FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

1263503005: Myoclonic disorder due to sialidosis (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5168953010 Myoclonic disorder due to sialidosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5168954016 Myoclonic disorder due to sialidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Myoclonic disorder due to sialidosis (disorder) Is a Myoclonic disorder true Inferred relationship Some
Myoclonic disorder due to sialidosis (disorder) Interprets mouvement false Inferred relationship Some 2
Myoclonic disorder due to sialidosis (disorder) Due to 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. true Inferred relationship Some 3
Myoclonic disorder due to sialidosis (disorder) Finding site Structure of nervous system (body structure) true Inferred relationship Some 1
Myoclonic disorder due to sialidosis (disorder) Interprets Movement observable true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start