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238045003: Disorder of glycoprotein metabolism (disorder)

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
356821016 Disorder of glycoprotein metabolism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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
5021661000241110 trouble du métabolisme des glycoprotéines fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5021661000241110 trouble du métabolisme des glycoprotéines fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

88 descendants. Search Descendants:

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 Existential restriction modifier (core metadata concept)
Disorder of glycoprotein metabolism Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of glycoprotein metabolism Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Alpha-N-acetylgalactosaminidase deficiency Is a False Disorder of glycoprotein metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Carbohydrate-deficient glycoprotein syndrome Is a True Disorder of glycoprotein metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Alpha-2-antitrypsin deficiency Is a True Disorder of glycoprotein metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Alpha-1-antitrypsin deficiency (disorder) Is a True Disorder of glycoprotein metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Sialidosis Is a False Disorder of glycoprotein metabolism 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 False Disorder of glycoprotein metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Fucosidosis Is a False Disorder of glycoprotein metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Mannosidosis Is a False Disorder of glycoprotein metabolism Inferred relationship Existential restriction modifier (core metadata concept)
I-cell disease (disorder) Is a True Disorder of glycoprotein metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Glycoprotein storage disorder Is a True Disorder of glycoprotein metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (disorder) Is a True Disorder of glycoprotein metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) Is a True Disorder of glycoprotein metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Is a True Disorder of glycoprotein metabolism Inferred relationship Existential restriction modifier (core metadata concept)
N-glycanase 1 congenital disorder of deglycosylation (disorder) Is a True Disorder of glycoprotein metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Temtamy preaxial brachydactyly syndrome (disorder) Is a True Disorder of glycoprotein metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Reunion Island Larsen-like syndrome Is a False Disorder of glycoprotein metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Oligosaccharidosis (disorder) Is a True Disorder of glycoprotein metabolism Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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