{ "vercy": "1.0-draft", "publication": { "status": "research-draft", "adjudicationStatus": "unreviewed", "publishableCanonical": false, "generatedAt": "2026-09-12T08:23:47Z", "providers": [ "Codex" ], "breadth": "recalled by Codex without web access - no source was read", "missingProviders": [], "pass": 2, "cost": { "grok": { "seconds": 20.9, "error": "Reading additional input from stdin...\nOpenAI Codex v0.153.4\n--------\nworkdir: R:\\02_PROJECTS\\02_Meta_Models_Platforms\\Ver.cy\\current\\thing-registry-backlog\nmodel: gpt-6-astra\nprovider: openai\napproval: never\nsandbox: read-only\nreasoning effort: none\nreasoning summaries: none\nsession id: 01a094b5-fd26-7103-a817-73862ec492c9\n--------\nuser\nDescribe what is already known about one registered thing. Answer as JSON only, no prose around it.\n\nThing: Carpenter syndrome\nSense to describe: (none recorded)\nDomain code: XCT.STA\nAlso known as: (none)\n\n\nContext for this batch of 1001 things:\n# Batch 043: 1", "usd": 0.0, "recall": true }, "codex": { "seconds": 78.0, "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: 01a094b5-fd16-7710-8fb7-a90ac3527661\n--------\nuser\nYou are drafting a Vercy meta-model for one registered thing. Answer as JSON only, no prose around it.\n\nThing: Carpenter syndrome\nRegistry id: vr.tr.carpenter-syndrome\nPlane / domain: XCT / XCT.STA\nRegistry definition: (none recorded)\nNames folded into this en" } }, "enrichment": { "pass": 3, "engine": "claude", "producedAt": "2026-10-06T12:00:00Z", "ingestedAt": "2026-10-06T08:43:09+00:00", "fields": [ "agent_conduct", "ethics", "failure_modes_and_hazards", "owners", "standards_and_regulation", "visual_identification" ] }, "gate": { "passed": true, "version": "1.0", "at": "2026-10-07T10:10:28+00:00", "evidence": [ "completeness 1.00", "sense: Wikidata description", "2 live sources", "review by codex: pass" ] } }, "metaModel": { "id": "THING-Q2272470", "registryId": "vr.tr.carpenter-syndrome", "name": "Carpenter syndrome", "version": "0.1.0-research.1", "entryKind": "thing", "family": "Thing Registry", "domain": [ "XCT.STA" ], "status": "research-draft" }, "canonicalUrl": "https://ver.cy/models/thing/q2272470/", "model": { "registry_id": "vr.tr.carpenter-syndrome", "name": "Carpenter syndrome", "purpose": "Enable an agent to recognize Carpenter syndrome, assess the evidence and manifestations attributed to it, and identify appropriate specialist assessment and support.", "definition": "Carpenter syndrome is a rare autosomal recessive developmental disorder caused by biallelic pathogenic variants in RAB23 or MEGF8, typically characterized by craniosynostosis, polysyndactyly and variable additional congenital anomalies.", "scope_statement": "This model owns the condition-level identity, diagnostic evidence, phenotypic variability and care-relevant assessment requirements of Carpenter syndrome within registry entry vr.tr.carpenter-syndrome, plane XCT and domain XCT.STA.", "in_scope": [ "Carpenter syndrome identity and boundaries within syndromic craniosynostosis", "RAB23-related and MEGF8-related forms within one condition model", "Cranial, digital and associated developmental manifestations", "Diagnostic certainty, molecular evidence and unresolved differential diagnoses", "Longitudinal manifestations, complications and specialist assessment needs" ], "out_of_scope": [ "The patient's complete identity, history and unrelated conditions", "Individual appointments, admissions and episodes of care", "General variant interpretation rules and laboratory assay specifications", "Surgical techniques and procedure-specific consent", "Independent models of other craniosynostosis syndromes", "Family members' individual diagnoses and reproductive decisions" ], "distinguishing_features": [ "Evaluate the combination of craniosynostosis and polysyndactyly; either feature alone is insufficient to identify Carpenter syndrome. [MedlinePlus Genetics](https://medlineplus.gov/genetics/condition/carpenter-syndrome/)", "Assess whether clinically interpreted biallelic variants in RAB23 or MEGF8 support the diagnosis and its autosomal recessive basis. [2024 phenotype study](https://pubmed.ncbi.nlm.nih.gov/38760421/)", "Explicitly distinguish overlapping GLI3-related Greig cephalopolysyndactyly using molecular and clinical evidence rather than appearance alone. [Primary MEGF8 study](https://pmc.ncbi.nlm.nih.gov/articles/PMC3487118/)", "Use abnormal organ laterality as evidence relevant to MEGF8-related disease, without making it mandatory or sufficient for subtype assignment. [Primary MEGF8 study](https://pmc.ncbi.nlm.nih.gov/articles/PMC3487118/)" ], "characteristics": [ { "name": "Diagnostic assertion", "kind": "state", "unit_or_values": "Suspected, clinically diagnosed, molecularly confirmed, unresolved or revised; assessor and date required", "why_it_matters": "Separates the condition from a particular clinician's evolving diagnosis." }, { "name": "Molecular attribution", "kind": "category", "unit_or_values": "RAB23-related, MEGF8-related or unresolved", "why_it_matters": "Records the supported form without splitting the registry entry." }, { "name": "Variant evidence", "kind": "relation", "unit_or_values": "Laboratory report, gene, transcript, HGVS description, zygosity, phase, classification and interpretation date", "why_it_matters": "Makes molecular confirmation auditable and distinguishes uncertain findings from diagnostic evidence." }, { "name": "Cranial suture involvement", "kind": "category", "unit_or_values": "Named sutures, laterality, assessment method, date and present, absent or unassessed status", "why_it_matters": "Describes the cranial phenotype more precisely than head shape alone." }, { "name": "Digital pattern", "kind": "category", "unit_or_values": "Digit count, affected hand or foot, side, duplication axis and soft-tissue or bony fusion", "why_it_matters": "Supports recognition and distinguishes anatomical findings from functional effects." }, { "name": "Organ arrangement", "kind": "category", "unit_or_values": "Documented arrangement of assessed organs, method and date; unknown when unassessed", "why_it_matters": "Preserves laterality evidence without assuming one organ determines all others." }, { "name": "Growth and development trajectory", "kind": "measurement", "unit_or_values": "Age-linked height in cm, weight in kg, reference-specific growth scores and named developmental assessment results", "why_it_matters": "Supports longitudinal assessment without treating one observation as a fixed prognosis." }, { "name": "Condition terminology mapping", "kind": "relation", "unit_or_values": "Verified terminology identifier, system, release, jurisdiction and exact or broader mapping", "why_it_matters": "Prevents broad coding categories from being mistaken for a specific diagnosis." } ], "affordances": [ "Assemble cranial, digital and molecular evidence for specialist diagnostic review.", "Identify missing assessments while distinguishing unassessed findings from documented absence.", "Compare alternative diagnoses and record why each remains plausible or was rejected.", "Track changes in manifestations, function and diagnostic interpretation over time.", "Flag documented concerns for clinician review using an attributed escalation protocol.", "Prepare an evidence-linked summary for craniofacial, genetics and other relevant care teams." ], "agent_conduct": { "may": [ "Explain Carpenter syndrome in general terms from reputable medical sources.", "Help families find support organisations and reliable information they ask for." ], "must_not": [ "Diagnose the syndrome from a child's photo, head shape or hands.", "Describe affected children in demeaning terms.", "Disclose genetic results or a child's diagnosis without the family's consent.", "Advise on reproductive choices for a specific family." ], "requires_human": [ "Surgical decisions for the skull, hands or heart.", "Genetic testing of relatives or pregnancies." ] }, "ethics": { "considerations": [ "Children with visible differences deserve dignity and protection from staring and stigma.", "Inherited conditions raise family choices that are private." ], "affected_parties": [ "Affected children and adults", "Parents and siblings", "Carrier relatives" ] }, "owners": { "steward": "Nobody owns the condition; families and clinicians answer for care.", "master_systems": [ "Rare disease registries" ] }, "visual_identification": [ "An unusually shaped skull from early fusion of skull bones.", "Extra or joined fingers and toes." ], "failure_modes_and_hazards": [ "Raised pressure inside the skull can harm the brain and eyes if untreated.", "Heart defects and other anomalies may need early care." ], "standards_and_regulation": [ "International Classification of Diseases (ICD-11), World Health Organization." ], "what_it_is_for": [ "Carpenter syndrome is considered in clinical genetics and specialist assessment of people with craniosynostosis, digit differences and associated congenital anomalies.", "The diagnosis provides context for coordinated care, developmental support and genetic counselling for affected people and their families.", "It is also encountered in research on inherited developmental disorders and the interpretation of relevant genetic findings." ] }, "sources": [ { "id": "wikidata", "title": "Wikidata item Q2272470: Carpenter syndrome", "url": "https://www.wikidata.org/wiki/Q2272470", "url_status": "live", "what_it_supports": "identity and sense of the item", "checked_by": "wikidata-api" }, { "id": "wikipedia-en", "title": "Wikipedia: Carpenter syndrome", "url": "https://en.wikipedia.org/wiki/Carpenter_syndrome", "url_status": "live", "what_it_supports": "general description of the item", "checked_by": "wikidata-api sitelink" } ], "structure": { "bundles": [ { "id": "identity-and-diagnostic-boundaries", "name": "Identity and diagnostic boundaries", "description": "Defines what counts as a Carpenter syndrome assertion and how it relates to competing diagnoses and terminology.", "rationale": "A recognizable phenotype, a diagnostic opinion and a classification code provide different kinds of evidence.", "layers": [ { "id": "condition-recognition", "name": "Condition recognition", "description": "Organizes the clinical evidence supporting or challenging recognition.", "findings": [ { "id": "cranial-digital-pattern", "name": "Cranial and digital pattern", "description": "Record the observed combination and its diagnostic interpretation without treating the draft as formal diagnostic criteria.", "questions": [ { "text": "Which cranial and digital findings support Carpenter syndrome, and which are absent or unassessed?", "kind": "definition", "id": "cranial-digital-pattern-q01" }, { "text": "Who made the diagnostic assertion, using which published criteria or clinical framework and version, if any?", "kind": "provenance", "id": "cranial-digital-pattern-q02" }, { "text": "What evidence distinguishes this assertion from Greig cephalopolysyndactyly or another syndromic craniosynostosis?", "kind": "boundary", "id": "cranial-digital-pattern-q03" } ] } ] }, { "id": "registry-and-coding", "name": "Registry and coding", "description": "Preserves one syndrome identity while permitting verified external mappings.", "findings": [ { "id": "terminology-equivalence", "name": "Terminology equivalence", "description": "Keep molecular forms within this entry and qualify the specificity of external codes.", "questions": [ { "text": "Does an existing world-model publication already own Carpenter syndrome and therefore require a registry link instead of another publication?", "kind": "boundary", "id": "terminology-equivalence-q01" }, { "text": "Which ICD-10, ICD-11 or SNOMED CT mappings have been verified, in which release and jurisdiction, and are they exact or broader?", "kind": "provenance", "id": "terminology-equivalence-q02" } ] } ] } ] }, { "id": "molecular-cause-and-inheritance", "name": "Molecular cause and inheritance", "description": "Connects the syndrome assertion to interpretable molecular and familial evidence.", "rationale": "Gene names alone do not establish a diagnosis or justify family-specific conclusions.", "layers": [ { "id": "molecular-confirmation", "name": "Molecular confirmation", "description": "Captures the evidence supporting RAB23-related or MEGF8-related attribution.", "findings": [ { "id": "biallelic-evidence", "name": "Biallelic evidence", "description": "Require traceable laboratory interpretation, including unresolved phase or classification.", "questions": [ { "text": "Which reported variants support the attribution, with what zygosity, phase, classification and interpretation date?", "kind": "provenance", "id": "biallelic-evidence-q01" }, { "text": "If testing is negative or inconclusive, what assay limitations and alternative diagnoses remain relevant?", "kind": "boundary", "id": "biallelic-evidence-q02" } ] } ] }, { "id": "familial-interpretation", "name": "Familial interpretation", "description": "Separates inheritance evidence from assumptions about relatives.", "findings": [ { "id": "segregation-and-counseling", "name": "Segregation and counseling", "description": "Link familial testing and counseling needs without assigning untested relatives a genotype.", "questions": [ { "text": "What parental or familial testing establishes segregation, and which relationships or results remain unverified?", "kind": "provenance", "id": "segregation-and-counseling-q01" }, { "text": "Which unresolved molecular findings require genetics review before family-specific recurrence estimates or testing options are discussed?", "kind": "action", "id": "segregation-and-counseling-q02" } ] } ] } ] }, { "id": "cranial-digital-and-systemic-expression", "name": "Cranial, digital and systemic expression", "description": "Describes the individual's assessed manifestations and functional consequences.", "rationale": "A syndrome label cannot substitute for an anatomical and functional assessment.", "layers": [ { "id": "cranial-and-limb-anatomy", "name": "Cranial and limb anatomy", "description": "Records the distribution and consequences of craniosynostosis and digit differences.", "findings": [ { "id": "anatomy-and-functional-impact", "name": "Anatomy and functional impact", "description": "Distinguish observed anatomy, measured function and interpreted complications.", "questions": [ { "text": "Which sutures and digits are affected, on which sides, and by what examination or imaging evidence?", "kind": "measurement", "id": "anatomy-and-functional-impact-q01" }, { "text": "What assessments document intracranial pressure concerns, visual effects or limitations in hand and foot function?", "kind": "measurement", "id": "anatomy-and-functional-impact-q02" } ] } ] }, { "id": "associated-manifestations", "name": "Associated manifestations", "description": "Organizes organ arrangement, associated anomalies, growth and development assessments.", "findings": [ { "id": "systemic-phenotype-profile", "name": "Systemic phenotype profile", "description": "Record assessed systems individually and preserve uncertainty about syndrome attribution.", "questions": [ { "text": "What evaluations establish cardiac anatomy and organ laterality, and which structures remain unassessed?", "kind": "measurement", "id": "systemic-phenotype-profile-q01" }, { "text": "What growth, developmental and other congenital findings have been documented, using which age-specific assessments?", "kind": "measurement", "id": "systemic-phenotype-profile-q02" }, { "text": "Which associated findings are attributed to Carpenter syndrome, and which may represent a separate condition?", "kind": "boundary", "id": "systemic-phenotype-profile-q03" } ] } ] } ] }, { "id": "trajectory-and-care-decisions", "name": "Trajectory and care decisions", "description": "Connects changing manifestations and evidence gaps to reviewed care actions.", "rationale": "The model must support decisions without inventing universal stages, surveillance schedules or treatment indications.", "layers": [ { "id": "longitudinal-state", "name": "Longitudinal state", "description": "Tracks manifestations and outcomes across development and interventions.", "findings": [ { "id": "manifestation-specific-course", "name": "Manifestation-specific course", "description": "Represent course through dated observations rather than an unsupported syndrome-wide stage.", "questions": [ { "text": "Which cranial, functional, growth or developmental observations have changed, and over what interval?", "kind": "measurement", "id": "manifestation-specific-course-q01" }, { "text": "Which changes followed an intervention, and what evidence supports attributing improvement or deterioration to it?", "kind": "provenance", "id": "manifestation-specific-course-q02" } ] } ] }, { "id": "review-and-escalation", "name": "Review and escalation", "description": "Links documented concerns to appropriate specialist ownership and attributed protocols.", "findings": [ { "id": "assessment-and-action-plan", "name": "Assessment and action plan", "description": "Record the clinical rationale, responsible team and review trigger for each proposed action.", "questions": [ { "text": "Which findings require craniofacial, genetics, cardiac, developmental or other specialist review, and who owns each referral?", "kind": "action", "id": "assessment-and-action-plan-q01" }, { "text": "Which documented concerns require urgent escalation under the treating team's protocol, and what is that protocol's source and version?", "kind": "action", "id": "assessment-and-action-plan-q02" }, { "text": "Which proposed assessments or interventions remain undecided because evidence, clinical evaluation or patient preferences are missing?", "kind": "action", "id": "assessment-and-action-plan-q03" } ] } ] } ] }, { "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.", "Verify OMIM subtype identifiers and current ICD or SNOMED CT mappings before registry publication.", "Phenotypic severity varies; laterality abnormalities are particularly associated with MEGF8-related disease, and reliable population prevalence estimates require research." ], "questions": [ { "id": "evidence-confidence-notes-q01", "text": "Which of these check these first hold for the sense of Carpenter syndrome 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": [ "RAB23-related Carpenter syndrome (type 1)", "MEGF8-related Carpenter syndrome (type 2)" ], "questions": [ { "id": "evidence-kinds-q01", "text": "Which of these kinds and varieties hold for the sense of Carpenter syndrome 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": "201000", "note": "Carpenter syndrome type 1." }, { "scheme": "OMIM", "value_or_pattern": "614976", "note": "Carpenter syndrome type 2." } ], "questions": [ { "id": "evidence-identifiers-q01", "text": "Which of these identifiers and schemes hold for the sense of Carpenter syndrome 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": [ "Recognition of a syndromic cause of craniosynostosis accompanied by extra or fused digits.", "Molecular diagnosis through testing of RAB23 and MEGF8.", "Coordination of craniofacial, developmental, cardiac and other specialist assessments.", "Genetic counseling and family testing after identification of the causative variants." ], "questions": [ { "id": "evidence-real-world-use-q01", "text": "Which of these real-world use hold for the sense of Carpenter syndrome 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": [ "Craniosynostosis can cause raised intracranial pressure and threaten vision.", "Congenital heart defects and other internal anomalies may require treatment.", "Developmental delay or intellectual disability can occur, with variable severity.", "Obesity can develop during childhood.", "Clinical overlap with other craniosynostosis syndromes can lead to misclassification without molecular testing." ], "questions": [ { "id": "evidence-failure-modes-and-hazards-q01", "text": "Which of these failure modes and hazards hold for the sense of Carpenter syndrome 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": "Apert syndrome", "difference": "Usually caused by a heterozygous FGFR2 pathogenic variant and characterized by complex syndactyly; Carpenter syndrome is recessive and commonly includes polydactyly." }, { "name": "Pfeiffer syndrome", "difference": "Typically involves broad, deviated thumbs and great toes and FGFR-related dominant inheritance, rather than the recessive RAB23- or MEGF8-related polysyndactyly of Carpenter syndrome." }, { "name": "Greig cephalopolysyndactyly syndrome", "difference": "A GLI3-related disorder featuring macrocephaly and polysyndactyly; craniosynostosis is not its defining skull abnormality." } ], "questions": [ { "id": "evidence-neighbours-q01", "text": "Which of these neighbouring kinds and how to tell them apart hold for the sense of Carpenter syndrome this model covers, and on what evidence?", "kind": "provenance" } ] } ] } ] } ] }, "openQuestions": [ "Is there a validated, currently endorsed diagnostic criteria set for Carpenter syndrome, and how does it handle molecularly unresolved or atypical presentations?", "What exact or broader ICD-10, ICD-11 and SNOMED CT mappings apply in the intended jurisdiction and releases?", "What population-based prevalence estimates exist with ascertainment method, geography and year, rather than counts of published cases?", "Which genotype-phenotype associations and long-term outcome estimates are sufficiently supported to guide assessment without overgeneralizing from small cohorts?", "Which Carpenter-specific surveillance and intervention recommendations have an identifiable issuing body, evidence basis and current version?" ], "statistics": { "bundles": 5, "layers": 9, "findings": 14, "questions": 25 } }