital anomaly of nervous system	true	Inferred relationship	Some
Dysmorphic sialidosis, congenital form	Interprets	Movement	true	Inferred relationship	Some	2
Dysmorphic sialidosis, congenital form	Is a	Dysmorphic sialidosis	true	Inferred relationship	Some
Dysmorphic sialidosis, congenital form	Finding site	Muscle structure	false	Inferred relationship	Some
Dysmorphic sialidosis, congenital form	Finding site	Structure of nervous system	false	Inferred relationship	Some	3
Dysmorphic sialidosis, congenital form	Finding site	Muscle tissue	false	Inferred relationship	Some
Dysmorphic sialidosis, congenital form	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	1
Dysmorphic sialidosis, congenital form	Finding site	Brain structure	false	Inferred relationship	Some
Dysmorphic sialidosis, congenital form	Occurrence	Congenital	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

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
46272012	Dysmorphic sialidosis, congenital form	en	Synonym	Active	Case insensitive	SNOMED CT core
758233019	Dysmorphic sialidosis, congenital form (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core