{ "model": { "rank": 15177, "code": "thing-q923020", "model_id": "vr.tr.epidermolysis-bullosa", "name": "epidermolysis bullosa", "purpose": "Let an agent explain epidermolysis bullosa and its types respectfully and in general terms from dermatology and patient organisation sources, describe genetics, care and research, and route families to specialist centres and support organisations.", "family": "Thing Registry", "category": "Cross-cutting context", "status": "research-draft", "kind": "thing", "plane": "XCT", "domain": "XCT.STA", "industry": "", "version": "", "url": "/models/thing/q923020/", "tier": 2, "score": 34, "payload": { "layer": "wikidata", "aliases": [ "epidermolysis bullosa acquisita", "epidermolysis bullosa with deficiency of Galactosylhydroxylysyl Glucosyltransferase", "epidermolysis bullosa simplex with nail dystrophy", "pretibial dystrophic epidermolysis bullosa", "dystrophic epidermolysis bullosa pruriginosa", "acral dystrophic epidermolysis bullosa", "centripetalis recessive dystrophic epidermolysis bullosa", "recessive dystrophic epidermolysis bullosa-generalized other", "transient bullous dermolysis of the newborn", "inherited epidermolysis bullosa", "epidermolysis bullosa simplex", "epidermolysis bullosa dystrophica", "recessive dystrophic epidermolysis bullosa", "dominant dystrophic epidermolysis bullosa", "suprabasal epidermolysis bullosa simplex", "basal epidermolysis bullosa simplex", "recessive dystrophic epidermolysis bullosa inversa", "epidermolysis bullosa dystrophica Neurotrophica", "epidermolysis bullosa with congenital localized absence of skin and deformity of nails", "Generalized dominant dystrophic epidermolysis bullosa" ], "aliasCount": 20, "merged": 20, "knownIn": 34, "facets": null, "markers": [], "lexicalClass": "", "senseRank": null, "alsoRegisteredAs": null, "source": { "dataset": "wikidata", "item": "Q923020", "url": "https://www.wikidata.org/wiki/Q923020", "license": "CC0 1.0" } }, "research": { "vercy": "1.0-draft", "publication": { "status": "research-draft", "adjudicationStatus": "unreviewed", "publishableCanonical": false, "generatedAt": "2026-09-13T04:06:09Z", "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": 3, "engine": "claude" }, "metaModel": { "id": "THING-Q923020", "registryId": "vr.tr.epidermolysis-bullosa", "name": "epidermolysis bullosa", "version": "0.2.0-wave.3", "entryKind": "thing", "family": "Thing Registry", "domain": [ "XCT.STA" ], "status": "research-draft" }, "canonicalUrl": "https://ver.cy/models/thing/q923020/", "model": { "registry_id": "vr.tr.epidermolysis-bullosa", "name": "epidermolysis bullosa", "purpose": "Let an agent explain epidermolysis bullosa and its types respectfully and in general terms from dermatology and patient organisation sources, describe genetics, care and research, and route families to specialist centres and support organisations.", "definition": "A group of rare inherited skin disorders in which the skin and mucous membranes blister from minor friction or trauma because of defects in proteins anchoring the skin layers, classified into simplex, junctional, dystrophic and Kindler types with many subtypes such as simplex with nail dystrophy, pretibial, pruriginosa and acral dystrophic forms, and a rare acquired autoimmune form, epidermolysis bullosa acquisita; severity ranges from mild to life-limiting, and care focuses on wound management, nutrition, pain and complications such as skin cancer.", "what_it_is_for": "Not applicable; a group of conditions.", "affordances": [ "explain types and genetics", "relay care", "relay research", "route families" ], "distinguishing_features": [ "Skin fragility", "Genetic anchoring defects", "Wide severity range", "Lifelong wound care" ], "appearance": "Not a visible object; fragile skin with blisters and wounds.", "visual_identification": [ "Inherited skin fragility with blistering", "Simplex, junctional, dystrophic and Kindler EB with subtypes; acquired EB", "Pemphigus and pemphigoid are other blistering diseases; burns are injuries" ], "physical_properties": [ { "quantity": "incidence", "typical_range": "about 1 in 50000", "unit": "births", "note": "estimates vary" }, { "quantity": "main types", "typical_range": "4", "unit": "count", "note": "" }, { "quantity": "genes involved", "typical_range": "over 20", "unit": "count", "note": "" } ], "families_and_kinds": [ "epidermolysis bullosa simplex including forms with nail dystrophy", "junctional epidermolysis bullosa", "dystrophic epidermolysis bullosa including pretibial, pruriginosa and acral forms", "Kindler epidermolysis bullosa", "epidermolysis bullosa acquisita as an autoimmune form", "rare syndromic forms with enzyme deficiencies" ], "related_models": [ { "relation": "is a kind of", "target": "vesiculobullous skin disease", "why": "in registry terms" }, { "relation": "is caused by", "target": "mutation", "why": "in skin anchoring genes such as COL7A1 and KRT5" }, { "relation": "is treated at", "target": "specialist EB centre", "why": "with multidisciplinary care" }, { "relation": "is supported by", "target": "DEBRA", "why": "patient organisations worldwide" } ], "identifiers": [ { "scheme": "ICD-11", "value_or_pattern": "EC30", "note": "epidermolysis bullosa" }, { "scheme": "Orphanet", "value_or_pattern": "ORPHA:79361", "note": "inherited epidermolysis bullosa" }, { "scheme": "MeSH", "value_or_pattern": "D004820", "note": "epidermolysis bullosa" } ], "standards_and_regulation": [ "International consensus classification of EB", "Clinical practice guidelines for wound care and management", "Rare disease and orphan drug frameworks including approved gene therapies" ], "failure_modes_and_hazards": [ "Agents giving personal medical advice", "Disrespectful or sensational presentation", "Missing skin cancer surveillance in severe forms", "Confusing inherited and acquired forms" ], "in_scope": [], "out_of_scope": [], "characteristics": [] }, "sources": [], "structure": { "bundles": [ { "id": "understand", "name": "Understand", "description": "What EB is.", "rationale": "Clinical.", "layers": [ { "id": "definition", "name": "Definition", "description": "Definition and types.", "findings": [ { "id": "definition-finding", "name": "Definition", "description": "Definition.", "questions": [ { "text": "What is epidermolysis bullosa, and how do simplex, junctional, dystrophic and Kindler types differ?", "kind": "definition" }, { "text": "Is the question about inherited EB, the acquired form or another blistering disease?", "kind": "boundary" } ] } ] }, { "id": "genetics", "name": "Genetics", "description": "Genetics.", "findings": [ { "id": "genetics-finding", "name": "Genetics", "description": "Genetics.", "questions": [ { "text": "What genes and proteins are involved, and how is EB inherited?", "kind": "provenance" }, { "text": "Which entry fits the specific gene or subtype?", "kind": "action" } ] } ] } ] }, { "id": "care", "name": "Care", "description": "Care.", "rationale": "Clinical.", "layers": [ { "id": "management", "name": "Management", "description": "Daily care.", "findings": [ { "id": "management-finding", "name": "Management", "description": "Management.", "questions": [ { "text": "How are wounds, nutrition, pain and complications managed, per guidelines?", "kind": "provenance" }, { "text": "Is the user asking about their own or a child care, which needs the specialist team?", "kind": "boundary" } ] } ] }, { "id": "centres", "name": "Centres", "description": "Specialist centres and support.", "findings": [ { "id": "centres-finding", "name": "Centres", "description": "Centres.", "questions": [ { "text": "What specialist centres and organisations such as DEBRA support people with EB?", "kind": "provenance" }, { "text": "Which references are standard?", "kind": "provenance" } ] } ] } ] }, { "id": "research", "name": "Research", "description": "Research and therapy.", "rationale": "Attribution.", "layers": [ { "id": "therapies", "name": "Therapies", "description": "New therapies.", "findings": [ { "id": "therapies-finding", "name": "Therapies", "description": "Therapies.", "questions": [ { "text": "What gene, cell and protein therapies have been approved or are in trials, with findings attributed?", "kind": "provenance" }, { "text": "Which sources are cited?", "kind": "provenance" } ] } ] }, { "id": "acquired", "name": "Acquired", "description": "Acquired EB.", "findings": [ { "id": "acquired-finding", "name": "Acquired", "description": "Acquired.", "questions": [ { "text": "What is epidermolysis bullosa acquisita, and how is it treated?", "kind": "provenance" }, { "text": "Which entry fits epidermolysis bullosa acquisita?", "kind": "action" } ] } ] } ] }, { "id": "context", "name": "Context", "description": "Living and awareness.", "rationale": "Context.", "layers": [ { "id": "living", "name": "Living", "description": "Living with EB.", "findings": [ { "id": "living-finding", "name": "Living", "description": "Living.", "questions": [ { "text": "How do people with EB describe their lives, and what accommodations help?", "kind": "provenance" }, { "text": "Is the presentation respectful and person-centred?", "kind": "boundary" } ] } ] }, { "id": "history", "name": "History", "description": "History.", "findings": [ { "id": "history-finding", "name": "History", "description": "History.", "questions": [ { "text": "How was EB described and classified over time?", "kind": "provenance" }, { "text": "Which entry fits the history of dermatology?", "kind": "action" } ] } ] } ] } ] }, "openQuestions": [ "Should each main type be a separate primary entry?", "How should guidelines and patient organisations be linked?", "The registry entry has merged aliases naming subtypes and a syndromic form; 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 epidermolysis bullosa, record what state it is in, and decide what may be done with it.", "whatItIs": "Let an agent explain epidermolysis bullosa and its types respectfully and in general terms from dermatology and patient organisation sources, describe genetics, care and research, and route families to specialist centres and support organisations.", "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: epidermolysis bullosa acquisita, epidermolysis bullosa with deficiency of Galactosylhydroxylysyl Glucosyltransferase, epidermolysis bullosa simplex with nail dystrophy, pretibial dystrophic epidermolysis bullosa, dystrophic epidermolysis bullosa pruriginosa, acral dystrophic epidermolysis bullosa, centripetalis recessive dystrophic epidermolysis bullosa, recessive dystrophic epidermolysis bullosa-generalized other, transient bullous dermolysis of the newborn, inherited epidermolysis bullosa, epidermolysis bullosa simplex, epidermolysis bullosa dystrophica.", "20 finer distinctions are held as aliases rather than separate entries, because telling them apart needs a task that asks for it.", "Described in 34 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 epidermolysis bullosa, 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": [ "epidermolysis bullosa acquisita", "epidermolysis bullosa with deficiency of Galactosylhydroxylysyl Glucosyltransferase", "epidermolysis bullosa simplex with nail dystrophy", "pretibial dystrophic epidermolysis bullosa", "dystrophic epidermolysis bullosa pruriginosa", "acral dystrophic epidermolysis bullosa", "centripetalis recessive dystrophic epidermolysis bullosa", "recessive dystrophic epidermolysis bullosa-generalized other", "transient bullous dermolysis of the newborn", "inherited epidermolysis bullosa", "epidermolysis bullosa simplex", "epidermolysis bullosa dystrophica" ] } ], "standing": "Described in 34 Wikipedia languages, which measures how widely it is written about rather than how important or how common it is. 20 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 epidermolysis bullosa from another, and a epidermolysis bullosa 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 epidermolysis bullosa, 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 epidermolysis bullosa, 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 epidermolysis bullosa 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 epidermolysis bullosa, 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 epidermolysis bullosa, 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 epidermolysis bullosa 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 epidermolysis bullosa 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 epidermolysis bullosa, 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 epidermolysis bullosa, 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 epidermolysis bullosa 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 epidermolysis bullosa from the things most often confused with it.", "questions": [ { "id": "distinguishing-features-q01", "text": "What identifies and describes what distinguishes a epidermolysis bullosa, 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 epidermolysis bullosa, 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 epidermolysis bullosa 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 epidermolysis bullosa 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 epidermolysis bullosa between them.", "questions": [ { "id": "stages-and-transitions-q01", "text": "What identifies and describes the lifecycle of a epidermolysis bullosa, 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 epidermolysis bullosa, 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 epidermolysis bullosa 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 epidermolysis bullosa, how often and by whom.", "findings": [ { "id": "observation-record", "name": "Observation record", "description": "How an observation of a epidermolysis bullosa 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 epidermolysis bullosa, 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 epidermolysis bullosa, 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 epidermolysis bullosa 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 epidermolysis bullosa 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 epidermolysis bullosa 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 epidermolysis bullosa 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 epidermolysis bullosa 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 epidermolysis bullosa?", "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 epidermolysis bullosa?", "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 epidermolysis bullosa 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 epidermolysis bullosa and how confident it is.", "questions": [ { "id": "claim-provenance-q01", "text": "What identifies and describes a claim about a epidermolysis bullosa, 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 epidermolysis bullosa, 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 epidermolysis bullosa 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 epidermolysis bullosa is retired without being erased.", "questions": [ { "id": "validity-and-supersession-q01", "text": "What identifies and describes the validity of a claim about a epidermolysis bullosa, 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 epidermolysis bullosa, 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 epidermolysis bullosa 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 } } } }