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829973009: Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3880144018 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3880145017 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3880146016 A rare genetic mixed autoinflammatory and autoimmune syndrome with characteristics of chronic systemic autoinflammation (presenting as recurrent fever in the neonatal or infantile period) and combined immunodeficiency (manifesting as recurrent viral and invasive bacterial infections). Muscular amylopectinosis may be subclinical or be complicated by myopathy/cardiomyopathy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis est un(e) (attribut) affection d'un muscle squelettique true Inferred relationship Some
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis est un(e) (attribut) Combined immunodeficiency disease true Inferred relationship Some
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis est un(e) (attribut) Inflammatory disorder false Inferred relationship Some
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis est un(e) (attribut) Hereditary disorder of immune system true Inferred relationship Some
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis est un(e) (attribut) maladie chronique de l'appareil locomoteur true Inferred relationship Some
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis est un(e) (attribut) maladie chronique de la fonction immunitaire true Inferred relationship Some
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 1
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis morphologie associée (attribut) Inflammatory morphology (morphologic abnormality) true Inferred relationship Some 1
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis évolution clinique (attribut) chronique true Inferred relationship Some 2
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis localisation d'une constatation (attribut) structure de muscle squelettique true Inferred relationship Some 3
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis est un(e) (attribut) maladie chronique d'une structure immunitaire true Inferred relationship Some
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis est un(e) (attribut) Autoinflammatory disease (disorder) true Inferred relationship Some
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis est un(e) (attribut) Autoimmune disease true Inferred relationship Some
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis Pathological process (attribute) Autoimmune process true Inferred relationship Some 4
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis localisation d'une constatation (attribut) structure du système immunitaire true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

US English

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