54954004: Aspartylglucosaminuria (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Musculoskeletal disorder\...

\Hereditary disorder of musculoskeletal system\Aspartylglucosaminuria

\Disorder of skeletal system\Aspartylglucosaminuria

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\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\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Aspartylglucosaminuria
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Aspartylglucosaminuria
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Aspartylglucosaminuria
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\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\Glycoprotein metabolism disorder\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, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1231386017 Aspartylglycosylaminase deficiency en Synonym Active Case insensitive SNOMED CT core

793242016 Aspartylglucosaminuria (disorder) en Fully specified name Active Case insensitive SNOMED CT core

91352015 Aspartylglucosaminuria en Synonym Active Case insensitive SNOMED CT core

91353013 Aspartylglycosaminuria en Synonym Active Case insensitive SNOMED CT core

91354019 Aspartylglucosaminidase deficiency en Synonym Active Case insensitive SNOMED CT core

5155240019 An autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group. Clinical signs include slowly developing intellectual disability beginning with clumsiness, late speech, and hyperkinesia, mild facial dysmorphism, and slight kyphoscoliosis. Caused by mutations in gene AGU located on 4q34.3. Transmission is autosomal recessive. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1231386017	Aspartylglycosylaminase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
793242016	Aspartylglucosaminuria (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
91352015	Aspartylglucosaminuria	en	Synonym	Active	Case insensitive	SNOMED CT core
91353013	Aspartylglycosaminuria	en	Synonym	Active	Case insensitive	SNOMED CT core
91354019	Aspartylglucosaminidase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
5155240019	An autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group. Clinical signs include slowly developing intellectual disability beginning with clumsiness, late speech, and hyperkinesia, mild facial dysmorphism, and slight kyphoscoliosis. Caused by mutations in gene AGU located on 4q34.3. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core