periodic fever syndrome
Enable an agent to describe, distinguish and track a periodic fever syndrome while preserving uncertainty about its subtype, diagnostic basis and implications for care.
Bundle → Layer → Finding → Questions Filled
6 bundles · 11 layers · 19 findings · 29 questions
Syndrome boundary and attribution Defines what the umbrella label means in this record and how it relates to narrower syndromes and symptom labels.
Umbrella meaning
Establishes the inclusion boundary of the registered thing.
Recurrent fever versus syndrome
Record the evidence that supports a syndrome attribution beyond recurrent fever alone.
- Which sourced definition governs the use of periodic fever syndrome here? definition
- What evidence supports this syndrome label rather than an unresolved recurrent-fever symptom label? boundary
Subtype and coding
Maintains narrower clinical attributions and versioned terminology relationships.
Qualified subtype mapping
Represent subtype and coding assignments with their scope, source and certainty rather than assuming a single universal code.
- Is the attribution to an umbrella syndrome, a named subtype or an unresolved group of candidates? boundary
- Which ICD or SNOMED CT edition, release and jurisdiction support each mapping, and is it exact or broader than the clinical attribution? provenance
Attack and interval phenotype Describes the repeating clinical pattern and what happens between attacks.
Attack timing
Captures fever documentation, attack boundaries and recurrence variability.
Observed recurrence pattern
Derive the temporal phenotype from dated observations while retaining missing data and uncertain attack boundaries.
- How were fever, attack onset and attack resolution measured or reported? measurement
- What are the observed attack durations and onset-to-onset intervals, and how much do they vary? measurement
Manifestations and intervals
Separates recurring attack features from persistent symptoms or inflammation.
Phase-linked clinical pattern
Link manifestations and laboratory results to attack phase instead of flattening them into a timeless symptom list.
- Which oral, pharyngeal, lymph-node, skin, serosal, joint or eye manifestations recur together during documented attacks? measurement
- Between attacks, which symptoms and inflammatory markers normalise, persist or remain unmeasured? measurement
Diagnostic evidence and competing explanations Makes clinical reasoning, criteria use and unresolved alternatives inspectable.
Criteria basis
Records the intended use and applicability of each criteria set.
Versioned criteria assessment
Distinguish diagnostic reasoning from research classification and preserve assessed, absent and unknown criteria.
- Which issuing body, publication and revision define the criteria used, and are they diagnostic or classification criteria? provenance
- Which criteria are met, not met or unassessed, and does the criteria set apply to this age group and presentation? boundary
Alternative explanations
Tracks evidence for other causes of recurrent or apparently periodic fever.
Differential resolution
Record clinician assessment of alternatives, including recurrent infection and cyclic neutropenia, without equating an absent test with exclusion.
- Which infectious, haematological, malignant, autoimmune or other explanations were considered, and what evidence supports their current status? provenance
- What change in the fever pattern or associated findings requires renewed clinical assessment of those alternatives? action
Aetiology, inheritance and population context Represents proposed causal attribution and the limits of familial, molecular and epidemiological evidence.
Familial and molecular evidence
Connects family patterns and genetic reports to qualified subtype hypotheses.
Causal evidence interpretation
Retain the distinction between a detected variant, its laboratory classification and its clinical explanatory value.
- What family history and molecular findings support the proposed subtype or inheritance pattern? provenance
- How were negative results, uncertain variants, test limitations and phenotype compatibility interpreted by the responsible clinician? boundary
Onset and population context
Places onset and epidemiological claims within explicitly defined populations.
Contextualised occurrence
Keep population-level occurrence estimates separate from individual diagnostic evidence.
- What was the age at first compatible attack, and how reliable is that onset history? measurement
- For any prevalence claim, which subtype definition, population, geography, study year and ascertainment method were used? provenance
Course, consequences and management state Tracks longitudinal burden and the evidence underlying clinician-directed actions.
Longitudinal course
Tracks changes in attacks, interval inflammation and functional impact.
Activity and consequences
Record observed course and subtype-relevant complications without assigning a uniform progression to the umbrella condition.
- Over a defined interval, how have attack frequency, attack days, interval inflammation and daily functioning changed? measurement
- Which complications, including AA amyloidosis where relevant, warrant surveillance for the attributed subtype, and what source supports that relevance? provenance
Management and reassessment
Links recorded interventions and response assessments to clinical authority and subtype assumptions.
Qualified management response
Represent treatment intent, observed response and reassessment conditions without treating response as automatic diagnostic proof.
- What clinician-authorised plan applies to attacks, prevention and monitoring, and which subtype attribution supports it? action
- How were benefit, adverse effects and nonresponse assessed, and what findings trigger review of the diagnosis or plan? action
Evidence and external alignment What the world already says about this thing, gathered so the model can be checked against it.
Reported evidence
Findings from the breadth pass, kept separate from the structural claims.
Check these first
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these check these first hold for the sense of periodic fever syndrome this model covers, and on what evidence? provenance
Kinds and varieties
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these kinds and varieties hold for the sense of periodic fever syndrome this model covers, and on what evidence? provenance
Identifiers and schemes
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these identifiers and schemes hold for the sense of periodic fever syndrome this model covers, and on what evidence? provenance
Standards and regulation
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these standards and regulation hold for the sense of periodic fever syndrome this model covers, and on what evidence? provenance
Real-world use
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these real-world use hold for the sense of periodic fever syndrome this model covers, and on what evidence? provenance
Typical measurements
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these typical measurements hold for the sense of periodic fever syndrome this model covers, and on what evidence? provenance
Failure modes and hazards
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these failure modes and hazards hold for the sense of periodic fever syndrome this model covers, and on what evidence? provenance
Regional variation
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these regional variation hold for the sense of periodic fever syndrome this model covers, and on what evidence? provenance
Neighbouring kinds and how to tell them apart
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these neighbouring kinds and how to tell them apart hold for the sense of periodic fever syndrome this model covers, and on what evidence? provenance
Classifiers Filled
- Family
- Thing Registry
- Category
- Cross-cutting context
- Entry kind
- thing
- Plane
- XCT
- Domain
- XCT.STA
- Other names and narrower kinds
- autoinflammatory syndrome with skin involvement, cryopyrin-associated periodic syndrome, Yao syndrome, hereditary periodic fever syndrome, mixed autoinflammatory and autoimmune syndrome, JMP syndrome, CANDLE syndrome, autoinflammatory syndrome with immune deficiency, granulomatous autoinflammatory syndrome, unclassified autoinflammatory syndrome, Nakajo-Nishimura syndrome, Nakajo syndrome
What it is Filled
Periodic fever syndrome denotes a group of disorders characterised by recurrent episodes of fever and systemic inflammation, usually involving innate immune dysregulation, with inherited and non-inherited forms and variable inflammation between attacks.
In scope
- Working definition and boundaries of the periodic fever syndrome umbrella
- Attack timing, duration, associated manifestations and intercritical state
- Evidence supporting or challenging an autoinflammatory explanation
- Subtype attribution, family history and interpretation of genetic evidence
- Versioned diagnostic or classification criteria and terminology mappings
- Longitudinal activity, complications and clinician-directed management constraints
Out of scope
- The patient's complete medical and demographic record
- Individual fever episodes as independently managed clinical events
- Infectious, malignant, autoimmune and other alternative conditions as full disease models
- Laboratory assays and genetic variants as independently specified things
- Drug specifications, prescribing protocols and treatment encounters
- Separate registry publications for subtypes without an explicit granularity decision
Why it exists Filled
Enable an agent to describe, distinguish and track a periodic fever syndrome while preserving uncertainty about its subtype, diagnostic basis and implications for care.
Distinguishing features Filled
- Determine whether fever recurs in discrete attacks with a characterisable interval state, rather than representing one prolonged febrile illness.
- Compare manifestations across attacks for a reproducible syndrome pattern; regular timing alone does not establish the diagnosis.
- Record evidence for and against recurrent infection and other explanations before attributing repeated fever to a periodic fever syndrome.
- Use associated manifestations, onset, family history and interpreted genetic findings to distinguish candidate subtypes; do not require a genetic result for the umbrella label.
- Distinguish syndrome identification from an unexplained recurrent-fever symptom label by recording the clinician's attribution and the criteria or reasoning supporting it.
What robots and AI may and may not do Filled
Must not
- Diagnose a periodic fever syndrome in a specific person.
- Recommend starting, stopping or changing treatment.
- Disclose a named person's diagnosis or genetic test results without consent.
Only with a human decision
- Any decision on genetic testing or treatment, especially for a child.
May
- Explain periodic fever syndromes in general terms, citing medical sources.
- Advise people with recurrent unexplained fevers to see a clinician.
Moral aspects Filled
- Rare conditions are often missed for years, which affects patients and families.
- Genetic findings can affect relatives, insurance and employment.
Who is affected
- Patients and families
- Children
- Relatives with shared genes
Owners Filled
Steward
The patient's treating clinician; each person answers for their own health records.
Master systems
- Rare disease registries
Links to other meta-models Filled
parent
- Q107538740 - registry parent class
What else AI and robots need to interact with it Filled
Identity and identifiers required Filled
- Vercy registry: vr.tr.periodic-fever-syndrome
- Wikidata: Q3278145 (https://www.wikidata.org/wiki/Q3278145)
Direct properties not applicable Not applicable
- Syndrome attribution: suspected | clinician-established | disputed | historical | unresolved
- Subtype attribution: candidate or established subtype, supporting evidence, attribution date and responsible clinician
- Age at first compatible attack: months or years, with onset-date uncertainty
- Attack duration: hours or days per observed attack; range and observation period
- Attack recurrence: attacks per observation period and onset-to-onset interval in days, with variability
- Fever documentation: temperature in degrees Celsius, measurement site, method, time and reported versus measured status
- Attack-associated manifestations: observed, absent, unknown or unassessed manifestations, including oral, pharyngeal, lymph-node, skin, abdominal, chest, joint and eye features
- Intercritical inflammatory state: symptom and laboratory status between attacks, with dates and reference ranges
- Inflammatory marker profile: marker-specific value, laboratory unit and reference range, linked to attack phase and treatment exposure
- Familial and molecular evidence: pedigree observations and genetic reports with gene, variant, zygosity, interpretation, laboratory and report date
- Longitudinal burden: attack days, missed school or work days, functional impact and assessment period
Plane XCT: no invented physical properties.
Recognition not applicable Not applicable
Not applicable
A periodic fever syndrome has no defining visual appearance and requires clinical evidence across episodes to distinguish it from other causes of recurrent fever.
Capabilities and actions required Filled
- Assemble an attack timeline and compare manifestations across attacks and intervals.
- Compare documented evidence with an explicitly sourced and versioned subtype criteria set.
- Identify missing observations or unresolved alternative explanations for clinician review.
- Track disease activity, functional burden and relevant complication surveillance over time.
- Link clinician-authorised management plans to their subtype assumptions and reassessment conditions.
- Map the syndrome to terminology systems while retaining release versions and mapping uncertainty.
Hazards and failure modes required Filled
- Untreated inflammation in some forms can lead to organ damage such as amyloidosis.
- Delayed diagnosis leads to repeated unnecessary treatments.
Standards and interfaces required Filled
- International Classification of Diseases, World Health Organization.
Context of use required Filled
- Periodic fever syndromes are encountered when recurrent fever and inflammatory episodes prompt clinical assessment over time.
- The term supports documenting attack patterns, associated symptoms and family history while distinguishing possible subtypes and alternative explanations.
Sources Filled
- Wikidata item Q3278145: periodic fever syndrome - identity and sense of the item
- Wikipedia: Periodic fever syndrome - general description of the item
Open questions
- Does the registry intend this entry to cover both hereditary and non-hereditary periodic fever syndromes, including PFAPA, or a narrower concept?
- Does an existing Vercy world model already own this umbrella concept or any proposed subtype representation?
- Which authoritative definitions and current criteria sets should anchor the umbrella and its subtype relationships?
- Which ICD-10, ICD-11 and SNOMED CT mappings are valid for the intended scope and relevant releases?
- Which subtype-specific evidence supports prevalence estimates, complication surveillance and longitudinal state definitions, and where is evidence insufficient?
Machine files
Provenance
thing registry research (pass 2) · unreviewed
Built from: models/things/publications/thing-q3278145/spec.json