{ "model": { "rank": 17996, "code": "thing-q2351083", "model_id": "vr.tr.metabolic-disease", "name": "metabolic disease", "purpose": "Let an agent explain metabolic diseases in general terms and point to screening, specialist care and patient organisations, without diagnosis or personal medical advice.", "family": "Thing Registry", "category": "Cross-cutting context", "status": "research-draft", "kind": "thing", "plane": "XCT", "domain": "XCT.STA", "industry": "", "version": "", "url": "/models/thing/q2351083/", "tier": 2, "score": 30, "payload": { "layer": "wikidata", "aliases": [ "metabolic disease with dementia", "plasma protein metabolism disease", "autosomal recessive cerebellar ataxia due to a DNA repair defect", "abortion complicated by metabolic disorder", "Corticosteroid-induced lipodystrophy", "Body fat redistribution syndrome", "Warfarin resistance", "warfarin sensitivity", "HIV-associated lipodystrophy", "hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies", "hemolytic anemia due to an erythrocyte nucleotide metabolism disorder", "Neonatal adrenoleukodystrophy", "Zellweger spectrum disorder", "proteostasis deficiency", "peroxisome biogenesis disorder 2B", "peroxisome biogenesis disorder 4B", "peroxisome biogenesis disorder 5B", "peroxisome biogenesis disorder 6B", "peroxisome biogenesis disorder 7B", "peroxisome biogenesis disorder 8B", "peroxisome biogenesis disorder 11B", "peroxisome biogenesis disorder 14B", "peroxisome biogenesis disorder type 3B", "adult Refsum disease", "infantile Refsum disease", "Pipecolic acidemia", "inherited metabolic disorder", "MBL deficiency", "Ethanolaminosis", "Hyperleucine-Isoleucinemia", "Ketoadipicaciduria", "complement factor B deficiency", "DNA repair-deficiency disorder", "lipodystrophy", "mucinosis", "electrolyte imbalance", "Equine atypical myopathy", "Metabolic disease with mental disability", "acquired metabolic disease", "hyperbilirubinemia" ], "aliasCount": 155, "merged": 155, "knownIn": 30, "facets": null, "markers": [], "lexicalClass": "", "senseRank": null, "alsoRegisteredAs": null, "source": { "dataset": "wikidata", "item": "Q2351083", "url": "https://www.wikidata.org/wiki/Q2351083", "license": "CC0 1.0" } }, "research": { "vercy": "1.0-draft", "publication": { "status": "research-draft", "adjudicationStatus": "unreviewed", "publishableCanonical": false, "generatedAt": "2026-09-11T10:13:10Z", "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-Q2351083", "registryId": "vr.tr.metabolic-disease", "name": "metabolic disease", "version": "0.2.0-wave.1", "entryKind": "thing", "family": "Thing Registry", "domain": [ "XCT.STA" ], "status": "research-draft" }, "canonicalUrl": "https://ver.cy/models/thing/q2351083/", "model": { "registry_id": "vr.tr.metabolic-disease", "name": "metabolic disease", "purpose": "Let an agent explain metabolic diseases in general terms and point to screening, specialist care and patient organisations, without diagnosis or personal medical advice.", "definition": "A disease or disorder that disrupts normal metabolism, the chemical processes by which the body converts food into energy and building blocks, including inherited metabolic disorders such as phenylketonuria and acquired conditions such as type 2 diabetes.", "what_it_is_for": "A broad health category relevant to screening, diet and specialist care.", "affordances": [ "explain categories of metabolic disease", "find newborn screening information", "find specialist metabolic services", "find patient support organisations" ], "distinguishing_features": [ "Disrupts biochemical processes", "Inherited or acquired", "Often managed with diet and medicines", "Some detected by newborn screening" ], "appearance": "Signs vary widely and often need laboratory testing to identify.", "visual_identification": [ "Inherited errors of metabolism", "Acquired metabolic conditions", "Metabolic syndrome is a related cluster of risk factors" ], "physical_properties": [], "families_and_kinds": [ "inborn errors of metabolism", "lysosomal storage disorders", "mitochondrial disorders", "diabetes mellitus", "lipid metabolism disorders" ], "related_models": [ { "relation": "is a kind of", "target": "nutritional and metabolic disease", "why": "category" }, { "relation": "affects", "target": "metabolism", "why": "process" }, { "relation": "is detected by", "target": "newborn screening", "why": "screening" }, { "relation": "is treated by", "target": "metabolic medicine", "why": "specialty" } ], "identifiers": [ { "scheme": "ICD-11", "value_or_pattern": "chapter 05 (endocrine, nutritional or metabolic diseases)", "note": "classification" } ], "standards_and_regulation": [ "National newborn screening programmes", "Orphan drug regulation" ], "failure_modes_and_hazards": [ "Agents diagnosing metabolic disease", "Delaying urgent care for acute decompensation", "Unproven diet claims" ], "in_scope": [], "out_of_scope": [], "characteristics": [] }, "sources": [], "structure": { "bundles": [ { "id": "urgent", "name": "Urgent", "description": "Acute illness.", "rationale": "Emergencies come first.", "layers": [ { "id": "acute", "name": "Acute", "description": "Emergency signs.", "findings": [ { "id": "acute-finding", "name": "Acute", "description": "Acute illness.", "questions": [ { "text": "Is someone with a known metabolic disorder acutely unwell, drowsy or vomiting?", "kind": "boundary" }, { "text": "Should their emergency plan be followed and emergency services called?", "kind": "action" } ] } ] }, { "id": "diagnosis", "name": "Diagnosis", "description": "Clinicians.", "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 clinician?", "kind": "action" } ] } ] } ] }, { "id": "categories", "name": "Categories", "description": "General information.", "rationale": "Categories help orientation.", "layers": [ { "id": "types", "name": "Types", "description": "Kinds.", "findings": [ { "id": "types-finding", "name": "Types", "description": "Types.", "questions": [ { "text": "Which category of metabolic disease is being discussed?", "kind": "definition" }, { "text": "Which reliable sources describe it?", "kind": "provenance" } ] } ] }, { "id": "inheritance", "name": "Inheritance", "description": "Genetics.", "findings": [ { "id": "inheritance-finding", "name": "Inheritance", "description": "Inheritance.", "questions": [ { "text": "Is the condition inherited, and how, in general terms?", "kind": "provenance" }, { "text": "Is genetic counselling available?", "kind": "provenance" } ] } ] } ] }, { "id": "screening", "name": "Screening", "description": "Newborns.", "rationale": "Screening finds some early.", "layers": [ { "id": "newborn", "name": "Newborn", "description": "Programmes.", "findings": [ { "id": "newborn-finding", "name": "Newborn", "description": "Newborn screening.", "questions": [ { "text": "Which conditions does the newborn screening programme here cover?", "kind": "provenance" }, { "text": "How are parents informed of results?", "kind": "provenance" } ] } ] }, { "id": "services", "name": "Services", "description": "Specialists.", "findings": [ { "id": "services-finding", "name": "Services", "description": "Specialist services.", "questions": [ { "text": "Which specialist metabolic centres serve this area?", "kind": "provenance" }, { "text": "How is a referral made?", "kind": "action" } ] } ] } ] }, { "id": "living", "name": "Living", "description": "Support.", "rationale": "Long-term support matters.", "layers": [ { "id": "organisations", "name": "Organisations", "description": "Patient groups.", "findings": [ { "id": "organisations-finding", "name": "Organisations", "description": "Patient organisations.", "questions": [ { "text": "Which patient organisations cover this condition?", "kind": "provenance" }, { "text": "What support do they offer?", "kind": "provenance" } ] } ] }, { "id": "diet", "name": "Diet", "description": "Medical diets.", "findings": [ { "id": "diet-finding", "name": "Diet", "description": "Medical diets.", "questions": [ { "text": "Is a special diet prescribed by the specialist team?", "kind": "provenance" }, { "text": "Are unproven diet claims being made?", "kind": "boundary" } ] } ] } ] } ] }, "openQuestions": [ "Should each disorder be a separate entry?", "How should screening panels 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 metabolic disease, record what state it is in, and decide what may be done with it.", "whatItIs": "Let an agent explain metabolic diseases in general terms and point to screening, specialist care and patient organisations, without diagnosis or personal medical advice.", "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: metabolic disease with dementia, plasma protein metabolism disease, autosomal recessive cerebellar ataxia due to a DNA repair defect, abortion complicated by metabolic disorder, Corticosteroid-induced lipodystrophy, Body fat redistribution syndrome, Warfarin resistance, warfarin sensitivity, HIV-associated lipodystrophy, hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder, Neonatal adrenoleukodystrophy.", "155 finer distinctions are held as aliases rather than separate entries, because telling them apart needs a task that asks for it.", "Described in 30 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 metabolic disease, 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": [ "metabolic disease with dementia", "plasma protein metabolism disease", "autosomal recessive cerebellar ataxia due to a DNA repair defect", "abortion complicated by metabolic disorder", "Corticosteroid-induced lipodystrophy", "Body fat redistribution syndrome", "Warfarin resistance", "warfarin sensitivity", "HIV-associated lipodystrophy", "hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies", "hemolytic anemia due to an erythrocyte nucleotide metabolism disorder", "Neonatal adrenoleukodystrophy" ] } ], "standing": "Described in 30 Wikipedia languages, which measures how widely it is written about rather than how important or how common it is. 155 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 metabolic disease from another, and a metabolic disease 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 metabolic disease, 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 metabolic disease, 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 metabolic disease 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 metabolic disease, 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 metabolic disease, 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 metabolic disease 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 metabolic disease 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 metabolic disease, 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 metabolic disease, 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 metabolic disease 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 metabolic disease from the things most often confused with it.", "questions": [ { "id": "distinguishing-features-q01", "text": "What identifies and describes what distinguishes a metabolic disease, 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 metabolic disease, 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 metabolic disease 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 metabolic disease 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 metabolic disease between them.", "questions": [ { "id": "stages-and-transitions-q01", "text": "What identifies and describes the lifecycle of a metabolic disease, 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 metabolic disease, 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 metabolic disease 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 metabolic disease, how often and by whom.", "findings": [ { "id": "observation-record", "name": "Observation record", "description": "How an observation of a metabolic disease 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 metabolic disease, 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 metabolic disease, 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 metabolic disease 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 metabolic disease 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 metabolic disease, 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 metabolic disease, 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 metabolic disease 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 metabolic disease 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 metabolic disease, 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 metabolic disease 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 metabolic disease and how confident it is.", "questions": [ { "id": "claim-provenance-q01", "text": "What identifies and describes a claim about a metabolic disease, 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 metabolic disease, 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 metabolic disease 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 metabolic disease is retired without being erased.", "questions": [ { "id": "validity-and-supersession-q01", "text": "What identifies and describes the validity of a claim about a metabolic disease, 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 metabolic disease, 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 metabolic disease 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 } } } }