{"schema":"https://ver.cy/schemas/card/1.0.0","id":"vr.tr.amelia","code":"thing-q23900578","url":"https://ver.cy/models/thing/q23900578/","name":"amelia","alternateNames":["acheiria","abrachia","acheiropody","autosomal recessive amelia","amelia of lower limb","apodia","acheiria, unilateral","acheiria, bilateral","amelia of upper limb, unilateral","amelia of upper limb, bilateral","Apodia, unilateral","apodia, bilateral"],"kind":"thing","status":"published","version":"0.2.0-wave.4","language":"en","classifiers":{"family":"Thing Registry","category":"Activities and processes","entryKind":"thing","plane":"ACT","domain":["ACT.PRC"],"industry":[],"navPath":"","tags":[],"facets":{}},"whatItIs":"A rare congenital condition in which one or more limbs are completely absent, part of the spectrum of limb reduction defects, including tetra-amelia with all four limbs absent, sometimes autosomal recessive and linked to genes such as WNT3, amelia of the lower limb, and related absences of distal parts such as acheiria, absence of the hands, apodia, absence of the feet, abrachia, absence of the arms, and acheiropody, an inherited absence of hands and feet described in Brazil; causes include genetic factors and historically teratogens such as thalidomide. The model uses respectful, person-centred language.","purpose":"Let an agent explain amelia and related limb absences in general terms, relay causes, diagnosis and support from medical genetics and disability sources, point families to genetic counselling, rehabilitation and peer support, and distinguish amelia from phocomelia, meromelia, amputation and amniotic band sequence.","scope":{"in":[],"out":[],"boundaries":[]},"distinguishingFeatures":["Complete limb absence","Congenital","Genetic or environmental causes","Very rare"],"structure":{"bundles":[{"id":"understand","name":"Understand","description":"What amelia is.","layers":[{"id":"definition","name":"Definition","description":"Definition.","findings":[{"id":"definition-finding","name":"Definition","description":"Definition.","questions":[{"text":"What is amelia, and how does it differ from phocomelia, meromelia, amputation and amniotic band sequence?","kind":"definition"},{"text":"Is the question from a family after a prenatal finding, in which case genetic counselling and specialist teams can help?","kind":"boundary"}]}]},{"id":"forms","name":"Forms","description":"Named forms.","findings":[{"id":"forms-finding","name":"Forms","description":"Forms.","questions":[{"text":"What are acheiria, abrachia, acheiropody, apodia, lower-limb amelia and autosomal recessive amelia?","kind":"definition"},{"text":"Which entry fits the specific form?","kind":"action"}]}]}]},{"id":"medical","name":"Medical","description":"Causes and diagnosis.","layers":[{"id":"causes","name":"Causes","description":"Causes.","findings":[{"id":"causes-finding","name":"Causes","description":"Causes.","questions":[{"text":"What genetic and environmental causes are described?","kind":"provenance"},{"text":"Which references are standard?","kind":"provenance"}]}]},{"id":"diagnosis","name":"Diagnosis","description":"Diagnosis.","findings":[{"id":"diagnosis-finding","name":"Diagnosis","description":"Diagnosis.","questions":[{"text":"How are limb reduction defects detected and assessed?","kind":"provenance"},{"text":"Which sources are cited?","kind":"provenance"}]}]}]},{"id":"living","name":"Living","description":"Living with limb difference.","layers":[{"id":"rehab","name":"Rehabilitation","description":"Rehabilitation.","findings":[{"id":"rehab-finding","name":"Rehabilitation","description":"Rehabilitation.","questions":[{"text":"What occupational therapy, adaptive tools and prosthetics options exist?","kind":"provenance"},{"text":"Which entry fits prosthesis?","kind":"action"}]}]},{"id":"community","name":"Community","description":"Peer support.","findings":[{"id":"community-finding","name":"Community","description":"Community.","questions":[{"text":"Which organisations support people with limb differences, and what do disabled people say about their lives?","kind":"provenance"},{"text":"Which entry fits limb difference?","kind":"action"}]}]}]},{"id":"context","name":"Context","description":"History.","layers":[{"id":"thalidomide","name":"Thalidomide","description":"Thalidomide.","findings":[{"id":"thalidomide-finding","name":"Thalidomide","description":"Thalidomide.","questions":[{"text":"How did the thalidomide tragedy change drug regulation?","kind":"provenance"},{"text":"Which entry fits thalidomide scandal?","kind":"action"}]}]},{"id":"notable","name":"Notable people","description":"Notable people.","findings":[{"id":"notable-finding","name":"Notable people","description":"Notable people.","questions":[{"text":"Which public figures with limb differences have spoken about their experiences?","kind":"provenance"},{"text":"Which entry fits disability rights movement?","kind":"action"}]}]}]}]},"agentConduct":{"may":["Explain amelia and related limb absences in general terms, relaying causes and support from medical sources.","Use respectful person-first or identity-first language as the person prefers.","Point families to genetic counselling and support organisations."],"mustNot":["Diagnose a fetus or child from images or descriptions.","Use stigmatising language about people with limb differences.","Advise families on pregnancy decisions.","Blame parents for the condition."],"requiresHuman":["Any decision on prenatal testing or pregnancy."]},"ethics":{"considerations":["People with limb differences face stigma and barriers.","Families need honest, non-judgemental information."],"affectedParties":["People with limb differences","Families","Expectant parents"]},"owners":{"steward":"Nobody owns a condition; clinicians and genetic services care for those affected.","roles":[],"masterSystems":["Congenital anomaly registries"]},"relations":[{"target":"Q1269288","type":"parent","note":"registry parent class"},{"target":"Q1323724","type":"parent","note":"registry parent class"},{"target":"Q55788825","type":"parent","note":"registry parent class"},{"target":"dysmelia","type":"related","note":"in registry terms"},{"target":"phocomelia","type":"related"},{"target":"thalidomide","type":"related","note":"historically"},{"target":"amputation","type":"related"}],"interaction":{"identity":{"applicability":"required","items":["Vercy registry: vr.tr.amelia","Wikidata: Q23900578 (https://www.wikidata.org/wiki/Q23900578)"]},"properties":{"applicability":"not-applicable","items":["tetra-amelia gene: WNT3 gene - autosomal recessive form","thalidomide period: late 1950s to early 1960s note","prenatal detection: ultrasound note"]},"recognition":{"applicability":"optional","items":["Congenital absence of a limb","Acheiria, abrachia, acheiropody, autosomal recessive amelia, amelia of lower limb, apodia","Phocomelia has shortened limbs; meromelia is partial absence; amputation is acquired; amniotic bands constrict limbs","Absence of one or more limbs present from birth."]},"capabilities":{"applicability":"required","items":["explain in general terms","relay causes and support","describe named forms","point to counselling and support"]},"hazards":{"applicability":"required","items":["Stigmatising language","Diagnosing individuals remotely","Neglecting family support needs"]},"interfaces":{"applicability":"required","items":["Birth defect surveillance programmes","Drug safety regulation after thalidomide","Disability rights law"]},"context":{"applicability":"required","items":["Not applicable; a congenital condition.","tetra-amelia","single-limb amelia","distal absences such as acheiria and apodia","acheiropody","syndromic and non-syndromic forms"]}},"sources":[{"title":"Wikidata item Q23900578: amelia","url":"https://www.wikidata.org/wiki/Q23900578","note":"identity and sense of the item"},{"title":"Wikipedia: Amelia (birth defect)","url":"https://en.wikipedia.org/wiki/Amelia_%28birth_defect%29","note":"general description of the item"}],"openQuestions":["Should the named distal absences be separate entries?","How should Orphanet and OMIM be linked?","How should disability-led perspectives be linked?"],"resources":{"spec":"/models/things/publications/thing-q23900578/spec.json"},"provenance":{"origin":"thing registry research (pass 2)","builtFrom":["models/things/publications/thing-q23900578/spec.json"],"providers":["Claude"],"researchStatus":"unreviewed","generatedAt":"2026-09-13T20:00:38Z","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 2026-10-06T19:51:57+00:00: completeness 1.00; sense: Wikidata description; 2 live sources; review by codex: pass","interaction.properties":"Plane ACT: no invented physical properties."},"score":1.0}}