51984006: Dysmorphic sialidosis, infantile form (disorder)

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

\Deformity (finding)\Dysmorphic sialidosis, infantile form

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\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\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, infantile form
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\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\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, infantile form
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Myoclonic disorder\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, infantile form
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Dysmorphic sialidosis, infantile form
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\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\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, infantile form
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucolipidosis\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, infantile form
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, infantile form
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Mucolipidosis\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, infantile form
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\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 (disorder)\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, infantile form
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, infantile form
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, infantile form
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucolipidosis\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, infantile form
\Disease\Congenital disease (disorder)\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, infantile form
\Disease\Congenital disease (disorder)\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, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dysmorphic sialidosis, infantile form	Is a	Dysmorphic sialidosis	true	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
Dysmorphic sialidosis, infantile form	Is a	Deformity (finding)	true	Inferred relationship	Some
Dysmorphic sialidosis, infantile form	Finding site	Skeletal and/or smooth muscle structure (body structure)	false	Inferred relationship	Some
Dysmorphic sialidosis, infantile form	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	3
Dysmorphic sialidosis, infantile form	Is a	Congenital anomaly	false	Inferred relationship	Some
Dysmorphic sialidosis, infantile form	Finding site	Structure of nervous system (body structure)	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 (body structure)	true	Inferred relationship	Some	1
Dysmorphic sialidosis, infantile form	Interprets	Movement	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
86529018	Dysmorphic sialidosis, infantile form	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
789943013	Dysmorphic sialidosis, infantile form (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7667371000172111	sialidose dysmorphique infantile	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5542021000172112	infantiele vorm van dysmorfe sialidose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5542031000172110	infantiele vorm van sialidose type 2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5542041000172115	infantiele dysmorfe sialidose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)