{ "model": { "rank": 14647, "code": "thing-q523893", "model_id": "vr.tr.ichthyosis", "name": "ichthyosis", "purpose": "Let an agent explain ichthyosis and its forms in neutral clinical terms, relay genetics, diagnosis and management in general from dermatology and genetics sources, describe support and research, and route people with symptoms or diagnoses to dermatologists and genetic counsellors.", "family": "Thing Registry", "category": "Cross-cutting context", "status": "research-draft", "kind": "thing", "plane": "XCT", "domain": "XCT.STA", "industry": "", "version": "", "url": "/models/thing/q523893/", "tier": 2, "score": 35, "payload": { "layer": "wikidata", "aliases": [ "Koone Rizzo Elias syndrome", "lamellar ichthyosis", "ichthyosis, lamellar, autosomal dominant", "keratosis pilaris atrophicans", "Ruzicka Goerz Anton syndrome", "inherited ichthyosis", "keratitis–ichthyosis–deafness syndrome", "congenital ichthyosis", "congenital ichthyosiform erythroderma", "ichthyosis vulgaris", "Ichthyosis linearis circumflexa", "Neonatal ichthyosis–sclerosing cholangitis syndrome", "Netherton syndrome", "Hystrix-like ichthyosis–deafness syndrome", "Senter syndrome", "Ichthyosis acquisita" ], "aliasCount": 16, "merged": 16, "knownIn": 35, "facets": null, "markers": [], "lexicalClass": "", "senseRank": null, "alsoRegisteredAs": "vr.tr.ichthyosis", "source": { "dataset": "wikidata", "item": "Q523893", "url": "https://www.wikidata.org/wiki/Q523893", "license": "CC0 1.0" } }, "research": { "vercy": "1.0-draft", "publication": { "status": "research-draft", "adjudicationStatus": "unreviewed", "publishableCanonical": false, "generatedAt": "2026-09-13T06:18:08Z", "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-Q523893", "registryId": "vr.tr.ichthyosis", "name": "ichthyosis", "version": "0.2.0-wave.3", "entryKind": "thing", "family": "Thing Registry", "domain": [ "XCT.STA" ], "status": "research-draft" }, "canonicalUrl": "https://ver.cy/models/thing/q523893/", "model": { "registry_id": "vr.tr.ichthyosis", "name": "ichthyosis", "purpose": "Let an agent explain ichthyosis and its forms in neutral clinical terms, relay genetics, diagnosis and management in general from dermatology and genetics sources, describe support and research, and route people with symptoms or diagnoses to dermatologists and genetic counsellors.", "definition": "A group of skin disorders characterised by dry, thickened, scaling skin resembling fish scales, mostly inherited, from the common and mild ichthyosis vulgaris to rarer forms such as X-linked ichthyosis, lamellar ichthyosis in autosomal recessive and rare autosomal dominant forms, epidermolytic ichthyosis and syndromic forms such as Netherton syndrome, keratosis pilaris atrophicans and rare syndromes named in the registry; acquired ichthyosis can occur with other diseases, and management focuses on emollients, keratolytics and, in severe cases, retinoids.", "what_it_is_for": "Not applicable; a group of conditions.", "affordances": [ "explain forms and genetics", "relay diagnosis and management", "describe support and research", "route to specialists" ], "distinguishing_features": [ "Scaling skin", "Mostly inherited", "Wide severity range", "Barrier dysfunction" ], "appearance": "Not a visible object as a category; dry, scaling skin of varied severity.", "visual_identification": [ "Inherited scaling skin disorders", "Ichthyosis vulgaris, X-linked, lamellar, epidermolytic and syndromic forms; keratosis pilaris atrophicans; rare named syndromes", "Eczema and psoriasis are inflammatory; acquired ichthyosis follows other diseases" ], "physical_properties": [ { "quantity": "ichthyosis vulgaris prevalence", "typical_range": "about 1 in 250", "unit": "people", "note": "" }, { "quantity": "lamellar ichthyosis prevalence", "typical_range": "about 1 in 200000", "unit": "births", "note": "" }, { "quantity": "main gene in vulgaris", "typical_range": "FLG", "unit": "gene", "note": "filaggrin" } ], "families_and_kinds": [ "ichthyosis vulgaris", "X-linked ichthyosis", "autosomal recessive congenital ichthyosis including lamellar ichthyosis and harlequin ichthyosis", "autosomal dominant lamellar ichthyosis", "keratinopathic ichthyoses such as epidermolytic ichthyosis", "syndromic ichthyoses including Netherton, keratosis pilaris atrophicans and rare syndromes such as those named Koone-Rizzo-Elias and Ruzicka-Goerz-Anton", "acquired ichthyosis" ], "related_models": [ { "relation": "is a kind of", "target": "epidermal disease", "why": "in registry terms" }, { "relation": "is caused by", "target": "FLG", "why": "mutations in the common form" }, { "relation": "is treated with", "target": "emollient", "why": "and keratolytics" }, { "relation": "is contrasted with", "target": "psoriasis", "why": "an inflammatory scaling disease" } ], "identifiers": [ { "scheme": "ICD-11", "value_or_pattern": "EC20", "note": "inherited ichthyosis" }, { "scheme": "MeSH", "value_or_pattern": "D007057", "note": "ichthyosis" }, { "scheme": "Orphanet", "value_or_pattern": "ORPHA:79350", "note": "inherited ichthyosis group" } ], "standards_and_regulation": [ "Dermatology guidelines and the 2009 ichthyosis consensus classification", "Genetic testing and counselling standards", "Rare disease frameworks" ], "failure_modes_and_hazards": [ "Agents giving personal medical advice", "Confusing ichthyosis with eczema or psoriasis", "Stigma and social impact" ], "in_scope": [], "out_of_scope": [], "characteristics": [] }, "sources": [], "structure": { "bundles": [ { "id": "help", "name": "Help", "description": "Care first.", "rationale": "Safety.", "layers": [ { "id": "symptoms", "name": "Symptoms", "description": "Symptoms.", "findings": [ { "id": "symptoms-finding", "name": "Symptoms", "description": "Symptoms.", "questions": [ { "text": "Why do persistent scaling skin, infections, overheating or severe scaling in a newborn need assessment by a dermatologist or paediatrician?", "kind": "action" }, { "text": "Is the user asking about their own or a child s skin, which needs a clinician?", "kind": "boundary" } ] } ] }, { "id": "support", "name": "Support", "description": "Support.", "findings": [ { "id": "support-finding", "name": "Support", "description": "Support.", "questions": [ { "text": "What patient organisations and support exist for people with ichthyosis?", "kind": "provenance" }, { "text": "Which entry fits the specific organisation?", "kind": "action" } ] } ] } ] }, { "id": "understand", "name": "Understand", "description": "The conditions.", "rationale": "Clinical.", "layers": [ { "id": "forms", "name": "Forms", "description": "Forms.", "findings": [ { "id": "forms-finding", "name": "Forms", "description": "Forms.", "questions": [ { "text": "What are ichthyosis vulgaris, X-linked, lamellar, epidermolytic and syndromic ichthyoses, and how are they classified?", "kind": "definition" }, { "text": "Is the question about inherited ichthyosis, acquired ichthyosis or another scaling condition?", "kind": "boundary" } ] } ] }, { "id": "genetics", "name": "Genetics", "description": "Genetics.", "findings": [ { "id": "genetics-finding", "name": "Genetics", "description": "Genetics.", "questions": [ { "text": "Which genes and inheritance patterns underlie the forms, in general terms?", "kind": "definition" }, { "text": "Which entry fits the specific form?", "kind": "action" } ] } ] } ] }, { "id": "care", "name": "Care", "description": "Diagnosis and management.", "rationale": "Clinical.", "layers": [ { "id": "diagnosis", "name": "Diagnosis", "description": "Diagnosis.", "findings": [ { "id": "diagnosis-finding", "name": "Diagnosis", "description": "Diagnosis.", "questions": [ { "text": "How is ichthyosis diagnosed by examination, biopsy and genetic testing?", "kind": "provenance" }, { "text": "Which references are standard?", "kind": "provenance" } ] } ] }, { "id": "management", "name": "Management", "description": "Management.", "findings": [ { "id": "management-finding", "name": "Management", "description": "Management.", "questions": [ { "text": "How is ichthyosis managed with emollients, keratolytics, retinoids and care of complications, in general terms?", "kind": "provenance" }, { "text": "Which sources are cited?", "kind": "provenance" } ] } ] } ] }, { "id": "context", "name": "Context", "description": "Living and research.", "rationale": "Context.", "layers": [ { "id": "living", "name": "Living", "description": "Living with ichthyosis.", "findings": [ { "id": "living-finding", "name": "Living", "description": "Living.", "questions": [ { "text": "How do people with ichthyosis describe daily life, and how is stigma addressed?", "kind": "provenance" }, { "text": "Is the presentation respectful?", "kind": "boundary" } ] } ] }, { "id": "research", "name": "Research", "description": "Research.", "findings": [ { "id": "research-finding", "name": "Research", "description": "Research.", "questions": [ { "text": "What research addresses gene therapy and new treatments, with findings attributed?", "kind": "provenance" }, { "text": "Which entry fits skin barrier research?", "kind": "action" } ] } ] } ] } ] }, "openQuestions": [ "Should ichthyosis vulgaris and lamellar ichthyosis be separate primary entries?", "How should dermatology and genetics sources be linked?", "The registry entry has merged aliases naming rare syndromes; 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": "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 ichthyosis, record what state it is in, and decide what may be done with it.", "whatItIs": "Let an agent explain ichthyosis and its forms in neutral clinical terms, relay genetics, diagnosis and management in general from dermatology and genetics sources, describe support and research, and route people with symptoms or diagnoses to dermatologists and genetic counsellors.", "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: Koone Rizzo Elias syndrome, lamellar ichthyosis, ichthyosis, lamellar, autosomal dominant, keratosis pilaris atrophicans, Ruzicka Goerz Anton syndrome, inherited ichthyosis, keratitis–ichthyosis–deafness syndrome, congenital ichthyosis, congenital ichthyosiform erythroderma, ichthyosis vulgaris, Ichthyosis linearis circumflexa, Neonatal ichthyosis–sclerosing cholangitis syndrome.", "16 finer distinctions are held as aliases rather than separate entries, because telling them apart needs a task that asks for it.", "Described in 35 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 ichthyosis, 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": [ "Koone Rizzo Elias syndrome", "lamellar ichthyosis", "ichthyosis, lamellar, autosomal dominant", "keratosis pilaris atrophicans", "Ruzicka Goerz Anton syndrome", "inherited ichthyosis", "keratitis–ichthyosis–deafness syndrome", "congenital ichthyosis", "congenital ichthyosiform erythroderma", "ichthyosis vulgaris", "Ichthyosis linearis circumflexa", "Neonatal ichthyosis–sclerosing cholangitis syndrome" ] } ], "standing": "Described in 35 Wikipedia languages, which measures how widely it is written about rather than how important or how common it is. 16 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 ichthyosis from another, and a ichthyosis 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 ichthyosis, 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 ichthyosis, 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 ichthyosis 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 ichthyosis, 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 ichthyosis, 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 ichthyosis 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 ichthyosis 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 ichthyosis, 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 ichthyosis, 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 ichthyosis 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 ichthyosis from the things most often confused with it.", "questions": [ { "id": "distinguishing-features-q01", "text": "What identifies and describes what distinguishes a ichthyosis, 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 ichthyosis, 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 ichthyosis 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 ichthyosis 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 ichthyosis between them.", "questions": [ { "id": "stages-and-transitions-q01", "text": "What identifies and describes the lifecycle of a ichthyosis, 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 ichthyosis, 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 ichthyosis 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 ichthyosis, how often and by whom.", "findings": [ { "id": "observation-record", "name": "Observation record", "description": "How an observation of a ichthyosis 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 ichthyosis, 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 ichthyosis, 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 ichthyosis 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 ichthyosis 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 ichthyosis, 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 ichthyosis, 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 ichthyosis 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 ichthyosis 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 ichthyosis, 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 ichthyosis 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 ichthyosis and how confident it is.", "questions": [ { "id": "claim-provenance-q01", "text": "What identifies and describes a claim about a ichthyosis, 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 ichthyosis, 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 ichthyosis 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 ichthyosis is retired without being erased.", "questions": [ { "id": "validity-and-supersession-q01", "text": "What identifies and describes the validity of a claim about a ichthyosis, 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 ichthyosis, 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 ichthyosis 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 } } } }