{ "model": { "rank": 5353, "code": "thing-q185034", "model_id": "vr.tr.sickle-cell-disease", "name": "sickle-cell disease", "purpose": "Enable an agent to recognise sickle-cell disease, represent its genotype and evolving manifestations, and identify care actions that require clinical review.", "family": "Thing Registry", "category": "Information and virtual systems", "status": "research-draft", "kind": "thing", "plane": "INF", "domain": "INF.KNW", "industry": "", "version": "", "url": "/models/thing/q185034/", "tier": 2, "score": 68, "payload": { "layer": "wikidata", "aliases": [ "Sickle cell disease in Burkina Faso", "sickle-cell/Hb-C disease with crisis", "Sickle cell trait", "sickle cell disease associated with an other hemoglobin anomaly", "hereditary persistence of fetal hemoglobin-sickle cell disease syndrome", "Sickle cell nephropathy", "vaso-occlusive crisis", "sickle cell retinopathy" ], "aliasCount": 8, "merged": 8, "knownIn": 68, "facets": null, "markers": [], "lexicalClass": "", "senseRank": null, "alsoRegisteredAs": null, "source": { "dataset": "wikidata", "item": "Q185034", "url": "https://www.wikidata.org/wiki/Q185034", "license": "CC0 1.0" } }, "research": { "vercy": "1.0-draft", "publication": { "status": "research-draft", "adjudicationStatus": "unreviewed", "publishableCanonical": false, "generatedAt": "2026-09-09T22:11:44Z", "providers": [ "Codex" ], "breadth": "recalled by Codex without web access - no source was read", "missingProviders": [], "pass": 2, "cost": { "grok": { "seconds": 26.8, "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: 01a08839-0c16-7f82-8766-4a67387f50b7\n--------\nuser\nDescribe what is already known about one registered thing. Answer as JSON only, no prose around it.\n\nThing: sickle-cell disease\nSense to describe: (none recorded)\nDomain code: XCT.STA\nAlso known as: (none)\n\n\nContext for this batch of 1001 things:\n# Batch 005: ", "usd": 0, "recall": true }, "codex": { "seconds": 69.4, "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: 01a08839-0c0c-74b2-895c-cdef33f6acd4\n--------\nuser\nYou are drafting a Vercy meta-model for one registered thing. Answer as JSON only, no prose around it.\n\nThing: sickle-cell disease\nRegistry id: vr.tr.sickle-cell-disease\nPlane / domain: XCT / XCT.STA\nRegistry definition: (none recorded)\nNames folded into this " } } }, "metaModel": { "id": "THING-Q185034", "registryId": "vr.tr.sickle-cell-disease", "name": "sickle-cell disease", "version": "0.1.0-research.1", "entryKind": "thing", "family": "Thing Registry", "domain": [ "XCT.STA" ], "status": "research-draft" }, "canonicalUrl": "https://ver.cy/models/thing/q185034/", "model": { "registry_id": "vr.tr.sickle-cell-disease", "name": "sickle-cell disease", "purpose": "Enable an agent to recognise sickle-cell disease, represent its genotype and evolving manifestations, and identify care actions that require clinical review.", "definition": "Sickle-cell disease is a group of inherited haemoglobin disorders in which haemoglobin S, produced by an HBB variant and inherited with another disease-causing HBB allele, causes red-cell sickling, chronic haemolysis and vaso-occlusion with variable multisystem complications.", "scope_statement": "This model owns sickle-cell disease as an inherited group of haemoglobin disorders involving haemoglobin S, including subtype, diagnostic evidence, disease activity, cumulative injury and treatment-modified state; it distinguishes the condition from the person, diagnostic assertion and episode of care.", "in_scope": [ "Disease identity and clinically meaningful haemoglobin genotype", "Diagnostic evidence, uncertainty and versioned terminology mappings", "Sickling, haemolysis and vaso-occlusive disease activity", "Acute complications, longitudinal course and cumulative organ injury", "Prevention, disease-modifying treatment and response assessment", "Population and care-access context needed to interpret disease burden" ], "out_of_scope": [ "The patient's complete demographic and medical record", "Sickle-cell trait as an independent carrier-state model", "Other haemoglobin disorders except where needed for differential diagnosis or compound genotypes", "Individual visits, admissions and billing transactions", "Laboratory instruments, assay procedures and specimen logistics", "Independent models of medicines, transplantation procedures and gene-therapy products" ], "distinguishing_features": [ "The disease group includes HbSS, HbSC and HbS/beta-thalassaemia; identifying haemoglobin S alone does not establish which disease subtype is present.", "Sickle-cell trait typically involves one HbS allele and one normal beta-globin allele and must not be equated with sickle-cell disease.", "Sickle-cell anaemia commonly denotes HbSS, with some conventions also including HbS/beta-zero-thalassaemia; the model must record the convention rather than treat that term as universally synonymous with the whole disease group.", "Anaemia, pain or sickled cells on a blood film alone do not establish the disease; haemoglobin analysis and, where needed, molecular evidence must support classification.", "The inherited disease persists between acute events; a pain episode or acute chest syndrome is a manifestation, not a replacement identity for the underlying condition." ], "characteristics": [ { "name": "Haemoglobin genotype", "kind": "category", "unit_or_values": "HbSS, HbSC, HbS/beta-zero-thalassaemia, HbS/beta-plus-thalassaemia, other specified sickling genotype, unresolved", "why_it_matters": "Separates disease subtypes and informs interpretation of expected manifestations without assuming an individual's severity." }, { "name": "Diagnostic assertion status", "kind": "state", "unit_or_values": "Screen-positive, suspected, confirmed, disputed, reclassified; with evidence and date", "why_it_matters": "Prevents a screening result or provisional code from becoming an unsupported confirmed diagnosis." }, { "name": "Haemoglobin fractions", "kind": "measurement", "unit_or_values": "HbS, HbF, HbA and HbA2 as percentages, with assay, date and treatment context", "why_it_matters": "Supports subtype interpretation and treatment monitoring; transfusion and treatment can alter the observed pattern." }, { "name": "Haemoglobin concentration relative to baseline", "kind": "measurement", "unit_or_values": "g/dL, with usual range for the individual, sampling date and recent transfusion history", "why_it_matters": "Distinguishes chronic anaemia from an acute fall requiring assessment." }, { "name": "Haemolysis evidence", "kind": "measurement", "unit_or_values": "Reticulocyte count, bilirubin and lactate dehydrogenase, each with units, reference interval and date", "why_it_matters": "Characterises haemolytic activity while preserving the limitations of nonspecific markers." }, { "name": "Vaso-occlusive pain burden", "kind": "measurement", "unit_or_values": "Episodes and pain days per stated observation period, distinguishing home-managed and healthcare-attended events", "why_it_matters": "Captures burden that admission counts alone can miss." }, { "name": "Current complication status", "kind": "state", "unit_or_values": "Absent, suspected, confirmed, resolving or historical for each named complication", "why_it_matters": "Separates acute clinical concerns from established history and chronic injury." }, { "name": "Organ involvement", "kind": "state", "unit_or_values": "Organ-specific findings, functional measurements, assessment dates and uncertainty", "why_it_matters": "Represents cumulative injury without imposing a single universal disease stage." }, { "name": "Treatment exposure and response", "kind": "relation", "unit_or_values": "Links to preventive care, disease-modifying medicines, transfusion programmes, transplantation or gene therapy and their observed outcomes", "why_it_matters": "Makes disease measurements interpretable in the context of interventions." }, { "name": "Terminology mapping", "kind": "relation", "unit_or_values": "Code, label, coding system, release or national modification, mapping scope and verification source", "why_it_matters": "Prevents broad disease codes from being mistaken for genotype-specific or complication-specific assertions." } ], "affordances": [ "Check whether diagnostic evidence supports sickle-cell disease and the asserted subtype.", "Distinguish inherited disease identity from current activity, acute complications and residual injury.", "Compare laboratory and symptom trajectories with the individual's baseline and treatment context.", "Flag reported features for urgent clinician assessment using an identified, applicable clinical protocol.", "Identify missing surveillance, prevention or treatment-review evidence against a versioned guideline.", "Summarise burden and treatment response while exposing uncertain attribution and incomplete observation." ] }, "sources": [], "structure": { "bundles": [ { "id": "identity-and-diagnostic-evidence", "name": "Identity and diagnostic evidence", "description": "Establishes which sickling disorder is represented and how confidently it has been identified.", "rationale": "Trait, disease subtypes and terminology labels can be confused, especially when laboratory patterns have been altered by treatment.", "layers": [ { "id": "genotype-and-disease-boundary", "name": "Genotype and disease boundary", "description": "Separates the disease group, its subtypes and neighbouring carrier states.", "findings": [ { "id": "subtype-supported-by-evidence", "name": "Subtype supported by evidence", "description": "Record the asserted genotype, supporting evidence and meaning of any narrower label such as sickle-cell anaemia.", "questions": [ { "text": "Which haemoglobin genotype is asserted, and what evidence distinguishes it from sickle-cell trait or another haemoglobin disorder?", "kind": "definition", "id": "subtype-supported-by-evidence-q01" }, { "text": "Does the recorded term denote the whole disease group or a specified subtype under the source's terminology convention?", "kind": "boundary", "id": "subtype-supported-by-evidence-q02" } ] } ] }, { "id": "confirmation-and-code-provenance", "name": "Confirmation and code provenance", "description": "Preserves the origin and limitations of diagnostic assertions and terminology mappings.", "findings": [ { "id": "interpretable-diagnostic-record", "name": "Interpretable diagnostic record", "description": "Distinguish screening from confirmation and retain assay, age, treatment and coding context.", "questions": [ { "text": "Which screening, haemoglobin-analysis or molecular results support confirmation, and could age, recent transfusion or prior treatment affect their interpretation?", "kind": "provenance", "id": "interpretable-diagnostic-record-q01" }, { "text": "Which issuing body's diagnostic guidance and which ICD or SNOMED CT release support the assertion and its mapping?", "kind": "provenance", "id": "interpretable-diagnostic-record-q02" } ] } ] } ] }, { "id": "sickling-and-haemolytic-state", "name": "Sickling and haemolytic state", "description": "Represents the biological processes and measurements underlying current disease expression.", "rationale": "Genotype alone cannot describe current anaemia, haemolysis or the effects of haemoglobin composition and treatment.", "layers": [ { "id": "haemoglobin-composition", "name": "Haemoglobin composition", "description": "Connects HbS-related sickling with measured haemoglobin fractions and their modifiers.", "findings": [ { "id": "haemoglobin-fraction-context", "name": "Haemoglobin fraction context", "description": "Record haemoglobin fractions as contextual observations rather than a standalone severity score.", "questions": [ { "text": "What are the measured HbS, HbF, HbA and HbA2 fractions, and when and by which method were they measured?", "kind": "measurement", "id": "haemoglobin-fraction-context-q01" }, { "text": "Which genotype, age-related factors, transfusions or disease-modifying treatments are needed to interpret those fractions?", "kind": "boundary", "id": "haemoglobin-fraction-context-q02" } ] } ] }, { "id": "anaemia-and-haemolysis", "name": "Anaemia and haemolysis", "description": "Distinguishes baseline haemolytic anaemia from an acute change or an additional cause.", "findings": [ { "id": "baseline-and-acute-deviation", "name": "Baseline and acute deviation", "description": "Interpret haemoglobin and haemolysis measurements against the individual's established baseline.", "questions": [ { "text": "How do haemoglobin concentration, reticulocytes and haemolysis markers compare with the individual's baseline?", "kind": "measurement", "id": "baseline-and-acute-deviation-q01" }, { "text": "Does an acute change require clinical evaluation for possibilities such as sequestration, marrow suppression, bleeding or a transfusion-related reaction?", "kind": "action", "id": "baseline-and-acute-deviation-q02" } ] } ] } ] }, { "id": "vaso-occlusion-and-acute-complications", "name": "Vaso-occlusion and acute complications", "description": "Represents acute manifestations, their evidence and the need for timely clinical assessment.", "rationale": "Pain events and other acute complications differ in definition, urgency and evidential requirements.", "layers": [ { "id": "pain-events-and-daily-burden", "name": "Pain events and daily burden", "description": "Separates acute vaso-occlusive pain from persistent pain and alternative causes.", "findings": [ { "id": "pain-phenotype-and-observation", "name": "Pain phenotype and observation", "description": "Capture episode characteristics and burden across home and healthcare settings.", "questions": [ { "text": "What evidence supports attribution of this pain to an acute vaso-occlusive event, persistent pain or another cause?", "kind": "boundary", "id": "pain-phenotype-and-observation-q01" }, { "text": "How many pain days and discrete episodes occurred in the stated period, and which were managed outside healthcare facilities?", "kind": "measurement", "id": "pain-phenotype-and-observation-q02" } ] } ] }, { "id": "time-critical-complications", "name": "Time-critical complications", "description": "Tracks suspected or confirmed acute chest syndrome, stroke, serious infection, sequestration and priapism.", "findings": [ { "id": "complication-evidence-and-escalation", "name": "Complication evidence and escalation", "description": "Keep symptoms, diagnostic status and protocol-based escalation distinct.", "questions": [ { "text": "Which symptoms, examination findings, imaging or laboratory evidence support each suspected complication, and when did they begin?", "kind": "provenance", "id": "complication-evidence-and-escalation-q01" }, { "text": "What urgent assessment or escalation does the applicable clinical protocol require, and has that action been documented?", "kind": "action", "id": "complication-evidence-and-escalation-q02" } ] } ] } ] }, { "id": "longitudinal-injury-and-lived-burden", "name": "Longitudinal injury and lived burden", "description": "Represents cumulative organ effects, function and variation across the life course.", "rationale": "Low recent acute-event frequency does not establish low cumulative injury or low daily burden.", "layers": [ { "id": "organ-specific-course", "name": "Organ-specific course", "description": "Tracks cerebral, renal, retinal, cardiopulmonary, splenic and musculoskeletal involvement.", "findings": [ { "id": "organ-injury-and-surveillance", "name": "Organ injury and surveillance", "description": "Record organ-specific evidence and applicable surveillance without inventing a universal staging system.", "questions": [ { "text": "Which organ abnormalities are established, what supports their attribution to sickle-cell disease, and how have they changed?", "kind": "measurement", "id": "organ-injury-and-surveillance-q01" }, { "text": "Which surveillance assessments are indicated by the cited guidance for this age, genotype and clinical history?", "kind": "action", "id": "organ-injury-and-surveillance-q02" } ] } ] }, { "id": "function-and-population-context", "name": "Function and population context", "description": "Connects daily burden and access to care with appropriately bounded population evidence.", "findings": [ { "id": "burden-with-observation-context", "name": "Burden with observation context", "description": "Represent fatigue, participation and care barriers without treating healthcare utilisation as a complete severity measure.", "questions": [ { "text": "What fatigue, mobility, school, work or daily-activity limitations are reported, using which instrument and observation period?", "kind": "measurement", "id": "burden-with-observation-context-q01" }, { "text": "For any prevalence or outcome estimate, what population, geography, year, case definition and ascertainment method apply?", "kind": "provenance", "id": "burden-with-observation-context-q02" }, { "text": "Could care-access barriers or missing home-managed events explain apparent differences in recorded burden?", "kind": "boundary", "id": "burden-with-observation-context-q03" } ] } ] } ] }, { "id": "prevention-treatment-and-response", "name": "Prevention, treatment and response", "description": "Connects disease-specific care options with eligibility evidence, exposure, safety and outcomes.", "rationale": "Care depends on genotype, age, complications, treatment history and local guidance, and interventions change how disease state is interpreted.", "layers": [ { "id": "preventive-and-disease-modifying-care", "name": "Preventive and disease-modifying care", "description": "Tracks infection prevention, hydroxyurea and other therapies, and transfusion programmes with their indications.", "findings": [ { "id": "care-indication-and-response", "name": "Care indication and response", "description": "Link each intervention to a documented clinical purpose and relevant benefit and safety measures.", "questions": [ { "text": "Which preventive measures and disease-modifying treatments are documented, and what guideline or clinical indication supports each?", "kind": "provenance", "id": "care-indication-and-response-q01" }, { "text": "How have pain burden, acute chest events, anaemia and relevant safety measurements changed during the recorded exposure?", "kind": "measurement", "id": "care-indication-and-response-q02" }, { "text": "For transfusion exposure, are alloantibodies, reactions, iron burden and compatibility requirements available for clinical review?", "kind": "action", "id": "care-indication-and-response-q03" } ] } ] }, { "id": "potentially-curative-treatment-state", "name": "Potentially curative treatment state", "description": "Represents assessment and follow-up for haematopoietic stem-cell transplantation and gene therapy.", "findings": [ { "id": "eligibility-and-post-treatment-outcome", "name": "Eligibility and post-treatment outcome", "description": "Distinguish treatment candidacy, receipt, haematological response and persistent pre-existing injury.", "questions": [ { "text": "Which dated, jurisdiction-specific criteria and specialist assessment support candidacy for the particular transplantation or gene-therapy approach?", "kind": "action", "id": "eligibility-and-post-treatment-outcome-q01" }, { "text": "After treatment, what evidence establishes response, ongoing complications and required follow-up while preserving the original diagnostic history?", "kind": "measurement", "id": "eligibility-and-post-treatment-outcome-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 a researched or source-verified account; guideline currency and exact terminology should be checked.", "Confirm diagnostic interpretation against age, recent transfusion and treatment history; these can affect haemoglobin analysis.", "No prevalence estimate or universal measurement range is supplied because population, year, genotype, age and treatment materially affect them." ], "questions": [ { "id": "evidence-confidence-notes-q01", "text": "Which of these check these first hold for the sense of sickle-cell 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": [ "HbSS disease, commonly called sickle-cell anaemia", "HbSC disease", "HbS/β⁰-thalassaemia", "HbS/β⁺-thalassaemia", "HbS/D-Punjab disease", "HbS/O-Arab disease" ], "questions": [ { "id": "evidence-kinds-q01", "text": "Which of these kinds and varieties hold for the sense of sickle-cell 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": "D57", "note": "Sickle-cell disorders category; includes sickle-cell trait, so this category alone does not establish disease. Subcodes depend on genotype, complications and national modification." }, { "scheme": "HGNC gene symbol", "value_or_pattern": "HBB", "note": "Identifies the beta-globin gene, not the disease or a complete genotype." }, { "scheme": "Traditional haemoglobin variant nomenclature", "value_or_pattern": "HbS; β6 Glu→Val", "note": "Describes the sickle haemoglobin substitution using mature beta-globin numbering; HGVS protein numbering includes the initiating methionine." }, { "scheme": "SNOMED CT", "value_or_pattern": "Numeric concept identifiers", "note": "Distinguishes disease, genotypes and complications; an exact concept should be checked against the applicable edition." } ], "questions": [ { "id": "evidence-identifiers-q01", "text": "Which of these identifiers and schemes hold for the sense of sickle-cell 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": [ "World Health Organization ICD classification: coding requires the applicable revision and national modification.", "National Heart, Lung, and Blood Institute: Evidence-Based Management of Sickle Cell Disease, Expert Panel Report, 2014.", "American Society of Hematology: 2020 guidelines for sickle-cell disease transfusion support." ], "questions": [ { "id": "evidence-standards-and-regulation-q01", "text": "Which of these standards and regulation hold for the sense of sickle-cell 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": [ "Newborn screening followed by confirmatory haemoglobin analysis, with molecular testing where needed to resolve genotype.", "Genetic counselling that distinguishes affected individuals from carriers and explains reproductive inheritance.", "Longitudinal care addressing haemolysis, pain, infection prevention and organ complications.", "Disease-modifying treatment and assessment for potentially curative therapies in suitable patients.", "Registries and clinical studies that distinguish the underlying disease from individual complications and episodes of care." ], "questions": [ { "id": "evidence-real-world-use-q01", "text": "Which of these real-world use hold for the sense of sickle-cell 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": [ "Vaso-occlusive episodes can cause severe pain and tissue ischaemia.", "Acute chest syndrome can cause rapidly progressive respiratory compromise.", "Cerebral vasculopathy can cause overt stroke or silent cerebral infarction.", "Functional asplenia increases susceptibility to severe infection, particularly from encapsulated bacteria.", "Splenic sequestration, aplastic crises and chronic haemolysis can cause or worsen anaemia." ], "questions": [ { "id": "evidence-failure-modes-and-hazards-q01", "text": "Which of these failure modes and hazards hold for the sense of sickle-cell 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": [ "Disease burden is especially substantial in sub-Saharan Africa, with additional longstanding affected populations in India, the Middle East and Mediterranean regions; migration gives it worldwide distribution.", "Genotype frequencies and modifying genetic factors vary across populations, influencing clinical patterns without determining an individual's course.", "Access to newborn screening, preventive care, transfusion services and specialist treatment varies substantially between health systems." ], "questions": [ { "id": "evidence-regional-variation-q01", "text": "Which of these regional variation hold for the sense of sickle-cell 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": "Sickle-cell trait", "difference": "Usually HbAS: one HbS allele and one normal beta-globin allele; carrier status is distinct from sickle-cell disease." }, { "name": "Sickle-cell anaemia", "difference": "A narrower term generally referring to HbSS disease; some clinical usage also groups HbS/β⁰-thalassaemia with it." }, { "name": "Beta-thalassaemia", "difference": "Defined by reduced or absent beta-globin production; it becomes a sickle-cell disease genotype when a beta-thalassaemia allele is inherited with HbS." }, { "name": "Vaso-occlusive episode", "difference": "An acute complication occurring in someone with the underlying disease, rather than the inherited condition itself." }, { "name": "Sickle-cell disease diagnosis", "difference": "The clinical assertion identifying the condition, supported by haemoglobin or genetic testing; the disease exists independently of when it is diagnosed." } ], "questions": [ { "id": "evidence-neighbours-q01", "text": "Which of these neighbouring kinds and how to tell them apart hold for the sense of sickle-cell disease this model covers, and on what evidence?", "kind": "provenance" } ] } ] } ] } ] }, "openQuestions": [ "Which authoritative diagnostic sources and terminology conventions should govern subtype confirmation and the boundary of the term sickle-cell anaemia?", "What exact ICD-10 national modification, ICD-11 release and SNOMED CT edition mappings apply to the disease group, its genotypes and its complication states?", "Which age-, genotype- and jurisdiction-specific guidelines should supply surveillance schedules, escalation criteria and treatment eligibility?", "Which validated measures best capture home-managed pain, persistent pain, functional burden and organ progression without imposing an unsupported single severity stage?", "Which population- and year-specific epidemiological sources, and which long-term post-transplantation or gene-therapy evidence, are adequate for the intended deployment?" ], "statistics": { "bundles": 6, "layers": 11, "findings": 18, "questions": 30 } }, "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 sickle-cell disease, record what state it is in, and decide what may be done with it.", "whatItIs": "Enable an agent to recognise sickle-cell disease, represent its genotype and evolving manifestations, and identify care actions that require clinical review.", "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: Sickle cell disease in Burkina Faso, sickle-cell/Hb-C disease with crisis, Sickle cell trait, sickle cell disease associated with an other hemoglobin anomaly, hereditary persistence of fetal hemoglobin-sickle cell disease syndrome, Sickle cell nephropathy, vaso-occlusive crisis, sickle cell retinopathy.", "8 finer distinctions are held as aliases rather than separate entries, because telling them apart needs a task that asks for it.", "Described in 68 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 sickle-cell 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": [ "Sickle cell disease in Burkina Faso", "sickle-cell/Hb-C disease with crisis", "Sickle cell trait", "sickle cell disease associated with an other hemoglobin anomaly", "hereditary persistence of fetal hemoglobin-sickle cell disease syndrome", "Sickle cell nephropathy", "vaso-occlusive crisis", "sickle cell retinopathy" ] } ], "standing": "Described in 68 Wikipedia languages, which measures how widely it is written about rather than how important or how common it is. 8 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 sickle-cell disease from another, and a sickle-cell 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 sickle-cell 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 sickle-cell 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 sickle-cell 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 sickle-cell 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 sickle-cell 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 sickle-cell 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 sickle-cell 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 sickle-cell 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 sickle-cell 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 sickle-cell 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 sickle-cell disease from the things most often confused with it.", "questions": [ { "id": "distinguishing-features-q01", "text": "What identifies and describes what distinguishes a sickle-cell 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 sickle-cell 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 sickle-cell 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 sickle-cell 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 sickle-cell disease between them.", "questions": [ { "id": "stages-and-transitions-q01", "text": "What identifies and describes the lifecycle of a sickle-cell 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 sickle-cell 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 sickle-cell 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 sickle-cell disease, how often and by whom.", "findings": [ { "id": "observation-record", "name": "Observation record", "description": "How an observation of a sickle-cell 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 sickle-cell 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 sickle-cell 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 sickle-cell 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 sickle-cell 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 sickle-cell disease contains and in what form it is held.", "questions": [ { "id": "content-and-format-q01", "text": "What identifies and describes the content of a sickle-cell 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 sickle-cell 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 sickle-cell 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 sickle-cell disease and the period it survives.", "questions": [ { "id": "access-rules-q01", "text": "What identifies and describes access to a sickle-cell 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 sickle-cell 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 sickle-cell 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 sickle-cell 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 sickle-cell 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 sickle-cell 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 sickle-cell 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 sickle-cell 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 sickle-cell 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 sickle-cell 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 sickle-cell disease and how confident it is.", "questions": [ { "id": "claim-provenance-q01", "text": "What identifies and describes a claim about a sickle-cell 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 sickle-cell 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 sickle-cell 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 sickle-cell disease is retired without being erased.", "questions": [ { "id": "validity-and-supersession-q01", "text": "What identifies and describes the validity of a claim about a sickle-cell 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 sickle-cell 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 sickle-cell 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 } } } }