{"schema":"https://ver.cy/schemas/card/1.0.0","id":"vr.tr.osteochondrodysplasia","code":"thing-q3251367","url":"https://ver.cy/models/thing/q3251367/","name":"osteochondrodysplasia","alternateNames":["diaphyseal medullary stenosis-bone malignancy syndrome","microcephalic osteodysplastic primordial dwarfism type II","Metaphyseal dysplasia, Pyle type","chondrodysplasia","spondyloepiphyseal dysplasia","Pseudodiastrophic dysplasia","atelosteogenesis","spondyloepiphyseal dysplasia with congenital joint dislocations","Boomerang dysplasia","otospondylomegaepiphyseal dysplasia","pubic bone dysplasia","megaepiphyseal dwarfism"],"kind":"thing","status":"published","version":"0.2.0-wave.1","language":"en","classifiers":{"family":"Thing Registry","category":"Cross-cutting context","entryKind":"thing","plane":"XCT","domain":["XCT.STA"],"industry":[],"navPath":"","tags":[],"facets":{}},"whatItIs":"A large group of several hundred genetic conditions that affect the growth and development of bone and cartilage, also called skeletal dysplasias, including achondroplasia, spondyloepiphyseal dysplasias and other chondrodysplasias, often resulting in short stature and differences in bone shape.","purpose":"Let an agent give general, sourced, respectful information about skeletal dysplasias, use terms preferred by affected communities, point to specialist care and support organisations, and avoid personal medical advice.","scope":{"in":[],"out":[],"boundaries":[]},"distinguishingFeatures":["Genetic","Affect bone and cartilage","Several hundred types","Lifelong specialist care may be needed"],"structure":{"bundles":[{"id":"information","name":"Information","description":"General facts.","layers":[{"id":"type","name":"Type","description":"Which condition.","findings":[{"id":"type-finding","name":"Type","description":"Condition.","questions":[{"text":"What do genetics and patient organisations say about this condition?","kind":"provenance"},{"text":"How is it diagnosed in general terms?","kind":"definition"}]}]},{"id":"personal","name":"Personal","description":"Personal questions.","findings":[{"id":"personal-finding","name":"Personal","description":"Personal advice limits.","questions":[{"text":"Is the user asking about their own or their child diagnosis, treatment or prognosis?","kind":"boundary"},{"text":"How should the agent refer them to the specialist or genetic team?","kind":"action"}]}]}]},{"id":"care","name":"Care","description":"Services.","layers":[{"id":"clinics","name":"Clinics","description":"Specialist services.","findings":[{"id":"clinics-finding","name":"Clinics","description":"Specialist services.","questions":[{"text":"Which specialist skeletal dysplasia clinics or genetic services serve this region?","kind":"provenance"},{"text":"How are referrals made?","kind":"provenance"}]}]},{"id":"urgent","name":"Urgent","description":"Urgent concerns.","findings":[{"id":"urgent-finding","name":"Urgent","description":"Urgent concerns.","questions":[{"text":"Is there an urgent symptom such as breathing difficulty, severe pain or new weakness?","kind":"boundary"},{"text":"Should emergency help be sought now?","kind":"action"}]}]}]},{"id":"community","name":"Community","description":"Support and language.","layers":[{"id":"support","name":"Support","description":"Organisations.","findings":[{"id":"support-finding","name":"Support","description":"Support organisations.","questions":[{"text":"Which organisations support people with dwarfism or skeletal dysplasias and their families?","kind":"provenance"},{"text":"Which events or peer groups exist?","kind":"provenance"}]}]},{"id":"language","name":"Language","description":"Preferred terms.","findings":[{"id":"language-finding","name":"Language","description":"Preferred terms.","questions":[{"text":"Which terms do affected communities prefer, and which are offensive?","kind":"provenance"},{"text":"Is the language respectful and person-centred?","kind":"boundary"}]}]}]},{"id":"rights","name":"Rights","description":"Inclusion.","layers":[{"id":"access","name":"Access","description":"Adaptations.","findings":[{"id":"access-finding","name":"Access","description":"Adaptations.","questions":[{"text":"Which workplace or school adaptations and disability rights apply?","kind":"provenance"},{"text":"How can adjustments be requested?","kind":"action"}]}]},{"id":"research","name":"Research","description":"Treatments and trials.","findings":[{"id":"research-finding","name":"Research","description":"Research.","questions":[{"text":"Which approved treatments or clinical trials exist, according to regulators and registries?","kind":"provenance"},{"text":"Are there debates within communities about treatments?","kind":"boundary"}]}]}]}]},"agentConduct":{"may":["Explain skeletal dysplasias in general, citing medical and genetic sources.","Help families find specialist clinics and patient organizations."],"mustNot":["Diagnose a skeletal dysplasia or interpret a person's genetic test.","Disclose a person's diagnosis or genetic data without consent.","Use demeaning terms for people of short stature or present them as curiosities.","Present a condition as something that must be cured when people living with it see it otherwise."],"requiresHuman":["Any decision on genetic testing, treatment or prenatal choices."]},"ethics":{"considerations":["People with skeletal dysplasias face stigma and barriers in buildings and work.","Genetic information also reveals facts about relatives who have not consented."],"affectedParties":["People with these conditions","Their families","Clinicians and genetic counsellors"]},"owners":{"steward":"The person owns their health information; their clinical team answers for care.","roles":[],"masterSystems":["Rare disease registries"]},"relations":[{"target":"Q18553737","type":"parent","note":"registry parent class"},{"target":"bone development disease","type":"related","note":"category"},{"target":"achondroplasia","type":"related","note":"example"},{"target":"Nosology of genetic skeletal disorders","type":"related","note":"classification"},{"target":"patient organisations","type":"related","note":"support"}],"interaction":{"identity":{"applicability":"required","items":["Vercy registry: vr.tr.osteochondrodysplasia","Wikidata: Q3251367 (https://www.wikidata.org/wiki/Q3251367)"]},"properties":{"applicability":"not-applicable","items":[]},"recognition":{"applicability":"optional","items":["Skeletal differences present from birth or childhood","Genetic diagnosis","Short stature has many other causes","Differences in stature, limb proportions or bone shape; diagnosed by clinical assessment, imaging and genetic tests."]},"capabilities":{"applicability":"required","items":["find general information about a specific dysplasia","find specialist clinics and genetic services","find support organisations and communities","use respectful language"]},"hazards":{"applicability":"required","items":["Stigmatising or outdated language","Agents giving prognosis or treatment advice","Unsupported claims about treatments"]},"interfaces":{"applicability":"required","items":["International nosology of genetic skeletal disorders","Disability rights law","Medicines regulation for new treatments"]},"context":{"applicability":"required","items":["A group of conditions relevant to genetics, paediatrics and disability inclusion.","achondroplasia and related conditions","spondyloepiphyseal dysplasias","metaphyseal dysplasias","osteogenesis imperfecta group","primordial dwarfism conditions"]}},"sources":[{"title":"Wikidata item Q3251367: osteochondrodysplasia","url":"https://www.wikidata.org/wiki/Q3251367","note":"identity and sense of the item"},{"title":"Wikipedia: Osteochondrodysplasia","url":"https://en.wikipedia.org/wiki/Osteochondrodysplasia","note":"general description of the item"}],"openQuestions":["Should each dysplasia be a separate entry?","How should the nosology be linked?","How should community language preferences be recorded?"],"resources":{"spec":"/models/things/publications/thing-q3251367/spec.json"},"provenance":{"origin":"thing registry research (pass 2)","builtFrom":["models/things/publications/thing-q3251367/spec.json"],"providers":["Claude"],"researchStatus":"unreviewed","generatedAt":"2026-09-11T13:19:14Z","builder":"tools/build_cards.py@1.0.0"},"completeness":{"sections":{"classifiers":"filled","whatItIs":"filled","purpose":"filled","distinguishingFeatures":"filled","structure":"filled","agentConduct":"filled","ethics":"filled","owners":"filled","relations":"filled","interaction.identity":"filled","interaction.properties":"not-applicable","interaction.recognition":"filled","interaction.capabilities":"filled","interaction.hazards":"filled","interaction.interfaces":"filled","interaction.context":"filled","sources":"filled"},"notes":{"_gate":"Published through the thing publication gate 1.0 on 2026-10-06T19:51:58+00:00: completeness 1.00; sense: Wikidata description; 2 live sources; review by codex: pass","interaction.properties":"Plane XCT: no invented physical properties."},"score":1.0}}