{ "model": { "rank": 6476, "code": "thing-q208562", "model_id": "vr.tr.marfan-syndrome", "name": "Marfan syndrome", "purpose": "Enable an AI agent to organize evidence for recognizing Marfan syndrome, assess its manifestations over time, and identify appropriate clinician-reviewed surveillance, referral, and management decisions.", "family": "Thing Registry", "category": "Information and virtual systems", "status": "research-draft", "kind": "thing", "plane": "INF", "domain": "INF.MED", "industry": "", "version": "", "url": "/models/thing/q208562/", "tier": 2, "score": 60, "payload": { "layer": "wikidata", "aliases": [ "MASS syndrome" ], "aliasCount": 1, "merged": 1, "knownIn": 60, "facets": null, "markers": [], "lexicalClass": "", "senseRank": null, "alsoRegisteredAs": null, "source": { "dataset": "wikidata", "item": "Q208562", "url": "https://www.wikidata.org/wiki/Q208562", "license": "CC0 1.0" } }, "research": { "vercy": "1.0-draft", "publication": { "status": "research-draft", "adjudicationStatus": "unreviewed", "publishableCanonical": false, "generatedAt": "2026-09-07T14:48:05Z", "providers": [ "Codex", "Grok" ], "missingProviders": [], "pass": 2, "cost": { "grok": { "usd": 0.00872848, "turns": 1, "seconds": 84.8, "error": null }, "codex": { "seconds": 92, "error": "Reading additional input from stdin...\nOpenAI Codex v0.153.3\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: 01a07c53-bbdb-7873-9315-09e7e1c76637\n--------\nuser\nYou are drafting a Vercy meta-model for one registered thing. Answer as JSON only, no prose around it.\n\nThing: Marfan syndrome\nRegistry id: vr.tr.marfan-syndrome\nPlane / domain: XCT / XCT.STA\nRegistry definition: (none recorded)\nNames folded into this entry: (" } } }, "metaModel": { "id": "THING-Q208562", "registryId": "vr.tr.marfan-syndrome", "name": "Marfan syndrome", "version": "0.1.0-research.1", "entryKind": "thing", "family": "Thing Registry", "domain": [ "XCT.STA" ], "status": "research-draft" }, "canonicalUrl": "https://ver.cy/models/thing/q208562/", "model": { "registry_id": "vr.tr.marfan-syndrome", "name": "Marfan syndrome", "purpose": "Enable an AI agent to organize evidence for recognizing Marfan syndrome, assess its manifestations over time, and identify appropriate clinician-reviewed surveillance, referral, and management decisions.", "definition": "Marfan syndrome is an autosomal-dominant heritable connective-tissue disorder, usually caused by pathogenic variants in FBN1, that produces a variable combination of aortic-root aneurysm or dissection, ectopia lentis, and a systemic skeletal and dural phenotype scored by the revised Ghent nosology.", "scope_statement": "This model owns the syndrome-level diagnostic evidence, longitudinal manifestations, inherited-risk relationships, and care constraints for vr.tr.marfan-syndrome in XCT / XCT.STA, linking to separate models for individual complications, investigations, and treatments.", "in_scope": [ "Diagnostic status and the evidence supporting or challenging a Marfan syndrome classification.", "Aortic, valvular, ocular, skeletal, and other connective-tissue manifestations attributed to the syndrome.", "FBN1 findings, their interpretation, and relevant family relationships.", "Manifestation trajectories, including incomplete childhood presentations and severe early-onset disease.", "Syndrome-specific surveillance, escalation, activity, and reproductive-care considerations." ], "out_of_scope": [ "Independent diagnostic and management models for Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, and other differential diagnoses.", "Laboratory sequencing methods and general variant-classification machinery.", "Full episode models for aortic dissection, retinal detachment, pneumothorax, or heart failure.", "Drug prescribing, dosing, and surgical procedure specifications.", "The person's complete medical record and unrelated conditions." ], "distinguishing_features": [ "Evaluate the combination of aortic-root findings, ectopia lentis, systemic features, and family history through a documented diagnostic pathway; tall stature alone is insufficient. [GeneReviews](https://www.ncbi.nlm.nih.gov/books/NBK1335/)", "Check whether an FBN1 result supports Marfan syndrome specifically rather than assuming every FBN1-associated phenotype is Marfan syndrome. [GeneReviews](https://www.ncbi.nlm.nih.gov/books/NBK1335/)", "For suspected Loeys-Dietz syndrome or vascular Ehlers-Danlos syndrome, require a recorded differential assessment and relevant molecular evidence before resolving the classification. [GeneReviews](https://www.ncbi.nlm.nih.gov/books/NBK1335/)", "Distinguish an incomplete childhood presentation from a settled alternative diagnosis by recording age and serial reassessment. [GeneReviews](https://www.ncbi.nlm.nih.gov/books/NBK1335/)" ], "characteristics": [ { "name": "Diagnostic standing", "kind": "state", "unit_or_values": "suspected | provisional | confirmed | disputed | excluded; dated and attributed", "why_it_matters": "Separates recognition signals from a clinician-established diagnosis." }, { "name": "Diagnostic pathway", "kind": "category", "unit_or_values": "Named criteria and version, family-history branch, satisfied conditions, unresolved conditions", "why_it_matters": "Makes the classification auditable without reducing it to a single score." }, { "name": "FBN1 evidence", "kind": "relation", "unit_or_values": "Linked laboratory report, variant identity, classification, interpretation date, and phenotype association", "why_it_matters": "Preserves the evidence behind molecular attribution." }, { "name": "Aortic-root dimension", "kind": "measurement", "unit_or_values": "mm and dimensionless Z-score, with date, anatomical level, imaging method, body-size inputs, and reference equation", "why_it_matters": "Supports comparison while exposing measurement and normalization differences." }, { "name": "Aortic change", "kind": "measurement", "unit_or_values": "mm/year over a stated interval, with comparability assessment", "why_it_matters": "Distinguishes an observed trajectory from isolated or incompatible measurements." }, { "name": "Ectopia lentis assessment", "kind": "state", "unit_or_values": "present | absent on examination | indeterminate | not assessed; laterality and examination date", "why_it_matters": "Preserves an important diagnostic observation without equating missing evidence with absence." }, { "name": "Systemic feature score", "kind": "measurement", "unit_or_values": "Points under named criteria, with component evidence and assessment completeness", "why_it_matters": "Allows reconstruction of the score and detection of unsupported components." }, { "name": "Manifestation burden", "kind": "state", "unit_or_values": "Per manifestation: presence, severity, symptoms, functional impact, trajectory, and attribution confidence", "why_it_matters": "Avoids hiding different organ states behind one global severity label." }, { "name": "Family evidence", "kind": "relation", "unit_or_values": "Linked relative, relationship, verified diagnosis or variant, and relevant aortic-event history", "why_it_matters": "Supports diagnostic interpretation and family evaluation." }, { "name": "Care-context modifiers", "kind": "category", "unit_or_values": "Age and growth phase; pregnancy or postpartum status; prior aortic repair or dissection; planned physical demands", "why_it_matters": "Makes the circumstances of surveillance and intervention decisions explicit." } ], "affordances": [ "Assemble a diagnostic evidence summary and identify missing or conflicting observations for specialist review.", "Compare compatible aortic measurements and flag changes against the person's documented escalation criteria.", "Track due and overdue aortic, ophthalmic, and other manifestation-specific assessments.", "Identify relatives for whom clinician-led evaluation should be considered, subject to consent and access permissions.", "Prepare an attributed review of treatment tolerance, activity constraints, and reproductive-care needs.", "Route reported warning symptoms through an approved urgent-assessment pathway without asserting the cause." ] }, "sources": [ { "id": "genereviews-mfs", "title": "Marfan Syndrome", "url": "https://www.ncbi.nlm.nih.gov/books/NBK1335/", "what_it_supports": "Clinical definition, FBN1 genetics, neonatal form, management, and differential diagnosis as used in medical genetics practice.", "url_status": "live" }, { "id": "loeys-2010-ghent", "title": "The revised Ghent nosology for the Marfan syndrome", "url": "https://jmg.bmj.com/content/47/7/476", "what_it_supports": "Operational diagnostic criteria, systemic score, and distinction from related aortopathies and MASS phenotype.", "url_status": "blocked" }, { "id": "omim-154700", "title": "MARFAN SYNDROME; MFS", "url": "https://omim.org/entry/154700", "what_it_supports": "MIM phenotype number, FBN1 locus, allelic series, and historical naming.", "url_status": "blocked" }, { "id": "esc-2024-aorta", "title": "2024 ESC Guidelines for the management of peripheral arterial and aortic diseases", "url": "https://www.escardio.org/Guidelines/Clinical-Practice-Guidelines/Peripheral-Arterial-and-Aortic-Diseases", "what_it_supports": "Aortic surveillance thresholds, activity restriction, and beta-blocker or ARB medical therapy used in European practice.", "url_status": "live" } ], "structure": { "bundles": [ { "id": "diagnostic-identity", "name": "Diagnostic identity", "description": "Records why this presentation is classified as Marfan syndrome and what remains unresolved.", "rationale": "The registry name must be supported by an explicit diagnostic argument.", "layers": [ { "id": "criteria-evidence", "name": "Criteria evidence", "description": "Connects the diagnostic conclusion to observations and the criteria used.", "findings": [ { "id": "diagnostic-pathway", "name": "Diagnostic pathway", "description": "Record the clinician's conclusion, criteria version, applicable branch, and supporting evidence.", "questions": [ { "text": "Which diagnostic criteria and family-history branch were applied, and which conditions were satisfied?", "kind": "definition", "id": "diagnostic-pathway-q01" }, { "text": "Who established the conclusion, on what date, and from which examination, imaging, and laboratory reports?", "kind": "provenance", "id": "diagnostic-pathway-q02" } ] } ] }, { "id": "diagnostic-boundaries", "name": "Diagnostic boundaries", "description": "Preserves alternative explanations and reasons to revisit an incomplete classification.", "findings": [ { "id": "alternatives-and-reassessment", "name": "Alternatives and reassessment", "description": "Record competing diagnoses, discriminating evidence, and a reassessment condition.", "questions": [ { "text": "What evidence distinguishes this presentation from Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, MASS phenotype, isolated ectopia lentis, or nonsyndromic aortopathy?", "kind": "boundary", "id": "alternatives-and-reassessment-q01" }, { "text": "If classification remains provisional, which new observation or follow-up date should trigger reassessment?", "kind": "action", "id": "alternatives-and-reassessment-q02" } ] } ] } ] }, { "id": "aortic-and-cardiac-state", "name": "Aortic and cardiac state", "description": "Aortic-root enlargement and valve disease are important manifestations; retain their separate trajectories. [GeneReviews](https://www.ncbi.nlm.nih.gov/books/NBK1335/)", "rationale": "Cardiovascular decisions need anatomical, temporal, and treatment context.", "layers": [ { "id": "aortic-trajectory", "name": "Aortic trajectory", "description": "Organizes serial measurements by aortic segment and measurement convention.", "findings": [ { "id": "segment-measurements-and-change", "name": "Segment measurements and change", "description": "Record dimensions, normalization, comparability, prior events, and repaired anatomy.", "questions": [ { "text": "What are the dated root and other assessed aortic-segment dimensions, and which methods and reference equations produced them?", "kind": "measurement", "id": "segment-measurements-and-change-q01" }, { "text": "Which examinations are sufficiently comparable to estimate growth, and where does technique or repaired anatomy limit comparison?", "kind": "boundary", "id": "segment-measurements-and-change-q02" } ] } ] }, { "id": "cardiac-impact-and-escalation", "name": "Cardiac impact and escalation", "description": "Connects valve and ventricular findings with individualized aortic review decisions.", "findings": [ { "id": "cardiovascular-review-state", "name": "Cardiovascular review state", "description": "Record the specialist's review triggers; guideline decisions incorporate dimensions and additional risk features. [ACC/AHA guideline summary](https://www.acc.org/latest-in-cardiology/ten-points-to-remember/2022/11/01/12/21/2022-guideline-on-aortic-disease-2-gl-ad)", "questions": [ { "text": "What valve regurgitation, ventricular dysfunction, symptoms, or prior cardiovascular events are documented?", "kind": "measurement", "id": "cardiovascular-review-state-q01" }, { "text": "Which patient-specific findings trigger earlier imaging, multidisciplinary surgical review, or urgent assessment under the cited care plan?", "kind": "action", "id": "cardiovascular-review-state-q02" } ] } ] } ] }, { "id": "ocular-and-systemic-expression", "name": "Ocular and systemic expression", "description": "Records manifestations beyond the aorta as diagnostic evidence and sources of functional burden.", "rationale": "Aortic measurements alone cannot represent the person's syndrome state.", "layers": [ { "id": "ocular-expression", "name": "Ocular expression", "description": "Separates lens findings used in recognition from current visual-care needs.", "findings": [ { "id": "lens-and-visual-state", "name": "Lens and visual state", "description": "Retain ophthalmic findings, laterality, visual function, and previous procedures.", "questions": [ { "text": "Was ectopia lentis assessed by an appropriate ophthalmic examination, and what was recorded for each eye?", "kind": "provenance", "id": "lens-and-visual-state-q01" }, { "text": "What refractive error, visual limitation, retinal finding, glaucoma, or cataract currently requires follow-up?", "kind": "measurement", "id": "lens-and-visual-state-q02" } ] } ] }, { "id": "systemic-expression", "name": "Systemic expression", "description": "Preserves component observations and their impact beyond a diagnostic score.", "findings": [ { "id": "connective-tissue-burden", "name": "Connective-tissue burden", "description": "Record assessed skeletal, dural, pulmonary, and skin features without assuming every symptom is syndrome-related.", "questions": [ { "text": "Which systemic-score components were examined, what evidence supports each, and which remain unassessed?", "kind": "measurement", "id": "connective-tissue-burden-q01" }, { "text": "Which features cause pain, mobility or breathing limitations, or other functional effects, and how certain is their attribution to Marfan syndrome?", "kind": "boundary", "id": "connective-tissue-burden-q02" } ] } ] } ] }, { "id": "molecular-and-family-context", "name": "Molecular and family context", "description": "Links molecular interpretation to family evaluation while preserving uncertainty.", "rationale": "A genetic label needs its report context and cannot substitute for individual clinical assessment.", "layers": [ { "id": "molecular-interpretation", "name": "Molecular interpretation", "description": "Captures what testing established and the limits of that conclusion.", "findings": [ { "id": "variant-evidence-and-limits", "name": "Variant evidence and limits", "description": "Record reported variants, classifications, test coverage, and unresolved interpretation.", "questions": [ { "text": "Which FBN1 variant and classification were reported, by which laboratory, and with what evidence connecting it to this phenotype?", "kind": "provenance", "id": "variant-evidence-and-limits-q01" }, { "text": "What does a negative, uncertain, or discordant result leave unresolved, and is reinterpretation or further testing planned?", "kind": "boundary", "id": "variant-evidence-and-limits-q02" } ] } ] }, { "id": "family-evaluation", "name": "Family evaluation", "description": "Distinguishes verified familial findings from reported resemblance or unconfirmed history.", "findings": [ { "id": "pedigree-and-evaluation-status", "name": "Pedigree and evaluation status", "description": "Record relevant relationships, evidence quality, and clinician-led evaluation plans.", "questions": [ { "text": "Which relatives have a verified diagnosis, relevant variant, or documented aortic event, and which histories remain unconfirmed?", "kind": "provenance", "id": "pedigree-and-evaluation-status-q01" }, { "text": "Which relatives have an agreed evaluation pathway, and what consent or access limits govern use of their information?", "kind": "action", "id": "pedigree-and-evaluation-status-q02" } ] } ] } ] }, { "id": "surveillance-and-life-context", "name": "Surveillance and life context", "description": "Connects the syndrome state with follow-up and decisions during changing life circumstances.", "rationale": "An agent needs actionable review conditions as well as descriptive findings.", "layers": [ { "id": "surveillance-and-treatment-review", "name": "Surveillance and treatment review", "description": "Records the agreed monitoring schedule and evidence needed to assess ongoing management.", "findings": [ { "id": "monitoring-and-management-plan", "name": "Monitoring and management plan", "description": "Link assessments and treatments to their indication, responsible clinician, and review conditions.", "questions": [ { "text": "When are the next aortic and ophthalmic assessments due, and which findings would shorten those intervals?", "kind": "action", "id": "monitoring-and-management-plan-q01" }, { "text": "What treatment is prescribed for cardiovascular risk or other manifestations, and what response, tolerance, or adherence concerns require review?", "kind": "measurement", "id": "monitoring-and-management-plan-q02" } ] } ] }, { "id": "activity-reproduction-and-transitions", "name": "Activity, reproduction, and transitions", "description": "Preserves individualized plans for physical demands, reproductive care, and transfer between services.", "findings": [ { "id": "context-specific-care-constraints", "name": "Context-specific care constraints", "description": "Pregnancy and postpartum status affect aortic-care planning. [ACC/AHA guideline summary](https://www.acc.org/latest-in-cardiology/ten-points-to-remember/2022/11/01/12/21/2022-guideline-on-aortic-disease-2-gl-ad)", "questions": [ { "text": "What physical activities are planned, and which individualized limits or adaptations has the care team documented?", "kind": "action", "id": "context-specific-care-constraints-q01" }, { "text": "Do pregnancy planning, pregnancy, postpartum status, rapid growth, or transfer to adult care require updated imaging, medication review, or specialist coordination?", "kind": "action", "id": "context-specific-care-constraints-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-kinds", "name": "Kinds and varieties", "description": "Reported by the breadth pass; each item needs checking against its source before it becomes normative.", "evidence": [ "Classic Marfan syndrome (FBN1, revised Ghent-positive)", "Neonatal Marfan syndrome", "FBN1-related Marfan syndrome without ectopia lentis", "Marfan syndrome with predominant aortopathy", "Familial ectopia lentis (FBN1, limited systemic features)", "MASS phenotype (FBN1-related)", "Marfanoid-progeroid-lipodystrophy syndrome (FBN1)", "Likely Marfan syndrome pending molecular confirmation" ], "questions": [ { "id": "evidence-kinds-q01", "text": "Which of these kinds and varieties hold for the sense of Marfan syndrome this model covers, and on what evidence?", "kind": "provenance" } ] }, { "id": "evidence-identifiers", "name": "Identifiers and schemes", "description": "Reported by the breadth pass; each item needs checking against its source before it becomes normative.", "evidence": [ { "scheme": "Wikidata", "value_or_pattern": "Q190582", "note": "Item for Marfan syndrome." }, { "scheme": "OMIM", "value_or_pattern": "154700", "note": "Phenotype MIM number; gene MIM 134797 (FBN1)." }, { "scheme": "ORPHA", "value_or_pattern": "558", "note": "Orphanet disorder identifier." }, { "scheme": "ICD-10", "value_or_pattern": "Q87.4", "note": "Marfan syndrome (WHO ICD-10)." }, { "scheme": "ICD-11", "value_or_pattern": "LD28.01", "note": "Marfan syndrome in ICD-11." }, { "scheme": "MeSH", "value_or_pattern": "D008382", "note": "Medical Subject Heading." }, { "scheme": "MONDO", "value_or_pattern": "MONDO:0007947", "note": "Monarch Disease Ontology class." }, { "scheme": "GARD", "value_or_pattern": "6975", "note": "Genetic and Rare Diseases Information Center identifier." } ], "questions": [ { "id": "evidence-identifiers-q01", "text": "Which of these identifiers and schemes hold for the sense of Marfan syndrome this model covers, and on what evidence?", "kind": "provenance" } ] }, { "id": "evidence-standards-and-regulation", "name": "Standards and regulation", "description": "Reported by the breadth pass; each item needs checking against its source before it becomes normative.", "evidence": [ "Revised Ghent nosology (Loeys et al., Journal of Medical Genetics, 2010) - operational clinical diagnosis", "ACMG/AMP variant interpretation guidelines as applied to FBN1 (ClinGen FBN1 expert panel)", "2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease (American College of Cardiology / American Heart Association)", "2024 ESC Guidelines for the management of peripheral arterial and aortic diseases (European Society of Cardiology)", "GeneReviews clinical management recommendations (University of Washington / NCBI Bookshelf)", "ICD-10 Q87.4 and ICD-11 LD28.01 coding rules (WHO)" ], "questions": [ { "id": "evidence-standards-and-regulation-q01", "text": "Which of these standards and regulation hold for the sense of Marfan syndrome this model covers, and on what evidence?", "kind": "provenance" } ] }, { "id": "evidence-real-world-use", "name": "Real-world use", "description": "Reported by the breadth pass; each item needs checking against its source before it becomes normative.", "evidence": [ "Diagnosed in medical genetics or cardiology clinics from aortic-root dilation, ectopia lentis, family history, and a systemic Ghent score, then confirmed by FBN1 sequencing.", "Lifelong echocardiographic or CMR surveillance of the aortic root and ascending aorta to time elective valve-sparing or composite aortic-root replacement.", "Ophthalmology follow-up for lens subluxation, high myopia, and retinal detachment risk.", "Orthopaedic and physiotherapy care for scoliosis, pectus deformity, pes planus, and joint instability.", "Pregnancy counselling and high-risk obstetric care because of dissection risk, especially with aortic root ≥40 mm.", "Sports and occupational restriction (avoid isometric strain and contact collision) based on aortic dimension and surgical status.", "Cascade genetic testing of first-degree relatives once a familial FBN1 variant is known." ], "questions": [ { "id": "evidence-real-world-use-q01", "text": "Which of these real-world use hold for the sense of Marfan syndrome this model covers, and on what evidence?", "kind": "provenance" } ] }, { "id": "evidence-measurements", "name": "Typical measurements", "description": "Reported by the breadth pass; each item needs checking against its source before it becomes normative.", "evidence": [ { "quantity": "Aortic root diameter at the sinuses of Valsalva", "typical_range": "Adult surgical threshold commonly 45-50 mm (often 50 mm; 45 mm with additional risk or family history); Z-score ≥2 used in diagnosis", "unit": "mm (or aortic Z-score, dimensionless)" }, { "quantity": "Systemic Ghent score", "typical_range": "0-20; score ≥7 is a major diagnostic criterion in the revised nosology", "unit": "points" }, { "quantity": "Steinberg (thumb) and Walker-Murdoch (wrist) signs", "typical_range": "Present or absent; both positive contribute to the systemic score", "unit": "binary clinical sign" }, { "quantity": "Arm span-to-height ratio", "typical_range": "Often >1.05 in affected adults when used in the systemic score", "unit": "dimensionless ratio" }, { "quantity": "Lens status (ectopia lentis)", "typical_range": "Present/absent; laterality and direction of subluxation recorded", "unit": "clinical/ophthalmic finding" }, { "quantity": "FBN1 variant classification", "typical_range": "Pathogenic / likely pathogenic / VUS / benign per ACMG/AMP", "unit": "ACMG class" } ], "questions": [ { "id": "evidence-measurements-q01", "text": "Which of these typical measurements hold for the sense of Marfan syndrome this model covers, and on what evidence?", "kind": "provenance" } ] }, { "id": "evidence-failure-modes-and-hazards", "name": "Failure modes and hazards", "description": "Reported by the breadth pass; each item needs checking against its source before it becomes normative.", "evidence": [ "Type A aortic dissection or rupture from progressive aortic-root aneurysm - the leading cause of premature death.", "Acute aortic regurgitation and heart failure from annular or root dilation.", "Mitral-valve prolapse with regurgitation, arrhythmia, or rarely endocarditis.", "Ectopia lentis, high myopia, glaucoma, and retinal detachment.", "Dural ectasia causing low-back pain, headache, or nerve-root compression.", "Pneumothorax from apical blebs.", "Peripartum aortic dissection.", "Overdiagnosis when a marfanoid body habitus is treated as Marfan syndrome without Ghent features or FBN1 evidence, leading to unnecessary aortic surgery or activity restriction; underdiagnosis when isolated aortopathy is missed." ], "questions": [ { "id": "evidence-failure-modes-and-hazards-q01", "text": "Which of these failure modes and hazards hold for the sense of Marfan syndrome this model covers, and on what evidence?", "kind": "provenance" } ] }, { "id": "evidence-regional-variation", "name": "Regional variation", "description": "Reported by the breadth pass; each item needs checking against its source before it becomes normative.", "evidence": [ "Europe more often cites ESC aortic thresholds and Orphanet/ORPHA:558; the United States more often cites ACC/AHA 2022 aortic guidelines, ICD-10-CM Q87.4, and GeneReviews.", "Elective aortic-root replacement is commonly discussed at 50 mm in many centres, and at 45 mm when additional risk factors, rapid growth, or a family history of dissection are present; Japanese and some Asian series report dissection at smaller absolute diameters, so indexed diameters and earlier surgery are sometimes used.", "The eponym remains 'Marfan syndrome' in English, French (syndrome de Marfan), and German (Marfan-Syndrom); older literature used 'dolichostenomelia' and 'arachnodactyly'.", "Neonatal Marfan syndrome is coded and counselled as a severe infantile presentation rather than a separate MIM number in most services." ], "questions": [ { "id": "evidence-regional-variation-q01", "text": "Which of these regional variation hold for the sense of Marfan syndrome this model covers, and on what evidence?", "kind": "provenance" } ] }, { "id": "evidence-neighbours", "name": "Neighbouring kinds and how to tell them apart", "description": "Reported by the breadth pass; each item needs checking against its source before it becomes normative.", "evidence": [ { "name": "Loeys-Dietz syndrome (TGFBR1/2, SMAD3, TGFB2/3)", "difference": "Widespread arterial tortuosity, hypertelorism, bifid uvula or cleft palate, and TGF-β-pathway genes rather than FBN1; aortic events at smaller diameters." }, { "name": "Vascular Ehlers-Danlos syndrome (COL3A1)", "difference": "Thin translucent skin, easy bruising, hollow-organ and medium-artery rupture without the Ghent skeletal-ocular pattern; COL3A1, not FBN1." }, { "name": "Congenital contractural arachnodactyly (Beals syndrome, FBN2)", "difference": "Crumpled ears and congenital contractures; aortopathy uncommon; FBN2 rather than FBN1." }, { "name": "Homocystinuria (CBS)", "difference": "Autosomal recessive, thromboembolism, downward lens dislocation, intellectual disability, and raised plasma homocysteine/methionine; FBN1 negative." }, { "name": "MASS phenotype (FBN1-related)", "difference": "Mitral prolapse, myopia, borderline aortic enlargement, and skin/skeletal findings without aortic aneurysm reaching Ghent aortic criteria or ectopia lentis." }, { "name": "Familial thoracic aortic aneurysm and dissection (ACTA2, MYH11, MYLK, PRKG1, etc.)", "difference": "Isolated or predominant aortopathy without ectopia lentis or a high systemic score; non-FBN1 aortopathy genes." }, { "name": "Shprintzen-Goldberg syndrome (SKI)", "difference": "Craniosynostosis and intellectual disability with marfanoid habitus; SKI, not FBN1." }, { "name": "Klinefelter syndrome (47,XXY)", "difference": "Tall habitus with hypogonadism and small testes; karyotype 47,XXY, no FBN1 aortopathy pattern." } ], "questions": [ { "id": "evidence-neighbours-q01", "text": "Which of these neighbouring kinds and how to tell them apart hold for the sense of Marfan syndrome this model covers, and on what evidence?", "kind": "provenance" } ] } ] } ] } ] }, "openQuestions": [ "Which diagnostic criteria version and specialist interpretation rules should govern incomplete or conflicting childhood presentations?", "Which aortic measurement conventions and Z-score reference equations should be accepted, and how should incompatible series be represented?", "Which current jurisdiction-specific guidance should supply surveillance intervals, activity recommendations, and intervention-review triggers?", "How should evolving FBN1 classifications update diagnostic confidence while preserving previous interpretations and their dates?", "Which measures of pain, fatigue, visual function, mobility, and participation best capture burden without assuming that every symptom is caused by Marfan syndrome?" ], "statistics": { "bundles": 6, "layers": 11, "findings": 18, "questions": 28 } }, "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 Marfan syndrome, record what state it is in, and decide what may be done with it.", "whatItIs": "Enable an AI agent to organize evidence for recognizing Marfan syndrome, assess its manifestations over time, and identify appropriate clinician-reviewed surveillance, referral, and management decisions.", "characteristics": { "substance": "information", "origin": "conceptual", "agency": "inert" }, "whatYouCanDoWithIt": [ "read and interpreted", "observed and measured" ], "distinguishingFeatures": [ "Names folded into this entry, which a task may need to split apart again: MASS syndrome.", "1 finer distinctions are held as aliases rather than separate entries, because telling them apart needs a task that asks for it.", "Described in 60 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 Marfan syndrome, 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", "observe it, measure it, record its state" ], "howItIsRecognised": [ "Recognised by criteria applied to signs and findings, not by appearance. Two conditions can look identical and be distinguished only by test." ], "relatedModels": [ { "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": [ "MASS syndrome" ] } ], "standing": "Described in 60 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 Marfan syndrome from another, and a Marfan syndrome 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 Marfan syndrome, 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 Marfan syndrome, 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 Marfan syndrome 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 Marfan syndrome, 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 Marfan syndrome, 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 Marfan syndrome 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 Marfan syndrome 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 Marfan syndrome, 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 Marfan syndrome, 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 Marfan syndrome 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 Marfan syndrome from the things most often confused with it.", "questions": [ { "id": "distinguishing-features-q01", "text": "What identifies and describes what distinguishes a Marfan syndrome, 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 Marfan syndrome, 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 Marfan syndrome 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 Marfan syndrome 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 Marfan syndrome between them.", "questions": [ { "id": "stages-and-transitions-q01", "text": "What identifies and describes the lifecycle of a Marfan syndrome, 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 Marfan syndrome, 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 Marfan syndrome 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 Marfan syndrome, how often and by whom.", "findings": [ { "id": "observation-record", "name": "Observation record", "description": "How an observation of a Marfan syndrome 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 Marfan syndrome, 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 Marfan syndrome, 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 Marfan syndrome 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 Marfan syndrome 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 Marfan syndrome contains and in what form it is held.", "questions": [ { "id": "content-and-format-q01", "text": "What identifies and describes the content of a Marfan syndrome, 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 Marfan syndrome, 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 Marfan syndrome 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 Marfan syndrome and the period it survives.", "questions": [ { "id": "access-rules-q01", "text": "What identifies and describes access to a Marfan syndrome, 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 Marfan syndrome, 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 Marfan syndrome 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 Marfan syndrome 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 Marfan syndrome, 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 Marfan syndrome, 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 Marfan syndrome 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 Marfan syndrome 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 Marfan syndrome, 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 Marfan syndrome 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 Marfan syndrome and how confident it is.", "questions": [ { "id": "claim-provenance-q01", "text": "What identifies and describes a claim about a Marfan syndrome, 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 Marfan syndrome, 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 Marfan syndrome 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 Marfan syndrome is retired without being erased.", "questions": [ { "id": "validity-and-supersession-q01", "text": "What identifies and describes the validity of a claim about a Marfan syndrome, 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 Marfan syndrome, 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 Marfan syndrome 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 } } } }