{ "model": { "rank": 6646, "code": "thing-q207133", "model_id": "vr.tr.klinefelter-s-syndrome", "name": "Klinefelter's syndrome", "purpose": "Enable an agent to recognise Klinefelter's syndrome, distinguish diagnostic evidence from variable manifestations, and identify appropriate assessment and support needs.", "family": "Thing Registry", "category": "Cross-cutting context", "status": "research-draft", "kind": "thing", "plane": "XCT", "domain": "XCT.QLT", "industry": "", "version": "", "url": "/models/thing/q207133/", "tier": 2, "score": 59, "payload": { "layer": "wikidata", "aliases": [ "XXYYY syndrome", "mosaic Klinefelter syndrome" ], "aliasCount": 2, "merged": 2, "knownIn": 59, "facets": null, "markers": [], "lexicalClass": "", "senseRank": null, "alsoRegisteredAs": null, "source": { "dataset": "wikidata", "item": "Q207133", "url": "https://www.wikidata.org/wiki/Q207133", "license": "CC0 1.0" } }, "research": { "vercy": "1.0-draft", "publication": { "status": "research-draft", "adjudicationStatus": "unreviewed", "publishableCanonical": false, "generatedAt": "2026-09-09T23:12:14Z", "providers": [ "Codex" ], "breadth": "recalled by Codex without web access - no source was read", "missingProviders": [], "pass": 2, "cost": { "grok": { "seconds": 22.8, "error": "Reading additional input from stdin...\nOpenAI Codex v0.153.4\n--------\nworkdir: R:\\02_PROJECTS\\02_Meta_Models_Platforms\\Ver.cy\\current\\thing-registry-backlog\nmodel: gpt-6-astra\nprovider: openai\napproval: never\nsandbox: read-only\nreasoning effort: none\nreasoning summaries: none\nsession id: 01a08870-74b8-7942-943d-7167c4c9288a\n--------\nuser\nDescribe what is already known about one registered thing. Answer as JSON only, no prose around it.\n\nThing: Klinefelter's syndrome\nSense to describe: (none recorded)\nDomain code: XCT.QLT\nAlso known as: (none)\n\n\nContext for this batch of 1001 things:\n# Batch 00", "usd": 0, "recall": true }, "codex": { "seconds": 68.8, "error": "Reading additional input from stdin...\nOpenAI Codex v0.153.4\n--------\nworkdir: R:\\02_PROJECTS\\02_Meta_Models_Platforms\\Ver.cy\\current\\thing-registry-backlog\nmodel: gpt-6-astra\nprovider: openai\napproval: never\nsandbox: read-only\nreasoning effort: none\nreasoning summaries: none\nsession id: 01a08870-74ab-7450-bf95-5f03ef976bfa\n--------\nuser\nYou are drafting a Vercy meta-model for one registered thing. Answer as JSON only, no prose around it.\n\nThing: Klinefelter's syndrome\nRegistry id: vr.tr.klinefelter-s-syndrome\nPlane / domain: XCT / XCT.QLT\nRegistry definition: (none recorded)\nNames folded into" } } }, "metaModel": { "id": "THING-Q207133", "registryId": "vr.tr.klinefelter-s-syndrome", "name": "Klinefelter's syndrome", "version": "0.1.0-research.1", "entryKind": "thing", "family": "Thing Registry", "domain": [ "XCT.QLT" ], "status": "research-draft" }, "canonicalUrl": "https://ver.cy/models/thing/q207133/", "model": { "registry_id": "vr.tr.klinefelter-s-syndrome", "name": "Klinefelter's syndrome", "purpose": "Enable an agent to recognise Klinefelter's syndrome, distinguish diagnostic evidence from variable manifestations, and identify appropriate assessment and support needs.", "definition": "Klinefelter syndrome is a sex chromosome condition in individuals with a male phenotype, usually associated with a 47,XXY karyotype, that commonly causes impaired testicular function and sperm production, with variable physical, developmental and metabolic features.", "scope_statement": "This model owns the condition-level representation of vr.tr.klinefelter-s-syndrome within XCT / XCT.QLT: chromosomal basis, diagnostic certainty, individual manifestations, life-course assessment and management considerations, while keeping the person, diagnostic assertion and episode of care distinct.", "in_scope": [ "47,XXY and mosaic 46,XY/47,XXY presentations, with explicit boundaries for other sex-chromosome variations", "Chromosome-test evidence, ascertainment pathway and diagnostic certainty", "Age-dependent gonadal, endocrine, reproductive and developmental manifestations", "Associated health risks, assessed complications and functional support needs", "Condition-specific management decisions and unresolved evidence" ], "out_of_scope": [ "The person's identity, gender identity and complete health record", "Laboratory procedures and specimen workflows as independently managed processes", "Individual visits, referrals and episodes of care", "Independent models of infertility, osteoporosis, diabetes and other associated conditions", "Other sex-chromosome variations unless explicitly related through a documented classification" ], "distinguishing_features": [ "Identify the characteristic extra X chromosome in a Y-containing chromosome complement, commonly 47,XXY, including 46,XY/47,XXY mosaicism; distinguish this from 47,XYY. [MedlinePlus Genetics](https://medlineplus.gov/genetics/condition/klinefelter-syndrome/)", "Require chromosome evidence for confirmation rather than treating small testes, low testosterone, tall stature or infertility as individually diagnostic. [MedlinePlus Medical Encyclopedia](https://www.medlineplus.gov/ency/article/000382.htm)", "Separate prenatal screening suspicion from a confirmed chromosome finding and from assessment of postnatal manifestations.", "Do not infer a uniform phenotype from an XXY result: manifestations vary, and a mosaic result describes the tested sample. [MedlinePlus Genetics](https://medlineplus.gov/genetics/condition/klinefelter-syndrome/)", "Record the classification authority before including higher-order chromosome variations under this label; terminology differs across references. [NICHD overview](https://www.nichd.nih.gov/health/topics/klinefelter/conditioninfo)" ], "characteristics": [ { "name": "Chromosome complement", "kind": "category", "unit_or_values": "Reported cytogenetic notation; 47,XXY; 46,XY/47,XXY; other explicitly reviewed complement; unknown", "why_it_matters": "Anchors recognition and prevents conflation with other chromosome conditions." }, { "name": "Diagnostic assertion status", "kind": "state", "unit_or_values": "Suspected; screening-positive; confirmed; unresolved; excluded, with date and evidence", "why_it_matters": "Prevents screening results and clinical suspicion from becoming confirmed diagnoses." }, { "name": "Observed mosaicism", "kind": "measurement", "unit_or_values": "Cell-line counts and proportions, specimen, method and detection limitations", "why_it_matters": "Makes the scope of the laboratory observation explicit without extrapolating it to every tissue." }, { "name": "Life-course context", "kind": "category", "unit_or_values": "Prenatal; childhood; pubertal development; adulthood; later life, with age", "why_it_matters": "Determines which manifestations and assessments can be meaningfully interpreted." }, { "name": "Gonadal endocrine profile", "kind": "measurement", "unit_or_values": "Testosterone in nmol/L or ng/dL; LH and FSH in IU/L; collection time, reference intervals and treatment context", "why_it_matters": "Supports age-appropriate assessment of gonadal function without defining the condition by hormone values alone." }, { "name": "Reproductive assessment", "kind": "state", "unit_or_values": "Not assessed; assessment deferred; semen findings documented; specialist assessment documented", "why_it_matters": "Prevents assuming an individual's fertility status from the syndrome label." }, { "name": "Developmental and functional profile", "kind": "state", "unit_or_values": "Language, learning, motor and psychosocial findings: assessed result, absent, present or unknown", "why_it_matters": "Connects support to demonstrated needs rather than a presumed level of disability." }, { "name": "Classification mapping", "kind": "relation", "unit_or_values": "ICD-10 jurisdiction and edition, ICD-11 release, or SNOMED CT edition and release, with verified identifier", "why_it_matters": "Preserves versioned coding without substituting a billing or terminology code for diagnostic evidence." } ], "affordances": [ "Check whether chromosome evidence supports the registered condition and flag uncertain classification boundaries.", "Request missing diagnostic provenance or specialist review when screening, phenotype and laboratory evidence disagree.", "Summarise endocrine, reproductive and developmental findings in their age and treatment context.", "Identify assessment and referral needs using a named, dated clinical guideline.", "Track benefits, adverse effects and unmet needs during condition-specific management.", "Explain uncertainty and support informed discussion without predicting an individual's abilities or fertility from karyotype alone." ] }, "sources": [], "structure": { "bundles": [ { "id": "chromosomal-identity", "name": "Chromosomal identity", "description": "Represent the chromosome finding and the boundary of the syndrome label.", "rationale": "Recognition depends on chromosomal evidence, while phenotype and terminology alone can mislead.", "layers": [ { "id": "chromosome-evidence", "name": "Chromosome evidence", "description": "Preserve the original laboratory finding and its limits.", "findings": [ { "id": "reported-complement", "name": "Reported complement", "description": "Record the exact chromosome notation, specimen, test method, laboratory interpretation and observed cell lines.", "questions": [ { "text": "What chromosome complement was reported, by which laboratory, using which specimen and method?", "kind": "provenance", "id": "reported-complement-q01" }, { "text": "If mosaicism was investigated, what cell counts, proportions and detection limitations were reported?", "kind": "measurement", "id": "reported-complement-q02" } ] } ] }, { "id": "etiology-and-boundaries", "name": "Aetiology and boundaries", "description": "Separate general chromosomal mechanism from case-specific evidence and classification.", "findings": [ { "id": "mechanism-and-label", "name": "Mechanism and label", "description": "Distinguish an established chromosome finding from inferred origin, and preserve the authority defining which complements the label includes.", "questions": [ { "text": "What evidence supports the proposed chromosome-segregation mechanism, and what remains unestablished in this case?", "kind": "provenance", "id": "mechanism-and-label-q01" }, { "text": "Does the adopted classification include this complement within Klinefelter's syndrome or identify a neighbouring condition?", "kind": "boundary", "id": "mechanism-and-label-q02" } ] } ] } ] }, { "id": "diagnosis-and-ascertainment", "name": "Diagnosis and ascertainment", "description": "Track how suspicion becomes a supported diagnostic assertion.", "rationale": "Prenatal screening, clinical presentation, confirmed diagnosis and administrative coding carry different evidential weight.", "layers": [ { "id": "diagnostic-pathway", "name": "Diagnostic pathway", "description": "Describe the trigger for investigation and resulting certainty.", "findings": [ { "id": "confirmation-status", "name": "Confirmation status", "description": "Keep screening results and suggestive manifestations distinct from diagnostic confirmation.", "questions": [ { "text": "Was investigation prompted by prenatal screening, pubertal development, infertility, developmental concerns or an incidental finding?", "kind": "provenance", "id": "confirmation-status-q01" }, { "text": "Which diagnostic evidence supports the current assertion, and what confirmation or interpretation remains outstanding?", "kind": "definition", "id": "confirmation-status-q02" } ] } ] }, { "id": "criteria-and-populations", "name": "Criteria and populations", "description": "Attach authorities and denominators to diagnostic and epidemiological claims.", "findings": [ { "id": "versioned-interpretation", "name": "Versioned interpretation", "description": "Record diagnostic guidance, terminology releases and population ascertainment without inventing codes or prevalence estimates.", "questions": [ { "text": "Which issuing body, document date and terminology release support the diagnostic definition and code mapping?", "kind": "provenance", "id": "versioned-interpretation-q01" }, { "text": "For a frequency estimate, what year, geography, denominator and ascertainment method distinguish chromosome prevalence from diagnosed prevalence?", "kind": "measurement", "id": "versioned-interpretation-q02" } ] } ] } ] }, { "id": "gonadal-function-and-reproduction", "name": "Gonadal function and reproduction", "description": "Represent pubertal development, hormone function and individual reproductive evidence.", "rationale": "Endocrine and fertility concerns require related but distinct assessments.", "layers": [ { "id": "puberty-and-endocrine-state", "name": "Puberty and endocrine state", "description": "Interpret gonadal findings against age, pubertal development and treatment exposure.", "findings": [ { "id": "gonadal-assessment", "name": "Gonadal assessment", "description": "Capture pubertal progression, testicular findings, symptoms and hormone results without presuming identical trajectories.", "questions": [ { "text": "What pubertal stage, testicular measurements and symptoms were observed, and when?", "kind": "measurement", "id": "gonadal-assessment-q01" }, { "text": "How do testosterone, LH and FSH results relate to age-specific reference intervals, sampling time and current hormone treatment?", "kind": "measurement", "id": "gonadal-assessment-q02" } ] } ] }, { "id": "fertility-evidence-and-intentions", "name": "Fertility evidence and intentions", "description": "Separate reproductive wishes, measured function and specialist options.", "findings": [ { "id": "individual-reproductive-status", "name": "Individual reproductive status", "description": "Record fertility evidence and counselling without equating the syndrome with a guaranteed reproductive outcome.", "questions": [ { "text": "What semen or specialist findings establish current reproductive status, and what has not been assessed?", "kind": "measurement", "id": "individual-reproductive-status-q01" }, { "text": "What reproductive wishes and endocrine-treatment plans require coordinated fertility counselling?", "kind": "action", "id": "individual-reproductive-status-q02" } ] } ] } ] }, { "id": "development-and-associated-health", "name": "Development and associated health", "description": "Represent functional variation and assessed health concerns across life.", "rationale": "A chromosome label does not specify an individual's developmental profile or establish an associated disease.", "layers": [ { "id": "learning-and-participation", "name": "Learning and participation", "description": "Capture demonstrated developmental and psychosocial needs.", "findings": [ { "id": "functional-support-profile", "name": "Functional support profile", "description": "Record language, learning, motor and psychosocial assessments alongside strengths and participation goals.", "questions": [ { "text": "Which assessments document strengths or difficulties, and how do these affect education, work or daily life?", "kind": "measurement", "id": "functional-support-profile-q01" }, { "text": "Which speech, educational, psychological or occupational supports match the person's assessed needs and preferences?", "kind": "action", "id": "functional-support-profile-q02" } ] } ] }, { "id": "health-risk-and-disease", "name": "Health risk and disease", "description": "Keep population associations distinct from individual findings.", "findings": [ { "id": "associated-health-assessment", "name": "Associated health assessment", "description": "Organise guideline-based review of bone, metabolic, vascular and breast health while distinguishing risk, investigation and diagnosed disease.", "questions": [ { "text": "Which associated risks warrant assessment under the selected guideline, given age, history and treatment?", "kind": "action", "id": "associated-health-assessment-q01" }, { "text": "Which concerns are documented diagnoses, abnormal findings, population-level risks or unassessed possibilities?", "kind": "boundary", "id": "associated-health-assessment-q02" } ] } ] } ] }, { "id": "management-and-life-course-review", "name": "Management and life-course review", "description": "Connect supported interventions to individual objectives and follow-up.", "rationale": "Management addresses manifestations and needs over time; treatment response must be evaluated separately from chromosomal identity.", "layers": [ { "id": "intervention-decisions", "name": "Intervention decisions", "description": "Document the reason, evidence and consent for condition-specific management.", "findings": [ { "id": "individualised-management", "name": "Individualised management", "description": "Record the indication and intended outcome for hormone treatment, fertility referral or developmental support. [NICHD treatment overview](https://www.nichd.nih.gov/health/topics/klinefelter/conditioninfo/treatments)", "questions": [ { "text": "Which measured finding or expressed need supports the proposed intervention, and which dated guideline supports it?", "kind": "action", "id": "individualised-management-q01" }, { "text": "What benefits, uncertainties, reproductive implications and consent or assent requirements were discussed?", "kind": "provenance", "id": "individualised-management-q02" } ] } ] }, { "id": "longitudinal-review", "name": "Longitudinal review", "description": "Track changing manifestations, intervention outcomes and continuity of care.", "findings": [ { "id": "response-and-transition", "name": "Response and transition", "description": "Preserve baseline findings, follow-up outcomes and responsibility for review across paediatric and adult services.", "questions": [ { "text": "What changes in symptoms, laboratory results, function or adverse effects occurred relative to baseline?", "kind": "measurement", "id": "response-and-transition-q01" }, { "text": "Who owns the next review, and which unresolved endocrine, fertility or support needs must transfer between services?", "kind": "action", "id": "response-and-transition-q02" } ] } ] } ] }, { "id": "evidence-and-external-alignment", "name": "Evidence and external alignment", "description": "What the world already says about this thing, gathered so the model can be checked against it.", "rationale": "A model that cannot be lined up against existing standards, identifiers and practice cannot be adopted by anyone who already uses them.", "layers": [ { "id": "reported-evidence", "name": "Reported evidence", "description": "Findings from the breadth pass, kept separate from the structural claims.", "findings": [ { "id": "evidence-confidence-notes", "name": "Check these first", "description": "Recalled without web access and unsourced; every item is a lead to verify.", "evidence": [ "This is recalled knowledge, not a researched or source-verified account.", "Check current guideline editions, ICD revisions and terminology boundaries before publication, especially for higher sex chromosome aneuploidies.", "Prevalence and hormone reference ranges are omitted because they require population, age, assay and ascertainment context; the condition is distinct from its diagnosis or an episode of care." ], "questions": [ { "id": "evidence-confidence-notes-q01", "text": "Which of these check these first hold for the sense of Klinefelter's syndrome this model covers, and on what evidence?", "kind": "provenance" } ] }, { "id": "evidence-kinds", "name": "Kinds and varieties", "description": "Recalled without web access and unsourced; every item is a lead to verify.", "evidence": [ "Non-mosaic 47,XXY Klinefelter syndrome", "Mosaic Klinefelter syndrome, commonly 46,XY/47,XXY" ], "questions": [ { "id": "evidence-kinds-q01", "text": "Which of these kinds and varieties hold for the sense of Klinefelter's syndrome this model covers, and on what evidence?", "kind": "provenance" } ] }, { "id": "evidence-identifiers", "name": "Identifiers and schemes", "description": "Recalled without web access and unsourced; every item is a lead to verify.", "evidence": [ { "scheme": "ISCN cytogenetic nomenclature", "value_or_pattern": "47,XXY", "note": "The usual non-mosaic karyotype; mosaic results specify each cell line and the number of cells examined." }, { "scheme": "WHO ICD-10", "value_or_pattern": "Q98.0", "note": "Klinefelter syndrome with karyotype 47,XXY; other cytogenetic configurations require checking the applicable category and national revision." } ], "questions": [ { "id": "evidence-identifiers-q01", "text": "Which of these identifiers and schemes hold for the sense of Klinefelter's syndrome this model covers, and on what evidence?", "kind": "provenance" } ] }, { "id": "evidence-standards-and-regulation", "name": "Standards and regulation", "description": "Recalled without web access and unsourced; every item is a lead to verify.", "evidence": [ "World Health Organization ICD-10 classifies the condition for diagnostic coding; classification codes do not themselves establish the diagnosis.", "European Academy of Andrology clinical guidelines address diagnosis and management of Klinefelter syndrome." ], "questions": [ { "id": "evidence-standards-and-regulation-q01", "text": "Which of these standards and regulation hold for the sense of Klinefelter's syndrome this model covers, and on what evidence?", "kind": "provenance" } ] }, { "id": "evidence-real-world-use", "name": "Real-world use", "description": "Recalled without web access and unsourced; every item is a lead to verify.", "evidence": [ "Cytogenetic investigation of suspected sex chromosome variation, including during infertility assessment.", "Assessment and management of testicular hormone deficiency.", "Fertility counselling and evaluation for assisted reproduction.", "Individual assessment of speech, language, learning and psychosocial support needs.", "Monitoring of bone health and metabolic risk." ], "questions": [ { "id": "evidence-real-world-use-q01", "text": "Which of these real-world use hold for the sense of Klinefelter's syndrome this model covers, and on what evidence?", "kind": "provenance" } ] }, { "id": "evidence-measurements", "name": "Typical measurements", "description": "Recalled without web access and unsourced; every item is a lead to verify.", "evidence": [ { "quantity": "Chromosome count in the usual non-mosaic karyotype", "typical_range": "47, including two X chromosomes and one Y chromosome", "unit": "chromosomes per nucleated somatic cell" } ], "questions": [ { "id": "evidence-measurements-q01", "text": "Which of these typical measurements hold for the sense of Klinefelter's syndrome this model covers, and on what evidence?", "kind": "provenance" } ] }, { "id": "evidence-failure-modes-and-hazards", "name": "Failure modes and hazards", "description": "Recalled without web access and unsourced; every item is a lead to verify.", "evidence": [ "Variable or subtle features can lead to delayed or missed diagnosis.", "Impaired sperm production frequently causes infertility, but infertility is not absolute in every individual.", "Testicular hormone deficiency can contribute to reduced bone density and other health effects.", "Elevated risks include metabolic disorders and venous thromboembolism.", "Assuming a uniform intellectual, behavioural or physical profile can produce inappropriate care and stigma." ], "questions": [ { "id": "evidence-failure-modes-and-hazards-q01", "text": "Which of these failure modes and hazards hold for the sense of Klinefelter's syndrome this model covers, and on what evidence?", "kind": "provenance" } ] }, { "id": "evidence-regional-variation", "name": "Regional variation", "description": "Recalled without web access and unsourced; every item is a lead to verify.", "evidence": [ "National ICD adaptations and coding revisions can differ.", "Access to cytogenetic diagnosis, endocrine care, fertility services and developmental support varies between health systems." ], "questions": [ { "id": "evidence-regional-variation-q01", "text": "Which of these regional variation hold for the sense of Klinefelter's syndrome this model covers, and on what evidence?", "kind": "provenance" } ] }, { "id": "evidence-neighbours", "name": "Neighbouring kinds and how to tell them apart", "description": "Recalled without web access and unsourced; every item is a lead to verify.", "evidence": [ { "name": "47,XYY syndrome", "difference": "The additional sex chromosome is Y rather than X." }, { "name": "46,XX testicular difference of sex development", "difference": "Testicular development occurs with a 46,XX karyotype rather than the usual 47,XXY configuration." }, { "name": "48,XXYY and 48,XXXY syndromes", "difference": "These have additional sex chromosome copies and distinguishable clinical profiles; they should not automatically be treated as interchangeable Klinefelter variants." }, { "name": "Male hypogonadism", "difference": "This is a broader functional diagnosis with multiple causes; it does not establish an XXY chromosome constitution." } ], "questions": [ { "id": "evidence-neighbours-q01", "text": "Which of these neighbouring kinds and how to tell them apart hold for the sense of Klinefelter's syndrome this model covers, and on what evidence?", "kind": "provenance" } ] } ] } ] } ] }, "openQuestions": [ "Does an existing Vercy world model already own this concept, requiring a registry link instead of a separate publication?", "Which classification authority should govern whether higher-order or unusual mosaic chromosome complements belong here or in neighbouring models?", "What are the verified ICD-10 jurisdiction-specific, ICD-11 and SNOMED CT mappings and release dates for the adopted scope?", "Which current specialist guidelines should govern age-specific endocrine assessment, fertility counselling and surveillance intervals?", "Which population studies provide defensible birth-prevalence and diagnosed-prevalence estimates, with explicit denominators, years and ascertainment limitations?" ], "statistics": { "bundles": 6, "layers": 11, "findings": 19, "questions": 29 } }, "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 Klinefelter's syndrome, record what state it is in, and decide what may be done with it.", "whatItIs": "Enable an agent to recognise Klinefelter's syndrome, distinguish diagnostic evidence from variable manifestations, and identify appropriate assessment and support needs.", "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: XXYYY syndrome, mosaic Klinefelter syndrome.", "2 finer distinctions are held as aliases rather than separate entries, because telling them apart needs a task that asks for it.", "Described in 59 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 Klinefelter's 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": [ "XXYYY syndrome", "mosaic Klinefelter syndrome" ] } ], "standing": "Described in 59 Wikipedia languages, which measures how widely it is written about rather than how important or how common it is. 2 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 Klinefelter's syndrome from another, and a Klinefelter's 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 Klinefelter's 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 Klinefelter's 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 Klinefelter's 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 Klinefelter's 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 Klinefelter's 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 Klinefelter's 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 Klinefelter's 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 Klinefelter's 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 Klinefelter's 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 Klinefelter's 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 Klinefelter's syndrome from the things most often confused with it.", "questions": [ { "id": "distinguishing-features-q01", "text": "What identifies and describes what distinguishes a Klinefelter's 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 Klinefelter's 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 Klinefelter's 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 Klinefelter's 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 Klinefelter's syndrome between them.", "questions": [ { "id": "stages-and-transitions-q01", "text": "What identifies and describes the lifecycle of a Klinefelter's 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 Klinefelter's 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 Klinefelter's 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 Klinefelter's syndrome, how often and by whom.", "findings": [ { "id": "observation-record", "name": "Observation record", "description": "How an observation of a Klinefelter's 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 Klinefelter's 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 Klinefelter's 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 Klinefelter's 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 Klinefelter's 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 Klinefelter's 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 Klinefelter's 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 Klinefelter's 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 Klinefelter's 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 Klinefelter's 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 Klinefelter's 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 Klinefelter's syndrome and how confident it is.", "questions": [ { "id": "claim-provenance-q01", "text": "What identifies and describes a claim about a Klinefelter's 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 Klinefelter's 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 Klinefelter's 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 Klinefelter's syndrome is retired without being erased.", "questions": [ { "id": "validity-and-supersession-q01", "text": "What identifies and describes the validity of a claim about a Klinefelter's 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 Klinefelter's 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 Klinefelter's 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 } } } }