51984006: Dysmorphic sialidosis, infantile form (disorder)

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

\Deformity (finding)\Dysmorphic sialidosis, infantile form (disorder)

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

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

\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 (disorder)
\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 (disorder)
\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 (disorder)
\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 (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, infantile form (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Dysmorphic sialidosis, infantile form (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, infantile form (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, infantile form (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, infantile form (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, infantile form (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucolipidosis\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, infantile form (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, infantile form (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Disorder of lysosomal enzyme\Mucolipidosis\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, infantile form (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, infantile form (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Dysmorphic sialidosis, infantile form (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, infantile form (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Myoclonic disorder\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, infantile form (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Dysmorphic sialidosis, infantile form (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, infantile form (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, infantile form (disorder)
\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 (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucolipidosis\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, infantile form (disorder)
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, infantile form (disorder)
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Mucolipidosis\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, infantile form (disorder)
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, infantile form (disorder)
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Mucolipidosis\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, infantile form (disorder)
\Disease\Movement disorder\Myoclonic disorder\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, infantile form (disorder)

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 (disorder)	Is a	Dysmorphic sialidosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysmorphic sialidosis, infantile form (disorder)	Finding site	Muscle tissue	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysmorphic sialidosis, infantile form (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysmorphic sialidosis, infantile form (disorder)	Associated morphology	Abnormally short growth	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysmorphic sialidosis, infantile form (disorder)	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysmorphic sialidosis, infantile form (disorder)	Is a	Deformity (finding)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysmorphic sialidosis, infantile form (disorder)	Finding site	Skeletal and/or smooth muscle structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysmorphic sialidosis, infantile form (disorder)	Finding site	Nervous system structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Dysmorphic sialidosis, infantile form (disorder)	Is a	Congenital anomaly	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysmorphic sialidosis, infantile form (disorder)	Finding site	Nervous system structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysmorphic sialidosis, infantile form (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysmorphic sialidosis, infantile form (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysmorphic sialidosis, infantile form (disorder)	Finding site	Structure of musculoskeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysmorphic sialidosis, infantile form (disorder)	Interprets	Movement	true	Inferred relationship	Existential restriction modifier (core metadata concept)	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
86529018	Dysmorphic sialidosis, infantile form	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
24031000077111	sialidose dysmorphique, forme infantile	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
24031000077111	sialidose dysmorphique, forme infantile	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module