{ "vercy": "1.0-draft", "publication": { "status": "research-draft", "adjudicationStatus": "unreviewed", "publishableCanonical": false, "generatedAt": "2026-09-12T11:26:50Z", "providers": [ "Codex" ], "breadth": "recalled by Codex without web access - no source was read", "missingProviders": [], "pass": 2, "cost": { "grok": { "seconds": 20.6, "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: 01a0955d-9324-7f22-a0e8-3289c9d2f365\n--------\nuser\nDescribe what is already known about one registered thing. Answer as JSON only, no prose around it.\n\nThing: multiple epiphyseal dysplasia\nSense to describe: (none recorded)\nDomain code: XCT.STA\nAlso known as: (none)\n\n\nContext for this batch of 1001 things:\n# B", "usd": 0.0, "recall": true }, "codex": { "seconds": 78.2, "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: 01a0955d-9323-73d1-a5ae-647c389ce1ae\n--------\nuser\nYou are drafting a Vercy meta-model for one registered thing. Answer as JSON only, no prose around it.\n\nThing: multiple epiphyseal dysplasia\nRegistry id: vr.tr.multiple-epiphyseal-dysplasia\nPlane / domain: XCT / XCT.STA\nRegistry definition: (none recorded)\nNam" } }, "enrichment": { "pass": 3, "engine": "claude", "producedAt": "2026-10-06T12:00:00Z", "ingestedAt": "2026-10-06T08:11:55+00:00", "fields": [ "agent_conduct", "ethics", "failure_modes_and_hazards", "owners", "visual_identification" ] }, "gate": { "passed": true, "version": "1.0", "at": "2026-10-07T10:10:26+00:00", "evidence": [ "completeness 1.00", "sense: Wikidata description", "2 live sources", "review by codex: pass" ] } }, "metaModel": { "id": "THING-Q1452604", "registryId": "vr.tr.multiple-epiphyseal-dysplasia", "name": "multiple epiphyseal dysplasia", "version": "0.1.0-research.1", "entryKind": "thing", "family": "Thing Registry", "domain": [ "XCT.STA" ], "status": "research-draft" }, "canonicalUrl": "https://ver.cy/models/thing/q1452604/", "model": { "registry_id": "vr.tr.multiple-epiphyseal-dysplasia", "name": "multiple epiphyseal dysplasia", "purpose": "Enable an AI agent to recognise evidence for multiple epiphyseal dysplasia, track its skeletal and functional consequences, and support specialist assessment and care planning while preserving diagnostic uncertainty.", "definition": "Multiple epiphyseal dysplasia is a genetically heterogeneous group of inherited skeletal disorders characterized by abnormal development of the epiphyses of long bones, often causing childhood joint pain, mild short stature and premature osteoarthritis.", "scope_statement": "This model owns the condition-level identity and assessment requirements for vr.tr.multiple-epiphyseal-dysplasia within XCT/XCT.STA, including clinically recognised and molecularly characterised forms, without splitting genetic subtypes into separate registry entries.", "in_scope": [ "Evidence for a developmental disorder affecting multiple epiphyses", "Clinical diagnostic status, molecular subtype and unresolved attribution", "Age-specific skeletal distribution, growth and joint function", "Longitudinal pain, deformity and secondary joint degeneration", "Condition-specific care decisions and inheritance interpretation" ], "out_of_scope": [ "General skeletal anatomy and normal ossification reference models", "Independent models of pseudoachondroplasia, Perthes disease and other skeletal dysplasias", "Primary osteoarthritis and inflammatory arthritis unrelated to this condition", "Laboratory sequencing procedures and general variant-classification standards", "Detailed surgical techniques, medication prescribing and rehabilitation protocols" ], "distinguishing_features": [ "Assess whether developmental epiphyseal abnormalities involve multiple joints rather than an isolated femoral-head process; mild MED can be mistaken for bilateral Perthes disease. [GeneReviews: dominant MED](https://www.ncbi.nlm.nih.gov/books/NBK1123/)", "Interpret childhood joint pain alongside growth and imaging: normal or only mildly reduced stature does not exclude MED. [GeneReviews: dominant MED](https://www.ncbi.nlm.nih.gov/books/NBK1123/)", "Distinguish MED from COMP-related pseudoachondroplasia using the complete skeletal phenotype; a shared gene does not establish the same disorder. [GeneReviews: SLC26A2-related MED](https://www.ncbi.nlm.nih.gov/books/NBK1306/)", "A double-layered patella supports SLC26A2-related MED but is neither universally present nor reliably retained into adulthood. [GeneReviews: SLC26A2-related MED](https://www.ncbi.nlm.nih.gov/books/NBK1306/)", "Separate molecular confirmation from uncertain variants: biallelic SLC26A2 variants of uncertain significance do not establish or exclude SLC26A2-related MED. [GeneReviews: SLC26A2-related MED](https://www.ncbi.nlm.nih.gov/books/NBK1306/)" ], "characteristics": [ { "name": "Diagnostic standing", "kind": "state", "unit_or_values": "suspected; specialist clinical diagnosis; molecularly supported diagnosis; disputed; revised", "why_it_matters": "Prevents a referral label or ambiguous test result from becoming an established diagnosis." }, { "name": "Molecular subtype", "kind": "category", "unit_or_values": "COMP; MATN3; COL9A1; COL9A2; COL9A3; SLC26A2; other source-supported subtype; unresolved", "why_it_matters": "Connects the phenotype to subtype evidence without forcing every case into a known gene category." }, { "name": "Variant evidence", "kind": "relation", "unit_or_values": "laboratory report, gene, transcript, variant, zygosity, phase, classification and interpretation date", "why_it_matters": "Makes molecular attribution traceable and revisable." }, { "name": "Epiphyseal distribution", "kind": "category", "unit_or_values": "anatomical site and side; observed morphology; present, absent, uncertain or not assessed", "why_it_matters": "Separates multisite developmental involvement from a local joint disorder." }, { "name": "Observation age", "kind": "measurement", "unit_or_values": "years and months at symptom onset, imaging and assessment", "why_it_matters": "Allows findings to be interpreted in their developmental context." }, { "name": "Growth and body proportions", "kind": "measurement", "unit_or_values": "height in cm; reference-specific height z-score; sitting-height-to-height ratio", "why_it_matters": "Documents growth without making short stature a mandatory recognition criterion." }, { "name": "Joint pain burden", "kind": "measurement", "unit_or_values": "named age-appropriate scale with range, joint, recall period and activity context", "why_it_matters": "Allows comparable follow-up and identifies which joints limit activity." }, { "name": "Joint movement and alignment", "kind": "measurement", "unit_or_values": "range of motion and alignment in degrees, with joint, side and measurement method", "why_it_matters": "Tracks restriction and deformity relevant to orthopaedic review." }, { "name": "Secondary degeneration", "kind": "state", "unit_or_values": "not assessed; absent; suspected; confirmed, with joint and assessment date", "why_it_matters": "Keeps acquired joint damage distinct from the underlying developmental abnormality." }, { "name": "Everyday mobility", "kind": "measurement", "unit_or_values": "walking distance in metres or duration in minutes, assistance used and limiting symptoms", "why_it_matters": "Connects skeletal findings to the person's practical needs." }, { "name": "Inheritance interpretation", "kind": "category", "unit_or_values": "autosomal dominant; autosomal recessive; unresolved, with supporting evidence", "why_it_matters": "Prevents recurrence-risk assumptions based solely on the umbrella diagnosis." } ], "affordances": [ "Assemble an age-indexed phenotype and imaging summary for skeletal-dysplasia assessment.", "Identify missing evidence needed to distinguish MED from competing diagnoses.", "Link molecular reports to phenotype while flagging uncertain or discordant interpretations.", "Compare joint-specific pain, movement and mobility across visits.", "Prepare a specialist review brief when function or deformity changes.", "Support genetic-counselling preparation using documented subtype and family relationships." ], "agent_conduct": { "may": [ "Explain multiple epiphyseal dysplasia and its management from medical and genetic sources.", "Help affected people and families find specialist and support services." ], "must_not": [ "Diagnose the condition or interpret a genetic test result for a person instead of a clinician.", "Disclose a person's diagnosis or genetic status without consent.", "Advise relatives about their own genetic risk without referring them to genetic counselling.", "Describe people with the condition in stigmatising or pitying terms." ], "requires_human": [ "Decisions about genetic testing, family planning or surgery." ] }, "ethics": { "considerations": [ "Genetic information affects relatives who did not choose to be tested.", "People with short stature or joint disability face discrimination and deserve respect." ], "affected_parties": [ "Affected people", "Families and relatives" ] }, "owners": { "steward": "Each person's health information is their own; clinicians and geneticists answer for diagnosis and care.", "master_systems": [ "Rare disease and genetic registries" ] }, "visual_identification": [ "Not settled by sight: diagnosis relies on imaging and genetic testing.", "May show as joint pain, waddling gait or mild short stature in childhood." ], "failure_modes_and_hazards": [ "Early osteoarthritis of hips and knees.", "Misdiagnosis as other childhood joint conditions." ], "what_it_is_for": [ "Multiple epiphyseal dysplasia is encountered in clinical genetics, paediatric orthopaedics and assessments of persistent joint pain or atypical skeletal development.", "The diagnosis informs evaluation of inherited skeletal differences, functional limitations and the risk of premature joint degeneration.", "Clinical records may track imaging findings, molecular results and family history while distinguishing it from other causes of epiphyseal abnormalities." ], "standards_and_regulation": [ "ICD-10, issued by the World Health Organization, classifies multiple epiphyseal dysplasia under Q77.3, Chondrodysplasia punctata." ] }, "sources": [ { "id": "wikidata", "title": "Wikidata item Q1452604: multiple epiphyseal dysplasia", "url": "https://www.wikidata.org/wiki/Q1452604", "url_status": "live", "what_it_supports": "identity and sense of the item", "checked_by": "wikidata-api" }, { "id": "wikipedia-en", "title": "Wikipedia: Multiple epiphyseal dysplasia", "url": "https://en.wikipedia.org/wiki/Multiple_epiphyseal_dysplasia", "url_status": "live", "what_it_supports": "general description of the item", "checked_by": "wikidata-api sitelink" } ], "structure": { "bundles": [ { "id": "diagnostic-identity-and-boundaries", "name": "Diagnostic identity and boundaries", "description": "Establish what the MED label means in this record and which competing explanations remain.", "rationale": "The registry names an umbrella condition, so recognition must preserve both subtype diversity and unresolved cases.", "layers": [ { "id": "condition-attribution", "name": "Condition attribution", "description": "Separate the registered condition from an individual's level of diagnostic support.", "findings": [ { "id": "basis-of-med-attribution", "name": "Basis of MED attribution", "description": "Record the clinical interpretation, its author and the observations supporting the MED label.", "questions": [ { "text": "What combination of developmental epiphyseal findings and clinical history led to the MED attribution?", "kind": "definition", "id": "basis-of-med-attribution-q01" }, { "text": "Who made the attribution, when, and from which examination, images and reports?", "kind": "provenance", "id": "basis-of-med-attribution-q02" } ] } ] }, { "id": "competing-skeletal-diagnoses", "name": "Competing skeletal diagnoses", "description": "Make the differential diagnosis and its unresolved discriminators explicit.", "findings": [ { "id": "alternative-explanation-review", "name": "Alternative explanation review", "description": "Maintain reasons for retaining or rejecting Perthes disease, pseudoachondroplasia and other plausible explanations.", "questions": [ { "text": "Which findings distinguish this presentation from bilateral Perthes disease or pseudoachondroplasia?", "kind": "boundary", "id": "alternative-explanation-review-q01" }, { "text": "What additional assessment would resolve the most consequential remaining alternative?", "kind": "action", "id": "alternative-explanation-review-q02" } ] } ] } ] }, { "id": "epiphyseal-pattern-and-development", "name": "Epiphyseal pattern and development", "description": "Represent the anatomical pattern in relation to age and available imaging.", "rationale": "The model must establish what 'multiple epiphyseal' means in the observed skeleton rather than infer it from joint pain.", "layers": [ { "id": "joint-by-joint-imaging", "name": "Joint-by-joint imaging", "description": "Record actual epiphyseal observations separately from the extent of examination.", "findings": [ { "id": "distribution-and-morphology", "name": "Distribution and morphology", "description": "Describe affected epiphyses, laterality and morphology with links to dated imaging interpretations.", "questions": [ { "text": "Which epiphyses show delayed, small, irregular or flattened ossification, and at what age?", "kind": "measurement", "id": "distribution-and-morphology-q01" }, { "text": "Which apparently unaffected joints were actually imaged, and which remain unassessed?", "kind": "boundary", "id": "distribution-and-morphology-q02" } ] } ] }, { "id": "growth-and-associated-skeletal-signs", "name": "Growth and associated skeletal signs", "description": "Place stature, proportions and associated findings alongside the epiphyseal pattern.", "findings": [ { "id": "developmental-context", "name": "Developmental context", "description": "Retain longitudinal growth measurements and observations of patellae, hands, feet and spine.", "questions": [ { "text": "How have height and body proportions changed against the stated growth reference?", "kind": "measurement", "id": "developmental-context-q01" }, { "text": "Were patellar layering, hand or foot deformities and spinal abnormalities assessed, and how does age affect their interpretation?", "kind": "boundary", "id": "developmental-context-q02" } ] } ] } ] }, { "id": "molecular-subtype-and-inheritance", "name": "Molecular subtype and inheritance", "description": "Connect subtype claims to molecular evidence and family interpretation.", "rationale": "Dominant and recessive forms require different interpretation; the umbrella name alone cannot determine inheritance.", "layers": [ { "id": "genotype-phenotype-attribution", "name": "Genotype-phenotype attribution", "description": "Assess whether reported variants support this skeletal phenotype and subtype.", "findings": [ { "id": "subtype-evidence", "name": "Subtype evidence", "description": "Dominant MED involves COMP, MATN3 or type IX collagen genes; preserve the exact supporting report. [GeneReviews: dominant MED](https://www.ncbi.nlm.nih.gov/books/NBK1123/)", "questions": [ { "text": "What gene, variants, zygosity, phase and dated classifications support the proposed subtype?", "kind": "provenance", "id": "subtype-evidence-q01" }, { "text": "Does the phenotype support MED rather than another disorder associated with the same gene?", "kind": "boundary", "id": "subtype-evidence-q02" } ] } ] }, { "id": "family-evidence-and-risk-context", "name": "Family evidence and risk context", "description": "Separate observed familial disease from inferred inheritance and reproductive risk.", "findings": [ { "id": "pedigree-supported-interpretation", "name": "Pedigree-supported interpretation", "description": "Record relatives' phenotypes and testing without assigning affected status from family relationship alone.", "questions": [ { "text": "Which relatives have documented compatible skeletal findings or the relevant familial variants?", "kind": "provenance", "id": "pedigree-supported-interpretation-q01" }, { "text": "What parental or partner information remains necessary for a genetics professional to interpret recurrence risk?", "kind": "action", "id": "pedigree-supported-interpretation-q02" } ] } ] } ] }, { "id": "joint-burden-and-course", "name": "Joint burden and course", "description": "Track symptoms, function and structural change across the person's life.", "rationale": "A diagnostic label does not establish current disability, affected activities or progression.", "layers": [ { "id": "pain-and-functional-performance", "name": "Pain and functional performance", "description": "Capture joint-specific symptoms and their effect on daily movement.", "findings": [ { "id": "activity-linked-joint-burden", "name": "Activity-linked joint burden", "description": "Record pain, fatigue, gait and movement limitations using comparable observations.", "questions": [ { "text": "Which joints limit walking, stairs or other valued activities, and under what load or duration?", "kind": "measurement", "id": "activity-linked-joint-burden-q01" }, { "text": "How do pain scores, movement measurements and the person's reported limitations compare over time?", "kind": "measurement", "id": "activity-linked-joint-burden-q02" } ] } ] }, { "id": "structural-and-functional-progression", "name": "Structural and functional progression", "description": "Distinguish baseline dysplasia from subsequent degeneration or deformity.", "findings": [ { "id": "interval-joint-change", "name": "Interval joint change", "description": "Early degenerative joint disease can complicate MED; progression must be documented rather than presumed. [GeneReviews: dominant MED](https://www.ncbi.nlm.nih.gov/books/NBK1123/)", "questions": [ { "text": "What dated evidence shows new degeneration, worsening alignment or loss of joint movement?", "kind": "measurement", "id": "interval-joint-change-q01" }, { "text": "Does the change fit the established course, or require assessment for an additional joint disorder?", "kind": "boundary", "id": "interval-joint-change-q02" } ] } ] } ] }, { "id": "care-decisions-and-review", "name": "Care decisions and review", "description": "Relate documented joint burden to specialist plans and measurable outcomes.", "rationale": "Useful actions depend on the affected joints, functional goals and developmental stage.", "layers": [ { "id": "mobility-preserving-care", "name": "Mobility-preserving care", "description": "Represent the rationale and response to the agreed symptom and mobility plan.", "findings": [ { "id": "individualised-care-response", "name": "Individualised care response", "description": "Track the treating team's rehabilitation, activity-adaptation and pain-management decisions against the person's goals.", "questions": [ { "text": "What plan addresses the specific painful or restricted joints, and which daily activity should improve?", "kind": "action", "id": "individualised-care-response-q01" }, { "text": "What change in pain, walking tolerance or movement indicates benefit or a need to revise that plan?", "kind": "measurement", "id": "individualised-care-response-q02" } ] } ] }, { "id": "orthopaedic-review-and-intervention", "name": "Orthopaedic review and intervention", "description": "Make escalation decisions traceable to symptoms, anatomy and prior response.", "findings": [ { "id": "intervention-decision-basis", "name": "Intervention decision basis", "description": "Record why specialist review or a proposed procedure is appropriate for the particular joint and stage of development.", "questions": [ { "text": "Which documented pain, deformity or functional change prompted orthopaedic review?", "kind": "action", "id": "intervention-decision-basis-q01" }, { "text": "How do skeletal maturity, joint anatomy, prior treatment response and personal goals inform the proposed intervention?", "kind": "action", "id": "intervention-decision-basis-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 a recall-based description; no sources were consulted.", "The named genetic forms are established, but the list should not be treated as an exhaustive account of current classification.", "Severity, stature and radiographic features vary by genetic cause and age; no single numerical measurement establishes the diagnosis." ], "questions": [ { "id": "evidence-confidence-notes-q01", "text": "Which of these check these first hold for the sense of multiple epiphyseal dysplasia 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": [ "COMP-related multiple epiphyseal dysplasia, usually autosomal dominant", "MATN3-related multiple epiphyseal dysplasia, autosomal dominant", "COL9A1-related multiple epiphyseal dysplasia, autosomal dominant", "COL9A2-related multiple epiphyseal dysplasia, autosomal dominant", "COL9A3-related multiple epiphyseal dysplasia, autosomal dominant", "SLC26A2-related multiple epiphyseal dysplasia, autosomal recessive" ], "questions": [ { "id": "evidence-kinds-q01", "text": "Which of these kinds and varieties hold for the sense of multiple epiphyseal dysplasia 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": "OMIM", "value_or_pattern": "Six-digit phenotype identifiers with separate entries for genetically defined forms", "note": "Distinguish phenotype entries from entries for the associated genes." }, { "scheme": "HGNC", "value_or_pattern": "COMP, MATN3, COL9A1, COL9A2, COL9A3, SLC26A2", "note": "Approved symbols for associated genes; these identify genes rather than the disorder itself." } ], "questions": [ { "id": "evidence-identifiers-q01", "text": "Which of these identifiers and schemes hold for the sense of multiple epiphyseal dysplasia this model covers, and on what evidence?", "kind": "provenance" } ] }, { "id": "evidence-real-world-use", "name": "Real-world use", "description": "Recalled without web access and unsourced; every item is a lead to verify.", "evidence": [ "Diagnostic classification of inherited epiphyseal abnormalities in clinical genetics and skeletal dysplasia services", "Interpretation of skeletal radiographs and molecular genetic testing", "Genetic counselling about inheritance and recurrence risk", "Orthopaedic assessment and management of joint pain, deformity and premature osteoarthritis" ], "questions": [ { "id": "evidence-real-world-use-q01", "text": "Which of these real-world use hold for the sense of multiple epiphyseal dysplasia 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": [ "Premature osteoarthritis can cause chronic pain, stiffness and reduced mobility.", "Lower-limb malalignment and hip abnormalities can impair walking and joint function.", "Mild cases may be overlooked because stature can be near normal.", "Hip abnormalities may be mistaken for Legg-Calvé-Perthes disease.", "Assuming all cases are autosomal dominant can lead to incorrect recurrence-risk counselling." ], "questions": [ { "id": "evidence-failure-modes-and-hazards-q01", "text": "Which of these failure modes and hazards hold for the sense of multiple epiphyseal dysplasia 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": "Pseudoachondroplasia", "difference": "Usually produces more pronounced disproportionate short stature with metaphyseal and vertebral involvement; COMP variants can cause either disorder." }, { "name": "Spondyloepiphyseal dysplasia", "difference": "Prominent vertebral abnormalities accompany epiphyseal dysplasia, whereas spinal involvement is generally limited in multiple epiphyseal dysplasia." }, { "name": "Legg-Calvé-Perthes disease", "difference": "Is osteonecrosis of the developing femoral head rather than a generalized inherited disorder affecting multiple epiphyses." }, { "name": "Diastrophic dysplasia", "difference": "Can also result from biallelic SLC26A2 variants but generally has more severe skeletal abnormalities, including characteristic congenital limb and joint deformities." } ], "questions": [ { "id": "evidence-neighbours-q01", "text": "Which of these neighbouring kinds and how to tell them apart hold for the sense of multiple epiphyseal dysplasia this model covers, and on what evidence?", "kind": "provenance" } ] } ] } ] } ] }, "openQuestions": [ "What operational criteria best support a clinical MED diagnosis when molecular testing remains uninformative?", "How should CANT1-related MED be represented as evidence develops, given the limited clinical delineation reported in the reviewed source? [GeneReviews: SLC26A2-related MED](https://www.ncbi.nlm.nih.gov/books/NBK1306/)", "Which age-specific imaging findings most reliably separate mild MED from bilateral Perthes disease and overlapping skeletal dysplasias?", "Which longitudinal outcome measures and thresholds are validated for meaningful change across MED subtypes?", "What evidence supports subtype-specific surveillance intervals and the timing of joint-preserving surgery?" ], "statistics": { "bundles": 6, "layers": 11, "findings": 16, "questions": 26 } }