{ "model": { "rank": 11480, "code": "thing-q929833", "model_id": "vr.tr.rare-disease", "name": "rare disease", "purpose": "Let an agent explain rare diseases, relay definitions, epidemiology, diagnosis challenges, orphan drug policy and support networks from health policy and patient organisation sources with estimates attributed, and distinguish rare diseases from orphan diseases as a policy term, neglected tropical diseases, ultra-rare diseases and common diseases with rare subtypes, without diagnosing individuals.", "family": "Thing Registry", "category": "Cross-cutting context", "status": "research-draft", "kind": "thing", "plane": "XCT", "domain": "XCT.STA", "industry": "", "version": "", "url": "/models/thing/q929833/", "tier": 2, "score": 42, "payload": { "layer": "wikidata", "aliases": [], "aliasCount": 0, "merged": 0, "knownIn": 42, "facets": null, "markers": [], "lexicalClass": "", "senseRank": null, "alsoRegisteredAs": null, "source": { "dataset": "wikidata", "item": "Q929833", "url": "https://www.wikidata.org/wiki/Q929833", "license": "CC0 1.0" } }, "research": { "vercy": "1.0-draft", "publication": { "status": "research-draft", "adjudicationStatus": "unreviewed", "publishableCanonical": false, "generatedAt": "2026-09-14T00:45:21Z", "providers": [ "Claude" ], "breadth": "written by Claude from model knowledge without web access - no source was read, every claim is a lead to verify", "pass": 2, "wave": 4, "engine": "claude" }, "metaModel": { "id": "THING-Q929833", "registryId": "vr.tr.rare-disease", "name": "rare disease", "version": "0.2.0-wave.4", "entryKind": "thing", "family": "Thing Registry", "domain": [ "XCT.STA" ], "status": "research-draft" }, "canonicalUrl": "https://ver.cy/models/thing/q929833/", "model": { "registry_id": "vr.tr.rare-disease", "name": "rare disease", "purpose": "Let an agent explain rare diseases, relay definitions, epidemiology, diagnosis challenges, orphan drug policy and support networks from health policy and patient organisation sources with estimates attributed, and distinguish rare diseases from orphan diseases as a policy term, neglected tropical diseases, ultra-rare diseases and common diseases with rare subtypes, without diagnosing individuals.", "definition": "A disease that affects a small proportion of the population, defined in the European Union as affecting no more than 1 in 2,000 people and in the United States under the Orphan Drug Act of 1983 as affecting fewer than 200,000 people, with thousands of distinct rare diseases, most of genetic origin and many beginning in childhood, together affecting a large number of people worldwide; patients often face long diagnostic journeys, few approved treatments and high costs, and orphan drug incentives, rare disease registries and networks such as the European Reference Networks aim to help. Rare Disease Day is held on the last day of February. Estimates of counts and prevalence vary and are attributed.", "what_it_is_for": "Not applicable; a category of diseases.", "affordances": [ "explain definitions by jurisdiction", "relay diagnosis and treatment challenges", "relay orphan drug policy", "present estimates with attribution" ], "distinguishing_features": [ "Low prevalence per disease", "Mostly genetic", "Diagnostic delay", "Policy incentives" ], "appearance": "Not a single appearance; a policy and medical category.", "visual_identification": [ "Disease affecting few people", "Rare disease, orphan disease", "Orphan disease emphasises lack of treatment investment; neglected tropical diseases may be common; ultra-rare diseases are far rarer; common diseases can have rare subtypes" ], "physical_properties": [ { "quantity": "EU threshold", "typical_range": "1 in 2,000", "unit": "prevalence", "note": "" }, { "quantity": "US Orphan Drug Act", "typical_range": "1983", "unit": "year", "note": "fewer than 200,000 people" }, { "quantity": "Rare Disease Day", "typical_range": "first held 2008", "unit": "note", "note": "last day of February" } ], "families_and_kinds": [ "genetic rare diseases", "rare cancers", "rare infectious diseases", "rare autoimmune diseases", "ultra-rare diseases" ], "related_models": [ { "relation": "is a kind of", "target": "disease", "why": "in registry terms" }, { "relation": "is supported by", "target": "Orphan Drug Act of 1983", "why": "" }, { "relation": "is catalogued by", "target": "Orphanet", "why": "" }, { "relation": "is contrasted with", "target": "neglected tropical disease", "why": "" } ], "identifiers": [], "standards_and_regulation": [ "EU Regulation on orphan medicinal products 141/2000", "US Orphan Drug Act", "Orphanet nomenclature and ORPHAcodes" ], "failure_modes_and_hazards": [ "Misleading prevalence figures", "Unproven treatments marketed to desperate families", "Stale policy information" ], "in_scope": [], "out_of_scope": [], "characteristics": [] }, "sources": [], "structure": { "bundles": [ { "id": "understand", "name": "Understand", "description": "What a rare disease is.", "rationale": "Attribution.", "layers": [ { "id": "definition", "name": "Definition", "description": "Definition.", "findings": [ { "id": "definition-finding", "name": "Definition", "description": "Definition.", "questions": [ { "text": "What is a rare disease, and how does it differ from orphan disease, neglected tropical diseases, ultra-rare diseases and rare subtypes?", "kind": "definition" }, { "text": "Is someone seeking a diagnosis or treatment for themselves or a child, in which case specialist clinicians, genetic services and patient organisations should help?", "kind": "boundary" } ] } ] }, { "id": "thresholds", "name": "Thresholds", "description": "Thresholds.", "findings": [ { "id": "thresholds-finding", "name": "Thresholds", "description": "Thresholds.", "questions": [ { "text": "How do EU, US, Japanese and other definitions differ?", "kind": "measurement" }, { "text": "Which entry fits orphan disease?", "kind": "action" } ] } ] } ] }, { "id": "diagnosis", "name": "Diagnosis", "description": "Diagnosis.", "rationale": "Science.", "layers": [ { "id": "odyssey", "name": "Diagnostic odyssey", "description": "Diagnostic delay.", "findings": [ { "id": "odyssey-finding", "name": "Diagnostic odyssey", "description": "Diagnostic odyssey.", "questions": [ { "text": "Why do rare disease patients face long diagnostic journeys, as surveys report?", "kind": "provenance" }, { "text": "Which references are standard?", "kind": "provenance" } ] } ] }, { "id": "genomics", "name": "Genomics", "description": "Genomic testing.", "findings": [ { "id": "genomics-finding", "name": "Genomics", "description": "Genomics.", "questions": [ { "text": "How has genome sequencing changed rare disease diagnosis?", "kind": "provenance" }, { "text": "Which sources are cited?", "kind": "provenance" } ] } ] } ] }, { "id": "policy", "name": "Policy", "description": "Policy.", "rationale": "Attribution.", "layers": [ { "id": "orphan", "name": "Orphan drugs", "description": "Orphan drug incentives.", "findings": [ { "id": "orphan-finding", "name": "Orphan drugs", "description": "Orphan drugs.", "questions": [ { "text": "What incentives do orphan drug laws give, and what do critics and supporters say about pricing, with positions attributed?", "kind": "provenance" }, { "text": "Is the presentation neutral and attributed?", "kind": "boundary" } ] } ] }, { "id": "networks", "name": "Networks", "description": "Reference networks.", "findings": [ { "id": "networks-finding", "name": "Networks", "description": "Networks.", "questions": [ { "text": "What are European Reference Networks and rare disease registries?", "kind": "provenance" }, { "text": "Which entry fits European Reference Networks?", "kind": "action" } ] } ] } ] }, { "id": "context", "name": "Context", "description": "Community.", "rationale": "Context.", "layers": [ { "id": "day", "name": "Rare Disease Day", "description": "Awareness.", "findings": [ { "id": "day-finding", "name": "Rare Disease Day", "description": "Rare Disease Day.", "questions": [ { "text": "How did EURORDIS start Rare Disease Day?", "kind": "provenance" }, { "text": "Which entry fits EURORDIS?", "kind": "action" } ] } ] }, { "id": "scams", "name": "Unproven treatments", "description": "Unproven treatments.", "findings": [ { "id": "scams-finding", "name": "Unproven treatments", "description": "Unproven treatments.", "questions": [ { "text": "How can families recognise unproven treatment offers?", "kind": "provenance" }, { "text": "Is the information current?", "kind": "boundary" } ] } ] } ] } ] }, "openQuestions": [ "How should Orphanet codes be linked?", "How should prevalence estimates be attributed and kept current?", "Should ultra-rare diseases be a separate entry?" ], "statistics": { "bundles": 4, "layers": 8, "findings": 8, "questions": 16 } }, "draft": { "generator": "vr.draft.v3", "status": "draft-generated", "researched": false, "archetype": "disease or condition", "method": "Written from the archetype playbook - what this kind of thing needs beyond identity and provenance - and from the structure that recurred across 6,333 models already researched by two engines. Applied to this entry by rule. No source was read for this thing and no claim here is researched. This entry carries no facets of its own, so they were inferred from its domain - a guess about a whole domain applied to one thing.", "facetsInferred": true, "nextPass": "A researcher replaces this draft with a sourced specification. Treat every sentence below as a proposal to argue with.", "purpose": "Give an agent a durable, checkable way to recognise a rare disease, record what state it is in, and decide what may be done with it.", "whatItIs": "Let an agent explain rare diseases, relay definitions, epidemiology, diagnosis challenges, orphan drug policy and support networks from health policy and patient organisation sources with estimates attributed, and distinguish rare diseases from orphan diseases as a policy term, neglected tropical diseases, ultra-rare diseases and common diseases with rare subtypes, without diagnosing individuals.", "characteristics": { "substance": "abstract", "origin": "conceptual", "agency": "inert" }, "whatYouCanDoWithIt": [ "observed and measured" ], "distinguishingFeatures": [ "Described in 42 Wikipedia languages, which is a measure of how widely the thing is known, not of how important it is." ], "openQuestionsForResearch": [ "Which of the bundles below does a real task actually need, and which are ceremony?", "What does this thing have that the facets do not capture at all?", "Which neighbouring kind is most often confused with a rare disease, and on what evidence are they told apart?" ], "whatItIsMadeOf": "an abstraction with no physical instance", "physicalCharacter": [ "Does nothing on its own; everything it does, something else did to it.", "These come from the domain this entry sits in rather than from the entry itself, so treat them as a first guess about the whole domain applied to one thing." ], "whatCanBeDoneWithIt": [ "observe it, measure it, record its state" ], "howItIsRecognised": [ "Recognised by criteria applied to signs and findings, not by appearance. Two conditions can look identical and be distinguished only by test." ], "relatedModels": [], "standing": "Described in 42 Wikipedia languages, which measures how widely it is written about rather than how important or how common it is.", "structure": { "bundles": [ { "id": "identity-and-classification", "name": "Identity, naming and classification", "description": "How an agent tells one rare disease from another, and a rare disease from things that resemble it.", "rationale": "Recognition comes before every other claim. Without stable identity nothing else in the model can be trusted to be about the same thing twice.", "layers": [ { "id": "naming-and-identifiers", "name": "Names and identifiers", "description": "The names this thing goes by and the identifiers that survive translation and time.", "findings": [ { "id": "preferred-name-and-aliases", "name": "Preferred name, aliases and local names", "description": "Which name to use, which names mean the same thing, and which merely sound similar.", "questions": [ { "id": "preferred-name-and-aliases-q01", "text": "What identifies and describes the name of a rare disease, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "preferred-name-and-aliases-q02", "text": "Who or what asserted this about the name of a rare disease, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "preferred-name-and-aliases-q03", "text": "What may an agent decide or do once the name of a rare disease is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] }, { "id": "stable-identifiers", "name": "Stable identifiers and external keys", "description": "Identifiers that keep pointing at this kind of thing across systems and languages.", "questions": [ { "id": "stable-identifiers-q01", "text": "What identifies and describes an identifier for a rare disease, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "stable-identifiers-q02", "text": "Who or what asserted this about an identifier for a rare disease, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "stable-identifiers-q03", "text": "What may an agent decide or do once an identifier for a rare disease is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] }, { "id": "classification-and-granularity", "name": "Classification and granularity", "description": "Where a rare disease sits among kinds, and how finely a task needs to cut it.", "findings": [ { "id": "kind-and-parents", "name": "Kind, parents and neighbouring kinds", "description": "The classes this thing belongs to and the ones it is next to.", "questions": [ { "id": "kind-and-parents-q01", "text": "What identifies and describes the kind of a rare disease, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "kind-and-parents-q02", "text": "Who or what asserted this about the kind of a rare disease, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "kind-and-parents-q03", "text": "What may an agent decide or do once the kind of a rare disease is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] }, { "id": "distinguishing-features", "name": "Distinguishing features", "description": "What separates a rare disease from the things most often confused with it.", "questions": [ { "id": "distinguishing-features-q01", "text": "What identifies and describes what distinguishes a rare disease, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "distinguishing-features-q02", "text": "Who or what asserted this about what distinguishes a rare disease, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "distinguishing-features-q03", "text": "What may an agent decide or do once what distinguishes a rare disease is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] } ] }, { "id": "state-and-lifecycle", "name": "State and lifecycle", "description": "The states a rare disease passes through and the events that move it between them.", "rationale": "Most decisions about a thing depend on what state it is in now, which is a claim with a time on it, not a property.", "layers": [ { "id": "lifecycle-stages", "name": "Lifecycle stages", "description": "From coming into existence to ceasing to be one of these.", "findings": [ { "id": "stages-and-transitions", "name": "Stages and transitions", "description": "The stages worth naming and what moves a rare disease between them.", "questions": [ { "id": "stages-and-transitions-q01", "text": "What identifies and describes the lifecycle of a rare disease, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "stages-and-transitions-q02", "text": "Who or what asserted this about the lifecycle of a rare disease, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "stages-and-transitions-q03", "text": "What may an agent decide or do once the lifecycle of a rare disease is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] }, { "id": "observations-and-status", "name": "Observations and current status", "description": "What is observed about a rare disease, how often and by whom.", "findings": [ { "id": "observation-record", "name": "Observation record", "description": "How an observation of a rare disease is recorded so that it can be superseded rather than overwritten.", "questions": [ { "id": "observation-record-q01", "text": "What identifies and describes an observation of a rare disease, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "observation-record-q02", "text": "Who or what asserted this about an observation of a rare disease, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "observation-record-q03", "text": "What may an agent decide or do once an observation of a rare disease is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] } ] }, { "id": "diagnosis-and-criteria", "name": "Diagnosis, criteria and coding", "description": "What makes a case of rare disease a case, and under which revision.", "rationale": "Criteria change between revisions, so a diagnosis without its coding revision cannot be compared with a later one.", "layers": [ { "id": "criteria", "name": "Diagnostic criteria", "description": "The criteria in force and who issues them.", "findings": [ { "id": "criteria-record", "name": "Criteria, issuer and revision", "description": "What must be true for a diagnosis, according to whom.", "questions": [ { "id": "criteria-record-q01", "text": "What criteria define rare disease, issued by which body, in which revision?", "kind": "definition" }, { "id": "criteria-record-q02", "text": "What changed between revisions that would reclassify existing cases?", "kind": "boundary" } ] } ] }, { "id": "coding", "name": "Coding and terminology", "description": "The codes used to record it and their mapping.", "findings": [ { "id": "coding-record", "name": "Codes and mappings", "description": "Which classification codes apply and how they map.", "questions": [ { "id": "coding-record-q01", "text": "Which classification and terminology codes cover rare disease, and how do they map to each other?", "kind": "definition" }, { "id": "coding-record-q02", "text": "What is lost when a case is mapped from one scheme to another?", "kind": "boundary" } ] } ] } ] }, { "id": "course-and-population", "name": "Course, population and care", "description": "How rare disease develops, whom it affects, and what is done about it.", "rationale": "The condition, the diagnosis and the episode of care are three different things, and an agent must not merge them.", "layers": [ { "id": "course", "name": "Course and stages", "description": "Onset, progression, remission and outcome.", "findings": [ { "id": "course-record", "name": "Stages and transitions", "description": "The stages recorded and what moves a case between them.", "questions": [ { "id": "course-record-q01", "text": "What course does rare disease typically take, and what marks each stage?", "kind": "definition" }, { "id": "course-record-q02", "text": "What separates the condition itself from an episode of care for it?", "kind": "boundary" } ] } ] }, { "id": "population", "name": "Affected populations", "description": "Who is affected, how often, and on what evidence.", "findings": [ { "id": "epidemiology", "name": "Prevalence and its basis", "description": "Rates with their population, period and source.", "questions": [ { "id": "epidemiology-q01", "text": "What prevalence or incidence is reported for rare disease, in which population and period?", "kind": "measurement" }, { "id": "epidemiology-q02", "text": "What may an agent not conclude about an individual from a population rate?", "kind": "action" } ] } ] } ] }, { "id": "provenance-and-evidence", "name": "Provenance, evidence and time", "description": "Where every claim about a rare disease came from and when it held.", "rationale": "A claim without a source and a time cannot be superseded, only overwritten, and an agent that overwrites loses the ability to explain itself.", "layers": [ { "id": "source-and-authority", "name": "Source and authority", "description": "Who said it, on what evidence, and how strongly.", "findings": [ { "id": "claim-provenance", "name": "Claim provenance and confidence", "description": "The authority behind each claim about a rare disease and how confident it is.", "questions": [ { "id": "claim-provenance-q01", "text": "What identifies and describes a claim about a rare disease, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "claim-provenance-q02", "text": "Who or what asserted this about a claim about a rare disease, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "claim-provenance-q03", "text": "What may an agent decide or do once a claim about a rare disease is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] }, { "id": "time-and-versions", "name": "Time, versions and supersession", "description": "When a claim was true, when it was learnt, and what replaced it.", "findings": [ { "id": "validity-and-supersession", "name": "Validity period and supersession", "description": "How an old claim about a rare disease is retired without being erased.", "questions": [ { "id": "validity-and-supersession-q01", "text": "What identifies and describes the validity of a claim about a rare disease, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "validity-and-supersession-q02", "text": "Who or what asserted this about the validity of a claim about a rare disease, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "validity-and-supersession-q03", "text": "What may an agent decide or do once the validity of a claim about a rare disease is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] } ] } ] }, "statistics": { "bundles": 5, "layers": 10, "findings": 12, "questions": 32 } } } }