238045003: Disorder of glycoprotein metabolism (disorder)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of glycoprotein metabolism

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

356821016 Disorder of glycoprotein metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626872018 Disorder of glycoprotein metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3037447012 Glycoprotein metabolism disorder 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
Disorder of glycoprotein metabolism	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Disorder of glycoprotein metabolism	Finding site	Body system structure	false	Inferred relationship	Some
Disorder of glycoprotein metabolism	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Alpha-N-acetylgalactosaminidase deficiency	Is a	False	Disorder of glycoprotein metabolism	Inferred relationship	Some
Carbohydrate-deficient glycoprotein syndrome	Is a	True	Disorder of glycoprotein metabolism	Inferred relationship	Some
Alpha-2-antitrypsin deficiency	Is a	True	Disorder of glycoprotein metabolism	Inferred relationship	Some
Alpha-1-antitrypsin deficiency	Is a	True	Disorder of glycoprotein metabolism	Inferred relationship	Some
Sialidosis	Is a	False	Disorder of glycoprotein metabolism	Inferred relationship	Some
Aspartylglucosaminuria	Is a	False	Disorder of glycoprotein metabolism	Inferred relationship	Some
Fucosidosis	Is a	False	Disorder of glycoprotein metabolism	Inferred relationship	Some
Mannosidosis	Is a	False	Disorder of glycoprotein metabolism	Inferred relationship	Some
I-cell disease	Is a	True	Disorder of glycoprotein metabolism	Inferred relationship	Some
Glycoprotein storage disorder	Is a	True	Disorder of glycoprotein metabolism	Inferred relationship	Some
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (disorder)	Is a	True	Disorder of glycoprotein metabolism	Inferred relationship	Some
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)	Is a	True	Disorder of glycoprotein metabolism	Inferred relationship	Some
Larsen-like syndrome B3GAT3 type	Is a	True	Disorder of glycoprotein metabolism	Inferred relationship	Some
N-glycanase 1 congenital disorder of deglycosylation (disorder)	Is a	True	Disorder of glycoprotein metabolism	Inferred relationship	Some
Temtamy preaxial brachydactyly syndrome	Is a	True	Disorder of glycoprotein metabolism	Inferred relationship	Some
Reunion Island Larsen-like syndrome	Is a	False	Disorder of glycoprotein metabolism	Inferred relationship	Some
Oligosaccharidosis (disorder)	Is a	True	Disorder of glycoprotein metabolism	Inferred relationship	Some

This concept is not in any reference sets