51984006: Dysmorphic sialidosis, infantile form (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Dysmorphic sialidosis, infantile form

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

\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Dysmorphic sialidosis, infantile form

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

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

Descriptions:

Id Description Lang Type Status Case? Module

789943013 Dysmorphic sialidosis, infantile form (disorder) en Fully specified name Active Case insensitive SNOMED CT core

86529018 Dysmorphic sialidosis, infantile form en Synonym Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dysmorphic sialidosis, infantile form	Finding site	Structure of nervous system	false	Inferred relationship	Some	1
Dysmorphic sialidosis, infantile form	Occurrence	Congenital	false	Inferred relationship	Some	1
Dysmorphic sialidosis, infantile form	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Dysmorphic sialidosis, infantile form	Finding site	Structure of musculoskeletal system	true	Inferred relationship	Some	1
Dysmorphic sialidosis, infantile form	Interprets	Movement	true	Inferred relationship	Some	4
Dysmorphic sialidosis, infantile form	Is a	Dysmorphic sialidosis	true	Inferred relationship	Some
Dysmorphic sialidosis, infantile form	Is a	Deformity	true	Inferred relationship	Some
Dysmorphic sialidosis, infantile form	Finding site	Muscle structure	false	Inferred relationship	Some
Dysmorphic sialidosis, infantile form	Finding site	Structure of nervous system	true	Inferred relationship	Some	3
Dysmorphic sialidosis, infantile form	Is a	Congenital anomaly	false	Inferred relationship	Some
Dysmorphic sialidosis, infantile form	Finding site	Muscle tissue	false	Inferred relationship	Some
Dysmorphic sialidosis, infantile form	Occurrence	Congenital	true	Inferred relationship	Some	2
Dysmorphic sialidosis, infantile form	Associated morphology	Abnormally short growth	true	Inferred relationship	Some	1
Dysmorphic sialidosis, infantile form	Finding site	Brain structure	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
789943013	Dysmorphic sialidosis, infantile form (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
86529018	Dysmorphic sialidosis, infantile form	en	Synonym	Active	Case insensitive	SNOMED CT core