{ "model": { "rank": 15084, "code": "thing-q1052687", "model_id": "vr.tr.charcot-marie-tooth-disease", "name": "Charcot–Marie–Tooth disease", "purpose": "Let an agent explain Charcot-Marie-Tooth disease and its classification in neutral clinical terms, relay genetics, diagnosis and management in general from neurology and genetics sources, describe support and research, and route people with symptoms or diagnoses to neurologists and genetic counsellors.", "family": "Thing Registry", "category": "Information and virtual systems", "status": "research-draft", "kind": "thing", "plane": "INF", "domain": "INF.KNW", "industry": "", "version": "", "url": "/models/thing/q1052687/", "tier": 2, "score": 34, "payload": { "layer": "wikidata", "aliases": [ "Charcot-Marie-tooth disease type 5", "infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome", "Charcot-Marie-Tooth disease type 1E", "Charcot-Marie-Tooth disease type X", "autosomal recessive axonal hereditary motor and sensory neuropathy", "Charcot-Marie-Tooth disease type 3", "Charcot-Marie-Tooth disease intermediate type", "Charcot-Marie-Tooth disease type 6", "Charcot-Marie-Tooth disease type 7", "Charcot-Marie-Tooth disease type 1", "Charcot-Marie-Tooth disease type 2", "Charcot-Marie-Tooth disease type 4", "polyneuropathy-hand defect syndrome", "Dejerine–Sottas disease", "acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome", "Charcot-Marie-Tooth disease X-linked dominant 6", "Charcot-Marie-Tooth disease X-linked recessive 2", "Charcot-Marie-Tooth disease X-linked dominant 1", "Charcot-Marie-Tooth disease X-linked recessive 5", "Charcot-Marie-Tooth disease X-linked recessive 3", "Charcot-Marie-Tooth disease X-linked recessive 4", "Charcot-Marie-Tooth disease type 2B1", "Charcot-Marie-Tooth disease type 2R", "Charcot-Marie-Tooth disease axonal type 2H", "Charcot-Marie-Tooth disease axonal type 2P", "Charcot-Marie-Tooth disease axonal type 2S", "Charcot-Marie-Tooth disease axonal type 2X", "severe early-onset axonal neuropathy due to NEFL deficiency", "microcephaly-complex motor and sensory axonal neuropathy syndrome", "severe early-onset axonal neuropathy due to MFN2 deficiency", "hereditary motor and sensory neuropathy with acrodystrophy", "Charcot-Marie-Tooth disease type 1G", "Charcot-Marie-Tooth disease type 1D", "Charcot-Marie-Tooth disease type 2DD", "Charcot-Marie-Tooth disease type 2A1", "Charcot-Marie-Tooth disease type 2A2", "Charcot-Marie-Tooth disease type 2J", "Charcot-Marie-Tooth disease type 2I", "Charcot-Marie-Tooth disease type 2B", "Charcot-Marie-Tooth disease, axonal type 2W" ], "aliasCount": 56, "merged": 56, "knownIn": 34, "facets": null, "markers": [], "lexicalClass": "", "senseRank": null, "alsoRegisteredAs": null, "source": { "dataset": "wikidata", "item": "Q1052687", "url": "https://www.wikidata.org/wiki/Q1052687", "license": "CC0 1.0" } }, "research": { "vercy": "1.0-draft", "publication": { "status": "research-draft", "adjudicationStatus": "unreviewed", "publishableCanonical": false, "generatedAt": "2026-09-13T05:57:32Z", "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-Q1052687", "registryId": "vr.tr.charcot-marie-tooth-disease", "name": "Charcot–Marie–Tooth disease", "version": "0.2.0-wave.3", "entryKind": "thing", "family": "Thing Registry", "domain": [ "INF.KNW" ], "status": "research-draft" }, "canonicalUrl": "https://ver.cy/models/thing/q1052687/", "model": { "registry_id": "vr.tr.charcot-marie-tooth-disease", "name": "Charcot–Marie–Tooth disease", "purpose": "Let an agent explain Charcot-Marie-Tooth disease and its classification in neutral clinical terms, relay genetics, diagnosis and management in general from neurology and genetics sources, describe support and research, and route people with symptoms or diagnoses to neurologists and genetic counsellors.", "definition": "A group of inherited disorders of the peripheral nerves, also called hereditary motor and sensory neuropathy, that cause progressive weakness and wasting of the muscles of the feet, legs and hands, foot deformities and sensory loss, classified into demyelinating type 1 including subtypes such as 1E, axonal type 2, the severe early-onset type 3 or Dejerine-Sottas disease, intermediate types, X-linked forms and rare syndromic forms including autosomal recessive axonal neuropathies and neuropathy with optic atrophy; it is caused by mutations in more than 100 genes and managed by supportive care, therapy and orthotics.", "what_it_is_for": "Not applicable; a disease group.", "affordances": [ "explain classification and genetics", "relay diagnosis and management", "describe support and research", "route to specialists" ], "distinguishing_features": [ "Inherited", "Peripheral nerve degeneration", "Distal weakness and sensory loss", "Genetically heterogeneous" ], "appearance": "Not a visible object; foot deformities and muscle wasting in affected people.", "visual_identification": [ "Inherited peripheral neuropathy", "Type 1 including 1E, type 2, type 3, X-linked, autosomal recessive axonal and syndromic forms with optic atrophy", "Acquired neuropathies such as diabetic neuropathy are not inherited; muscular dystrophies affect muscle directly" ], "physical_properties": [ { "quantity": "prevalence", "typical_range": "about 1 in 2500", "unit": "people", "note": "" }, { "quantity": "genes involved", "typical_range": "over 100", "unit": "count", "note": "" }, { "quantity": "most common cause", "typical_range": "PMP22 duplication", "unit": "note", "note": "type 1A" } ], "families_and_kinds": [ "type 1 demyelinating forms including 1A and 1E", "type 2 axonal forms", "type 3 or Dejerine-Sottas disease", "type 4 autosomal recessive forms", "X-linked forms", "intermediate and syndromic forms such as neuropathy with optic atrophy" ], "related_models": [ { "relation": "is a kind of", "target": "hereditary motor and sensory neuropathy", "why": "in registry terms" }, { "relation": "is a kind of", "target": "neuromuscular disease", "why": "in registry terms" }, { "relation": "is a kind of", "target": "monogenic disease", "why": "in registry terms" }, { "relation": "is caused by", "target": "PMP22", "why": "duplication in the commonest form" } ], "identifiers": [ { "scheme": "ICD-11", "value_or_pattern": "8C20.0", "note": "Charcot-Marie-Tooth disease" }, { "scheme": "MeSH", "value_or_pattern": "D002607", "note": "Charcot-Marie-Tooth disease" }, { "scheme": "Orphanet", "value_or_pattern": "ORPHA:166", "note": "Charcot-Marie-Tooth disease" } ], "standards_and_regulation": [ "Clinical guidelines from neurology societies", "Genetic testing and counselling standards", "Rare disease and disability frameworks" ], "failure_modes_and_hazards": [ "Agents giving personal medical or genetic advice", "Misdiagnosis as other neuropathies", "Harm from certain medications in affected people, which clinicians manage" ], "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 progressive foot weakness, high arches, frequent tripping or numbness need assessment by a neurologist?", "kind": "action" }, { "text": "Is the user asking about their own or a family member s symptoms or genetic results, which needs a clinician or genetic counsellor?", "kind": "boundary" } ] } ] }, { "id": "support", "name": "Support", "description": "Support.", "findings": [ { "id": "support-finding", "name": "Support", "description": "Support.", "questions": [ { "text": "What patient organisations and supports exist for people with Charcot-Marie-Tooth disease?", "kind": "provenance" }, { "text": "Which entry fits the specific organisation?", "kind": "action" } ] } ] } ] }, { "id": "understand", "name": "Understand", "description": "The disease.", "rationale": "Clinical.", "layers": [ { "id": "classification", "name": "Classification", "description": "Classification.", "findings": [ { "id": "classification-finding", "name": "Classification", "description": "Classification.", "questions": [ { "text": "How is Charcot-Marie-Tooth disease classified into types 1, 2, 3, 4, X-linked and syndromic forms?", "kind": "definition" }, { "text": "Is the question about the inherited disease or an acquired neuropathy?", "kind": "boundary" } ] } ] }, { "id": "genetics", "name": "Genetics", "description": "Genetics.", "findings": [ { "id": "genetics-finding", "name": "Genetics", "description": "Genetics.", "questions": [ { "text": "Which genes and inheritance patterns cause the disease, in general terms?", "kind": "definition" }, { "text": "Which entry fits the specific type or gene?", "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 the disease diagnosed by examination, nerve conduction studies 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 the disease managed with physiotherapy, orthotics, surgery and medication precautions, in general terms?", "kind": "provenance" }, { "text": "Which sources are cited?", "kind": "provenance" } ] } ] } ] }, { "id": "context", "name": "Context", "description": "Research and history.", "rationale": "Context.", "layers": [ { "id": "research", "name": "Research", "description": "Research.", "findings": [ { "id": "research-finding", "name": "Research", "description": "Research.", "questions": [ { "text": "What research and trials address treatments for Charcot-Marie-Tooth disease, with findings attributed?", "kind": "provenance" }, { "text": "Which entry fits gene therapy for neuropathy?", "kind": "action" } ] } ] }, { "id": "history", "name": "History", "description": "History.", "findings": [ { "id": "history-finding", "name": "History", "description": "History.", "questions": [ { "text": "How did Charcot, Marie and Tooth describe the disease in 1886, and how has classification evolved?", "kind": "provenance" }, { "text": "Which entry fits the history of neurology?", "kind": "action" } ] } ] } ] } ] }, "openQuestions": [ "Should the main types be separate primary entries?", "How should neurology and genetics sources be linked?", "The registry entry has merged aliases naming subtypes and 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 Charcot–Marie–Tooth disease, record what state it is in, and decide what may be done with it.", "whatItIs": "Let an agent explain Charcot-Marie-Tooth disease and its classification in neutral clinical terms, relay genetics, diagnosis and management in general from neurology and genetics sources, describe support and research, and route people with symptoms or diagnoses to neurologists and genetic counsellors.", "characteristics": { "substance": "information", "origin": "conceptual", "agency": "inert" }, "whatYouCanDoWithIt": [ "read and interpreted" ], "distinguishingFeatures": [ "Names folded into this entry, which a task may need to split apart again: Charcot-Marie-tooth disease type 5, infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome, Charcot-Marie-Tooth disease type 1E, Charcot-Marie-Tooth disease type X, autosomal recessive axonal hereditary motor and sensory neuropathy, Charcot-Marie-Tooth disease type 3, Charcot-Marie-Tooth disease intermediate type, Charcot-Marie-Tooth disease type 6, Charcot-Marie-Tooth disease type 7, Charcot-Marie-Tooth disease type 1, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 4.", "56 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 Charcot–Marie–Tooth disease, and on what evidence are they told apart?" ], "whatItIsMadeOf": "content that has to be carried by something else", "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": [ "read it and act on what it says" ], "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": [ "Charcot-Marie-tooth disease type 5", "infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome", "Charcot-Marie-Tooth disease type 1E", "Charcot-Marie-Tooth disease type X", "autosomal recessive axonal hereditary motor and sensory neuropathy", "Charcot-Marie-Tooth disease type 3", "Charcot-Marie-Tooth disease intermediate type", "Charcot-Marie-Tooth disease type 6", "Charcot-Marie-Tooth disease type 7", "Charcot-Marie-Tooth disease type 1", "Charcot-Marie-Tooth disease type 2", "Charcot-Marie-Tooth disease type 4" ] } ], "standing": "Described in 34 Wikipedia languages, which measures how widely it is written about rather than how important or how common it is. 56 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 Charcot–Marie–Tooth disease from another, and a Charcot–Marie–Tooth disease from things that resemble it.", "rationale": "Recognition comes before every other claim. Without stable identity nothing else in the model can be trusted to be about the same thing twice.", "layers": [ { "id": "naming-and-identifiers", "name": "Names and identifiers", "description": "The names this thing goes by and the identifiers that survive translation and time.", "findings": [ { "id": "preferred-name-and-aliases", "name": "Preferred name, aliases and local names", "description": "Which name to use, which names mean the same thing, and which merely sound similar.", "questions": [ { "id": "preferred-name-and-aliases-q01", "text": "What identifies and describes the name of a Charcot–Marie–Tooth disease, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "preferred-name-and-aliases-q02", "text": "Who or what asserted this about the name of a Charcot–Marie–Tooth disease, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "preferred-name-and-aliases-q03", "text": "What may an agent decide or do once the name of a Charcot–Marie–Tooth disease is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] }, { "id": "stable-identifiers", "name": "Stable identifiers and external keys", "description": "Identifiers that keep pointing at this kind of thing across systems and languages.", "questions": [ { "id": "stable-identifiers-q01", "text": "What identifies and describes an identifier for a Charcot–Marie–Tooth disease, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "stable-identifiers-q02", "text": "Who or what asserted this about an identifier for a Charcot–Marie–Tooth disease, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "stable-identifiers-q03", "text": "What may an agent decide or do once an identifier for a Charcot–Marie–Tooth disease is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] }, { "id": "classification-and-granularity", "name": "Classification and granularity", "description": "Where a Charcot–Marie–Tooth disease sits among kinds, and how finely a task needs to cut it.", "findings": [ { "id": "kind-and-parents", "name": "Kind, parents and neighbouring kinds", "description": "The classes this thing belongs to and the ones it is next to.", "questions": [ { "id": "kind-and-parents-q01", "text": "What identifies and describes the kind of a Charcot–Marie–Tooth disease, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "kind-and-parents-q02", "text": "Who or what asserted this about the kind of a Charcot–Marie–Tooth disease, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "kind-and-parents-q03", "text": "What may an agent decide or do once the kind of a Charcot–Marie–Tooth disease is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] }, { "id": "distinguishing-features", "name": "Distinguishing features", "description": "What separates a Charcot–Marie–Tooth disease from the things most often confused with it.", "questions": [ { "id": "distinguishing-features-q01", "text": "What identifies and describes what distinguishes a Charcot–Marie–Tooth disease, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "distinguishing-features-q02", "text": "Who or what asserted this about what distinguishes a Charcot–Marie–Tooth disease, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "distinguishing-features-q03", "text": "What may an agent decide or do once what distinguishes a Charcot–Marie–Tooth disease is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] } ] }, { "id": "state-and-lifecycle", "name": "State and lifecycle", "description": "The states a Charcot–Marie–Tooth disease passes through and the events that move it between them.", "rationale": "Most decisions about a thing depend on what state it is in now, which is a claim with a time on it, not a property.", "layers": [ { "id": "lifecycle-stages", "name": "Lifecycle stages", "description": "From coming into existence to ceasing to be one of these.", "findings": [ { "id": "stages-and-transitions", "name": "Stages and transitions", "description": "The stages worth naming and what moves a Charcot–Marie–Tooth disease between them.", "questions": [ { "id": "stages-and-transitions-q01", "text": "What identifies and describes the lifecycle of a Charcot–Marie–Tooth disease, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "stages-and-transitions-q02", "text": "Who or what asserted this about the lifecycle of a Charcot–Marie–Tooth disease, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "stages-and-transitions-q03", "text": "What may an agent decide or do once the lifecycle of a Charcot–Marie–Tooth disease is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] }, { "id": "observations-and-status", "name": "Observations and current status", "description": "What is observed about a Charcot–Marie–Tooth disease, how often and by whom.", "findings": [ { "id": "observation-record", "name": "Observation record", "description": "How an observation of a Charcot–Marie–Tooth disease is recorded so that it can be superseded rather than overwritten.", "questions": [ { "id": "observation-record-q01", "text": "What identifies and describes an observation of a Charcot–Marie–Tooth disease, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "observation-record-q02", "text": "Who or what asserted this about an observation of a Charcot–Marie–Tooth disease, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "observation-record-q03", "text": "What may an agent decide or do once an observation of a Charcot–Marie–Tooth disease is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] } ] }, { "id": "content-and-access", "name": "Content, encoding and access", "description": "What a Charcot–Marie–Tooth disease says, how it is encoded and who may read it.", "rationale": "An informational thing carries content that can be copied, versioned and withheld, none of which its physical carrier explains.", "layers": [ { "id": "content-and-encoding", "name": "Content and encoding", "description": "The content itself, its format and its language.", "findings": [ { "id": "content-and-format", "name": "Content, format and language", "description": "What a Charcot–Marie–Tooth disease contains and in what form it is held.", "questions": [ { "id": "content-and-format-q01", "text": "What identifies and describes the content of a Charcot–Marie–Tooth disease, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "content-and-format-q02", "text": "Who or what asserted this about the content of a Charcot–Marie–Tooth disease, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "content-and-format-q03", "text": "What may an agent decide or do once the content of a Charcot–Marie–Tooth disease is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] }, { "id": "access-and-rights", "name": "Access, rights and retention", "description": "Who may read, copy or change it, and for how long it is kept.", "findings": [ { "id": "access-rules", "name": "Access rules and retention", "description": "The permissions attached to a Charcot–Marie–Tooth disease and the period it survives.", "questions": [ { "id": "access-rules-q01", "text": "What identifies and describes access to a Charcot–Marie–Tooth disease, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "access-rules-q02", "text": "Who or what asserted this about access to a Charcot–Marie–Tooth disease, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "access-rules-q03", "text": "What may an agent decide or do once access to a Charcot–Marie–Tooth disease is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] } ] }, { "id": "diagnosis-and-criteria", "name": "Diagnosis, criteria and coding", "description": "What makes a case of Charcot–Marie–Tooth disease a case, and under which revision.", "rationale": "Criteria change between revisions, so a diagnosis without its coding revision cannot be compared with a later one.", "layers": [ { "id": "criteria", "name": "Diagnostic criteria", "description": "The criteria in force and who issues them.", "findings": [ { "id": "criteria-record", "name": "Criteria, issuer and revision", "description": "What must be true for a diagnosis, according to whom.", "questions": [ { "id": "criteria-record-q01", "text": "What criteria define Charcot–Marie–Tooth disease, issued by which body, in which revision?", "kind": "definition" }, { "id": "criteria-record-q02", "text": "What changed between revisions that would reclassify existing cases?", "kind": "boundary" } ] } ] }, { "id": "coding", "name": "Coding and terminology", "description": "The codes used to record it and their mapping.", "findings": [ { "id": "coding-record", "name": "Codes and mappings", "description": "Which classification codes apply and how they map.", "questions": [ { "id": "coding-record-q01", "text": "Which classification and terminology codes cover Charcot–Marie–Tooth disease, and how do they map to each other?", "kind": "definition" }, { "id": "coding-record-q02", "text": "What is lost when a case is mapped from one scheme to another?", "kind": "boundary" } ] } ] } ] }, { "id": "course-and-population", "name": "Course, population and care", "description": "How Charcot–Marie–Tooth disease develops, whom it affects, and what is done about it.", "rationale": "The condition, the diagnosis and the episode of care are three different things, and an agent must not merge them.", "layers": [ { "id": "course", "name": "Course and stages", "description": "Onset, progression, remission and outcome.", "findings": [ { "id": "course-record", "name": "Stages and transitions", "description": "The stages recorded and what moves a case between them.", "questions": [ { "id": "course-record-q01", "text": "What course does Charcot–Marie–Tooth disease typically take, and what marks each stage?", "kind": "definition" }, { "id": "course-record-q02", "text": "What separates the condition itself from an episode of care for it?", "kind": "boundary" } ] } ] }, { "id": "population", "name": "Affected populations", "description": "Who is affected, how often, and on what evidence.", "findings": [ { "id": "epidemiology", "name": "Prevalence and its basis", "description": "Rates with their population, period and source.", "questions": [ { "id": "epidemiology-q01", "text": "What prevalence or incidence is reported for Charcot–Marie–Tooth disease, in which population and period?", "kind": "measurement" }, { "id": "epidemiology-q02", "text": "What may an agent not conclude about an individual from a population rate?", "kind": "action" } ] } ] } ] }, { "id": "provenance-and-evidence", "name": "Provenance, evidence and time", "description": "Where every claim about a Charcot–Marie–Tooth disease came from and when it held.", "rationale": "A claim without a source and a time cannot be superseded, only overwritten, and an agent that overwrites loses the ability to explain itself.", "layers": [ { "id": "source-and-authority", "name": "Source and authority", "description": "Who said it, on what evidence, and how strongly.", "findings": [ { "id": "claim-provenance", "name": "Claim provenance and confidence", "description": "The authority behind each claim about a Charcot–Marie–Tooth disease and how confident it is.", "questions": [ { "id": "claim-provenance-q01", "text": "What identifies and describes a claim about a Charcot–Marie–Tooth disease, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "claim-provenance-q02", "text": "Who or what asserted this about a claim about a Charcot–Marie–Tooth disease, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "claim-provenance-q03", "text": "What may an agent decide or do once a claim about a Charcot–Marie–Tooth disease is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] }, { "id": "time-and-versions", "name": "Time, versions and supersession", "description": "When a claim was true, when it was learnt, and what replaced it.", "findings": [ { "id": "validity-and-supersession", "name": "Validity period and supersession", "description": "How an old claim about a Charcot–Marie–Tooth disease is retired without being erased.", "questions": [ { "id": "validity-and-supersession-q01", "text": "What identifies and describes the validity of a claim about a Charcot–Marie–Tooth disease, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "validity-and-supersession-q02", "text": "Who or what asserted this about the validity of a claim about a Charcot–Marie–Tooth disease, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "validity-and-supersession-q03", "text": "What may an agent decide or do once the validity of a claim about a Charcot–Marie–Tooth disease is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] } ] } ] }, "statistics": { "bundles": 6, "layers": 12, "findings": 14, "questions": 38 } } } }