1155842003: Oligosaccharidosis (disorder)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\...

\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)

\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)

\Disorder of foetus and/or newborn\Congenital disease\...

\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)
\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)

\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)
\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4570363011 Oligosaccharidosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4570364017 Oligosaccharidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4570363011 Oligosaccharidosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4570364017 Oligosaccharidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Oligosaccharidosis (disorder)	Is a	Disorder of glycoprotein metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Oligosaccharidosis (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oligosaccharidosis (disorder)	Is a	Disorder of lysosomal enzyme	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Oligosaccharidosis (disorder)	Is a	Lysosomal storage disease (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mannosidosis	Is a	True	Oligosaccharidosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Alpha-N-acetylgalactosaminidase deficiency	Is a	True	Oligosaccharidosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Beta-D-mannosidosis	Is a	True	Oligosaccharidosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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.	Is a	True	Oligosaccharidosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Fucosidosis	Is a	True	Oligosaccharidosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Combined deficiency of sialidase AND beta galactosidase	Is a	True	Oligosaccharidosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Sialidosis	Is a	True	Oligosaccharidosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets