402790006: Hereditary periodic fever (disorder)

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

\Temperature-associated finding\Body temperature finding\Abnormal body temperature\Body temperature above reference range\Febrile disorder (disorder)\Hereditary periodic fever (disorder)

\Vital signs finding (finding)\Body temperature finding\Abnormal body temperature\Body temperature above reference range\Febrile disorder (disorder)\Hereditary periodic fever (disorder)

\Disease\Genetic disease\Monogenic autoinflammatory syndrome (disorder)\Hereditary periodic fever (disorder)
\Disease\Febrile disorder (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\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\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:

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

3706561000005113 hereditær periodisk feber da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary periodic fever (disorder)	Is a	hereditær inflammatorisk sygdom med involvering af huden	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	true	Inferred relationship	Some
Hereditary periodic fever (disorder)	Clinical course	Recurrent	true	Inferred relationship	Some	2
Hereditary periodic fever (disorder)	Is a	Febrile disorder (disorder)	true	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 (qualifier value)	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

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
A rare autoinflammatory disease and form of mevalonate kinase deficiency (MKD), characterised by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhoea, arthralgia and skin manifestations). The disease usually begins in the first year of life and rarely after 5 years of age. HIDS is an inherited syndrome caused by mutations in the mevalonate kinase (MVK) gene (12q24). These MVK mutations lead to reduced, but not abolished enzyme activity. This in turn leads to impaired control of the production of inflammatory mediators, which in turn cause inflammatory (fever) attacks. The disease follows an autosomal recessive pattern of inheritance.	Is a	True	Hereditary periodic fever (disorder)	Inferred relationship	Some
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.	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
A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular, and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum, and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections, and purulent upper respiratory tract infections have also been reported.	Is a	True	Hereditary periodic fever (disorder)	Inferred relationship	Some
A rare genetic systemic or rheumatologic disease characterized by neonatal or infantile onset of enterocolitis (which resolves with age), periodic fever, and episodes of severe systemic inflammation, which may be precipitated by infections, stress, or fatigue. Signs and symptoms include splenomegaly, urticaria-like rashes, arthralgia, and myalgia. Associated laboratory findings are elevated inflammatory markers (such as ferritin, C-reactive protein), pancytopenia, and elevated transaminases. If left untreated, flares can progress to coagulopathy, organ failure, and death.	Is a	True	Hereditary periodic fever (disorder)	Inferred relationship	Some
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.	Is a	True	Hereditary periodic fever (disorder)	Inferred relationship	Some
A rare hereditary periodic fever syndrome characterized by infantile or childhood onset of episodes of fever and cold-induced urticaria-like rash and arthralgias. Ocular features such as conjunctivitis and uveitis may also be present. Presentation is typically mild, and symptoms resolve without treatment in most cases.	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
A rare genetic autoinflammatory syndrome with skin involvement characterised by cold-induced urticarial rash without angioedema starting in infancy and systemic inflammation due to autosomal dominant mutations in the coagulation factor 12 (F-12) gene. In addition to cold-induced, non-pruritic urticarial rash, patients present with headache, mild to severe arthralgia, fatigue, subfebrile evening temperature, chills, and malaise. Systemic symptoms worsen during the cold season and over the years.	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
3706561000005113	hereditær periodisk feber	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)