27642008: congenitale dysmorfe sialidose (aandoening)

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, congenital form
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, congenital 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, congenital 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, congenital 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, congenital form
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Dysmorphic sialidosis, congenital form
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, congenital form
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Dysmorphic sialidosis, congenital form
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Dysmorphic sialidosis, congenital form
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, congenital form
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, congenital form
\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\Dysmorphic sialidosis, congenital form
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucolipidosis\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, congenital form
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, congenital form
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Disorder of lysosomal enzyme\Mucolipidosis\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, congenital 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, congenital form
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Dysmorphic sialidosis, congenital 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, congenital form
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Myoclonic disorder\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, congenital form
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, congenital form
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, congenital form
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, congenital form
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucolipidosis\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, congenital form
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, congenital form
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Mucolipidosis\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, congenital form
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, congenital form
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Mucolipidosis\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, congenital form
\Disease\Movement disorder\Myoclonic disorder\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, congenital form
\Disease\Developmental disorder\Developmental hereditary disorder\Dysmorphic sialidosis, congenital form
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Dysmorphic sialidosis, congenital 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, congenital form	Is a	Dysmorphic sialidosis	true	Inferred relationship	Some
Dysmorphic sialidosis, congenital form	Finding site	Muscle tissue	false	Inferred relationship	Some
Dysmorphic sialidosis, congenital form	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	1
Dysmorphic sialidosis, congenital form	Finding site	Brain structure	false	Inferred relationship	Some
Dysmorphic sialidosis, congenital form	Occurrence	Congenital	false	Inferred relationship	Some	2
Dysmorphic sialidosis, congenital form	Finding site	Skeletal and/or smooth muscle structure (body structure)	false	Inferred relationship	Some
Dysmorphic sialidosis, congenital form	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	3
Dysmorphic sialidosis, congenital form	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Dysmorphic sialidosis, congenital form	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Dysmorphic sialidosis, congenital form	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Dysmorphic sialidosis, congenital form	Occurrence	Congenital	true	Inferred relationship	Some	1
Dysmorphic sialidosis, congenital form	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Dysmorphic sialidosis, congenital form	Is a	Congenital anomaly of nervous system	true	Inferred relationship	Some
Dysmorphic sialidosis, congenital form	Interprets	Movement	true	Inferred relationship	Some	2

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
46272012	Dysmorphic sialidosis, congenital form	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
758233019	Dysmorphic sialidosis, congenital form (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6458701000146117	congenitale vorm van dysmorfe sialidose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6755971000146112	congenitale dysmorfe sialidose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6755981000146114	congenitale dysmorfe sialidose (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6912671000146113	aangeboren vorm van 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)