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765435009: OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3658499011 Otulipenia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3658500019 OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3658501015 OTULIN (OTU deubiquitinase with linear linkage specificity) related autoinflammatory syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3658502010 OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3658503017 OTULIN-related autoinflammatory syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3658504011 Infantile-onset periodic fever, panniculitis, dermatosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404539015 A rare genetic autoinflammatory syndrome characterized by early-onset of repeated episodes of fever, nodular neutrophil-rich panniculitis, arthralgia, and lipodystrophy. Additional reported features include diarrhea, failure to thrive, lymphadenopathy, and vasculitis. Laboratory examination may reveal elevated serum C-reactive protein and leukocytosis with neutrophilia in the absence of infection. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404540018 A rare genetic autoinflammatory syndrome characterised by early-onset of repeated episodes of fever, nodular neutrophil-rich panniculitis, arthralgia, and lipodystrophy. Additional reported features include diarrhoea, failure to thrive, lymphadenopathy, and vasculitis. Laboratory examination may reveal elevated serum C-reactive protein and leucocytosis with neutrophilia in the absence of infection. 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
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) Finding site Structure of immune system (body structure) true Inferred relationship Some 1
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) Is a Congenital disease (disorder) false Inferred relationship Some
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) Occurrence Congenital false Inferred relationship Some 1
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) Associated morphology Inflammation false Inferred relationship Some 1
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) Is a Inflammatory disorder of immune system false Inferred relationship Some
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) Is a Hereditary disorder by system false Inferred relationship Some
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) Associated morphology Inflammatory morphology (morphologic abnormality) true Inferred relationship Some 1
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) Is a Hereditary disorder of immune system true Inferred relationship Some
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) Is a Hereditary periodic fever (disorder) true Inferred relationship Some
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) Clinical course Recurrent true Inferred relationship Some 3
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) Interprets Body temperature (observable entity) true Inferred relationship Some 2
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) Has interpretation Above reference range true Inferred relationship Some 2
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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