{ "model": { "rank": 2677, "code": "thing-q47715", "model_id": "vr.tr.down-syndrome", "name": "Down syndrome", "purpose": "Enable an AI agent to distinguish suspected from confirmed Down syndrome, record an individual's condition-related state and support needs, and identify evidence-supported actions requiring appropriate clinical oversight and consent.", "family": "Thing Registry", "category": "Cross-cutting context", "status": "research-draft", "kind": "thing", "plane": "XCT", "domain": "XCT.STA", "industry": "", "version": "", "url": "/models/thing/q47715/", "tier": 2, "score": 99, "payload": { "layer": "wikidata", "aliases": [], "aliasCount": 0, "merged": 0, "knownIn": 99, "facets": null, "markers": [], "lexicalClass": "", "senseRank": null, "alsoRegisteredAs": null, "source": { "dataset": "wikidata", "item": "Q47715", "url": "https://www.wikidata.org/wiki/Q47715", "license": "CC0 1.0" } }, "research": { "vercy": "1.0-draft", "publication": { "status": "research-draft", "adjudicationStatus": "unreviewed", "publishableCanonical": false, "generatedAt": "2026-09-07T11:02:12Z", "providers": [ "Codex", "Grok" ], "missingProviders": [], "pass": 2, "cost": { "grok": { "usd": 0.0125613, "turns": 1, "seconds": 141.2, "error": null }, "codex": { "seconds": 94.2, "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: 01a07b83-ced1-7dc2-9f24-fefa257420a5\n--------\nuser\nYou are drafting a Vercy meta-model for one registered thing. Answer as JSON only, no prose around it.\n\nThing: Down syndrome\nRegistry id: vr.tr.down-syndrome\nPlane / domain: XCT / XCT.STA\nRegistry definition: (none recorded)\nNames folded into this entry: (none" } } }, "metaModel": { "id": "THING-Q47715", "registryId": "vr.tr.down-syndrome", "name": "Down syndrome", "version": "0.1.0-research.1", "entryKind": "thing", "family": "Thing Registry", "domain": [ "XCT.STA" ], "status": "research-draft" }, "canonicalUrl": "https://ver.cy/models/thing/q47715/", "model": { "registry_id": "vr.tr.down-syndrome", "name": "Down syndrome", "purpose": "Enable an AI agent to distinguish suspected from confirmed Down syndrome, record an individual's condition-related state and support needs, and identify evidence-supported actions requiring appropriate clinical oversight and consent.", "definition": "Down syndrome is a human chromosomal disorder caused by complete or partial trisomy of chromosome 21, producing a consistent but variable pattern of hypotonia, characteristic dysmorphology, developmental delay, and a raised lifetime risk of specific congenital and acquired diseases.", "scope_statement": "This proposed model for vr.tr.down-syndrome owns the condition-specific diagnostic interpretation, observed manifestations, longitudinal changes and care-coordination requirements of Down syndrome; it links to the person, investigations, associated conditions and services without replacing their models.", "in_scope": [ "Diagnostic certainty and evidence for additional chromosome 21 material", "Cytogenetic form, specimen context and unresolved genetic interpretation", "Individual developmental, communication and functional profile", "Down syndrome-specific health surveillance and associated-condition links", "Changes from personal baseline and resulting assessment needs", "Condition-related support priorities, accessible participation and care transitions" ], "out_of_scope": [ "The person's identity, worth, personality or presumed decision-making capacity", "Complete models of associated heart disease, thyroid disease, sleep apnea or other diagnoses", "Laboratory assay design and specimen-processing workflows", "General pregnancy management and reproductive decisions", "Detailed educational curricula, therapy protocols and service administration", "Population surveillance, prevalence estimation and general chromosome biology" ], "distinguishing_features": [ "Check for diagnostic evidence of additional chromosome 21 material; developmental delay or appearance alone does not establish the condition. [CDC: Down Syndrome](https://www.cdc.gov/birth-defects/about/down-syndrome.html)", "Distinguish a prenatal screening result indicating increased probability from a diagnostic result establishing the condition. [CDC: Down Syndrome](https://www.cdc.gov/birth-defects/about/down-syndrome.html)", "Distinguish separate-copy trisomy 21, translocation and mosaic forms through chromosome findings rather than outward similarity. [CDC: Down Syndrome](https://www.cdc.gov/birth-defects/about/down-syndrome.html)", "Check which chromosome has additional material; trisomy involving another chromosome is not evidence of Down syndrome. [CDC: Down Syndrome](https://www.cdc.gov/birth-defects/about/down-syndrome.html)", "Keep recognition of Down syndrome separate from predictions about the individual: prenatal tests cannot establish its full future impact. [CDC: Down Syndrome](https://www.cdc.gov/birth-defects/about/down-syndrome.html)" ], "characteristics": [ { "name": "Diagnostic standing", "kind": "state", "unit_or_values": "Screening indication; clinically suspected; diagnostically confirmed; unresolved discordance; ruled out", "why_it_matters": "Controls whether an agent may describe the condition as established and which clarification remains necessary." }, { "name": "Cytogenetic interpretation", "kind": "category", "unit_or_values": "Separate-copy trisomy 21; translocation; mosaic; other specialist-interpreted finding; unresolved", "why_it_matters": "Preserves the documented genetic explanation without inferring it from appearance." }, { "name": "Diagnostic evidence", "kind": "relation", "unit_or_values": "Linked report, method, specimen, collection date and interpreting clinician", "why_it_matters": "Makes diagnostic claims traceable and supports review of conflicting results." }, { "name": "Reported mosaic cell fraction", "kind": "measurement", "unit_or_values": "Percentage or abnormal-cell count/total examined, with tissue and method; unknown; not applicable", "why_it_matters": "Preserves a laboratory observation without converting it into a whole-person severity score." }, { "name": "Developmental and adaptive baseline", "kind": "measurement", "unit_or_values": "Domain-specific observations or instrument scores, with date, context and accommodations", "why_it_matters": "Supports individual planning and comparison with subsequent observations." }, { "name": "Communication access", "kind": "category", "unit_or_values": "Preferred language and expressive/receptive modes, communication aids and required accommodations", "why_it_matters": "Allows the agent to obtain and represent the person's own concerns and preferences." }, { "name": "Associated-condition assessment status", "kind": "state", "unit_or_values": "Per condition: not assessed; suspected; confirmed; assessed absent; historical; unresolved", "why_it_matters": "Separates syndrome-associated possibilities from diagnoses actually established in this person." }, { "name": "Surveillance position", "kind": "state", "unit_or_values": "Per assessment: due; scheduled; completed; deferred; declined; applicability unresolved", "why_it_matters": "Connects dated guidance to actionable follow-up without treating missing data as normal results." }, { "name": "Change from personal baseline", "kind": "state", "unit_or_values": "Stable; gaining skills; new difficulty; loss of established skills; insufficient comparison", "why_it_matters": "Prevents new problems from being automatically attributed to an existing Down syndrome diagnosis." } ], "affordances": [ "Reconcile screening, clinical and chromosome evidence while retaining unresolved discrepancies.", "Produce an individualized condition summary separating observations, associated diagnoses and unanswered questions.", "Identify surveillance gaps against an explicitly selected, dated and age-applicable guideline.", "Flag documented loss of skills or new symptoms for appropriate clinical assessment.", "Prepare accessible care discussions and support referrals around the person's recorded priorities.", "Coordinate genetics review and care transitions with linked evidence, responsible professionals and outstanding actions." ] }, "sources": [ { "id": "omim-190685", "title": "Down Syndrome, OMIM #190685", "url": "https://omim.org/entry/190685", "what_it_supports": "Genetic identity as trisomy 21, OMIM identifier, critical-region genes, and the main cytogenetic classes.", "url_status": "blocked" }, { "id": "aap-hs-2022", "title": "Health Supervision for Children With Down Syndrome (Clinical Report)", "url": "https://publications.aap.org/pediatrics/article/149/5/e2022057010/186778/Health-Supervision-for-Children-With-Down-Syndrome", "what_it_supports": "Clinical surveillance schedule, typical comorbidities, and measurements used in paediatric practice.", "url_status": "blocked" }, { "id": "who-icd11-ld40-0", "title": "ICD-11 MMS LD40.0 Down syndrome", "url": "https://icd.who.int/", "what_it_supports": "WHO diagnostic code and placement among chromosomal disorders due to extra chromosomes.", "url_status": "live" }, { "id": "cdc-ds-facts", "title": "Facts about Down Syndrome", "url": "", "what_it_supports": "Live-birth occurrence in the United States and public-health framing of the condition.", "url_status": "dead" }, { "id": "wikidata-q47715", "title": "Down syndrome (Q47715)", "url": "https://www.wikidata.org/wiki/Q47715", "what_it_supports": "Cross-walk among Wikidata, ICD, MeSH, Orphanet, OMIM and related identifiers.", "url_status": "live" } ], "structure": { "bundles": [ { "id": "diagnostic-grounding", "name": "Diagnostic grounding", "description": "Record why Down syndrome is suspected or established and what the available chromosome evidence actually supports.", "rationale": "An agent must distinguish a screening indication from a diagnosis before coordinating condition-specific care.", "layers": [ { "id": "recognition-and-certainty", "name": "Recognition and certainty", "description": "Separate the reason for investigation from the evidence establishing the condition.", "findings": [ { "id": "basis-of-diagnosis", "name": "Basis of diagnosis", "description": "Record the diagnostic conclusion, its author and supporting report; preserve suspicion when confirmation is unavailable.", "questions": [ { "text": "Is the current label based on screening, clinical suspicion or a diagnostic investigation?", "kind": "definition", "id": "basis-of-diagnosis-q01" }, { "text": "Which original report and clinician interpretation support the recorded conclusion?", "kind": "provenance", "id": "basis-of-diagnosis-q02" } ] } ] }, { "id": "chromosome-interpretation", "name": "Chromosome interpretation", "description": "Represent the documented form and limits of the genetic evidence.", "findings": [ { "id": "genetic-form-and-limits", "name": "Genetic form and limits", "description": "Preserve the reported chromosome result, sampled tissue and any unresolved mosaicism or rearrangement interpretation.", "questions": [ { "text": "What chromosome result, specimen, method and cell counts were reported?", "kind": "measurement", "id": "genetic-form-and-limits-q01" }, { "text": "Does a genetics professional identify unresolved interpretation or a need for family investigations?", "kind": "action", "id": "genetic-form-and-limits-q02" }, { "text": "What conclusions about other tissues or individual functioning does this report leave unsupported?", "kind": "boundary", "id": "genetic-form-and-limits-q03" } ] } ] } ] }, { "id": "individual-development-and-function", "name": "Individual development and function", "description": "Represent the person's observed abilities and support needs across development.", "rationale": "The registry label cannot substitute for an individual account of communication, learning, movement and daily functioning.", "layers": [ { "id": "developmental-profile", "name": "Developmental profile", "description": "Track abilities separately across relevant domains.", "findings": [ { "id": "documented-abilities", "name": "Documented abilities", "description": "Record strengths, difficulties and developmental progress using dated observations with assessment context.", "questions": [ { "text": "What can the person currently do in communication, learning, mobility and daily living, with and without support?", "kind": "measurement", "id": "documented-abilities-q01" }, { "text": "Who assessed these abilities, using which tools, language and accommodations?", "kind": "provenance", "id": "documented-abilities-q02" } ] } ] }, { "id": "communication-and-participation", "name": "Communication and participation", "description": "Connect the developmental profile to accessible interactions and personally meaningful activities.", "findings": [ { "id": "effective-supports", "name": "Effective supports", "description": "Record which communication, learning and environmental supports help this individual participate.", "questions": [ { "text": "How does the person express preferences, discomfort, agreement and refusal most reliably?", "kind": "measurement", "id": "effective-supports-q01" }, { "text": "Which support changes would advance a goal expressed by the person, and how will benefit be evaluated?", "kind": "action", "id": "effective-supports-q02" } ] } ] } ] }, { "id": "associated-health-and-surveillance", "name": "Associated health and surveillance", "description": "Link individual health findings to Down syndrome-specific review requirements.", "rationale": "Condition-aware monitoring requires both documented results and applicable guidance; a syndrome-associated risk is not an individual diagnosis.", "layers": [ { "id": "associated-condition-evidence", "name": "Associated-condition evidence", "description": "Track assessed and unresolved health concerns without duplicating their clinical models.", "findings": [ { "id": "health-assessment-coverage", "name": "Health assessment coverage", "description": "Record assessment status for relevant concerns, including cardiac disease, hearing impairment and obstructive sleep apnea. These are associated with Down syndrome. [CDC: Down Syndrome](https://www.cdc.gov/birth-defects/about/down-syndrome.html)", "questions": [ { "text": "Which relevant conditions have been assessed, with what dated results and remaining uncertainty?", "kind": "measurement", "id": "health-assessment-coverage-q01" }, { "text": "Which findings require a linked condition model or specialist review rather than attribution to Down syndrome alone?", "kind": "boundary", "id": "health-assessment-coverage-q02" } ] } ] }, { "id": "age-applicable-surveillance", "name": "Age-applicable surveillance", "description": "Attach surveillance decisions to a specific guideline and the person's age and history.", "findings": [ { "id": "surveillance-plan", "name": "Surveillance plan", "description": "Record applicable monitoring, last completion and follow-up ownership. Pediatric guidance addresses thyroid, hearing, vision, sleep and other concerns across age groups. [AAP: Health Supervision](https://publications.aap.org/pediatrics/article/149/5/e2022057010/186778/Health-Supervision-for-Children-and-Adolescents)", "questions": [ { "text": "Which guideline version and age range justify each proposed assessment?", "kind": "provenance", "id": "surveillance-plan-q01" }, { "text": "What is due or unresolved, who will arrange it, and what explains any deferral?", "kind": "action", "id": "surveillance-plan-q02" }, { "text": "Where does pediatric guidance cease to apply, requiring an adult-care source?", "kind": "boundary", "id": "surveillance-plan-q03" } ] } ] } ] }, { "id": "longitudinal-change-and-escalation", "name": "Longitudinal change and escalation", "description": "Distinguish the enduring diagnosis from changes in health, behavior and established abilities.", "rationale": "An agent needs a personal baseline and an explicit review pathway to avoid overlooking new problems.", "layers": [ { "id": "baseline-comparison", "name": "Baseline comparison", "description": "Describe what changed, when and under which circumstances.", "findings": [ { "id": "new-difficulty-or-skill-loss", "name": "New difficulty or skill loss", "description": "Record changes in communication, self-care, movement, sleep or engagement as observations requiring interpretation.", "questions": [ { "text": "Which previously established ability or usual behavior changed, and over what interval?", "kind": "measurement", "id": "new-difficulty-or-skill-loss-q01" }, { "text": "What evidence separates a persistent change from differences in setting, support or observation?", "kind": "provenance", "id": "new-difficulty-or-skill-loss-q02" } ] } ] }, { "id": "assessment-and-response", "name": "Assessment and response", "description": "Connect changes to review without assigning an unsupported explanation.", "findings": [ { "id": "change-review-pathway", "name": "Change review pathway", "description": "Preserve proposed explanations as hypotheses and record clinician-directed evaluation, urgency and follow-up.", "questions": [ { "text": "Which possible explanations have been evaluated, and which remain hypotheses?", "kind": "boundary", "id": "change-review-pathway-q01" }, { "text": "What documented clinical criteria determine the urgency and responsible service for this change?", "kind": "action", "id": "change-review-pathway-q02" }, { "text": "What follow-up observation will show improvement, persistence or further deterioration?", "kind": "measurement", "id": "change-review-pathway-q03" } ] } ] } ] }, { "id": "supported-decisions-and-continuity", "name": "Supported decisions and continuity", "description": "Make condition-related decisions accessible and maintain continuity between genetics, developmental and lifelong health services.", "rationale": "A useful Down syndrome model must connect identified needs to chosen support and accountable follow-up.", "layers": [ { "id": "accessible-condition-decisions", "name": "Accessible condition decisions", "description": "Represent the person's participation in discussions about Down syndrome-related assessment and support.", "findings": [ { "id": "preferences-and-decision-support", "name": "Preferences and decision support", "description": "Record accessible explanations, expressed preferences and decision-specific support rather than deriving decision-making ability from the diagnosis.", "questions": [ { "text": "What does the person understand and want regarding the proposed condition-related assessment or support?", "kind": "measurement", "id": "preferences-and-decision-support-q01" }, { "text": "What communication assistance and documented consent or representative authority apply to this specific decision?", "kind": "action", "id": "preferences-and-decision-support-q02" } ] } ] }, { "id": "genetics-and-care-handover", "name": "Genetics and care handover", "description": "Preserve essential condition knowledge when clinical teams or support settings change.", "findings": [ { "id": "continuity-requirements", "name": "Continuity requirements", "description": "Carry forward the chromosome report, individual baseline, surveillance history, effective accommodations and unresolved genetics questions.", "questions": [ { "text": "Which Down syndrome-specific evidence and outstanding assessments must the receiving team acknowledge?", "kind": "action", "id": "continuity-requirements-q01" }, { "text": "Who owns unresolved genetic counseling, surveillance and support actions after the transition?", "kind": "action", "id": "continuity-requirements-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": [ "Free (complete) trisomy 21 from meiotic nondisjunction, about 95% of live-born cases", "Mosaic trisomy 21, with a mixture of trisomic and disomic cell lines", "Robertsonian translocation trisomy 21, usually rob(14;21) or rob(21;21)", "Partial or segmental trisomy 21 (duplication of 21q, especially the 21q22 critical region)", "Isochromosome 21q and other rare rearrangements that yield three copies of 21q" ], "questions": [ { "id": "evidence-kinds-q01", "text": "Which of these kinds and varieties hold for the sense of Down 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": "Q47715", "note": "Primary item for the condition." }, { "scheme": "ICD-10 / ICD-10-CM", "value_or_pattern": "Q90, Q90.0, Q90.1, Q90.2, Q90.9", "note": "Q90.0 free trisomy, Q90.1 mosaic, Q90.2 translocation, Q90.9 unspecified." }, { "scheme": "ICD-11 MMS", "value_or_pattern": "LD40.0", "note": "Down syndrome under chromosomal disorders due to extra chromosomes." }, { "scheme": "OMIM", "value_or_pattern": "190685", "note": "Phenotype MIM number." }, { "scheme": "Orphanet", "value_or_pattern": "ORPHA:870", "note": "Rare-disease catalogue entry." }, { "scheme": "MeSH", "value_or_pattern": "D004314", "note": "NLM medical subject heading." }, { "scheme": "SNOMED CT", "value_or_pattern": "41040004", "note": "Clinical finding concept for Down syndrome." }, { "scheme": "MONDO", "value_or_pattern": "MONDO:0008608", "note": "Monarch Disease Ontology." }, { "scheme": "Disease Ontology", "value_or_pattern": "DOID:14250", "note": "Disease Ontology identifier." } ], "questions": [ { "id": "evidence-identifiers-q01", "text": "Which of these identifiers and schemes hold for the sense of Down 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": [ "ICD-10 and ICD-11 diagnostic coding (World Health Organization)", "Health Supervision for Children With Down Syndrome clinical report (American Academy of Pediatrics)", "Screening for Fetal Chromosomal Abnormalities, Practice Bulletin No. 226 (American College of Obstetricians and Gynecologists)", "NHS Fetal Anomaly Screening Programme standards for trisomy 21 screening (NHS England / UK National Screening Committee)", "ACMG technical standards and guidelines for noninvasive prenatal screening (American College of Medical Genetics and Genomics)", "UN Convention on the Rights of Persons with Disabilities, as applied to people with Down syndrome (United Nations)" ], "questions": [ { "id": "evidence-standards-and-regulation-q01", "text": "Which of these standards and regulation hold for the sense of Down 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": [ "Prenatal combined screening, cell-free DNA (NIPT), and diagnostic karyotype, FISH or microarray after a high-chance result", "Postnatal confirmation on a blood karyotype when the phenotype is recognised at birth", "Paediatric health-supervision visits that schedule heart, hearing, vision, thyroid, coeliac, sleep-apnoea and cervical-spine checks", "Genetic counselling, including parental karyotypes after a translocation case because of recurrence risk", "Education, disability and social-care eligibility under national special-education and disability-rights law", "Haematology pathways for transient abnormal myelopoiesis in newborns and later leukaemia surveillance" ], "questions": [ { "id": "evidence-real-world-use-q01", "text": "Which of these real-world use hold for the sense of Down 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": "Live-birth prevalence (many high-income settings)", "typical_range": "about 1 in 600-800 (roughly 1.2-1.7)", "unit": "per 1000 live births" }, { "quantity": "Share of live-born cases that are free trisomy 21", "typical_range": "about 90-95", "unit": "percent" }, { "quantity": "Congenital heart disease among live-born infants", "typical_range": "40-50", "unit": "percent" }, { "quantity": "Intellectual functioning (full-scale IQ, highly variable)", "typical_range": "about 35-70 in many clinic series", "unit": "IQ points" }, { "quantity": "Life expectancy in high-resource settings", "typical_range": "about 50-60", "unit": "years" }, { "quantity": "NIPT detection rate for trisomy 21 in singleton pregnancies with adequate fetal fraction", "typical_range": ">99", "unit": "percent" }, { "quantity": "Age-related live-birth risk at maternal age 40", "typical_range": "on the order of 1 in 100", "unit": "live births" } ], "questions": [ { "id": "evidence-measurements-q01", "text": "Which of these typical measurements hold for the sense of Down 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": [ "Atrioventricular septal defect and other congenital heart disease, a leading cause of early morbidity", "Duodenal atresia, Hirschsprung disease and other gastrointestinal malformations", "Transient abnormal myelopoiesis in newborns and later myeloid leukaemia of Down syndrome (often GATA1-related)", "Early-onset Alzheimer disease, driven in part by APP triplication on chromosome 21", "Atlantoaxial instability with risk of cervical spinal-cord injury during intubation, contact sport or poorly controlled head movement", "Obstructive sleep apnoea, conductive hearing loss, cataracts and refractive error", "Autoimmune thyroid disease, coeliac disease and increased infection risk", "High rate of miscarriage of trisomy-21 pregnancies; NIPT false positives (vanishing twin, low fetal fraction) if treated as diagnostic" ], "questions": [ { "id": "evidence-failure-modes-and-hazards-q01", "text": "Which of these failure modes and hazards hold for the sense of Down 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": [ "US advocacy and most American medical style prefer 'Down syndrome' (no possessive); UK and much of the Commonwealth still commonly use 'Down's syndrome' (NHS usage).", "The historical term 'mongolism' is obsolete and offensive in all current medical usage.", "Uptake of prenatal screening and rates of termination after a trisomy-21 diagnosis vary widely (very high in some Nordic programmes; much lower where abortion law, religion or late booking limit access).", "Life expectancy, heart-surgery access and adult-care pathways still differ sharply between high-resource and low-resource health systems." ], "questions": [ { "id": "evidence-regional-variation-q01", "text": "Which of these regional variation hold for the sense of Down 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": "Edwards syndrome (trisomy 18)", "difference": "Karyotype or CMA shows trisomy 18, not 21; phenotype is usually more growth-restricted, with clenched fists, overlapping fingers and much higher neonatal mortality." }, { "name": "Patau syndrome (trisomy 13)", "difference": "Karyotype or CMA shows trisomy 13; midline craniofacial defects, holoprosencephaly and postaxial polydactyly are typical and are not the Down syndrome pattern." }, { "name": "21q microduplication (segmental) versus free trisomy 21", "difference": "Chromosomal microarray shows a limited 21q gain rather than an extra free chromosome 21 on karyotype." }, { "name": "Mosaic versus complete trisomy 21", "difference": "Mosaicism is established by a mix of trisomic and disomic cells on karyotype or FISH, sometimes requiring a second tissue if blood is normal and the phenotype is strong." }, { "name": "Congenital hypothyroidism without aneuploidy", "difference": "Newborn TSH/free T4 can be abnormal in both; chromosome analysis (or equivalent) is what confirms or excludes trisomy 21." }, { "name": "De novo free trisomy 21 versus inherited Robertsonian translocation", "difference": "Karyotype shows an extra free 21 versus a derived translocation chromosome; parental karyotypes are required after a translocation case because of recurrence risk." }, { "name": "Transient abnormal myelopoiesis versus progressive myeloid leukaemia of Down syndrome", "difference": "TAM is a neonatal, usually GATA1-mutated, often self-limited proliferation; persistence, recurrence or later myeloid leukaemia is a distinct clinical course, not a different chromosome diagnosis." } ], "questions": [ { "id": "evidence-neighbours-q01", "text": "Which of these neighbouring kinds and how to tell them apart hold for the sense of Down syndrome this model covers, and on what evidence?", "kind": "provenance" } ] } ] } ] } ] }, "openQuestions": [ "Which existing Vercy world model, if any, already owns Down syndrome and should receive this registry link instead of a separate publication?", "What specialist criteria should govern inclusion of rare partial chromosome 21 duplications and discordant prenatal or tissue-specific findings?", "Which current pediatric and adult guidelines should govern surveillance in each supported jurisdiction, and how should conflicting recommendations be represented?", "Which measures best capture individual development and acquired decline across ages, languages and communication profiles without confusing lifelong differences with new impairment?", "What evidence and specialist pathways should govern suspected regression or dementia, including escalation thresholds and uncertainty about alternative explanations?" ], "statistics": { "bundles": 6, "layers": 11, "findings": 18, "questions": 31 } }, "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 Down syndrome, record what state it is in, and decide what may be done with it.", "whatItIs": "Enable an AI agent to distinguish suspected from confirmed Down syndrome, record an individual's condition-related state and support needs, and identify evidence-supported actions requiring appropriate clinical oversight and consent.", "characteristics": { "substance": "abstract", "origin": "conceptual", "agency": "inert" }, "whatYouCanDoWithIt": [ "observed and measured" ], "distinguishingFeatures": [ "Described in 99 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 Down syndrome, and on what evidence are they told apart?" ], "whatItIsMadeOf": "an abstraction with no physical instance", "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": [ "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": [], "standing": "Described in 99 Wikipedia languages, which measures how widely it is written about rather than how important or how common it is.", "structure": { "bundles": [ { "id": "identity-and-classification", "name": "Identity, naming and classification", "description": "How an agent tells one Down syndrome from another, and a Down 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 Down 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 Down 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 Down 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 Down 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 Down 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 Down 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 Down 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 Down 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 Down 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 Down 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 Down syndrome from the things most often confused with it.", "questions": [ { "id": "distinguishing-features-q01", "text": "What identifies and describes what distinguishes a Down 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 Down 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 Down 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 Down 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 Down syndrome between them.", "questions": [ { "id": "stages-and-transitions-q01", "text": "What identifies and describes the lifecycle of a Down 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 Down 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 Down 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 Down syndrome, how often and by whom.", "findings": [ { "id": "observation-record", "name": "Observation record", "description": "How an observation of a Down 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 Down 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 Down 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 Down 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 Down 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 Down 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 Down 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 Down 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 Down 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 Down 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 Down 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 Down syndrome and how confident it is.", "questions": [ { "id": "claim-provenance-q01", "text": "What identifies and describes a claim about a Down 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 Down 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 Down 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 Down syndrome is retired without being erased.", "questions": [ { "id": "validity-and-supersession-q01", "text": "What identifies and describes the validity of a claim about a Down 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 Down 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 Down syndrome is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] } ] } ] }, "statistics": { "bundles": 5, "layers": 10, "findings": 12, "questions": 32 } } } }