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

• SNOMED CT Concept\Clinical finding\...
• \General finding of observation of patient\Temperature-associated finding\Body temperature finding\Abnormal body temperature\Body temperature above reference range\Febrile illness\Hereditary periodic fever\OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome
• \General finding of observation of patient\General body state finding\Vital signs finding\Body temperature finding\Abnormal body temperature\Body temperature above reference range\Febrile illness\Hereditary periodic fever\OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Monogenic autoinflammatory syndrome\Hereditary periodic fever\OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome
• \Disease\Febrile illness\Hereditary periodic fever\OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome
• \Disease\Disorder of immune function\Autoinflammatory disease\Monogenic autoinflammatory syndrome\Hereditary periodic fever\OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome
• \Disease\Disorder of immune function\Hereditary disorder of immune system\Monogenic autoinflammatory syndrome\Hereditary periodic fever\OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome
• \Disease\Disorder of body system\Disorder of immune structure\Inflammatory disorder of immune system\Autoinflammatory disease\Monogenic autoinflammatory syndrome\Hereditary periodic fever\OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome
• \Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease\Monogenic autoinflammatory syndrome\Hereditary periodic fever\OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Monogenic autoinflammatory syndrome\Hereditary periodic fever\OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome
• \Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease\Monogenic autoinflammatory syndrome\Hereditary periodic fever\OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome
• \Disease\Recurrent disease\Hereditary periodic fever\OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3658499011	Otulipenia	en	Synonym	Active	Case insensitive	SNOMED CT core
3658500019	OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3658501015	OTULIN (OTU deubiquitinase with linear linkage specificity) related autoinflammatory syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3658502010	OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3658503017	OTULIN-related autoinflammatory syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3658504011	Infantile-onset periodic fever, panniculitis, dermatosis syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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