{ "model": { "rank": 5576, "code": "thing-q190564", "model_id": "vr.tr.huntington-s-disease", "name": "Huntington's disease", "purpose": "Enable an agent to recognise Huntington's disease, distinguish inherited susceptibility from clinical manifestation, assess progression, and identify evidence-supported assessment and care actions.", "family": "Thing Registry", "category": "Information and virtual systems", "status": "research-draft", "kind": "thing", "plane": "INF", "domain": "INF.KNW", "industry": "", "version": "", "url": "/models/thing/q190564/", "tier": 2, "score": 66, "payload": { "layer": "wikidata", "aliases": [ "juvenile Huntington disease" ], "aliasCount": 1, "merged": 1, "knownIn": 66, "facets": null, "markers": [], "lexicalClass": "", "senseRank": null, "alsoRegisteredAs": null, "source": { "dataset": "wikidata", "item": "Q190564", "url": "https://www.wikidata.org/wiki/Q190564", "license": "CC0 1.0" } }, "research": { "vercy": "1.0-draft", "publication": { "status": "research-draft", "adjudicationStatus": "unreviewed", "publishableCanonical": false, "generatedAt": "2026-09-09T22:41:18Z", "providers": [ "Codex" ], "breadth": "recalled by Codex without web access - no source was read", "missingProviders": [], "pass": 2, "cost": { "grok": { "seconds": 26.9, "error": "Reading additional input from stdin...\nOpenAI Codex v0.153.4\n--------\nworkdir: R:\\02_PROJECTS\\02_Meta_Models_Platforms\\Ver.cy\\current\\thing-registry-backlog\nmodel: gpt-6-astra\nprovider: openai\napproval: never\nsandbox: read-only\nreasoning effort: none\nreasoning summaries: none\nsession id: 01a08854-21f0-76f3-bdf7-36a774edc881\n--------\nuser\nDescribe what is already known about one registered thing. Answer as JSON only, no prose around it.\n\nThing: Huntington's disease\nSense to describe: (none recorded)\nDomain code: XCT.STA\nAlso known as: (none)\n\n\nContext for this batch of 188 things:\n# Batch 006: ", "usd": 0, "recall": true }, "codex": { "seconds": 68.9, "error": "Reading additional input from stdin...\nOpenAI Codex v0.153.4\n--------\nworkdir: R:\\02_PROJECTS\\02_Meta_Models_Platforms\\Ver.cy\\current\\thing-registry-backlog\nmodel: gpt-6-astra\nprovider: openai\napproval: never\nsandbox: read-only\nreasoning effort: none\nreasoning summaries: none\nsession id: 01a08854-21e5-7172-beb6-7060b999e092\n--------\nuser\nYou are drafting a Vercy meta-model for one registered thing. Answer as JSON only, no prose around it.\n\nThing: Huntington's disease\nRegistry id: vr.tr.huntington-s-disease\nPlane / domain: XCT / XCT.STA\nRegistry definition: (none recorded)\nNames folded into thi" } } }, "metaModel": { "id": "THING-Q190564", "registryId": "vr.tr.huntington-s-disease", "name": "Huntington's disease", "version": "0.1.0-research.1", "entryKind": "thing", "family": "Thing Registry", "domain": [ "XCT.STA" ], "status": "research-draft" }, "canonicalUrl": "https://ver.cy/models/thing/q190564/", "model": { "registry_id": "vr.tr.huntington-s-disease", "name": "Huntington's disease", "purpose": "Enable an agent to recognise Huntington's disease, distinguish inherited susceptibility from clinical manifestation, assess progression, and identify evidence-supported assessment and care actions.", "definition": "Huntington's disease is an autosomal dominant, progressive neurodegenerative disorder caused by a pathogenic CAG-repeat expansion in the HTT gene, with variable combinations of motor, cognitive and psychiatric manifestations.", "scope_statement": "This model owns the disease concept registered as vr.tr.huntington-s-disease in XCT / XCT.STA, including its defining genetic basis, diagnostic boundaries, manifestations, progression and disease-specific action constraints.", "in_scope": [ "HTT repeat-expansion evidence and its interpretation", "Distinction between familial risk, molecular status and clinically manifest disease", "Motor, cognitive, psychiatric and functional manifestations", "Adult and juvenile presentations and longitudinal progression", "Disease-specific assessment, care priorities and evidence provenance", "Versioned terminology mappings and population-specific epidemiology" ], "out_of_scope": [ "The patient's complete identity, biography and medical record", "The HTT gene and huntingtin protein as independently modelled biological entities", "Laboratory operations and sequencing-platform specifications", "Visits, referrals and episodes of care as operational records", "Drug products, prescribing protocols and clinical trials as independent entities", "Relatives' individual diagnoses and reproductive decisions" ], "distinguishing_features": [ "Identify evidence of a disease-associated HTT CAG expansion; chorea alone does not establish Huntington's disease. Reference: [GeneReviews](https://www.ncbi.nlm.nih.gov/books/NBK1305/).", "Separate a positive predictive genetic result from evidence establishing current clinical manifestation.", "Assess progressive motor, cognitive and psychiatric changes together rather than equating the disease with involuntary movement. Reference: [NINDS](https://www.ninds.nih.gov/sites/default/files/2025-05/huntingtons-disease-hope-through-research.pdf).", "Allow juvenile presentations with prominent rigidity or bradykinesia rather than requiring adult-pattern chorea. Reference: [GeneReviews](https://www.ncbi.nlm.nih.gov/books/NBK1305/).", "Require a documented differential assessment when the phenotype resembles Huntington's disease but HTT evidence is absent, inconclusive or discordant." ], "characteristics": [ { "name": "HTT repeat measurement", "kind": "measurement", "unit_or_values": "CAG repeat count for each reported allele, with assay, uncertainty and report date", "why_it_matters": "Preserves the measured evidence separately from its clinical interpretation." }, { "name": "Allele interpretation", "kind": "category", "unit_or_values": "Normal, intermediate, reduced penetrance, full penetrance or unresolved, with interpretation authority and revision", "why_it_matters": "Conventional ranges are ≤26, 27-35, 36-39 and ≥40 repeats respectively; repeat structure and assay limitations require attention near boundaries. Reference: [GeneReviews](https://www.ncbi.nlm.nih.gov/books/NBK1305/)." }, { "name": "Disease ascertainment status", "kind": "state", "unit_or_values": "Familial risk only, molecularly established expansion without established clinical manifestation, clinically manifest, suspected or unresolved", "why_it_matters": "Prevents risk, genetic status and clinical diagnosis from being collapsed." }, { "name": "Onset evidence", "kind": "measurement", "unit_or_values": "Age in years or interval, separately for motor, cognitive and psychiatric onset, with informant and certainty", "why_it_matters": "Separates recalled first symptoms from formal diagnosis and supports assessment of juvenile presentation." }, { "name": "Motor assessment", "kind": "measurement", "unit_or_values": "UHDRS motor scores or another named instrument, with version, date, examiner and examination conditions", "why_it_matters": "Makes serial motor observations interpretable without treating every change as progression." }, { "name": "Cognitive and psychiatric profile", "kind": "state", "unit_or_values": "Domain-specific findings, severity, instrument, informant, date and attribution certainty", "why_it_matters": "Captures clinically consequential changes that a motor-only model misses." }, { "name": "Functional capacity", "kind": "measurement", "unit_or_values": "Named functional instrument and score, plus assistance required for specific activities", "why_it_matters": "Connects observed impairment to support needs." }, { "name": "Stage assignment", "kind": "category", "unit_or_values": "Framework name, version, assigned stage, supporting evidence and assignment date", "why_it_matters": "Prevents clinical functional stages and research classifications from being treated as interchangeable." }, { "name": "Terminology mapping", "kind": "relation", "unit_or_values": "Verified ICD-10, ICD-11 or SNOMED CT identifier, edition, jurisdiction, label and mapping scope", "why_it_matters": "Keeps disease codes separate from genetic susceptibility, symptoms and encounter codes." }, { "name": "Population burden estimate", "kind": "measurement", "unit_or_values": "Prevalence or incidence with denominator, geography, population definition, observation period and ascertainment method", "why_it_matters": "Prevents a local or historically measured estimate from becoming a universal disease property." } ], "affordances": [ "Organise genetic and clinical evidence into a reviewable disease-status assessment.", "Flag discordant findings and missing evidence for specialist review.", "Compare serial assessments when instruments and examination conditions permit.", "Identify disease-specific support priorities from swallowing, mobility, cognition, behaviour and functional findings.", "Route predictive-testing and family-risk questions to a documented genetic-counselling process.", "Attach verified terminology mappings and population estimates without losing their revision or context." ] }, "sources": [], "structure": { "bundles": [ { "id": "genetic-identity", "name": "Genetic identity", "description": "Establish what HTT evidence supports and where its interpretation remains uncertain.", "rationale": "Huntington's disease requires a model of expansion evidence that does not mistake inherited risk for observed clinical state.", "layers": [ { "id": "repeat-evidence", "name": "Repeat evidence", "description": "Retain the original measurement and laboratory interpretation.", "findings": [ { "id": "reported-htt-expansion", "name": "Reported HTT expansion", "description": "Record allele measurements, assay limitations and repeat-structure information where available.", "questions": [ { "text": "What repeat counts were reported for each allele, by which laboratory and assay, and with what measurement uncertainty?", "kind": "measurement", "id": "reported-htt-expansion-q01" }, { "text": "Which interpretation standard was applied, and could repeat interruptions or assay limitations affect this result?", "kind": "provenance", "id": "reported-htt-expansion-q02" } ] } ] }, { "id": "inheritance-and-penetrance", "name": "Inheritance and penetrance", "description": "Separate family evidence, transmission and individual expression.", "findings": [ { "id": "family-evidence-limits", "name": "Family evidence limits", "description": "Keep pedigree reports distinct from verified genetic findings and avoid deterministic onset predictions.", "questions": [ { "text": "Which reported affected relatives have verified diagnoses or molecular results, and which remain family recollections?", "kind": "provenance", "id": "family-evidence-limits-q01" }, { "text": "What can this allele interpretation establish about susceptibility, and what remains unknown about whether and when symptoms will occur?", "kind": "boundary", "id": "family-evidence-limits-q02" } ] } ] } ] }, { "id": "diagnosis-and-boundaries", "name": "Diagnosis and boundaries", "description": "Distinguish disease status from a test result, symptom label or encounter.", "rationale": "A molecular finding, a clinical diagnosis and a care episode answer different questions.", "layers": [ { "id": "clinical-ascertainment", "name": "Clinical ascertainment", "description": "Document the basis and authority for a diagnostic assertion.", "findings": [ { "id": "manifestation-assertion", "name": "Manifestation assertion", "description": "Require explicit criteria and supporting observations for the assigned clinical status.", "questions": [ { "text": "Which diagnostic criteria, issuing body and revision support the recorded status, and who applied them?", "kind": "provenance", "id": "manifestation-assertion-q01" }, { "text": "Does the assertion concern familial risk, an identified expansion, prodromal features or clinically manifest disease?", "kind": "definition", "id": "manifestation-assertion-q02" } ] } ] }, { "id": "phenocopies-and-coding", "name": "Phenocopies and coding", "description": "Resolve competing explanations and terminology boundaries.", "findings": [ { "id": "differential-and-code-fit", "name": "Differential and code fit", "description": "Record unresolved Huntington-like presentations and verify that coding matches the assertion actually supported.", "questions": [ { "text": "If HTT evidence is negative or inconclusive, what assessment is documented for alternatives such as JPH3-related disease, other repeat disorders or acquired chorea?", "kind": "boundary", "id": "differential-and-code-fit-q01" }, { "text": "Which verified code, release and jurisdiction describe the supported disease assertion rather than a symptom, susceptibility state or visit?", "kind": "provenance", "id": "differential-and-code-fit-q02" } ] } ] } ] }, { "id": "phenotype-and-progression", "name": "Phenotype and progression", "description": "Describe domain-specific manifestations and their trajectory.", "rationale": "The clinically relevant state cannot be represented by chorea severity or a single onset date.", "layers": [ { "id": "multidomain-presentation", "name": "Multidomain presentation", "description": "Characterise motor, cognitive and psychiatric changes, including juvenile presentations.", "findings": [ { "id": "presentation-profile", "name": "Presentation profile", "description": "Record observed features, their timing and competing explanations.", "questions": [ { "text": "Which choreic, rigid, bradykinetic, dystonic or oculomotor findings are documented, and by what examination?", "kind": "measurement", "id": "presentation-profile-q01" }, { "text": "Which cognitive or psychiatric changes preceded or followed motor findings, and how were medication effects or comorbid conditions considered?", "kind": "boundary", "id": "presentation-profile-q02" } ] } ] }, { "id": "longitudinal-staging", "name": "Longitudinal staging", "description": "Connect repeated assessments to a named staging framework.", "findings": [ { "id": "supported-stage-and-change", "name": "Supported stage and change", "description": "Separate measured change, inferred progression and framework-specific stage.", "questions": [ { "text": "Which dated motor, cognitive and functional assessments support the trajectory, and are their instruments and conditions comparable?", "kind": "measurement", "id": "supported-stage-and-change-q01" }, { "text": "Which staging framework and revision were used, and does the assignment serve clinical care or research classification?", "kind": "boundary", "id": "supported-stage-and-change-q02" } ] } ] } ] }, { "id": "care-priorities-and-testing", "name": "Care priorities and testing", "description": "Translate disease findings into reviewable support and testing decisions.", "rationale": "Functional consequences and predictive genetic information create distinct action requirements.", "layers": [ { "id": "complications-and-support", "name": "Complications and support", "description": "Identify current disease-related needs and responsible clinical follow-up.", "findings": [ { "id": "priority-needs", "name": "Priority needs", "description": "Record actionable concerns involving swallowing, nutrition, falls, communication, mental health and daily functioning.", "questions": [ { "text": "Which current findings indicate a need for swallowing, nutrition, mobility, communication or mental-health assessment?", "kind": "action", "id": "priority-needs-q01" }, { "text": "What symptom or functional goal is each intervention intended to address, and what response or adverse effect will be reviewed?", "kind": "action", "id": "priority-needs-q02" } ] } ] }, { "id": "predictive-testing-context", "name": "Predictive testing context", "description": "Preserve the purpose, consent context and disclosure boundaries of testing.", "findings": [ { "id": "testing-purpose-and-authority", "name": "Testing purpose and authority", "description": "Distinguish diagnostic testing from predictive and reproductive uses of genetic information.", "questions": [ { "text": "Is testing diagnostic, predictive or reproductive, and which counselling and consent process applies?", "kind": "boundary", "id": "testing-purpose-and-authority-q01" }, { "text": "What consent and professional guidance govern testing or disclosure, particularly for asymptomatic minors and relatives?", "kind": "action", "id": "testing-purpose-and-authority-q02" } ] } ] } ] }, { "id": "population-and-evidence-context", "name": "Population and evidence context", "description": "Keep epidemiological and practice claims attached to their applicable evidence.", "rationale": "Population estimates and clinical recommendations lose meaning when detached from ascertainment, date and scope.", "layers": [ { "id": "population-ascertainment", "name": "Population ascertainment", "description": "Define who was counted and how disease status was established.", "findings": [ { "id": "interpretable-burden", "name": "Interpretable burden", "description": "Separate clinically ascertained disease prevalence from expansion frequency and familial risk.", "questions": [ { "text": "What population, geography, year, denominator and diagnostic method support the estimate?", "kind": "measurement", "id": "interpretable-burden-q01" }, { "text": "Does the estimate count clinically manifest cases, expansion carriers or people with family history, and how might underdiagnosis affect it?", "kind": "boundary", "id": "interpretable-burden-q02" } ] } ] }, { "id": "claim-maintenance", "name": "Claim maintenance", "description": "Track source support and revision-sensitive conclusions.", "findings": [ { "id": "evidence-and-unsettled-claims", "name": "Evidence and unsettled claims", "description": "Attach evidence to diagnostic, prognostic and intervention claims while retaining unresolved disagreement.", "questions": [ { "text": "Which directly reviewed source supports each claim, and what publication date, population and limitations constrain it?", "kind": "provenance", "id": "evidence-and-unsettled-claims-q01" }, { "text": "Which claims require renewed verification before use, especially diagnostic revisions, biomarkers and treatment availability?", "kind": "action", "id": "evidence-and-unsettled-claims-q02" } ] } ] } ] }, { "id": "evidence-and-external-alignment", "name": "Evidence and external alignment", "description": "What the world already says about this thing, gathered so the model can be checked against it.", "rationale": "A model that cannot be lined up against existing standards, identifiers and practice cannot be adopted by anyone who already uses them.", "layers": [ { "id": "reported-evidence", "name": "Reported evidence", "description": "Findings from the breadth pass, kept separate from the structural claims.", "findings": [ { "id": "evidence-confidence-notes", "name": "Check these first", "description": "Recalled without web access and unsourced; every item is a lead to verify.", "evidence": [ "This is recalled knowledge, not source-verified research; guideline editions and instrument details should be checked before publication.", "Adult, juvenile and late-onset categories describe age at onset rather than separate genetic diseases; late-onset thresholds vary.", "No prevalence estimate or ICD-11/SNOMED CT identifier is supplied because these require verification of population, edition or terminology release." ], "questions": [ { "id": "evidence-confidence-notes-q01", "text": "Which of these check these first hold for the sense of Huntington's disease this model covers, and on what evidence?", "kind": "provenance" } ] }, { "id": "evidence-kinds", "name": "Kinds and varieties", "description": "Recalled without web access and unsourced; every item is a lead to verify.", "evidence": [ "Adult-onset Huntington's disease", "Juvenile-onset Huntington's disease", "Late-onset Huntington's disease" ], "questions": [ { "id": "evidence-kinds-q01", "text": "Which of these kinds and varieties hold for the sense of Huntington's disease this model covers, and on what evidence?", "kind": "provenance" } ] }, { "id": "evidence-identifiers", "name": "Identifiers and schemes", "description": "Recalled without web access and unsourced; every item is a lead to verify.", "evidence": [ { "scheme": "WHO ICD-10", "value_or_pattern": "G10", "note": "Huntington's disease; record the coding revision and any national modification." }, { "scheme": "OMIM", "value_or_pattern": "143100", "note": "Huntington disease phenotype entry." }, { "scheme": "HGNC gene symbol", "value_or_pattern": "HTT", "note": "Identifies the associated gene, not the disease or an individual expanded allele." } ], "questions": [ { "id": "evidence-identifiers-q01", "text": "Which of these identifiers and schemes hold for the sense of Huntington's disease this model covers, and on what evidence?", "kind": "provenance" } ] }, { "id": "evidence-standards-and-regulation", "name": "Standards and regulation", "description": "Recalled without web access and unsourced; every item is a lead to verify.", "evidence": [ "European Molecular Genetics Quality Network and Clinical Molecular Genetics Society: best-practice guidelines for molecular genetic testing of Huntington disease.", "Huntington Study Group: Unified Huntington's Disease Rating Scale (UHDRS), a standardized clinical assessment instrument.", "World Health Organization: ICD classification for disease coding; the revision must accompany the code." ], "questions": [ { "id": "evidence-standards-and-regulation-q01", "text": "Which of these standards and regulation hold for the sense of Huntington's disease this model covers, and on what evidence?", "kind": "provenance" } ] }, { "id": "evidence-real-world-use", "name": "Real-world use", "description": "Recalled without web access and unsourced; every item is a lead to verify.", "evidence": [ "Diagnostic evaluation combining clinical assessment, family history and molecular testing.", "Predictive testing of at-risk individuals within genetic counselling pathways.", "Longitudinal assessment of motor function, cognition, psychiatric symptoms and functional capacity.", "Clinical-trial classification and outcome measurement.", "Care planning for mobility, communication, swallowing, nutrition and increasing support needs." ], "questions": [ { "id": "evidence-real-world-use-q01", "text": "Which of these real-world use hold for the sense of Huntington's disease this model covers, and on what evidence?", "kind": "provenance" } ] }, { "id": "evidence-measurements", "name": "Typical measurements", "description": "Recalled without web access and unsourced; every item is a lead to verify.", "evidence": [ { "quantity": "HTT CAG-repeat length", "typical_range": "27-35 is the intermediate range, generally not disease-causing in the carrier but potentially unstable in transmission; 36-39 has reduced penetrance; 40 or more is conventionally classified as fully penetrant over a normal lifespan.", "unit": "CAG repeats" }, { "quantity": "Age at clinical onset", "typical_range": "Commonly 30-50, with substantial variation; juvenile onset is before 20.", "unit": "years" }, { "quantity": "UHDRS Total Motor Score", "typical_range": "Instrument range 0-124; higher scores indicate greater motor impairment.", "unit": "points" }, { "quantity": "UHDRS Total Functional Capacity", "typical_range": "Instrument range 0-13; lower scores indicate greater functional impairment.", "unit": "points" } ], "questions": [ { "id": "evidence-measurements-q01", "text": "Which of these typical measurements hold for the sense of Huntington's disease this model covers, and on what evidence?", "kind": "provenance" } ] }, { "id": "evidence-failure-modes-and-hazards", "name": "Failure modes and hazards", "description": "Recalled without web access and unsourced; every item is a lead to verify.", "evidence": [ "Progressive swallowing impairment can cause aspiration and malnutrition; motor impairment increases falls risk.", "Depression, behavioural changes and suicide risk require attention throughout the disease course.", "Equating an expanded allele with currently manifest disease confuses genetic status with clinical diagnosis.", "Repeat length cannot precisely predict an individual's onset age, symptom pattern or rate of progression.", "Predictive genetic results have implications for relatives, reproductive decisions, privacy and potential discrimination." ], "questions": [ { "id": "evidence-failure-modes-and-hazards-q01", "text": "Which of these failure modes and hazards hold for the sense of Huntington's disease this model covers, and on what evidence?", "kind": "provenance" } ] }, { "id": "evidence-regional-variation", "name": "Regional variation", "description": "Recalled without web access and unsourced; every item is a lead to verify.", "evidence": [ "Reported prevalence differs substantially by ancestry and geography; comparisons require a specified population, year and ascertainment method.", "Access to molecular testing, genetic counselling and multidisciplinary care varies between health systems.", "Predictive-testing practices and protections concerning genetic information differ by jurisdiction." ], "questions": [ { "id": "evidence-regional-variation-q01", "text": "Which of these regional variation hold for the sense of Huntington's disease this model covers, and on what evidence?", "kind": "provenance" } ] }, { "id": "evidence-neighbours", "name": "Neighbouring kinds and how to tell them apart", "description": "Recalled without web access and unsourced; every item is a lead to verify.", "evidence": [ { "name": "Huntington disease-like 2", "difference": "A clinically overlapping inherited disorder associated with a JPH3 repeat expansion rather than the pathogenic HTT expansion." }, { "name": "Wilson disease", "difference": "An ATP7B-related copper-metabolism disorder distinguished through copper studies, clinical findings and molecular testing." }, { "name": "Chorea", "difference": "A movement phenotype with many causes, rather than a specific inherited neurodegenerative disease; chorea alone does not establish Huntington's disease." }, { "name": "Premanifest HTT expansion-carrier status", "difference": "Describes an individual carrying a disease-associated expansion before manifest clinical disease; classification depends on the clinical or research framework used." } ], "questions": [ { "id": "evidence-neighbours-q01", "text": "Which of these neighbouring kinds and how to tell them apart hold for the sense of Huntington's disease this model covers, and on what evidence?", "kind": "provenance" } ] } ] } ] } ] }, "openQuestions": [ "Which diagnostic and staging authorities should govern this publication, and how should differences between clinical manifestation criteria and research classifications be represented?", "What are the verified ICD-10, ICD-11 and SNOMED CT mappings in the intended jurisdictions and releases, including separate handling of predictive genetic findings?", "Which laboratory guidance best resolves borderline repeat measurements, repeat interruptions and discordant genotype-phenotype findings?", "Which contemporary population studies provide defensible prevalence and incidence estimates, with explicit ascertainment and representation of juvenile disease?", "Which current guidelines support symptom management, predictive testing in minors and emerging interventions, and what remains investigational?" ], "statistics": { "bundles": 6, "layers": 11, "findings": 19, "questions": 29 } }, "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 Huntington's disease, record what state it is in, and decide what may be done with it.", "whatItIs": "Enable an agent to recognise Huntington's disease, distinguish inherited susceptibility from clinical manifestation, assess progression, and identify evidence-supported assessment and care actions.", "characteristics": { "substance": "information", "origin": "conceptual", "agency": "inert" }, "whatYouCanDoWithIt": [ "read and interpreted" ], "distinguishingFeatures": [ "Names folded into this entry, which a task may need to split apart again: juvenile Huntington disease.", "1 finer distinctions are held as aliases rather than separate entries, because telling them apart needs a task that asks for it.", "Described in 66 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 Huntington's disease, and on what evidence are they told apart?" ], "whatItIsMadeOf": "content that has to be carried by something else", "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": [ "read it and act on what it says" ], "howItIsRecognised": [ "Recognised by criteria applied to signs and findings, not by appearance. Two conditions can look identical and be distinguished only by test." ], "relatedModels": [ { "relation": "covers", "note": "Finer kinds folded into this entry because telling them apart needs a task that asks for it. Each is a model waiting to be split out when one does.", "targets": [ "juvenile Huntington disease" ] } ], "standing": "Described in 66 Wikipedia languages, which measures how widely it is written about rather than how important or how common it is. 1 finer distinctions are held inside this entry as names rather than as separate models.", "structure": { "bundles": [ { "id": "identity-and-classification", "name": "Identity, naming and classification", "description": "How an agent tells one Huntington's disease from another, and a Huntington's 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 Huntington's 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 Huntington's 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 Huntington's 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 Huntington's 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 Huntington's 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 Huntington's 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 Huntington's 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 Huntington's 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 Huntington's 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 Huntington's 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 Huntington's disease from the things most often confused with it.", "questions": [ { "id": "distinguishing-features-q01", "text": "What identifies and describes what distinguishes a Huntington's 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 Huntington's 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 Huntington's 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 Huntington's 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 Huntington's disease between them.", "questions": [ { "id": "stages-and-transitions-q01", "text": "What identifies and describes the lifecycle of a Huntington's 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 Huntington's 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 Huntington's 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 Huntington's disease, how often and by whom.", "findings": [ { "id": "observation-record", "name": "Observation record", "description": "How an observation of a Huntington's 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 Huntington's 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 Huntington's 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 Huntington's disease is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] } ] }, { "id": "content-and-access", "name": "Content, encoding and access", "description": "What a Huntington's disease says, how it is encoded and who may read it.", "rationale": "An informational thing carries content that can be copied, versioned and withheld, none of which its physical carrier explains.", "layers": [ { "id": "content-and-encoding", "name": "Content and encoding", "description": "The content itself, its format and its language.", "findings": [ { "id": "content-and-format", "name": "Content, format and language", "description": "What a Huntington's disease contains and in what form it is held.", "questions": [ { "id": "content-and-format-q01", "text": "What identifies and describes the content of a Huntington's disease, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "content-and-format-q02", "text": "Who or what asserted this about the content of a Huntington's disease, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "content-and-format-q03", "text": "What may an agent decide or do once the content of a Huntington's disease is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] }, { "id": "access-and-rights", "name": "Access, rights and retention", "description": "Who may read, copy or change it, and for how long it is kept.", "findings": [ { "id": "access-rules", "name": "Access rules and retention", "description": "The permissions attached to a Huntington's disease and the period it survives.", "questions": [ { "id": "access-rules-q01", "text": "What identifies and describes access to a Huntington's disease, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "access-rules-q02", "text": "Who or what asserted this about access to a Huntington's disease, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "access-rules-q03", "text": "What may an agent decide or do once access to a Huntington's 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 Huntington's 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 Huntington's 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 Huntington's 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 Huntington's 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 Huntington's 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 Huntington's 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 Huntington's 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 Huntington's disease and how confident it is.", "questions": [ { "id": "claim-provenance-q01", "text": "What identifies and describes a claim about a Huntington's 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 Huntington's 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 Huntington's 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 Huntington's disease is retired without being erased.", "questions": [ { "id": "validity-and-supersession-q01", "text": "What identifies and describes the validity of a claim about a Huntington's 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 Huntington's 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 Huntington's disease is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] } ] } ] }, "statistics": { "bundles": 6, "layers": 12, "findings": 14, "questions": 38 } } } }