54954004: Aspartylglucosaminuria (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Hereditary disorder of musculoskeletal system\Aspartylglucosaminuria

\Disorder of skeletal system\Aspartylglucosaminuria

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis\Aspartylglucosaminuria
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Aspartylglucosaminuria
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis\Aspartylglucosaminuria
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Aspartylglucosaminuria
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Aspartylglucosaminuria
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Aspartylglucosaminuria
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Aspartylglucosaminuria
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Aspartylglucosaminuria
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Aspartylglucosaminuria
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Aspartylglucosaminuria
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Aspartylglucosaminuria
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis\Aspartylglucosaminuria
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Aspartylglucosaminuria
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis\Aspartylglucosaminuria
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis\Aspartylglucosaminuria
\Disease\Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis\Aspartylglucosaminuria
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Aspartylglucosaminuria
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis\Aspartylglucosaminuria

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

91352015 Aspartylglucosaminuria en Synonym Active Entire term case insensitive SNOMED CT core module

91353013 Aspartylglycosaminuria en Synonym Active Entire term case insensitive SNOMED CT core module

91354019 Aspartylglucosaminidase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

793242016 Aspartylglucosaminuria (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

1231386017 Aspartylglycosylaminase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Aspartylglucosaminuria	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Aspartylglucosaminuria	Is a	Dysostosis multiplex group	false	Inferred relationship	Existential restriction modifier
Aspartylglucosaminuria	Is a	Disorder of glycoprotein metabolism	false	Inferred relationship	Existential restriction modifier
Aspartylglucosaminuria	Associated morphology	Dysplasia	false	Inferred relationship	Existential restriction modifier	1
Aspartylglucosaminuria	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier	1
Aspartylglucosaminuria	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Aspartylglucosaminuria	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Aspartylglucosaminuria	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Aspartylglucosaminuria	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Aspartylglucosaminuria	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Aspartylglucosaminuria	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Aspartylglucosaminuria	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Aspartylglucosaminuria	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Aspartylglucosaminuria	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	1
Aspartylglucosaminuria	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Aspartylglucosaminuria	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Aspartylglucosaminuria	Is a	Oligosaccharidosis	true	Inferred relationship	Existential restriction modifier
Aspartylglucosaminuria	Finding site	Structure of nervous system	true	Inferred relationship	Existential restriction modifier	3
Aspartylglucosaminuria	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Aspartylglucosaminuria	Is a	Disorder of skeletal system	true	Inferred relationship	Existential restriction modifier
Aspartylglucosaminuria	Finding site	Skeletal system structure	true	Inferred relationship	Existential restriction modifier	2
Aspartylglucosaminuria	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
91352015	Aspartylglucosaminuria	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
91353013	Aspartylglycosaminuria	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
91354019	Aspartylglucosaminidase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
793242016	Aspartylglucosaminuria (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
1231386017	Aspartylglycosylaminase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module