783146009: NLRP12-geassocieerd hereditair periodiekekoortssyndroom (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Temperature-associated finding\Body temperature finding\Abnormal body temperature\Body temperature above reference range\Febrile disorder (disorder)\Periodic fever syndrome (disorder)\Hereditary periodic fever (disorder)\NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder)

\Vital signs finding\Body temperature finding\Abnormal body temperature\Body temperature above reference range\Febrile disorder (disorder)\Periodic fever syndrome (disorder)\Hereditary periodic fever (disorder)\NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder)

\Disease\Genetic disease\Monogenic autoinflammatory syndrome (disorder)\Hereditary periodic fever (disorder)\NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder)
\Disease\Febrile disorder (disorder)\Periodic fever syndrome (disorder)\Hereditary periodic fever (disorder)\NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder)
\Disease\Disorder of immune function (disorder)\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Hereditary periodic fever (disorder)\NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder)
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder)
\Disease\Disorder of body system\Disorder of immune structure (disorder)\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Hereditary periodic fever (disorder)\NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder)
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Hereditary periodic fever (disorder)\NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder)
\Disease\Inflammatory disorder\Periodic fever syndrome (disorder)\Hereditary periodic fever (disorder)\NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder)
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Hereditary periodic fever (disorder)\NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder)
\Disease\Recurrent disease\Periodic fever syndrome (disorder)\Hereditary periodic fever (disorder)\NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder)	Is a	Hereditary periodic fever (disorder)	true	Inferred relationship	Some
NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder)	Associated morphology	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Some	1
NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder)	Clinical course	Recurrent	true	Inferred relationship	Some	2
NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder)	Associated with	Fever (finding)	false	Inferred relationship	Some	3
NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder)	Interprets	Body temperature (observable entity)	true	Inferred relationship	Some	3
NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder)	Has interpretation	Above reference range	true	Inferred relationship	Some	3
NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder)	Is a	Hereditary disorder of immune system	true	Inferred relationship	Some
NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder)	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Some	1
NLR family pyrin domain containing 12-associated hereditary periodic fever 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

Description inactivation indicator reference set

Back to Start

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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3757833017	NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3757834011	FCAS2 - familial cold autoinflammatory syndrome type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3757835012	NLRP12-associated hereditary periodic fever syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3757836013	Familial cold autoinflammatory syndrome type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
10688951000146116	'familial cold autoinflammatory syndrome' type 2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10688961000146118	NLRP12-geassocieerd hereditair periodiekekoortssyndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10688971000146112	familiair koudegeïnduceerd auto-inflammatoir syndroom type 2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10688981000146114	NLRP12-geassocieerd hereditair periodiekekoortssyndroom (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10688991000146111	NLRP12-geassocieerde periodieke koorts	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10689001000146111	FCAS2	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	SNOMED CT core