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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

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 (disorder) 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
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 Some
Fucosidosis is an extremely rare lysosomal storage disorder with characteristics of a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis. 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 heterogenous 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
A lysosomal storage disease, belonging to the group of oligosaccharidosis or with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease with characteristics of 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 (see this term) the more severe, early onset form, with characteristics of 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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