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

1723231000005114 Normosomatisk sialidose da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

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