54954004: Aspartylglucosaminuria (disorder)

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

\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\...

\Hereditary disorder of musculoskeletal system\A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.

\Disorder of skeletal system\A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.

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
A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.	Is a	Dysostosis multiplex group	false	Inferred relationship	Some
A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.	Is a	Disorder of glycoprotein metabolism	false	Inferred relationship	Some
A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.	Occurrence	Congenital	false	Inferred relationship	Some
A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.	Finding site	Bone structure	false	Inferred relationship	Some	1
A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.	Finding site	Bone structure	false	Inferred relationship	Some	1
A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.	Occurrence	Congenital	false	Inferred relationship	Some	2
A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.	Finding site	Bone structure	false	Inferred relationship	Some	2
A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.	Occurrence	Congenital	true	Inferred relationship	Some	1
A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.	Is a	Oligosaccharidosis (disorder)	true	Inferred relationship	Some
A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	3
A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.	Is a	Disorder of skeletal system	true	Inferred relationship	Some
A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.	Finding site	Skeletal system structure	true	Inferred relationship	Some	2
A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some

Inbound Relationships

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Active

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Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
5454067012	A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5454068019	A rare oligosaccharidosis characterized by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
91352015	Aspartylglucosaminuria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
91353013	Aspartylglycosaminuria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
91354019	Aspartylglucosaminidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
793242016	Aspartylglucosaminuria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1231386017	Aspartylglycosylaminase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
874671000172113	déficit en aspartylglucosaminidase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
983341000172114	aspartylglucosaminurie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3437361001000116	Aspartylglukosaminurie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module