{ "model": { "rank": 8058, "code": "thing-q727096", "model_id": "vr.tr.congenital-disorder", "name": "congenital disorder", "purpose": "Let an agent explain congenital conditions in general terms and point to screening, specialist care and family support, without diagnosis and with respectful, non-stigmatising language.", "family": "Thing Registry", "category": "Cross-cutting context", "status": "research-draft", "kind": "thing", "plane": "XCT", "domain": "XCT.STA", "industry": "", "version": "", "url": "/models/thing/q727096/", "tier": 2, "score": 52, "payload": { "layer": "wikidata", "aliases": [ "choristia", "Congenital leukemia", "Drachtman Weinblatt Sitarz syndrome", "tracheobronchomegaly", "Breastfeeding and HIV", "ethmocephaly", "vertical transmission of chikungunya virus", "congenital amegakaryocytic thrombocytopenia", "capillary malformation", "infectious embryofetopathy", "stenosis of pulmonary artery", "Leydig cell hypoplasia", "congenital intrinsic factor deficiency", "congenital pulmonary artery stenosis", "hypogonadotropic hypogonadism 23 with or without anosmia", "hereditary motor and sensory neuropathy", "pyelectasis", "uterine duplication anomalies", "disorder of sex development of gynecological interest", "congenital cataracts, facial dysmorphism, and neuropathy", "Hereditary motor and sensory neuropathy with proximal dominance", "non-progressive congenital ataxia", "abnormality of organs and soft tissues of pelvis complicating pregnancy, childbirth, or the puerperium", "HIV and pregnancy", "congenital myopathy", "malformation", "vascular malformation", "Vater", "proliferation", "supernumerary body part", "congenital transmission", "urethral stricture", "Intrauterine epidermal necrosis", "fetal alcohol spectrum disorders", "Neurocristopathy", "perinatal disease", "Renal dysplasia", "congenital abnormality", "abdominal wall defect", "Schindler disease" ], "aliasCount": 133, "merged": 133, "knownIn": 52, "facets": null, "markers": [], "lexicalClass": "", "senseRank": null, "alsoRegisteredAs": null, "source": { "dataset": "wikidata", "item": "Q727096", "url": "https://www.wikidata.org/wiki/Q727096", "license": "CC0 1.0" } }, "research": { "vercy": "1.0-draft", "publication": { "status": "research-draft", "adjudicationStatus": "unreviewed", "publishableCanonical": false, "generatedAt": "2026-09-11T11:45:32Z", "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-Q727096", "registryId": "vr.tr.congenital-disorder", "name": "congenital disorder", "version": "0.2.0-wave.1", "entryKind": "thing", "family": "Thing Registry", "domain": [ "XCT.STA" ], "status": "research-draft" }, "canonicalUrl": "https://ver.cy/models/thing/q727096/", "model": { "registry_id": "vr.tr.congenital-disorder", "name": "congenital disorder", "purpose": "Let an agent explain congenital conditions in general terms and point to screening, specialist care and family support, without diagnosis and with respectful, non-stigmatising language.", "definition": "A condition present at birth, whether structural, functional, genetic or caused by prenatal factors, such as congenital heart defects, neural tube defects and chromosomal conditions; some are detected by prenatal or newborn screening.", "what_it_is_for": "A health topic relevant to screening, care and support.", "affordances": [ "explain congenital conditions in general terms", "find screening information", "find specialist care and family support", "use respectful language" ], "distinguishing_features": [ "Present from birth", "Very diverse", "Some detected by screening", "Often lifelong support needs" ], "appearance": "Varies widely; some conditions are visible and many are not.", "visual_identification": [ "Present at birth", "Structural, functional or genetic", "Acquired conditions develop later" ], "physical_properties": [], "families_and_kinds": [ "congenital heart defects", "neural tube defects", "chromosomal conditions", "congenital metabolic disorders", "congenital infections" ], "related_models": [ { "relation": "is a kind of", "target": "disease and health condition", "why": "category" }, { "relation": "is detected by", "target": "prenatal and newborn screening", "why": "screening" }, { "relation": "is treated by", "target": "paediatric specialists", "why": "care" }, { "relation": "is related to", "target": "disability", "why": "framework" } ], "identifiers": [], "standards_and_regulation": [ "National screening programmes", "Rare disease policies", "Disability rights law" ], "failure_modes_and_hazards": [ "Agents diagnosing conditions", "Stigmatising language", "Blaming parents" ], "in_scope": [], "out_of_scope": [], "characteristics": [] }, "sources": [], "structure": { "bundles": [ { "id": "care", "name": "Care", "description": "Clinical care.", "rationale": "Clinicians diagnose.", "layers": [ { "id": "urgent", "name": "Urgent", "description": "Unwell baby.", "findings": [ { "id": "urgent-finding", "name": "Urgent", "description": "Urgent concerns.", "questions": [ { "text": "Is a baby showing urgent signs such as breathing difficulty or blue colour?", "kind": "boundary" }, { "text": "Which emergency number should be called?", "kind": "action" } ] } ] }, { "id": "diagnosis", "name": "Diagnosis", "description": "No self-diagnosis.", "findings": [ { "id": "diagnosis-finding", "name": "Diagnosis", "description": "Diagnosis limit.", "questions": [ { "text": "Is the user asking the agent to diagnose a condition?", "kind": "boundary" }, { "text": "How should they be referred to a paediatric specialist?", "kind": "action" } ] } ] } ] }, { "id": "screening", "name": "Screening", "description": "Prenatal and newborn.", "rationale": "Screening varies.", "layers": [ { "id": "prenatal", "name": "Prenatal", "description": "Pregnancy screening.", "findings": [ { "id": "prenatal-finding", "name": "Prenatal", "description": "Prenatal screening.", "questions": [ { "text": "What prenatal screening is offered, according to health services?", "kind": "provenance" }, { "text": "Who can explain results and options?", "kind": "provenance" } ] } ] }, { "id": "newborn", "name": "Newborn", "description": "Newborn checks.", "findings": [ { "id": "newborn-finding", "name": "Newborn", "description": "Newborn screening.", "questions": [ { "text": "Which conditions do newborn checks cover here?", "kind": "provenance" }, { "text": "How are parents informed?", "kind": "provenance" } ] } ] } ] }, { "id": "support", "name": "Support", "description": "Families.", "rationale": "Families need support.", "layers": [ { "id": "organisations", "name": "Organisations", "description": "Charities.", "findings": [ { "id": "organisations-finding", "name": "Organisations", "description": "Support organisations.", "questions": [ { "text": "Which organisations support families affected by this condition?", "kind": "provenance" }, { "text": "How can they be contacted?", "kind": "action" } ] } ] }, { "id": "rights", "name": "Rights", "description": "Education and benefits.", "findings": [ { "id": "rights-finding", "name": "Rights", "description": "Rights and support.", "questions": [ { "text": "Which educational and financial support is available?", "kind": "provenance" }, { "text": "How can it be accessed?", "kind": "action" } ] } ] } ] }, { "id": "language", "name": "Language", "description": "Respect.", "rationale": "Language matters.", "layers": [ { "id": "respect", "name": "Respect", "description": "Non-stigmatising.", "findings": [ { "id": "respect-finding", "name": "Respect", "description": "Respectful language.", "questions": [ { "text": "Does the language avoid stigma and outdated terms?", "kind": "boundary" }, { "text": "Is it person-first or as the community prefers?", "kind": "provenance" } ] } ] }, { "id": "causes", "name": "Causes", "description": "Evidence.", "findings": [ { "id": "causes-finding", "name": "Causes", "description": "Causes.", "questions": [ { "text": "What does evidence say about causes, without blaming parents?", "kind": "provenance" }, { "text": "Which sources explain it?", "kind": "provenance" } ] } ] } ] } ] }, "openQuestions": [ "Should condition groups be separate entries?", "How should screening be localised?", "How should alias lists be curated?" ], "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 congenital disorder, record what state it is in, and decide what may be done with it.", "whatItIs": "Let an agent explain congenital conditions in general terms and point to screening, specialist care and family support, without diagnosis and with respectful, non-stigmatising language.", "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: choristia, Congenital leukemia, Drachtman Weinblatt Sitarz syndrome, tracheobronchomegaly, Breastfeeding and HIV, ethmocephaly, vertical transmission of chikungunya virus, congenital amegakaryocytic thrombocytopenia, capillary malformation, infectious embryofetopathy, stenosis of pulmonary artery, Leydig cell hypoplasia.", "133 finer distinctions are held as aliases rather than separate entries, because telling them apart needs a task that asks for it.", "Described in 52 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 congenital disorder, 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": [ "choristia", "Congenital leukemia", "Drachtman Weinblatt Sitarz syndrome", "tracheobronchomegaly", "Breastfeeding and HIV", "ethmocephaly", "vertical transmission of chikungunya virus", "congenital amegakaryocytic thrombocytopenia", "capillary malformation", "infectious embryofetopathy", "stenosis of pulmonary artery", "Leydig cell hypoplasia" ] } ], "standing": "Described in 52 Wikipedia languages, which measures how widely it is written about rather than how important or how common it is. 133 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 congenital disorder from another, and a congenital disorder 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 congenital disorder, 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 congenital disorder, 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 congenital disorder 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 congenital disorder, 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 congenital disorder, 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 congenital disorder 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 congenital disorder 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 congenital disorder, 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 congenital disorder, 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 congenital disorder 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 congenital disorder from the things most often confused with it.", "questions": [ { "id": "distinguishing-features-q01", "text": "What identifies and describes what distinguishes a congenital disorder, 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 congenital disorder, 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 congenital disorder 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 congenital disorder 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 congenital disorder between them.", "questions": [ { "id": "stages-and-transitions-q01", "text": "What identifies and describes the lifecycle of a congenital disorder, 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 congenital disorder, 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 congenital disorder 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 congenital disorder, how often and by whom.", "findings": [ { "id": "observation-record", "name": "Observation record", "description": "How an observation of a congenital disorder 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 congenital disorder, 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 congenital disorder, 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 congenital disorder 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 congenital disorder 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 congenital disorder, 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 congenital disorder, 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 congenital disorder 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 congenital disorder 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 congenital disorder, 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 congenital disorder 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 congenital disorder and how confident it is.", "questions": [ { "id": "claim-provenance-q01", "text": "What identifies and describes a claim about a congenital disorder, 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 congenital disorder, 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 congenital disorder 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 congenital disorder is retired without being erased.", "questions": [ { "id": "validity-and-supersession-q01", "text": "What identifies and describes the validity of a claim about a congenital disorder, 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 congenital disorder, 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 congenital disorder 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 } } } }