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\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\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\Disorder of nervous system\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\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\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\Disorder of glycoprotein metabolism\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, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

86529018 Dysmorphic sialidosis, infantile form en Synonym Active Entire term case insensitive SNOMED CT core module

789943013 Dysmorphic sialidosis, infantile form (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dysmorphic sialidosis, infantile form	Is a	Dysmorphic sialidosis	true	Inferred relationship	Existential restriction modifier
Dysmorphic sialidosis, infantile form	Finding site	Structure of muscle tissue	false	Inferred relationship	Existential restriction modifier
Dysmorphic sialidosis, infantile form	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Dysmorphic sialidosis, infantile form	Associated morphology	Abnormally short growth	true	Inferred relationship	Existential restriction modifier	1
Dysmorphic sialidosis, infantile form	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier
Dysmorphic sialidosis, infantile form	Is a	Deformity	true	Inferred relationship	Existential restriction modifier
Dysmorphic sialidosis, infantile form	Finding site	Skeletal and/or smooth muscle structure	false	Inferred relationship	Existential restriction modifier
Dysmorphic sialidosis, infantile form	Finding site	Structure of nervous system	true	Inferred relationship	Existential restriction modifier	3
Dysmorphic sialidosis, infantile form	Is a	Congenital anomaly	false	Inferred relationship	Existential restriction modifier
Dysmorphic sialidosis, infantile form	Finding site	Structure of nervous system	false	Inferred relationship	Existential restriction modifier	1
Dysmorphic sialidosis, infantile form	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	1
Dysmorphic sialidosis, infantile form	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Dysmorphic sialidosis, infantile form	Finding site	Structure of musculoskeletal system	true	Inferred relationship	Existential restriction modifier	1
Dysmorphic sialidosis, infantile form	Interprets	Movement	true	Inferred relationship	Existential restriction modifier	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	Active	Entire term case insensitive	SNOMED CT core module
789943013	Dysmorphic sialidosis, infantile form (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module