{ "model": { "rank": 7490, "code": "thing-q271759", "model_id": "vr.tr.porphyria", "name": "porphyria", "purpose": "Let an agent explain the porphyrias and their kinds, relay mechanisms, triggers, diagnosis and treatment from haematology and dermatology guidelines in general terms, route people with symptoms or a diagnosis to specialists, and distinguish porphyrias from other causes of abdominal pain, photosensitivity and from popular myths about the conditions.", "family": "Thing Registry", "category": "Cross-cutting context", "status": "research-draft", "kind": "thing", "plane": "XCT", "domain": "XCT.STA", "industry": "", "version": "", "url": "/models/thing/q271759/", "tier": 2, "score": 55, "payload": { "layer": "wikidata", "aliases": [ "hepatic porphyria", "Erythropoietic porphyria", "erythropoietic uroporphyria associated with myeloid malignancy", "chester porphyria", "Harderoporphyria", "acute hepatic porphyria" ], "aliasCount": 6, "merged": 6, "knownIn": 55, "facets": null, "markers": [], "lexicalClass": "", "senseRank": null, "alsoRegisteredAs": "vr.tr.porphyria", "source": { "dataset": "wikidata", "item": "Q271759", "url": "https://www.wikidata.org/wiki/Q271759", "license": "CC0 1.0" } }, "research": { "vercy": "1.0-draft", "publication": { "status": "research-draft", "adjudicationStatus": "unreviewed", "publishableCanonical": false, "generatedAt": "2026-09-13T14:03:52Z", "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-Q271759", "registryId": "vr.tr.porphyria", "name": "porphyria", "version": "0.2.0-wave.4", "entryKind": "thing", "family": "Thing Registry", "domain": [ "XCT.STA" ], "status": "research-draft" }, "canonicalUrl": "https://ver.cy/models/thing/q271759/", "model": { "registry_id": "vr.tr.porphyria", "name": "porphyria", "purpose": "Let an agent explain the porphyrias and their kinds, relay mechanisms, triggers, diagnosis and treatment from haematology and dermatology guidelines in general terms, route people with symptoms or a diagnosis to specialists, and distinguish porphyrias from other causes of abdominal pain, photosensitivity and from popular myths about the conditions.", "definition": "A group of rare inherited or acquired disorders of haem synthesis in which porphyrin precursors accumulate, divided into acute hepatic porphyrias that cause abdominal pain, neurological and psychiatric attacks, and cutaneous porphyrias including erythropoietic forms that cause photosensitivity, with rare variants such as harderoporphyria, Chester porphyria and erythropoietic uroporphyria arising with myeloid malignancy; acute attacks can be life-threatening and need urgent specialist care.", "what_it_is_for": "Not applicable; a disease group.", "affordances": [ "route emergencies first", "explain kinds and mechanisms", "relay diagnosis and treatment", "distinguish related conditions" ], "distinguishing_features": [ "Haem pathway defects", "Acute and cutaneous", "Triggered attacks", "Rare" ], "appearance": "Not a visible object; attacks of pain or skin blistering in sunlight.", "visual_identification": [ "Disorders of haem synthesis", "Acute hepatic porphyrias, erythropoietic porphyrias, harderoporphyria, Chester porphyria, uroporphyria with myeloid malignancy", "Other causes of abdominal pain and photosensitivity differ; vampire myths are folklore" ], "physical_properties": [ { "quantity": "known types", "typical_range": "about 8", "unit": "count", "note": "main" }, { "quantity": "acute intermittent porphyria prevalence", "typical_range": "about 1 in 20000", "unit": "note", "note": "Europe" }, { "quantity": "haem synthesis enzymes", "typical_range": "8", "unit": "count", "note": "" } ], "families_and_kinds": [ "acute hepatic porphyrias including acute intermittent porphyria", "cutaneous hepatic porphyrias such as porphyria cutanea tarda", "erythropoietic porphyrias including erythropoietic protoporphyria", "rare variants such as harderoporphyria and Chester porphyria", "acquired porphyrias with myeloid malignancy" ], "related_models": [ { "relation": "is a kind of", "target": "inherited metabolic disorder", "why": "in registry terms" }, { "relation": "is a kind of", "target": "photodermatosis", "why": "in registry terms, for cutaneous forms" }, { "relation": "is a kind of", "target": "metabolic skin disease", "why": "in registry terms" }, { "relation": "involves", "target": "heme", "why": "synthesis pathway defects" } ], "identifiers": [ { "scheme": "ICD-10", "value_or_pattern": "E80.0-E80.2", "note": "porphyrias" }, { "scheme": "MeSH", "value_or_pattern": "D011164", "note": "Porphyrias" } ], "standards_and_regulation": [ "European Porphyria Network and national guidelines", "Safe drug lists for porphyria", "Orphan drug approvals" ], "failure_modes_and_hazards": [ "Missed acute attacks and unsafe drugs", "Agents giving personal medical advice", "Myths linking porphyria to vampires" ], "in_scope": [], "out_of_scope": [], "characteristics": [] }, "sources": [], "structure": { "bundles": [ { "id": "emergency", "name": "Emergency", "description": "Acute attacks.", "rationale": "Clinical.", "layers": [ { "id": "act", "name": "Act", "description": "Act now.", "findings": [ { "id": "act-finding", "name": "Act", "description": "Act.", "questions": [ { "text": "Does the user describe severe abdominal pain, weakness, confusion or seizures in a known or suspected porphyria, which need emergency care?", "kind": "boundary" }, { "text": "Has the agent directed the user to emergency services or their specialist before anything else?", "kind": "action" } ] } ] }, { "id": "drugs", "name": "Drugs", "description": "Safe drugs.", "findings": [ { "id": "drugs-finding", "name": "Drugs", "description": "Drugs.", "questions": [ { "text": "Why do drug safety lists matter in acute porphyria, and where are they published?", "kind": "provenance" }, { "text": "Which entry fits the porphyria drug safety database?", "kind": "action" } ] } ] } ] }, { "id": "understand", "name": "Understand", "description": "What porphyrias are.", "rationale": "Clinical.", "layers": [ { "id": "definition", "name": "Definition", "description": "Definition and kinds.", "findings": [ { "id": "definition-finding", "name": "Definition", "description": "Definition.", "questions": [ { "text": "What are the porphyrias, and how do acute hepatic, cutaneous and erythropoietic forms and the rare variants differ?", "kind": "definition" }, { "text": "Is the question about the group or a personal case needing a specialist?", "kind": "boundary" } ] } ] }, { "id": "mechanism", "name": "Mechanism", "description": "Mechanism.", "findings": [ { "id": "mechanism-finding", "name": "Mechanism", "description": "Mechanism.", "questions": [ { "text": "How do enzyme defects in haem synthesis cause accumulation of precursors and symptoms?", "kind": "provenance" }, { "text": "Which entry fits the specific type?", "kind": "action" } ] } ] } ] }, { "id": "care", "name": "Care", "description": "Diagnosis and treatment.", "rationale": "Clinical.", "layers": [ { "id": "diagnosis", "name": "Diagnosis", "description": "Diagnosis.", "findings": [ { "id": "diagnosis-finding", "name": "Diagnosis", "description": "Diagnosis.", "questions": [ { "text": "How are porphyrias diagnosed by urine, blood and genetic tests, as guidelines describe?", "kind": "provenance" }, { "text": "Which references are standard?", "kind": "provenance" } ] } ] }, { "id": "treatment", "name": "Treatment", "description": "Treatment.", "findings": [ { "id": "treatment-finding", "name": "Treatment", "description": "Treatment.", "questions": [ { "text": "What treatments exist, from haemin and givosiran to sun protection and afamelanotide, in general terms?", "kind": "provenance" }, { "text": "Which sources are cited?", "kind": "provenance" } ] } ] } ] }, { "id": "context", "name": "Context", "description": "Living and history.", "rationale": "Context.", "layers": [ { "id": "living", "name": "Living", "description": "Living with porphyria.", "findings": [ { "id": "living-finding", "name": "Living", "description": "Living.", "questions": [ { "text": "How do people manage triggers and daily life, and where are patient organisations?", "kind": "action" }, { "text": "Which entry fits porphyria patient organisations?", "kind": "action" } ] } ] }, { "id": "history", "name": "History", "description": "History and myths.", "findings": [ { "id": "history-finding", "name": "History", "description": "History.", "questions": [ { "text": "How were porphyrias discovered, what is claimed about King George III, and why are vampire links dismissed, with positions attributed?", "kind": "provenance" }, { "text": "Which entry fits the history of medicine?", "kind": "action" } ] } ] } ] } ] }, "openQuestions": [ "Should acute intermittent porphyria and erythropoietic protoporphyria be separate primary entries?", "How should guideline sources be linked?", "The registry entry has merged aliases naming rare variants; should they be split off?" ], "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 porphyria, record what state it is in, and decide what may be done with it.", "whatItIs": "Let an agent explain the porphyrias and their kinds, relay mechanisms, triggers, diagnosis and treatment from haematology and dermatology guidelines in general terms, route people with symptoms or a diagnosis to specialists, and distinguish porphyrias from other causes of abdominal pain, photosensitivity and from popular myths about the conditions.", "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: hepatic porphyria, Erythropoietic porphyria, erythropoietic uroporphyria associated with myeloid malignancy, chester porphyria, Harderoporphyria, acute hepatic porphyria.", "6 finer distinctions are held as aliases rather than separate entries, because telling them apart needs a task that asks for it.", "Described in 55 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 porphyria, 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": [ "hepatic porphyria", "Erythropoietic porphyria", "erythropoietic uroporphyria associated with myeloid malignancy", "chester porphyria", "Harderoporphyria", "acute hepatic porphyria" ] } ], "standing": "Described in 55 Wikipedia languages, which measures how widely it is written about rather than how important or how common it is. 6 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 porphyria from another, and a porphyria 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 porphyria, 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 porphyria, 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 porphyria 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 porphyria, 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 porphyria, 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 porphyria 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 porphyria 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 porphyria, 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 porphyria, 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 porphyria 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 porphyria from the things most often confused with it.", "questions": [ { "id": "distinguishing-features-q01", "text": "What identifies and describes what distinguishes a porphyria, 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 porphyria, 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 porphyria 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 porphyria 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 porphyria between them.", "questions": [ { "id": "stages-and-transitions-q01", "text": "What identifies and describes the lifecycle of a porphyria, 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 porphyria, 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 porphyria 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 porphyria, how often and by whom.", "findings": [ { "id": "observation-record", "name": "Observation record", "description": "How an observation of a porphyria 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 porphyria, 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 porphyria, 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 porphyria 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 porphyria 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 porphyria 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 porphyria 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 porphyria 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 porphyria?", "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 porphyria?", "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 porphyria 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 porphyria and how confident it is.", "questions": [ { "id": "claim-provenance-q01", "text": "What identifies and describes a claim about a porphyria, 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 porphyria, 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 porphyria 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 porphyria is retired without being erased.", "questions": [ { "id": "validity-and-supersession-q01", "text": "What identifies and describes the validity of a claim about a porphyria, 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 porphyria, 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 porphyria 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 } } } }