{ "model": { "rank": 7082, "code": "thing-q194041", "model_id": "vr.tr.phenylketonuria", "name": "phenylketonuria", "purpose": "Let an agent explain phenylketonuria in general terms, relay cause, newborn screening, dietary management and maternal PKU from metabolic medicine sources, route to specialist care, describe the named forms, and distinguish PKU from other amino acid disorders, general intellectual disability and diet choices unrelated to metabolism, without giving individual medical advice.", "family": "Thing Registry", "category": "Cross-cutting context", "status": "research-draft", "kind": "thing", "plane": "XCT", "domain": "XCT.STA", "industry": "", "version": "", "url": "/models/thing/q194041/", "tier": 2, "score": 57, "payload": { "layer": "wikidata", "aliases": [ "maternal phenylketonuria", "mild phenylketonuria", "classic phenylketonuria" ], "aliasCount": 3, "merged": 3, "knownIn": 57, "facets": null, "markers": [], "lexicalClass": "", "senseRank": null, "alsoRegisteredAs": "vr.tr.phenylketonuria", "source": { "dataset": "wikidata", "item": "Q194041", "url": "https://www.wikidata.org/wiki/Q194041", "license": "CC0 1.0" } }, "research": { "vercy": "1.0-draft", "publication": { "status": "research-draft", "adjudicationStatus": "unreviewed", "publishableCanonical": false, "generatedAt": "2026-09-14T02:27:14Z", "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": 4, "engine": "claude" }, "metaModel": { "id": "THING-Q194041", "registryId": "vr.tr.phenylketonuria", "name": "phenylketonuria", "version": "0.2.0-wave.4", "entryKind": "thing", "family": "Thing Registry", "domain": [ "XCT.STA" ], "status": "research-draft" }, "canonicalUrl": "https://ver.cy/models/thing/q194041/", "model": { "registry_id": "vr.tr.phenylketonuria", "name": "phenylketonuria", "purpose": "Let an agent explain phenylketonuria in general terms, relay cause, newborn screening, dietary management and maternal PKU from metabolic medicine sources, route to specialist care, describe the named forms, and distinguish PKU from other amino acid disorders, general intellectual disability and diet choices unrelated to metabolism, without giving individual medical advice.", "definition": "An inherited metabolic disorder in which a deficiency of the enzyme phenylalanine hydroxylase, or rarely of its cofactor, prevents the body from breaking down the amino acid phenylalanine, so it builds up and can damage the developing brain; forms the registry aliases name include classic and mild phenylketonuria and maternal phenylketonuria, where high levels in pregnancy harm the fetus. Newborn screening detects PKU so a strict low-phenylalanine diet, and sometimes medication, can prevent intellectual disability, and people with PKU need lifelong dietary management and, importantly, must avoid the sweetener aspartame, which contains phenylalanine.", "what_it_is_for": "Not applicable; an inherited metabolic disorder.", "affordances": [ "explain cause and screening", "relay dietary management", "describe named forms", "route to specialist care" ], "distinguishing_features": [ "Phenylalanine build-up", "Detected by newborn screening", "Diet-managed", "Aspartame warning" ], "appearance": "Not visible at birth; detected by newborn screening before symptoms.", "visual_identification": [ "Inherited inability to break down phenylalanine", "Maternal phenylketonuria, mild phenylketonuria, classic phenylketonuria", "Other amino acid disorders affect different pathways; general intellectual disability has many causes; ordinary diet choices are not metabolic disorders" ], "physical_properties": [ { "quantity": "enzyme", "typical_range": "phenylalanine hydroxylase", "unit": "note", "note": "" }, { "quantity": "inheritance", "typical_range": "autosomal recessive", "unit": "note", "note": "" }, { "quantity": "registry parents", "typical_range": "enzymopathy, hyperphenylalaninemia", "unit": "note", "note": "" } ], "families_and_kinds": [ "classic PKU", "mild PKU", "maternal PKU", "cofactor deficiencies" ], "related_models": [ { "relation": "is a kind of", "target": "amino acid metabolism disorder", "why": "in registry terms" }, { "relation": "is detected by", "target": "newborn screening", "why": "" }, { "relation": "is managed by", "target": "low-phenylalanine diet", "why": "" }, { "relation": "is contrasted with", "target": "maple syrup urine disease", "why": "" } ], "identifiers": [], "standards_and_regulation": [ "Newborn screening programmes", "Aspartame labelling with phenylalanine warning", "Metabolic disease guidelines" ], "failure_modes_and_hazards": [ "Brain damage if untreated", "Harm to the fetus in unmanaged maternal PKU", "Aspartame exposure" ], "in_scope": [], "out_of_scope": [], "characteristics": [] }, "sources": [], "structure": { "bundles": [ { "id": "understand", "name": "Understand", "description": "What phenylketonuria is.", "rationale": "Science.", "layers": [ { "id": "definition", "name": "Definition", "description": "Definition.", "findings": [ { "id": "definition-finding", "name": "Definition", "description": "Definition.", "questions": [ { "text": "Does someone have PKU and need dietary or pregnancy management, in which case a metabolic specialist and dietitian should guide care?", "kind": "boundary" }, { "text": "What is phenylketonuria, and how does it differ from other amino acid disorders, general intellectual disability and ordinary diet choices?", "kind": "definition" } ] } ] }, { "id": "forms", "name": "Forms", "description": "Named forms.", "findings": [ { "id": "forms-finding", "name": "Forms", "description": "Forms.", "questions": [ { "text": "What are classic, mild and maternal PKU?", "kind": "definition" }, { "text": "Which entry fits the specific form?", "kind": "action" } ] } ] } ] }, { "id": "cause", "name": "Cause", "description": "Cause.", "rationale": "Science.", "layers": [ { "id": "enzyme", "name": "Enzyme", "description": "Enzyme deficiency.", "findings": [ { "id": "enzyme-finding", "name": "Enzyme", "description": "Enzyme.", "questions": [ { "text": "How does phenylalanine hydroxylase deficiency cause PKU?", "kind": "provenance" }, { "text": "Which references are standard?", "kind": "provenance" } ] } ] }, { "id": "inheritance", "name": "Inheritance", "description": "Inheritance.", "findings": [ { "id": "inheritance-finding", "name": "Inheritance", "description": "Inheritance.", "questions": [ { "text": "How is PKU inherited?", "kind": "provenance" }, { "text": "Which sources are cited?", "kind": "provenance" } ] } ] } ] }, { "id": "management", "name": "Management", "description": "Screening and diet.", "rationale": "Regulation.", "layers": [ { "id": "screening", "name": "Screening", "description": "Newborn screening.", "findings": [ { "id": "screening-finding", "name": "Screening", "description": "Screening.", "questions": [ { "text": "How does newborn screening detect PKU?", "kind": "provenance" }, { "text": "Which entry fits newborn screening?", "kind": "action" } ] } ] }, { "id": "diet", "name": "Diet", "description": "Low-phenylalanine diet.", "findings": [ { "id": "diet-finding", "name": "Diet", "description": "Diet.", "questions": [ { "text": "Why is a lifelong low-phenylalanine diet and aspartame avoidance important?", "kind": "provenance" }, { "text": "Is the information current?", "kind": "boundary" } ] } ] } ] }, { "id": "context", "name": "Context", "description": "Maternal and treatment.", "rationale": "Attribution.", "layers": [ { "id": "maternal", "name": "Maternal", "description": "Maternal PKU.", "findings": [ { "id": "maternal-finding", "name": "Maternal", "description": "Maternal.", "questions": [ { "text": "Why must phenylalanine be controlled before and during pregnancy?", "kind": "provenance" }, { "text": "Is the presentation neutral and attributed?", "kind": "boundary" } ] } ] }, { "id": "treatment", "name": "Treatment", "description": "New treatments.", "findings": [ { "id": "treatment-finding", "name": "Treatment", "description": "Treatment.", "questions": [ { "text": "What treatments beyond diet, such as sapropterin or enzyme therapy, exist, checked against current sources?", "kind": "provenance" }, { "text": "Which entry fits sapropterin?", "kind": "action" } ] } ] } ] } ] }, "openQuestions": [ "Should maternal PKU be a separate entry?", "How should dietary guidance be linked?", "How should newer treatments be kept current?" ], "statistics": { "bundles": 4, "layers": 8, "findings": 8, "questions": 16 } }, "draft": { "generator": "vr.draft.v3", "status": "draft-generated", "researched": false, "archetype": "abstract concept", "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 phenylketonuria, record what state it is in, and decide what may be done with it.", "whatItIs": "Let an agent explain phenylketonuria in general terms, relay cause, newborn screening, dietary management and maternal PKU from metabolic medicine sources, route to specialist care, describe the named forms, and distinguish PKU from other amino acid disorders, general intellectual disability and diet choices unrelated to metabolism, without giving individual 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: maternal phenylketonuria, mild phenylketonuria, classic phenylketonuria.", "3 finer distinctions are held as aliases rather than separate entries, because telling them apart needs a task that asks for it.", "Described in 57 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 phenylketonuria, 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": [ "Nothing to see. What is recognised is an instance of it, and which instances count is exactly what is argued about." ], "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": [ "maternal phenylketonuria", "mild phenylketonuria", "classic phenylketonuria" ] } ], "standing": "Described in 57 Wikipedia languages, which measures how widely it is written about rather than how important or how common it is. 3 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 phenylketonuria from another, and a phenylketonuria 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 phenylketonuria, 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 phenylketonuria, 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 phenylketonuria 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 phenylketonuria, 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 phenylketonuria, 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 phenylketonuria 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 phenylketonuria 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 phenylketonuria, 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 phenylketonuria, 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 phenylketonuria 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 phenylketonuria from the things most often confused with it.", "questions": [ { "id": "distinguishing-features-q01", "text": "What identifies and describes what distinguishes a phenylketonuria, 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 phenylketonuria, 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 phenylketonuria 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 phenylketonuria 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 phenylketonuria between them.", "questions": [ { "id": "stages-and-transitions-q01", "text": "What identifies and describes the lifecycle of a phenylketonuria, 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 phenylketonuria, 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 phenylketonuria 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 phenylketonuria, how often and by whom.", "findings": [ { "id": "observation-record", "name": "Observation record", "description": "How an observation of a phenylketonuria 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 phenylketonuria, 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 phenylketonuria, 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 phenylketonuria is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] } ] }, { "id": "definitions-in-contest", "name": "Definitions and who holds them", "description": "What phenylketonuria is taken to mean, and by whom.", "rationale": "When a field disagrees about a concept, the disagreement is the content. A model that picks one definition silently destroys the information.", "layers": [ { "id": "competing-definitions", "name": "Competing definitions", "description": "The main readings and the traditions behind them.", "findings": [ { "id": "definition-map", "name": "Definitions and their holders", "description": "Each definition with the school or body that holds it.", "questions": [ { "id": "definition-map-q01", "text": "Which definitions of phenylketonuria are in use, and which tradition or body holds each?", "kind": "definition" }, { "id": "definition-map-q02", "text": "What turns on the difference between them in practice?", "kind": "boundary" } ] } ] }, { "id": "operationalisation", "name": "Operationalisation", "description": "How it is measured or applied when it has to be.", "findings": [ { "id": "operational-record", "name": "Measures and proxies", "description": "Instruments and indicators used to stand in for it.", "questions": [ { "id": "operational-record-q01", "text": "How is phenylketonuria operationalised or measured in practice, and by what instrument?", "kind": "measurement" }, { "id": "operational-record-q02", "text": "What does that operationalisation leave out, and when does that matter?", "kind": "boundary" } ] } ] } ] }, { "id": "instances-and-use", "name": "Instances, use and consequence", "description": "What counts as an instance of phenylketonuria and what follows from calling something that.", "rationale": "Applying a concept is an act with consequences, so a model must say what the label licenses and what it does not.", "layers": [ { "id": "instances", "name": "What counts as an instance", "description": "Clear cases, borderline cases and non-cases.", "findings": [ { "id": "instance-tests", "name": "Tests for an instance", "description": "What would settle whether something falls under it.", "questions": [ { "id": "instance-tests-q01", "text": "What would settle whether something is an instance of phenylketonuria?", "kind": "boundary" }, { "id": "instance-tests-q02", "text": "Which borderline cases are argued about, and on what grounds?", "kind": "definition" } ] } ] }, { "id": "consequence", "name": "Consequence of application", "description": "Rights, duties or decisions that follow from the label.", "findings": [ { "id": "consequence-record", "name": "What the label licenses", "description": "What an agent may do once something is classified this way.", "questions": [ { "id": "consequence-record-q01", "text": "What follows practically once something is treated as phenylketonuria?", "kind": "action" }, { "id": "consequence-record-q02", "text": "What must an agent not infer from the label alone?", "kind": "action" } ] } ] } ] }, { "id": "provenance-and-evidence", "name": "Provenance, evidence and time", "description": "Where every claim about a phenylketonuria 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 phenylketonuria and how confident it is.", "questions": [ { "id": "claim-provenance-q01", "text": "What identifies and describes a claim about a phenylketonuria, 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 phenylketonuria, 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 phenylketonuria 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 phenylketonuria is retired without being erased.", "questions": [ { "id": "validity-and-supersession-q01", "text": "What identifies and describes the validity of a claim about a phenylketonuria, 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 phenylketonuria, 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 phenylketonuria 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 } } } }