{"schema":"https://ver.cy/schemas/card/1.0.0","id":"vr.tr.agenesis","code":"thing-q392604","url":"https://ver.cy/models/thing/q392604/","name":"agenesis","alternateNames":["Tracheal agenesis","Arrhinia","cervical agenesis","congenital aplasia of the vas deferens","aphallia","Amastia","partial pancreatic agenesis","Acheilia","Aglossia","tooth agenesis","ablepharon","aposthia"],"kind":"thing","status":"published","version":"0.2.0-wave.2","language":"en","classifiers":{"family":"Thing Registry","category":"Activities and processes","entryKind":"thing","plane":"ACT","domain":["ACT.PRC"],"industry":[],"navPath":"","tags":[],"facets":{}},"whatItIs":"The congenital absence of an organ or body part because it failed to develop during embryonic life, such as renal agenesis, tracheal agenesis, absence of the nose, cervical agenesis, absence of the vas deferens or breast tissue, and other conditions, ranging from incompatible with life to asymptomatic; agenesis is a form of aplasia, diagnosed by imaging and examination, and managed by specialists, and this entry provides general information only.","purpose":"Let an agent explain agenesis and its forms in general terms, distinguish it from related developmental terms, describe diagnosis and care as documented by medical sources, and route personal questions to clinicians.","scope":{"in":[],"out":[],"boundaries":[]},"distinguishingFeatures":["Congenital","Complete absence","Developmental origin","Wide range of severity"],"structure":{"bundles":[{"id":"understand","name":"Understand","description":"What agenesis is.","layers":[{"id":"definition","name":"Definition","description":"Definition and terms.","findings":[{"id":"definition-finding","name":"Definition","description":"Definition.","questions":[{"text":"What is agenesis, and how does it differ from aplasia, hypoplasia and atrophy?","kind":"definition"},{"text":"Is the user asking about a personal or family diagnosis, which needs a clinician?","kind":"boundary"}]}]},{"id":"forms","name":"Forms","description":"Forms.","findings":[{"id":"forms-finding","name":"Forms","description":"Forms.","questions":[{"text":"What are common and rare forms of agenesis, and how do they vary in severity, according to medical sources?","kind":"provenance"},{"text":"Which entry fits a specific form?","kind":"action"}]}]}]},{"id":"causes","name":"Causes","description":"Causes and development.","layers":[{"id":"development","name":"Development","description":"Developmental origin.","findings":[{"id":"development-finding","name":"Development","description":"Development.","questions":[{"text":"How does agenesis arise during embryonic development, and which genetic and environmental factors are documented?","kind":"provenance"},{"text":"Which entry fits embryogenesis?","kind":"action"}]}]},{"id":"genetics","name":"Genetics","description":"Genetics.","findings":[{"id":"genetics-finding","name":"Genetics","description":"Genetics.","questions":[{"text":"Which forms of agenesis have known genetic causes, and what does this mean for families, according to genetic counselling sources?","kind":"provenance"},{"text":"Is genetic counselling needed from a professional?","kind":"boundary"}]}]}]},{"id":"care","name":"Care","description":"Diagnosis and care.","layers":[{"id":"diagnosis","name":"Diagnosis","description":"Diagnosis.","findings":[{"id":"diagnosis-finding","name":"Diagnosis","description":"Diagnosis.","questions":[{"text":"How is agenesis diagnosed prenatally and after birth, in general terms?","kind":"provenance"},{"text":"Which specialists are involved?","kind":"provenance"}]}]},{"id":"management","name":"Management","description":"Management and support.","findings":[{"id":"management-finding","name":"Management","description":"Management.","questions":[{"text":"What management options and support resources are documented for people with agenesis?","kind":"provenance"},{"text":"Which entry fits a specific support organisation?","kind":"action"}]}]}]},{"id":"learn","name":"Learn","description":"Research and teaching.","layers":[{"id":"research","name":"Research","description":"Research.","findings":[{"id":"research-finding","name":"Research","description":"Research.","questions":[{"text":"What are current research directions, including regenerative approaches?","kind":"provenance"},{"text":"Which references are standard?","kind":"provenance"}]}]},{"id":"teach","name":"Teach","description":"Teaching.","findings":[{"id":"teach-finding","name":"Teach","description":"Teaching.","questions":[{"text":"How can congenital anomalies be taught respectfully?","kind":"action"},{"text":"Which misconceptions arise?","kind":"provenance"}]}]}]}]},"agentConduct":{"may":["Explain agenesis in general terms and how it differs from hypoplasia and atrophy.","Point families to genetic counsellors, clinicians and support groups."],"mustNot":["Diagnose agenesis or predict outcomes for a particular person or pregnancy.","Deliver distressing prognostic information bluntly or without context.","Advise on pregnancy decisions for a person's case.","Describe people born with agenesis as defective or incomplete."],"requiresHuman":["Any decision about prenatal testing, pregnancy or treatment."]},"ethics":{"considerations":["News of a congenital absence can devastate families; it must be delivered with care.","People living with agenesis deserve to be described with dignity."],"affectedParties":["People born with agenesis","Parents and families","Clinicians"]},"owners":{"steward":"Nobody owns the concept; clinicians answer for diagnosis and care.","roles":[],"masterSystems":[]},"relations":[{"target":"Q3281904","type":"parent","note":"registry parent class"},{"target":"Q5488","type":"parent","note":"registry parent class"},{"target":"congenital physical abnormality","type":"related","note":"category"},{"target":"aplasia","type":"related","note":"category"},{"target":"embryogenesis","type":"related","note":"developmental origin"},{"target":"infertility","type":"related","note":"a possible consequence of some forms"}],"interaction":{"identity":{"applicability":"required","items":["Vercy registry: vr.tr.agenesis","Wikidata: Q392604 (https://www.wikidata.org/wiki/Q392604)"]},"properties":{"applicability":"not-applicable","items":[]},"recognition":{"applicability":"optional","items":["Organ or part never developed","Present from birth","Atrophy is loss after development; hypoplasia is underdevelopment","Not visible as a category; absence of a specific structure."]},"capabilities":{"applicability":"required","items":["explain forms","distinguish related terms","describe diagnosis and care generally","route personal questions"]},"hazards":{"applicability":"required","items":["Agents giving personal medical advice","Confusing agenesis with hypoplasia or atrophy","Distressing information delivered without care"]},"interfaces":{"applicability":"required","items":["Clinical classification of congenital anomalies","Prenatal screening guidelines","Rare disease registries"]},"context":{"applicability":"required","items":["Congenital absence of a body part.","renal and urogenital agenesis","agenesis of airway and thoracic structures","craniofacial agenesis such as absence of the nose","agenesis of reproductive structures","agenesis of limbs and other parts"]}},"sources":[{"title":"Wikidata item Q392604: agenesis","url":"https://www.wikidata.org/wiki/Q392604","note":"identity and sense of the item"},{"title":"Wikipedia: Agenesis","url":"https://en.wikipedia.org/wiki/Agenesis","note":"general description of the item"}],"openQuestions":["Should each agenesis form be a separate entry?","How should rare disease resources be linked?","How should support organisations be linked?"],"resources":{"spec":"/models/things/publications/thing-q392604/spec.json"},"provenance":{"origin":"thing registry research (pass 2)","builtFrom":["models/things/publications/thing-q392604/spec.json"],"providers":["Claude"],"researchStatus":"unreviewed","generatedAt":"2026-09-12T00:17:05Z","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 2026-10-06T19:51:59+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}}