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1155842003: 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
7712161000241115 oligosaccharidose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

21 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Oligosaccharidosis (disorder) Is a Disorder of glycoprotein metabolism true Inferred relationship Some
Oligosaccharidosis (disorder) Occurrence Congenital true Inferred relationship Some 1
Oligosaccharidosis (disorder) Is a Disorder of lysosomal enzyme true Inferred relationship Some
Oligosaccharidosis (disorder) Is a Lysosomal storage disease (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Mannosidosis Is a True Oligosaccharidosis (disorder) Inferred relationship Some
Alpha-N-acetylgalactosaminidase deficiency Is a True Oligosaccharidosis (disorder) Inferred relationship Some
A very rare lysosomal storage disease with characteristics of developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity. Is a True Oligosaccharidosis (disorder) Inferred relationship Some
A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids. Is a True Oligosaccharidosis (disorder) Inferred relationship Some
A rare lysosomal storage disease characterized by widespread tissue buildup of glycolipids and oligosaccharides rich in fucose. Patients present with broad clinical characteristics such as intellectual disability, developmental delay associated with psychomotor regression and bone abnormalities, visceromegaly, hyperhidrosis, and dermatological abnormalities. Is a True Oligosaccharidosis (disorder) Inferred relationship Some
A lysosomal storage disease with characteristics of coarse facial features, macular cherry red spot, and dysostosis multiplex. Clinical presentation can be heterogeneous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form. Is a True Oligosaccharidosis (disorder) Inferred relationship Some
Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non-dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations. Is a True Oligosaccharidosis (disorder) Inferred relationship Some

This concept is not in any reference sets

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