{ "model": { "rank": 5925, "code": "thing-q202849", "model_id": "vr.tr.turner-syndrome", "name": "Turner syndrome", "purpose": "Enable an AI agent to recognise a documented Turner syndrome diagnosis, assess its individual manifestations and unresolved risks, and support appropriate clinical review across the lifespan.", "family": "Thing Registry", "category": "Cross-cutting context", "status": "research-draft", "kind": "thing", "plane": "XCT", "domain": "XCT.QLT", "industry": "", "version": "", "url": "/models/thing/q202849/", "tier": 2, "score": 64, "payload": { "layer": "wikidata", "aliases": [ "mosaic monosomy XX/X0", "Turner syndrome due to structural X chromosome anomalies", "monosomy X", "mixed gonadal dysgenesis X0/XY" ], "aliasCount": 4, "merged": 4, "knownIn": 64, "facets": null, "markers": [], "lexicalClass": "", "senseRank": null, "alsoRegisteredAs": null, "source": { "dataset": "wikidata", "item": "Q202849", "url": "https://www.wikidata.org/wiki/Q202849", "license": "CC0 1.0" } }, "research": { "vercy": "1.0-draft", "publication": { "status": "research-draft", "adjudicationStatus": "unreviewed", "publishableCanonical": false, "generatedAt": "2026-09-07T10:10:58Z", "providers": [ "Codex", "Grok" ], "missingProviders": [], "pass": 2, "cost": { "grok": { "usd": 0.00558076, "turns": 1, "seconds": 92.9, "error": null }, "codex": { "seconds": 107.1, "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: 01a07b56-1b65-78e2-8c28-7df65236d5cc\n--------\nuser\nYou are drafting a Vercy meta-model for one registered thing. Answer as JSON only, no prose around it.\n\nThing: Turner syndrome\nRegistry id: vr.tr.turner-syndrome\nPlane / domain: XCT / XCT.QLT\nRegistry definition: (none recorded)\nNames folded into this entry: (" } } }, "metaModel": { "id": "THING-Q202849", "registryId": "vr.tr.turner-syndrome", "name": "Turner syndrome", "version": "0.1.0-research.1", "entryKind": "thing", "family": "Thing Registry", "domain": [ "XCT.QLT" ], "status": "research-draft" }, "canonicalUrl": "https://ver.cy/models/thing/q202849/", "model": { "registry_id": "vr.tr.turner-syndrome", "name": "Turner syndrome", "purpose": "Enable an AI agent to recognise a documented Turner syndrome diagnosis, assess its individual manifestations and unresolved risks, and support appropriate clinical review across the lifespan.", "definition": "Turner syndrome is a chromosomal condition in 45,X and related sex-chromosome complement disorders in phenotypic females, caused by complete or mosaic loss of one X chromosome (or structurally abnormal second sex chromosome), producing short stature, gonadal dysgenesis with hypergonadotropic hypogonadism, and a characteristic pattern of congenital and acquired anomalies.", "scope_statement": "This model owns the Turner syndrome condition profile for vr.tr.turner-syndrome in XCT / XCT.QLT: diagnostic evidence, individual manifestations, surveillance dependencies and decisions requiring specialist assessment; its proposed structure is informed by the [2024 international clinical guideline](https://tss.org.uk/downloads/TS_International_Guidelines.pdf).", "in_scope": [ "Constitutional sex-chromosome findings, mosaicism and diagnostic uncertainty", "Individual growth, pubertal, ovarian and reproductive state", "Cardiovascular anatomy, aortic measurements and risk-review status", "Turner-related multisystem surveillance and outstanding assessments", "Treatment response, personal priorities and continuity of specialist care" ], "out_of_scope": [ "The person's identity, gender and complete longitudinal health record", "Laboratory assay implementation and general cytogenetic nomenclature", "Independent disease models for aortic disease, diabetes, thyroid disease and other comorbidities", "Drug formulation, prescribing protocols and medication supply", "Detailed fertility procedures, pregnancy management and surgical techniques" ], "distinguishing_features": [ "Require compatible clinical manifestations and documented complete or partial absence of the second sex chromosome; short stature, neck webbing or ovarian insufficiency alone cannot distinguish Turner syndrome from Noonan syndrome or other causes.", "Distinguish a prenatal screening signal from a confirmed constitutional chromosome finding, preserving whether evidence concerns the fetus, placenta or pregnant person.", "Do not equate Turner syndrome exclusively with non-mosaic 45,X; retain mosaic cell lines and structural sex-chromosome findings.", "Check deletion boundaries before assigning Turner syndrome: isolated SHOX-related short stature and deletions distal to Xq24 require different diagnostic consideration.", "Separate constitutional mosaicism from age-related X loss, and separate diagnostic classification from the applicability of Turner surveillance to 45,X/46,XY individuals." ], "characteristics": [ { "name": "Diagnostic standing", "kind": "state", "unit_or_values": "suspected | screening-positive | confirmed | disputed | excluded; assessor and date", "why_it_matters": "Prevents an unconfirmed signal from becoming a permanent diagnosis." }, { "name": "Sex-chromosome constitution", "kind": "category", "unit_or_values": "Reported karyotype, structural alteration and identified cell lines; unresolved permitted", "why_it_matters": "Preserves the actual basis of classification." }, { "name": "Observed mosaicism", "kind": "measurement", "unit_or_values": "Cells per cell line / cells examined and percentage, with tissue, method and detection limit", "why_it_matters": "Keeps a sampled tissue result distinct from an assumed whole-body composition." }, { "name": "Y-chromosome material assessment", "kind": "state", "unit_or_values": "detected | not detected by stated assay | indeterminate | not assessed", "why_it_matters": "Makes gonadal risk assessment traceable without treating missing testing as a negative result." }, { "name": "Growth trajectory", "kind": "measurement", "unit_or_values": "Height in cm, velocity in cm/year, reference-specific height SDS and bone age in years", "why_it_matters": "Supports assessment of growth potential and response to an agreed intervention." }, { "name": "Pubertal and ovarian function", "kind": "state", "unit_or_values": "Pubertal stage, spontaneous or induced progression, menstrual history and clinician interpretation of dated hormone results", "why_it_matters": "Separates observed development from assumptions based on karyotype." }, { "name": "Aortic dimensions", "kind": "measurement", "unit_or_values": "Segment diameter in mm; applicable ASI in cm/m², AHI in mm/m or reference-specific Z-score; imaging date and method", "why_it_matters": "Allows comparison with an appropriate reference and earlier measurements." }, { "name": "Cardiovascular context", "kind": "relation", "unit_or_values": "Links to valve and arch findings, aortic history, blood pressure assessments and cardiology interpretation", "why_it_matters": "Prevents an aortic measurement from being interpreted without its clinical context." }, { "name": "Surveillance completion", "kind": "state", "unit_or_values": "For each applicable assessment: not assessed | current | due | overdue | abnormal awaiting review | deferred with reason", "why_it_matters": "Distinguishes absence of disease from absence of assessment." }, { "name": "Intervention decision", "kind": "relation", "unit_or_values": "Proposed action linked to indication, prerequisites, clinician decision, patient preference and review date", "why_it_matters": "Keeps suggested actions separate from authorised care." } ], "affordances": [ "Assemble diagnostic evidence and flag unresolved chromosome or phenotype discrepancies for genetics review.", "Compare dated growth, pubertal and aortic observations while preserving measurement methods and reference systems.", "Identify missing or overdue Turner-specific assessments using a named, versioned clinical guideline.", "Prepare specialist review questions about growth treatment, hormone replacement, gonadal management or fertility.", "Surface documented cardiovascular escalation instructions and unresolved prerequisites for pregnancy or exercise decisions.", "Produce a transition summary linking current manifestations, treatments, patient priorities and accountable clinicians." ] }, "sources": [ { "id": "nih-ghr-turner", "title": "Turner syndrome", "url": "https://medlineplus.gov/genetics/condition/turner-syndrome/", "what_it_supports": "Clinical definition, karyotype varieties, congenital and later health findings used in kinds, real-world use, measurements, and neighbours.", "url_status": "live" }, { "id": "acmg-turner-guideline", "title": "Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting", "url": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5409483/", "what_it_supports": "Diagnostic criteria, karyotype classes used in practice, surveillance measurements, cardiovascular and metabolic hazards, and care standards.", "url_status": "live" }, { "id": "icd11-ld50", "title": "ICD-11 MMS: LD50 Turner syndrome", "url": "https://icd.who.int/browse/2025-01/mms/en#1172609568", "what_it_supports": "Identifier scheme and WHO classification of Turner syndrome as a sex-chromosome aneuploidy.", "url_status": "live" }, { "id": "orkanet-turner", "title": "Turner syndrome (ORPHA:881)", "url": "https://www.orpha.net/en/disease/detail/881", "what_it_supports": "Orphanet identifier, prevalence order of magnitude, and rare-disease framing.", "url_status": "live" } ], "structure": { "bundles": [ { "id": "diagnostic-constitution", "name": "Diagnostic constitution", "description": "The evidence that establishes this individual's relationship to the Turner syndrome category.", "rationale": "Recognition depends on chromosome evidence and its interpretation rather than appearance alone.", "layers": [ { "id": "chromosome-evidence", "name": "Chromosome evidence", "description": "What was tested, what was observed and what the test could establish.", "findings": [ { "id": "constitutional-chromosome-result", "name": "Constitutional chromosome result", "description": "Record the original laboratory result with specimen identity, tissue, method, cell counts and limitations.", "questions": [ { "text": "Which sex-chromosome cell lines or structural alterations were reported, and in what tissue?", "kind": "definition", "id": "constitutional-chromosome-result-q01" }, { "text": "Which report, sampling date, cell count and detection limits support that result?", "kind": "provenance", "id": "constitutional-chromosome-result-q02" } ] } ] }, { "id": "diagnostic-boundaries", "name": "Diagnostic boundaries", "description": "How chromosome findings, manifestations and competing explanations were reconciled.", "findings": [ { "id": "classification-and-surveillance-applicability", "name": "Classification and surveillance applicability", "description": "Record the specialist's diagnostic conclusion separately from any decision to apply Turner surveillance.", "questions": [ { "text": "How were prenatal screening ambiguity, isolated chromosome deletions, alternative syndromes or age-related X loss addressed?", "kind": "boundary", "id": "classification-and-surveillance-applicability-q01" }, { "text": "If a 45,X/46,XY finding crosses diagnostic conventions, what classification and surveillance plan did the specialist document?", "kind": "action", "id": "classification-and-surveillance-applicability-q02" } ] } ] } ] }, { "id": "aortic-and-cardiovascular-state", "name": "Aortic and cardiovascular state", "description": "The cardiovascular observations and interpretations that constrain safe next steps.", "rationale": "Aortic assessment needs its own decision context rather than a generic comorbidity flag.", "layers": [ { "id": "cardiovascular-anatomy-and-trend", "name": "Cardiovascular anatomy and trend", "description": "Comparable evidence about the aorta, valves, arch and blood pressure.", "findings": [ { "id": "interpretable-cardiovascular-baseline", "name": "Interpretable cardiovascular baseline", "description": "Retain imaging coverage, segment measurements, indexing method, congenital findings and dated blood pressure results.", "questions": [ { "text": "Which aortic segments, valve morphology and arch features were adequately visualised, and which remain uncertain?", "kind": "measurement", "id": "interpretable-cardiovascular-baseline-q01" }, { "text": "Are serial aortic dimensions comparable by segment, technique and body-size reference, and what blood pressure evidence accompanies them?", "kind": "measurement", "id": "interpretable-cardiovascular-baseline-q02" } ] } ] }, { "id": "cardiovascular-action-constraints", "name": "Cardiovascular action constraints", "description": "Specialist interpretation, surveillance timing and escalation instructions.", "findings": [ { "id": "cardiovascular-review-plan", "name": "Cardiovascular review plan", "description": "Record the cardiologist's assessment and its consequences for follow-up, activity, pregnancy assessment or intervention review.", "questions": [ { "text": "Which current findings and guideline version support the assigned follow-up interval or activity advice?", "kind": "provenance", "id": "cardiovascular-review-plan-q01" }, { "text": "What symptoms or measurement changes trigger urgent evaluation, and who owns the response?", "kind": "action", "id": "cardiovascular-review-plan-q02" } ] } ] } ] }, { "id": "growth-and-sex-hormone-course", "name": "Growth and sex-hormone course", "description": "Individual growth potential, pubertal development and treatment response.", "rationale": "Growth and pubertal decisions must account for each other's timing and the person's priorities.", "layers": [ { "id": "linear-growth", "name": "Linear growth", "description": "Observed stature trajectory and assessment of remaining growth.", "findings": [ { "id": "growth-potential-and-response", "name": "Growth potential and response", "description": "Record serial growth, skeletal maturation and the rationale and outcome of any growth-directed treatment.", "questions": [ { "text": "What do dated height, growth velocity and skeletal maturation assessments show using explicitly named references?", "kind": "measurement", "id": "growth-potential-and-response-q01" }, { "text": "What goal, response, safety observations and patient preference support continuing, changing or ending growth treatment?", "kind": "action", "id": "growth-potential-and-response-q02" } ] } ] }, { "id": "puberty-and-hormone-replacement", "name": "Puberty and hormone replacement", "description": "Spontaneous development, ovarian insufficiency assessment and prescribed hormone exposure.", "findings": [ { "id": "pubertal-course-and-replacement-response", "name": "Pubertal course and replacement response", "description": "Distinguish endogenous development from treatment-associated changes and document the reviewed replacement plan.", "questions": [ { "text": "Which pubertal changes, menstrual events and hormone results occurred spontaneously or during treatment?", "kind": "measurement", "id": "pubertal-course-and-replacement-response-q01" }, { "text": "What endocrine assessment supports the current estrogen and, where applicable, progestogen plan, including response and tolerability?", "kind": "action", "id": "pubertal-course-and-replacement-response-q02" } ] } ] } ] }, { "id": "gonadal-and-reproductive-decisions", "name": "Gonadal and reproductive decisions", "description": "Gonadal assessment, fertility goals and prerequisites for reproductive decisions.", "rationale": "Ovarian function, gonadal risk and the ability to safely carry a pregnancy are distinct judgments.", "layers": [ { "id": "gonadal-evidence", "name": "Gonadal evidence", "description": "Evidence relevant to gonadal function and any chromosome-associated management question.", "findings": [ { "id": "gonadal-function-and-y-material-review", "name": "Gonadal function and Y-material review", "description": "Link ovarian-function assessments and Y-material findings to an individual specialist interpretation.", "questions": [ { "text": "What evidence supports the current assessment of ovarian function, and what uncertainty remains about future fertility?", "kind": "measurement", "id": "gonadal-function-and-y-material-review-q01" }, { "text": "If Y material is detected or suspected, what gonadal risk discussion, options and agreed decision are documented?", "kind": "action", "id": "gonadal-function-and-y-material-review-q02" } ] } ] }, { "id": "reproductive-options-and-prerequisites", "name": "Reproductive options and prerequisites", "description": "The person's reproductive intentions and the assessments required for each contemplated option.", "findings": [ { "id": "individual-reproductive-decision", "name": "Individual reproductive decision", "description": "Record fertility counselling and preservation discussions separately from pregnancy risk assessment.", "questions": [ { "text": "Which reproductive goals and options has the person chosen to discuss, and what evidence supports their feasibility?", "kind": "action", "id": "individual-reproductive-decision-q01" }, { "text": "Before attempted pregnancy or embryo transfer, what cardiovascular and maternal-fetal assessments remain unresolved?", "kind": "boundary", "id": "individual-reproductive-decision-q02" } ] } ] } ] }, { "id": "multisystem-manifestations", "name": "Multisystem manifestations", "description": "Individual organ findings and assessment gaps relevant to Turner care.", "rationale": "A single severity label cannot represent independent organ states or incomplete surveillance.", "layers": [ { "id": "renal-sensory-and-skeletal-state", "name": "Renal, sensory and skeletal state", "description": "Structural and functional observations affecting daily life or follow-up.", "findings": [ { "id": "organ-findings-and-functional-impact", "name": "Organ findings and functional impact", "description": "Record renal anatomy and function, hearing and ear assessments, visual concerns, skeletal findings and lymphoedema when assessed.", "questions": [ { "text": "Which renal, hearing, visual, skeletal or lymphatic findings are documented, absent on assessment or still unassessed?", "kind": "measurement", "id": "organ-findings-and-functional-impact-q01" }, { "text": "Which findings require specialist follow-up or changes to communication, mobility or daily support?", "kind": "action", "id": "organ-findings-and-functional-impact-q02" } ] } ] }, { "id": "endocrine-metabolic-and-bone-surveillance", "name": "Endocrine, metabolic and bone surveillance", "description": "Assessment status for additional endocrine, immune, metabolic, hepatic and bone concerns.", "findings": [ { "id": "screening-results-and-follow-through", "name": "Screening results and follow-through", "description": "Link thyroid, coeliac, glucose, lipid, liver and bone assessments to dated results and accountable follow-up.", "questions": [ { "text": "Which assessments are applicable and current under the selected guideline, and which abnormal results remain unresolved?", "kind": "measurement", "id": "screening-results-and-follow-through-q01" }, { "text": "How were short stature, hormone exposure and fracture history considered when interpreting bone-density results?", "kind": "boundary", "id": "screening-results-and-follow-through-q02" } ] } ] } ] }, { "id": "participation-and-lifelong-care", "name": "Participation and lifelong care", "description": "Individual support needs and continuity of Turner-specific care.", "rationale": "A usable condition model must connect clinical plans to the person's capabilities, preferences and access.", "layers": [ { "id": "learning-and-psychosocial-function", "name": "Learning and psychosocial function", "description": "Observed strengths, difficulties and desired support without inferring ability from diagnosis.", "findings": [ { "id": "individual-functional-profile", "name": "Individual functional profile", "description": "Record assessed learning, executive, visuospatial, social and emotional functioning together with the person's account.", "questions": [ { "text": "Which strengths or difficulties are demonstrated by assessment or reported experience rather than assumed from Turner syndrome?", "kind": "provenance", "id": "individual-functional-profile-q01" }, { "text": "What educational, workplace, hearing-access or psychological support does the person want, and has it helped?", "kind": "action", "id": "individual-functional-profile-q02" } ] } ] }, { "id": "transition-and-care-ownership", "name": "Transition and care ownership", "description": "Transfer and maintenance of the condition-specific care plan across life stages.", "findings": [ { "id": "continuous-turner-care-plan", "name": "Continuous Turner care plan", "description": "Connect surveillance, endocrine treatment, cardiovascular follow-up and reproductive counselling to named services.", "questions": [ { "text": "Which clinician or service owns each outstanding Turner-related assessment, particularly during transfer to adult care?", "kind": "action", "id": "continuous-turner-care-plan-q01" }, { "text": "Can the person access and use their chromosome report, current treatment plan, cardiovascular summary and next-review dates?", "kind": "boundary", "id": "continuous-turner-care-plan-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": [ "45,X (non-mosaic monosomy X)", "45,X/46,XX mosaicism", "45,X/46,XY mosaicism (mixed gonadal dysgenesis spectrum)", "46,X,i(Xq) isochromosome Xq", "46,X,r(X) ring X (including small ring X with risk of intellectual disability)", "Xp or Xq deletions / other structural X rearrangements", "45,X/47,XXX and other complex mosaics" ], "questions": [ { "id": "evidence-kinds-q01", "text": "Which of these kinds and varieties hold for the sense of Turner 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": "Q202768", "note": "Item for Turner syndrome." }, { "scheme": "ICD-11 MMS", "value_or_pattern": "LD50", "note": "Turner syndrome under sex chromosome aneuploidies." }, { "scheme": "ICD-10-CM", "value_or_pattern": "Q96.*", "note": "Q96.0 Karyotype 45,X; Q96.1 46,X iso (Xq); Q96.2 46,X with abnormal sex chromosome except iso (Xq); Q96.3 Mosaicism, 45,X/46,XX or XY; Q96.4 Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome; Q96.8 Other variants; Q96.9 Unspecified." }, { "scheme": "OMIM", "value_or_pattern": "163950", "note": "Phenotypic series / Turner syndrome entry." }, { "scheme": "Orphanet", "value_or_pattern": "ORPHA:881", "note": "Rare-disease identifier." }, { "scheme": "MeSH", "value_or_pattern": "D014424", "note": "Turner Syndrome." }, { "scheme": "SNOMED CT", "value_or_pattern": "38804009", "note": "Concept for Turner syndrome (disorder); mosaicism and karyotype subtypes have additional codes." }, { "scheme": "MONDO", "value_or_pattern": "MONDO:0019499", "note": "Turner syndrome disease class." }, { "scheme": "Karyotype (ISCN)", "value_or_pattern": "45,X ; 45,X/46,XX ; 45,X/46,XY ; 46,X,i(X)(q10) ; 46,X,r(X)", "note": "Laboratory designation of the causal sex-chromosome complement, not a disease code." } ], "questions": [ { "id": "evidence-identifiers-q01", "text": "Which of these identifiers and schemes hold for the sense of Turner 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": [ "International Turner Syndrome Consensus Group / Endocrine Society-aligned 2016 Cincinnati clinical practice guidelines for diagnosis and lifelong care of girls and women with Turner syndrome (Gravholt et al., European Journal of Endocrinology).", "ACOG / ACMG / related professional guidance on prenatal cell-free DNA screening, diagnostic karyotype or chromosomal microarray confirmation, and counselling when a sex-chromosome aneuploidy is suggested.", "ISCN (International System for Human Cytogenomic Nomenclature, ISCN 2020/2024) for reporting 45,X and mosaic/structural variants.", "WHO ICD-10 Q96 and ICD-11 LD50 as the statistical classification used in health records and rare-disease coding.", "Newborn and childhood growth standards used with condition-specific growth charts (e.g. Lyon/Ranke Turner syndrome charts) rather than general female charts alone.", "National newborn, paediatric endocrinology, and congenital heart programmes implement the consensus rather than a single statute; no unique drug-class marketing authorisation defines the syndrome itself." ], "questions": [ { "id": "evidence-standards-and-regulation-q01", "text": "Which of these standards and regulation hold for the sense of Turner 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 suspicion from increased nuchal translucency, cystic hygroma, coarctation, horseshoe kidney, or non-invasive prenatal testing showing missing X material, then confirmatory amniocentesis/CVS karyotype or microarray.", "Postnatal diagnosis in a neonate with lymphoedema of hands/feet, webbed neck, left-sided heart lesion, or in a girl investigated for short stature, delayed puberty, or primary amenorrhoea.", "Lifelong multidisciplinary care: paediatric then adult endocrinology (GH then oestrogen/progestin replacement), cardiology (aortic imaging), audiology, fertility counselling, and screening for autoimmune thyroid disease, coeliac disease, and metabolic risk.", "Karyotype, FISH, and chromosomal microarray are used to define mosaicism and Y-chromosome material that changes gonadectomy counselling.", "Epidemiology and health-service planning treat it as a relatively common sex-chromosome aneuploidy (~1 in 2,000-2,500 liveborn females), with many 45,X conceptions lost as miscarriage." ], "questions": [ { "id": "evidence-real-world-use-q01", "text": "Which of these real-world use hold for the sense of Turner 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 among phenotypic females", "typical_range": "about 1 in 2,000 to 1 in 2,500", "unit": "live female births" }, { "quantity": "Adult untreated height", "typical_range": "approximately 20 cm below population female mean (often ~143-147 cm without GH, depending on parental heights and karyotype)", "unit": "cm" }, { "quantity": "Childhood growth hormone dosing (consensus starting range)", "typical_range": "45-50", "unit": "µg/kg/day" }, { "quantity": "Serum FSH (post-gonadal failure / adolescence onward)", "typical_range": "markedly elevated (hypergonadotropic range, often tens to >100)", "unit": "IU/L" }, { "quantity": "Aortic size index (surveillance for aortopathy)", "typical_range": "intervention/concern often discussed around ASI ≥2.5 in adults, with lower thresholds in the presence of bicuspid aortic valve or coarctation", "unit": "cm/m²" }, { "quantity": "Blood pressure", "typical_range": "hypertension is common from childhood/young adulthood; treat to age-appropriate targets", "unit": "mmHg" }, { "quantity": "Hearing threshold (sensorineural and/or conductive loss)", "typical_range": "clinically important loss in a large minority to majority by adulthood; serial audiometry rather than a single cut-off", "unit": "dB HL" }, { "quantity": "Mosaicism fraction (45,X vs second cell line)", "typical_range": "0-100% 45,X cells depending on tissue; blood karyotype underestimates some mosaics", "unit": "% cells" } ], "questions": [ { "id": "evidence-measurements-q01", "text": "Which of these typical measurements hold for the sense of Turner 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": [ "Left-sided congenital heart disease (bicuspid aortic valve, coarctation) and progressive aortopathy with risk of aortic dissection, especially in pregnancy or with uncontrolled hypertension.", "Ovarian dysgenesis causing absent puberty, infertility, and unopposed hypo-oestrogen risks (bone, uterus, cardiovascular) if replacement is omitted or delayed.", "If Y-chromosome material is present, risk of gonadoblastoma in streak gonads, which is the usual indication for prophylactic gonadectomy.", "Autoimmune thyroid disease, coeliac disease, abnormal glucose tolerance/diabetes, dyslipidaemia, and fatty liver with excess metabolic risk in adults.", "Recurrent otitis, conductive and sensorineural hearing loss, and speech/learning effects of hearing impairment.", "Lymphoedema, renal malformations (horseshoe kidney), hepatic enzyme elevation, and scoliosis as structural comorbidities.", "Small ring X karyotypes can include intellectual disability when XIST-negative rings fail to inactivate.", "High embryonic lethality of non-mosaic 45,X; liveborn cases are a selected subset, often mosaic in unsampled tissues.", "Misattribution of NIPT sex-chromosome calls without diagnostic confirmation, and missed diagnosis when only a 30-cell blood karyotype is used in a mosaic girl with unexplained short stature." ], "questions": [ { "id": "evidence-failure-modes-and-hazards-q01", "text": "Which of these failure modes and hazards hold for the sense of Turner 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": [ "Historical eponyms: Henry Turner (1938, United States) vs Ullrich-Turner or Ullrich-Bonnevie in German-language literature; Seresevskij-Turner in some older Russian sources.", "Age at diagnosis still shifts by health system: prenatal NIPT uptake versus later presentation with short stature where routine paediatric growth screening is weaker.", "Growth-hormone start age, adult-care transition, and access to oocyte donation/IVF vary widely with reimbursement and fertility-law regimes.", "ICD-10 Q96 remains dominant in many billing systems while ICD-11 LD50 is rolling out; mosaic 45,X/46,XY may be coded or clinic-labelled as mixed gonadal dysgenesis rather than Turner syndrome depending on phenotype and service (endocrinology vs DSD surgery).", "Condition-specific growth charts and aortic-imaging intervals follow the 2016 international guideline in many high-resource centres; low-resource settings may diagnose only on amenorrhoea/short stature without cardiac MRI surveillance." ], "questions": [ { "id": "evidence-regional-variation-q01", "text": "Which of these regional variation hold for the sense of Turner 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": "Noonan syndrome", "difference": "Noonan is a RASopathy with normal female sex chromosomes; distinguish by karyotype (46,XX) plus PTPN11/other RAS-MAPK gene testing. Shared neck/chest/heart gestalt does not make the diagnosis." }, { "name": "46,XX gonadal dysgenesis / premature ovarian insufficiency without Turner karyotype", "difference": "Hypergonadotropic hypogonadism with short stature and somatic Turner stigmata absent or unexplained; 30-cell karyotype, chromosomal microarray, and if needed buccal/tissue studies exclude occult 45,X mosaicism." }, { "name": "Mixed gonadal dysgenesis / 45,X/46,XY DSD", "difference": "Overlaps the mosaic Turner spectrum; presence of Y material, genital ambiguity, and gonadoblastoma risk shift labelling and surgical pathway. FISH/PCR for SRY/Y sequences on the same sample used for karyotype is the separator." }, { "name": "Klinefelter syndrome (47,XXY)", "difference": "Opposite sex-chromosome aneuploidy in phenotypic males (tall stature, small testes, infertility); karyotype, not phenotype nicknames, separates them." }, { "name": "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome", "difference": "Müllerian agenesis with normal 46,XX karyotype and usually normal ovarian function; pelvic imaging plus karyotype and gonadotrophins separate MRKH from Turner streak gonads and a present but often small uterus." }, { "name": "Constitutional delay of growth and puberty / isolated short stature", "difference": "Normal karyotype, timely (if late) endogenous puberty, and no Turner somatic or cardiac/renal findings; karyotype is indicated in unexplained short girls, especially with high FSH." }, { "name": "Trisomy X (47,XXX) and other sex-chromosome mosaics without a 45,X lineage", "difference": "Tall or normal stature is typical of 47,XXX; diagnosis is cytogenetic. 45,X/47,XXX mosaics are classified with Turner when a 45,X line is present." } ], "questions": [ { "id": "evidence-neighbours-q01", "text": "Which of these neighbouring kinds and how to tell them apart hold for the sense of Turner syndrome this model covers, and on what evidence?", "kind": "provenance" } ] } ] } ] } ] }, "openQuestions": [ "Which diagnostic conventions should this registry adopt for low-level or tissue-limited mosaicism and 45,X/46,XY presentations while retaining separate surveillance eligibility?", "How reliably can tissue-specific mosaic fractions or structural X findings predict individual outcomes, and which predictions remain unsupported?", "Which aortic reference systems and decision thresholds should govern different ages, body sizes and pregnancy contexts when measurements disagree?", "What evidence supports the timing, benefit and longer-term outcomes of fertility preservation and alternative gonadal-management strategies in different Turner presentations?", "Which surveillance intervals and patient-reported outcome measures best support older adults and people with limited access to specialist Turner care?" ], "statistics": { "bundles": 7, "layers": 13, "findings": 20, "questions": 32 } }, "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 Turner syndrome, record what state it is in, and decide what may be done with it.", "whatItIs": "Enable an AI agent to recognise a documented Turner syndrome diagnosis, assess its individual manifestations and unresolved risks, and support appropriate clinical review across the lifespan.", "characteristics": { "substance": "abstract", "origin": "conceptual", "agency": "inert" }, "whatYouCanDoWithIt": [ "observed and measured" ], "distinguishingFeatures": [ "Names folded into this entry, which a task may need to split apart again: mosaic monosomy XX/X0, Turner syndrome due to structural X chromosome anomalies, monosomy X, mixed gonadal dysgenesis X0/XY.", "4 finer distinctions are held as aliases rather than separate entries, because telling them apart needs a task that asks for it.", "Described in 64 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 Turner 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": [ { "relation": "covers", "note": "Finer kinds folded into this entry because telling them apart needs a task that asks for it. Each is a model waiting to be split out when one does.", "targets": [ "mosaic monosomy XX/X0", "Turner syndrome due to structural X chromosome anomalies", "monosomy X", "mixed gonadal dysgenesis X0/XY" ] } ], "standing": "Described in 64 Wikipedia languages, which measures how widely it is written about rather than how important or how common it is. 4 finer distinctions are held inside this entry as names rather than as separate models.", "structure": { "bundles": [ { "id": "identity-and-classification", "name": "Identity, naming and classification", "description": "How an agent tells one Turner syndrome from another, and a Turner 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 Turner 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 Turner 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 Turner 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 Turner 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 Turner 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 Turner 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 Turner 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 Turner 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 Turner 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 Turner 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 Turner syndrome from the things most often confused with it.", "questions": [ { "id": "distinguishing-features-q01", "text": "What identifies and describes what distinguishes a Turner 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 Turner 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 Turner 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 Turner 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 Turner syndrome between them.", "questions": [ { "id": "stages-and-transitions-q01", "text": "What identifies and describes the lifecycle of a Turner 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 Turner 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 Turner 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 Turner syndrome, how often and by whom.", "findings": [ { "id": "observation-record", "name": "Observation record", "description": "How an observation of a Turner 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 Turner 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 Turner 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 Turner 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 Turner 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 Turner 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 Turner 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 Turner 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 Turner 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 Turner 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 Turner 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 Turner syndrome and how confident it is.", "questions": [ { "id": "claim-provenance-q01", "text": "What identifies and describes a claim about a Turner 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 Turner 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 Turner 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 Turner syndrome is retired without being erased.", "questions": [ { "id": "validity-and-supersession-q01", "text": "What identifies and describes the validity of a claim about a Turner 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 Turner 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 Turner 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 } } } }