783146009: NLR family pyrin domain containing 12-associated hereditary periodic fever 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\NLRP12-associated hereditary periodic fever 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\NLRP12-associated hereditary periodic fever syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Monogenic autoinflammatory syndrome\Hereditary periodic fever\NLRP12-associated hereditary periodic fever syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\NLRP12-associated hereditary periodic fever syndrome
• \Disease\Febrile illness\Hereditary periodic fever\NLRP12-associated hereditary periodic fever syndrome
• \Disease\Disorder of immune function\Autoinflammatory disease\Monogenic autoinflammatory syndrome\Hereditary periodic fever\NLRP12-associated hereditary periodic fever syndrome
• \Disease\Disorder of immune function\Hereditary disorder of immune system\Monogenic autoinflammatory syndrome\Hereditary periodic fever\NLRP12-associated hereditary periodic fever syndrome
• \Disease\Disorder of body system\Disorder of immune structure\Inflammatory disorder of immune system\Autoinflammatory disease\Monogenic autoinflammatory syndrome\Hereditary periodic fever\NLRP12-associated hereditary periodic fever syndrome
• \Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease\Monogenic autoinflammatory syndrome\Hereditary periodic fever\NLRP12-associated hereditary periodic fever syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Monogenic autoinflammatory syndrome\Hereditary periodic fever\NLRP12-associated hereditary periodic fever 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\NLRP12-associated hereditary periodic fever syndrome
• \Disease\Recurrent disease\Hereditary periodic fever\NLRP12-associated hereditary periodic fever syndrome

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3757832010	NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3757833017	NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3757834011	FCAS2 - familial cold autoinflammatory syndrome type 2	en	Synonym	Active	Case sensitive	SNOMED CT core
3757835012	NLRP12-associated hereditary periodic fever syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3757836013	Familial cold autoinflammatory syndrome type 2	en	Synonym	Active	Case insensitive	SNOMED CT core
3757839018	A rare autoinflammatory syndrome with characteristics of episodic and recurrent periods of fever combined with various systemic manifestations such as myalgia, arthralgia, joint swelling, urticaria, headache and skin rash. Common trigger of these episodes is cold. There is evidence the disease is caused by heterozygous mutation in the NLRP12 gene on chromosome 19q13.	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

Description inactivation indicator reference set

Back to Start