34960006: Normosomatic sialidosis (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

58343014 Normosomatic sialidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

766545016 Normosomatic sialidosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Normosomatic sialidosis	Is a	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.	false	Inferred relationship	Some
Normosomatic sialidosis	Finding site	Muscle tissue	false	Inferred relationship	Some
Normosomatic sialidosis	Finding site	Brain structure	false	Inferred relationship	Some
Normosomatic sialidosis	Occurrence	Congenital	false	Inferred relationship	Some
Normosomatic sialidosis	Finding site	Skeletal and/or smooth muscle structure (body structure)	false	Inferred relationship	Some
Normosomatic sialidosis	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some

Inbound Relationships

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Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)