{ "model": { "rank": 6823, "code": "thing-q200779", "model_id": "vr.tr.genetic-disease", "name": "genetic disease", "purpose": "Let an agent give general, non-diagnostic information about genetic diseases, and route people to genetic counselling, clinicians and patient organisations, respecting privacy.", "family": "Thing Registry", "category": "Cross-cutting context", "status": "research-draft", "kind": "thing", "plane": "XCT", "domain": "XCT.STA", "industry": "", "version": "", "url": "/models/thing/q200779/", "tier": 2, "score": 58, "payload": { "layer": "wikidata", "aliases": [], "aliasCount": 0, "merged": 0, "knownIn": 58, "facets": null, "markers": [], "lexicalClass": "", "senseRank": null, "alsoRegisteredAs": "vr.tr.genetic-disease", "source": { "dataset": "wikidata", "item": "Q200779", "url": "https://www.wikidata.org/wiki/Q200779", "license": "CC0 1.0" } }, "research": { "vercy": "1.0-draft", "publication": { "status": "research-draft", "adjudicationStatus": "unreviewed", "publishableCanonical": false, "generatedAt": "2026-09-11T08:54:20Z", "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": 1, "engine": "claude" }, "metaModel": { "id": "THING-Q200779", "registryId": "vr.tr.genetic-disease", "name": "genetic disease", "version": "0.2.0-wave.1", "entryKind": "thing", "family": "Thing Registry", "domain": [ "XCT.STA" ], "status": "research-draft" }, "canonicalUrl": "https://ver.cy/models/thing/q200779/", "model": { "registry_id": "vr.tr.genetic-disease", "name": "genetic disease", "purpose": "Let an agent give general, non-diagnostic information about genetic diseases, and route people to genetic counselling, clinicians and patient organisations, respecting privacy.", "definition": "A disease caused wholly or partly by changes in genes or chromosomes, inherited or arising new, such as cystic fibrosis, sickle cell disease, Huntington disease and chromosomal conditions like Down syndrome.", "what_it_is_for": "A group of conditions studied by medical genetics and managed by health professionals.", "affordances": [ "find genetic counselling", "understand inheritance patterns in general terms", "access patient support organisations", "protect genetic data" ], "distinguishing_features": [ "Genetic cause", "Inherited or new mutation", "Many are rare", "Genetic data is sensitive" ], "appearance": "Not described; conditions vary widely.", "visual_identification": [ "Inheritance patterns: dominant, recessive, X-linked", "Chromosomal and single-gene conditions", "Registries such as OMIM and Orphanet" ], "physical_properties": [], "families_and_kinds": [ "single-gene disorders", "chromosomal disorders", "mitochondrial disorders", "multifactorial conditions with genetic components" ], "related_models": [ { "relation": "is a kind of", "target": "hereditary disorder", "why": "category" }, { "relation": "is caused by", "target": "gene variants", "why": "cause" }, { "relation": "is studied by", "target": "medical genetics", "why": "field" }, { "relation": "is supported by", "target": "genetic counselling", "why": "service" } ], "identifiers": [ { "scheme": "OMIM number", "value_or_pattern": "catalogue ids", "note": "genetic conditions" }, { "scheme": "ORPHAcode", "value_or_pattern": "Orphanet ids", "note": "rare diseases" } ], "standards_and_regulation": [ "Genetic testing regulations", "Genetic non-discrimination laws in some countries", "Data protection for genetic data" ], "failure_modes_and_hazards": [ "Interpreting genetic results without a professional", "Stigmatising language", "Sharing genetic data without consent" ], "in_scope": [], "out_of_scope": [], "characteristics": [] }, "sources": [], "structure": { "bundles": [ { "id": "understanding", "name": "Understanding", "description": "General information.", "rationale": "Information stays general.", "layers": [ { "id": "inheritance", "name": "Inheritance", "description": "Patterns.", "findings": [ { "id": "inheritance-finding", "name": "Inheritance", "description": "Inheritance.", "questions": [ { "text": "How are genetic conditions inherited, in general terms?", "kind": "definition" }, { "text": "Who can explain an individual family risk?", "kind": "boundary" } ] } ] }, { "id": "condition", "name": "Condition", "description": "Which condition.", "findings": [ { "id": "condition-finding", "name": "Condition", "description": "Condition.", "questions": [ { "text": "Which condition is being asked about?", "kind": "definition" }, { "text": "Where is reliable information?", "kind": "provenance" } ] } ] } ] }, { "id": "care", "name": "Care", "description": "Professionals.", "rationale": "Diagnosis is professional.", "layers": [ { "id": "counselling", "name": "Counselling", "description": "Genetic services.", "findings": [ { "id": "counselling-finding", "name": "Counselling", "description": "Genetic counselling.", "questions": [ { "text": "How can someone access genetic counselling?", "kind": "action" }, { "text": "What does it involve?", "kind": "definition" } ] } ] }, { "id": "testing", "name": "Testing", "description": "Results.", "findings": [ { "id": "testing-finding", "name": "Testing", "description": "Genetic testing.", "questions": [ { "text": "Has a professional explained the test results?", "kind": "boundary" }, { "text": "Is a consumer test result reliable for health decisions?", "kind": "boundary" } ] } ] } ] }, { "id": "support", "name": "Support", "description": "Living with it.", "rationale": "Support matters.", "layers": [ { "id": "organisations", "name": "Organisations", "description": "Patient groups.", "findings": [ { "id": "organisations-finding", "name": "Organisations", "description": "Patient organisations.", "questions": [ { "text": "Which patient organisations support this condition?", "kind": "action" }, { "text": "Are there rare disease networks?", "kind": "provenance" } ] } ] }, { "id": "language", "name": "Language", "description": "Respect.", "findings": [ { "id": "language-finding", "name": "Language", "description": "Respectful language.", "questions": [ { "text": "Is respectful, person-first language used?", "kind": "boundary" }, { "text": "Does the community prefer other terms?", "kind": "provenance" } ] } ] } ] }, { "id": "privacy", "name": "Privacy", "description": "Genetic data.", "rationale": "Genetic data is sensitive.", "layers": [ { "id": "data", "name": "Data", "description": "Consent.", "findings": [ { "id": "data-finding", "name": "Data", "description": "Genetic data.", "questions": [ { "text": "Is genetic data shared only with consent?", "kind": "boundary" }, { "text": "Which law protects it?", "kind": "provenance" } ] } ] }, { "id": "discrimination", "name": "Discrimination", "description": "Insurance and work.", "findings": [ { "id": "discrimination-finding", "name": "Discrimination", "description": "Genetic discrimination.", "questions": [ { "text": "Are there protections against genetic discrimination here?", "kind": "provenance" }, { "text": "Where can concerns be raised?", "kind": "action" } ] } ] } ] } ] }, "openQuestions": [ "Should conditions be separate entries?", "How should OMIM and Orphanet be linked?", "How should consumer genetic tests be discussed?" ], "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 genetic disease, record what state it is in, and decide what may be done with it.", "whatItIs": "Let an agent give general, non-diagnostic information about genetic diseases, and route people to genetic counselling, clinicians and patient organisations, respecting privacy.", "characteristics": { "substance": "abstract", "origin": "conceptual", "agency": "inert" }, "whatYouCanDoWithIt": [ "observed and measured" ], "distinguishingFeatures": [ "Described in 58 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 genetic 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 58 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 genetic disease from another, and a genetic 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 genetic 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 genetic 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 genetic 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 genetic 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 genetic 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 genetic 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 genetic 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 genetic 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 genetic 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 genetic 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 genetic disease from the things most often confused with it.", "questions": [ { "id": "distinguishing-features-q01", "text": "What identifies and describes what distinguishes a genetic 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 genetic 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 genetic 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 genetic 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 genetic disease between them.", "questions": [ { "id": "stages-and-transitions-q01", "text": "What identifies and describes the lifecycle of a genetic 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 genetic 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 genetic 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 genetic disease, how often and by whom.", "findings": [ { "id": "observation-record", "name": "Observation record", "description": "How an observation of a genetic 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 genetic 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 genetic 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 genetic 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 genetic 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 genetic 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 genetic 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 genetic 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 genetic 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 genetic 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 genetic 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 genetic disease and how confident it is.", "questions": [ { "id": "claim-provenance-q01", "text": "What identifies and describes a claim about a genetic 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 genetic 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 genetic 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 genetic disease is retired without being erased.", "questions": [ { "id": "validity-and-supersession-q01", "text": "What identifies and describes the validity of a claim about a genetic 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 genetic 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 genetic 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 } } } }