402790006: 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)

\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)

\Disease\Genetic disease\Monogenic autoinflammatory syndrome (disorder)\Hereditary periodic fever (disorder)
\Disease\Febrile disorder (disorder)\Periodic fever syndrome (disorder)\Hereditary periodic fever (disorder)
\Disease\Disorder of immune function (disorder)\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Hereditary periodic fever (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)
\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)
\Disease\Inflammatory disorder\Periodic fever syndrome (disorder)\Hereditary periodic fever (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)
\Disease\Recurrent disease\Periodic fever syndrome (disorder)\Hereditary periodic fever (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary periodic fever (disorder)	Is a	hereditaire inflammatoire aandoening met betrokkenheid van huid	false	Inferred relationship	Some
Hereditary periodic fever (disorder)	Is a	Monogenic autoinflammatory syndrome (disorder)	true	Inferred relationship	Some
Hereditary periodic fever (disorder)	Associated morphology	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Some	1
Hereditary periodic fever (disorder)	Is a	Recurrent disease	false	Inferred relationship	Some
Hereditary periodic fever (disorder)	Clinical course	Recurrent	true	Inferred relationship	Some	2
Hereditary periodic fever (disorder)	Is a	Febrile disorder (disorder)	false	Inferred relationship	Some
Hereditary periodic fever (disorder)	Associated with	Fever (finding)	false	Inferred relationship	Some	3
Hereditary periodic fever (disorder)	Interprets	Body temperature (observable entity)	true	Inferred relationship	Some	3
Hereditary periodic fever (disorder)	Has interpretation	Above reference range	true	Inferred relationship	Some	3
Hereditary periodic fever (disorder)	Is a	Chronic disease of immune function (disorder)	false	Inferred relationship	Some
Hereditary periodic fever (disorder)	Is a	Chronic disease of immune structure (disorder)	false	Inferred relationship	Some
Hereditary periodic fever (disorder)	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Some	1
Hereditary periodic fever (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	1
Hereditary periodic fever (disorder)	Is a	Periodic fever syndrome (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
TNF receptor-associated periodic fever syndrome (TRAPS)	Is a	True	Hereditary periodic fever (disorder)	Inferred relationship	Some
Hyperimmunoglobulinemia D with periodic fever (disorder)	Is a	True	Hereditary periodic fever (disorder)	Inferred relationship	Some
NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder)	Is a	True	Hereditary periodic fever (disorder)	Inferred relationship	Some
Familial Mediterranean fever	Is a	True	Hereditary periodic fever (disorder)	Inferred relationship	Some
Cryopyrin associated periodic syndrome (disorder)	Is a	True	Hereditary periodic fever (disorder)	Inferred relationship	Some
CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder)	Is a	True	Hereditary periodic fever (disorder)	Inferred relationship	Some
Periodic fever, infantile enterocolitis, autoinflammatory syndrome	Is a	True	Hereditary periodic fever (disorder)	Inferred relationship	Some
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder)	Is a	True	Hereditary periodic fever (disorder)	Inferred relationship	Some
NLR family caspase recruitment domain-containing 4-related familial cold autoinflammatory syndrome (disorder)	Is a	True	Hereditary periodic fever (disorder)	Inferred relationship	Some
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)	Is a	True	Hereditary periodic fever (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
1770714017	Hereditary periodic fever (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1781882019	Hereditary periodic fever	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6494281000146119	hereditair periodiekekoortssyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6494291000146117	erfelijk periodiekekoortssyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6494301000146118	hereditair periodiekekoortssyndroom (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)