52186006: dysmorfe sialidose (aandoening)

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

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

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

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	Is a	Sialidosis	true	Inferred relationship	Some
Dysmorphic sialidosis	Finding site	Muscle tissue	false	Inferred relationship	Some
Dysmorphic sialidosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Dysmorphic sialidosis	Finding site	Brain structure	false	Inferred relationship	Some
Dysmorphic sialidosis	Finding site	Skeletal and/or smooth muscle structure (body structure)	false	Inferred relationship	Some
Dysmorphic sialidosis	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	2
Dysmorphic sialidosis	Interprets	Movement	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Dysmorphic sialidosis, juvenile form	Is a	True	Dysmorphic sialidosis	Inferred relationship	Some
Dysmorphic sialidosis, congenital form	Is a	True	Dysmorphic sialidosis	Inferred relationship	Some
Dysmorphic sialidosis, infantile form	Is a	True	Dysmorphic sialidosis	Inferred relationship	Some
Dysmorphic sialidosis with renal involvement	Is a	True	Dysmorphic sialidosis	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
86860012	Dysmorphic sialidosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
86861011	Sialidosis, type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
790167011	Dysmorphic sialidosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6458641000146114	dysmorfe sialidose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6458651000146112	dysmorfe sialidose (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6458661000146110	sialidose type 2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)