{ "model": { "rank": 4738, "code": "thing-q179630", "model_id": "vr.tr.syndrome", "name": "syndrome", "purpose": "Let an agent handle syndromes as clinical categories with codes, features and causes, give only general information, and direct individual questions to clinicians.", "family": "Thing Registry", "category": "Information and virtual systems", "status": "research-draft", "kind": "thing", "plane": "INF", "domain": "INF.KNW", "industry": "", "version": "", "url": "/models/thing/q179630/", "tier": 2, "score": 73, "payload": { "layer": "wikidata", "aliases": [ "Bloom syndrome", "Schimmelpenning syndrome", "multiple hamartoma syndrome", "focal dermal hypoplasia", "melanoma and neural system tumor syndrome", "adenoma sebaceum", "Carney-Stratakis syndrome", "NAME syndrome", "Carney complex", "CHILD syndrome", "juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome", "Proteus-like syndrome", "N syndrome", "hereditary breast ovarian cancer", "progeroid features-hepatocellular carcinoma predisposition syndrome", "alpha-thalassemia-myelodysplastic syndrome", "Li-Fraumeni syndrome", "Goldenhar syndrome", "Howel–Evans syndrome", "Carney complex-trismus-pseudocamptodactyly syndrome", "BRCA2 hereditary breast and ovarian cancer syndrome", "BRCA1 hereditary breast and ovarian cancer syndrome", "early onset breast ovarian cancer syndrome", "breast-ovarian cancer, familial, susceptibility to, 3", "breast-ovarian cancer, familial, susceptibility to, 4", "Werner syndrome", "Nijmegen breakage syndrome", "Shwachman-Diamond syndrome", "Warsaw breakage syndrome", "Frasier syndrome", "Schinzel–Giedion syndrome", "Schöpf–Schulz–Passarge syndrome", "Denys-Drash syndrome", "Wiskott-Aldrich syndrome", "Li-Fraumeni syndrome 1", "Li-Fraumeni syndrome 2", "desmoid disease, hereditary", "Moeschler-Clarren Syndrome", "Wiskott-Aldrich syndrome, autosomal dominant form", "polyuric-polydipsic syndrome" ], "aliasCount": 889, "merged": 893, "knownIn": 73, "facets": null, "markers": [], "lexicalClass": "", "senseRank": null, "alsoRegisteredAs": "vr.tr.syndrome", "source": { "dataset": "wikidata", "item": "Q179630", "url": "https://www.wikidata.org/wiki/Q179630", "license": "CC0 1.0" } }, "research": { "vercy": "1.0-draft", "publication": { "status": "research-draft", "adjudicationStatus": "unreviewed", "publishableCanonical": false, "generatedAt": "2026-09-11T05:54:40Z", "providers": [ "Claude" ], "breadth": "written by Claude from model knowledge without web access - no source was read, every claim is a lead to verify", "pass": 2, "wave": 1, "engine": "claude" }, "metaModel": { "id": "THING-Q179630", "registryId": "vr.tr.syndrome", "name": "syndrome", "version": "0.2.0-wave.1", "entryKind": "thing", "family": "Thing Registry", "domain": [ "INF.KNW" ], "status": "research-draft" }, "canonicalUrl": "https://ver.cy/models/thing/q179630/", "model": { "registry_id": "vr.tr.syndrome", "name": "syndrome", "purpose": "Let an agent handle syndromes as clinical categories with codes, features and causes, give only general information, and direct individual questions to clinicians.", "definition": "A set of medical signs and symptoms that occur together and characterise a particular condition, sometimes with a known cause (such as a genetic syndrome) and sometimes not.", "what_it_is_for": "Recognising patterns of symptoms to guide diagnosis, care and research.", "affordances": [ "diagnose it, by clinicians", "classify it, with codes", "support affected people and families", "research its causes" ], "distinguishing_features": [ "A pattern of features occurring together", "Cause may be known or unknown", "Many are rare diseases", "Features vary between individuals" ], "appearance": "No single appearance; features vary by syndrome and person.", "visual_identification": [ "Only clinical assessment establishes a syndrome", "Codes in ICD-11 or Orphanet", "Named syndromes such as Bloom syndrome" ], "physical_properties": [], "families_and_kinds": [ "genetic syndromes", "syndromes of unknown cause", "neurocutaneous syndromes", "tumour predisposition syndromes" ], "related_models": [ { "relation": "is a kind of", "target": "disease", "why": "condition" }, { "relation": "is made of", "target": "symptom", "why": "features" }, { "relation": "can be caused by", "target": "mutation", "why": "genetic" }, { "relation": "is classified by", "target": "ICD-11 and Orphanet", "why": "codes" } ], "identifiers": [ { "scheme": "ORPHAcode", "value_or_pattern": "numeric", "note": "rare diseases" }, { "scheme": "OMIM number", "value_or_pattern": "six digits", "note": "genetic conditions" }, { "scheme": "ICD-11 code", "value_or_pattern": "alphanumeric", "note": "WHO" } ], "standards_and_regulation": [ "WHO ICD-11", "EU rare disease policies and European Reference Networks", "Health data protection law" ], "failure_modes_and_hazards": [ "Self-diagnosis from lists of features", "Stigmatising descriptions", "Outdated names" ], "in_scope": [], "out_of_scope": [], "characteristics": [] }, "sources": [], "structure": { "bundles": [ { "id": "classification", "name": "Classification", "description": "Which syndrome.", "rationale": "Codes identify syndromes.", "layers": [ { "id": "codes", "name": "Codes", "description": "ORPHA, OMIM, ICD.", "findings": [ { "id": "codes-finding", "name": "Codes", "description": "Codes.", "questions": [ { "text": "Which codes identify this syndrome?", "kind": "provenance" }, { "text": "Has its name changed?", "kind": "provenance" } ] } ] }, { "id": "cause", "name": "Cause", "description": "Known or unknown.", "findings": [ { "id": "cause-finding", "name": "Cause", "description": "Cause.", "questions": [ { "text": "What is known about its cause?", "kind": "provenance" }, { "text": "Is it inherited?", "kind": "boundary" } ] } ] } ] }, { "id": "features", "name": "Features", "description": "Signs and symptoms.", "rationale": "Features vary.", "layers": [ { "id": "common", "name": "Common features", "description": "Typical signs.", "findings": [ { "id": "common-finding", "name": "Features", "description": "Typical features.", "questions": [ { "text": "What are its typical features?", "kind": "definition" }, { "text": "How variable are they?", "kind": "measurement" } ] } ] }, { "id": "diagnosis", "name": "Diagnosis", "description": "How it is diagnosed.", "findings": [ { "id": "diagnosis-finding", "name": "Diagnosis", "description": "Diagnostic approach.", "questions": [ { "text": "How is it diagnosed?", "kind": "definition" }, { "text": "Who should the person see?", "kind": "action" } ] } ] } ] }, { "id": "care", "name": "Care", "description": "Management and support.", "rationale": "Care is coordinated by specialists.", "layers": [ { "id": "management", "name": "Management", "description": "Guidelines.", "findings": [ { "id": "management-finding", "name": "Management", "description": "Care guidelines.", "questions": [ { "text": "What do care guidelines recommend?", "kind": "provenance" }, { "text": "Which specialist centres exist?", "kind": "provenance" } ] } ] }, { "id": "support", "name": "Support", "description": "Patient groups.", "findings": [ { "id": "support-finding", "name": "Support", "description": "Support organisations.", "questions": [ { "text": "Which patient organisations support people with it?", "kind": "action" }, { "text": "How can families connect?", "kind": "action" } ] } ] } ] }, { "id": "handling", "name": "Handling", "description": "Language and privacy.", "rationale": "Respect and privacy matter.", "layers": [ { "id": "language", "name": "Language", "description": "Respectful terms.", "findings": [ { "id": "language-finding", "name": "Language", "description": "Respectful description.", "questions": [ { "text": "Is the description respectful and person-first?", "kind": "boundary" }, { "text": "Is the name current?", "kind": "provenance" } ] } ] }, { "id": "privacy", "name": "Privacy", "description": "Health data.", "findings": [ { "id": "privacy-finding", "name": "Privacy", "description": "Data rules.", "questions": [ { "text": "Is health information being shared lawfully?", "kind": "boundary" }, { "text": "Could it identify a person?", "kind": "boundary" } ] } ] } ] } ] }, "openQuestions": [ "Should syndromes be instances with Orphanet and OMIM codes?", "How should naming changes be tracked?", "How should agents signpost rare disease support?" ], "statistics": { "bundles": 4, "layers": 8, "findings": 8, "questions": 16 } }, "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 syndrome, record what state it is in, and decide what may be done with it.", "whatItIs": "Let an agent handle syndromes as clinical categories with codes, features and causes, give only general information, and direct individual questions to clinicians.", "characteristics": { "substance": "information", "origin": "conceptual", "agency": "inert" }, "whatYouCanDoWithIt": [ "read and interpreted" ], "distinguishingFeatures": [ "Names folded into this entry, which a task may need to split apart again: Bloom syndrome, Schimmelpenning syndrome, multiple hamartoma syndrome, focal dermal hypoplasia, melanoma and neural system tumor syndrome, adenoma sebaceum, Carney-Stratakis syndrome, NAME syndrome, Carney complex, CHILD syndrome, juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome, Proteus-like syndrome.", "893 finer distinctions are held as aliases rather than separate entries, because telling them apart needs a task that asks for it.", "Described in 73 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 syndrome, and on what evidence are they told apart?" ], "whatItIsMadeOf": "content that has to be carried by something else", "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": [ "read it and act on what it says" ], "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": [ "Bloom syndrome", "Schimmelpenning syndrome", "multiple hamartoma syndrome", "focal dermal hypoplasia", "melanoma and neural system tumor syndrome", "adenoma sebaceum", "Carney-Stratakis syndrome", "NAME syndrome", "Carney complex", "CHILD syndrome", "juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome", "Proteus-like syndrome" ] } ], "standing": "Described in 73 Wikipedia languages, which measures how widely it is written about rather than how important or how common it is. 893 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 syndrome from another, and a 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 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 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 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 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 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 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 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 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 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 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 syndrome from the things most often confused with it.", "questions": [ { "id": "distinguishing-features-q01", "text": "What identifies and describes what distinguishes a 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 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 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 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 syndrome between them.", "questions": [ { "id": "stages-and-transitions-q01", "text": "What identifies and describes the lifecycle of a 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 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 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 syndrome, how often and by whom.", "findings": [ { "id": "observation-record", "name": "Observation record", "description": "How an observation of a 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 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 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 syndrome is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] } ] }, { "id": "content-and-access", "name": "Content, encoding and access", "description": "What a syndrome says, how it is encoded and who may read it.", "rationale": "An informational thing carries content that can be copied, versioned and withheld, none of which its physical carrier explains.", "layers": [ { "id": "content-and-encoding", "name": "Content and encoding", "description": "The content itself, its format and its language.", "findings": [ { "id": "content-and-format", "name": "Content, format and language", "description": "What a syndrome contains and in what form it is held.", "questions": [ { "id": "content-and-format-q01", "text": "What identifies and describes the content of a syndrome, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "content-and-format-q02", "text": "Who or what asserted this about the content of a syndrome, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "content-and-format-q03", "text": "What may an agent decide or do once the content of a syndrome is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] }, { "id": "access-and-rights", "name": "Access, rights and retention", "description": "Who may read, copy or change it, and for how long it is kept.", "findings": [ { "id": "access-rules", "name": "Access rules and retention", "description": "The permissions attached to a syndrome and the period it survives.", "questions": [ { "id": "access-rules-q01", "text": "What identifies and describes access to a syndrome, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "access-rules-q02", "text": "Who or what asserted this about access to a syndrome, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "access-rules-q03", "text": "What may an agent decide or do once access to a 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 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 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 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 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 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 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 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 syndrome and how confident it is.", "questions": [ { "id": "claim-provenance-q01", "text": "What identifies and describes a claim about a 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 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 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 syndrome is retired without being erased.", "questions": [ { "id": "validity-and-supersession-q01", "text": "What identifies and describes the validity of a claim about a 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 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 syndrome is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] } ] } ] }, "statistics": { "bundles": 6, "layers": 12, "findings": 14, "questions": 38 } } } }