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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
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
3658516017 Disease with characteristics of abnormal inflammation throughout the body. The uncontrolled inflammation can damage body tissue and organs, including the gastrointestinal system, joints and skin. Onset is usually within the first few weeks of life with recurring episodes of fever, diarrhoea, painful, swollen joints and skin rash. Lipodystrophy is present in some individuals. Caused by mutation in the OTULIN gene, the protein produced from this gene helps control inflammation. Inherited in an autosomal recessive pattern. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3658517014 Disease with characteristics of abnormal inflammation throughout the body. The uncontrolled inflammation can damage body tissue and organs, including the gastrointestinal system, joints and skin. Onset is usually within the first few weeks of life with recurring episodes of fever, diarrhea, painful, swollen joints and skin rash. Lipodystrophy is present in some individuals. Caused by mutation in the OTULIN gene, the protein produced from this gene helps control inflammation. Inherited in an autosomal recessive pattern. en Definition Active Entire term case sensitive (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
3387091001000111 Periodisches Fieber mit Beginn im Kindesalter-Pannikulitis-Dermatose-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3387091001000111 Periodisches Fieber mit Beginn im Kindesalter-Pannikulitis-Dermatose-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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 Existential restriction modifier (core metadata concept) 1
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) Is a Congenital disease false Inferred relationship Existential restriction modifier (core metadata concept)
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) Associated morphology inflammation false Inferred relationship Existential restriction modifier (core metadata concept) 1
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) Is a Inflammatory disorder of immune system false Inferred relationship Existential restriction modifier (core metadata concept)
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) Is a Hereditary disorder by system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) Associated morphology Inflammatory morphology (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) Is a Hereditary disorder of immune system true Inferred relationship Existential restriction modifier (core metadata concept)
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) Is a Hereditary periodic fever (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) Clinical course Recurrent (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) Interprets Body temperature (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 2
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 2
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 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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