Down syndrome
Enable an AI agent to distinguish suspected from confirmed Down syndrome, record an individual's condition-related state and support needs, and identify evidence-supported actions requiring appropriate clinical oversight and consent.
Bundle → Layer → Finding → Questions Filled
6 bundles · 11 layers · 18 findings · 31 questions
Diagnostic grounding Record why Down syndrome is suspected or established and what the available chromosome evidence actually supports.
Recognition and certainty
Separate the reason for investigation from the evidence establishing the condition.
Basis of diagnosis
Record the diagnostic conclusion, its author and supporting report; preserve suspicion when confirmation is unavailable.
- Is the current label based on screening, clinical suspicion or a diagnostic investigation? definition
- Which original report and clinician interpretation support the recorded conclusion? provenance
Chromosome interpretation
Represent the documented form and limits of the genetic evidence.
Genetic form and limits
Preserve the reported chromosome result, sampled tissue and any unresolved mosaicism or rearrangement interpretation.
- What chromosome result, specimen, method and cell counts were reported? measurement
- Does a genetics professional identify unresolved interpretation or a need for family investigations? action
- What conclusions about other tissues or individual functioning does this report leave unsupported? boundary
Individual development and function Represent the person's observed abilities and support needs across development.
Developmental profile
Track abilities separately across relevant domains.
Documented abilities
Record strengths, difficulties and developmental progress using dated observations with assessment context.
- What can the person currently do in communication, learning, mobility and daily living, with and without support? measurement
- Who assessed these abilities, using which tools, language and accommodations? provenance
Communication and participation
Connect the developmental profile to accessible interactions and personally meaningful activities.
Effective supports
Record which communication, learning and environmental supports help this individual participate.
- How does the person express preferences, discomfort, agreement and refusal most reliably? measurement
- Which support changes would advance a goal expressed by the person, and how will benefit be evaluated? action
Associated health and surveillance Link individual health findings to Down syndrome-specific review requirements.
Associated-condition evidence
Track assessed and unresolved health concerns without duplicating their clinical models.
Health assessment coverage
Record assessment status for relevant concerns, including cardiac disease, hearing impairment and obstructive sleep apnea. These are associated with Down syndrome. [CDC: Down Syndrome](https://www.cdc.gov/birth-defects/about/down-syndrome.html)
- Which relevant conditions have been assessed, with what dated results and remaining uncertainty? measurement
- Which findings require a linked condition model or specialist review rather than attribution to Down syndrome alone? boundary
Age-applicable surveillance
Attach surveillance decisions to a specific guideline and the person's age and history.
Surveillance plan
Record applicable monitoring, last completion and follow-up ownership. Pediatric guidance addresses thyroid, hearing, vision, sleep and other concerns across age groups. [AAP: Health Supervision](https://publications.aap.org/pediatrics/article/149/5/e2022057010/186778/Health-Supervision-for-Children-and-Adolescents)
- Which guideline version and age range justify each proposed assessment? provenance
- What is due or unresolved, who will arrange it, and what explains any deferral? action
- Where does pediatric guidance cease to apply, requiring an adult-care source? boundary
Longitudinal change and escalation Distinguish the enduring diagnosis from changes in health, behavior and established abilities.
Baseline comparison
Describe what changed, when and under which circumstances.
New difficulty or skill loss
Record changes in communication, self-care, movement, sleep or engagement as observations requiring interpretation.
- Which previously established ability or usual behavior changed, and over what interval? measurement
- What evidence separates a persistent change from differences in setting, support or observation? provenance
Assessment and response
Connect changes to review without assigning an unsupported explanation.
Change review pathway
Preserve proposed explanations as hypotheses and record clinician-directed evaluation, urgency and follow-up.
- Which possible explanations have been evaluated, and which remain hypotheses? boundary
- What documented clinical criteria determine the urgency and responsible service for this change? action
- What follow-up observation will show improvement, persistence or further deterioration? measurement
Supported decisions and continuity Make condition-related decisions accessible and maintain continuity between genetics, developmental and lifelong health services.
Accessible condition decisions
Represent the person's participation in discussions about Down syndrome-related assessment and support.
Preferences and decision support
Record accessible explanations, expressed preferences and decision-specific support rather than deriving decision-making ability from the diagnosis.
- What does the person understand and want regarding the proposed condition-related assessment or support? measurement
- What communication assistance and documented consent or representative authority apply to this specific decision? action
Genetics and care handover
Preserve essential condition knowledge when clinical teams or support settings change.
Continuity requirements
Carry forward the chromosome report, individual baseline, surveillance history, effective accommodations and unresolved genetics questions.
- Which Down syndrome-specific evidence and outstanding assessments must the receiving team acknowledge? action
- Who owns unresolved genetic counseling, surveillance and support actions after the transition? action
Evidence and external alignment What the world already says about this thing, gathered so the model can be checked against it.
Reported evidence
Findings from the breadth pass, kept separate from the structural claims.
Kinds and varieties
Reported by the breadth pass; each item needs checking against its source before it becomes normative.
- Which of these kinds and varieties hold for the sense of Down syndrome this model covers, and on what evidence? provenance
Identifiers and schemes
Reported by the breadth pass; each item needs checking against its source before it becomes normative.
- Which of these identifiers and schemes hold for the sense of Down syndrome this model covers, and on what evidence? provenance
Standards and regulation
Reported by the breadth pass; each item needs checking against its source before it becomes normative.
- Which of these standards and regulation hold for the sense of Down syndrome this model covers, and on what evidence? provenance
Real-world use
Reported by the breadth pass; each item needs checking against its source before it becomes normative.
- Which of these real-world use hold for the sense of Down syndrome this model covers, and on what evidence? provenance
Typical measurements
Reported by the breadth pass; each item needs checking against its source before it becomes normative.
- Which of these typical measurements hold for the sense of Down syndrome this model covers, and on what evidence? provenance
Failure modes and hazards
Reported by the breadth pass; each item needs checking against its source before it becomes normative.
- Which of these failure modes and hazards hold for the sense of Down syndrome this model covers, and on what evidence? provenance
Regional variation
Reported by the breadth pass; each item needs checking against its source before it becomes normative.
- Which of these regional variation hold for the sense of Down syndrome this model covers, and on what evidence? provenance
Neighbouring kinds and how to tell them apart
Reported by the breadth pass; each item needs checking against its source before it becomes normative.
- Which of these neighbouring kinds and how to tell them apart hold for the sense of Down syndrome this model covers, and on what evidence? provenance
Classifiers Filled
- Family
- Thing Registry
- Category
- Cross-cutting context
- Entry kind
- thing
- Plane
- XCT
- Domain
- XCT.STA
What it is Filled
Down syndrome is a human chromosomal disorder caused by complete or partial trisomy of chromosome 21, producing a consistent but variable pattern of hypotonia, characteristic dysmorphology, developmental delay, and a raised lifetime risk of specific congenital and acquired diseases.
In scope
- Diagnostic certainty and evidence for additional chromosome 21 material
- Cytogenetic form, specimen context and unresolved genetic interpretation
- Individual developmental, communication and functional profile
- Down syndrome-specific health surveillance and associated-condition links
- Changes from personal baseline and resulting assessment needs
- Condition-related support priorities, accessible participation and care transitions
Out of scope
- The person's identity, worth, personality or presumed decision-making capacity
- Complete models of associated heart disease, thyroid disease, sleep apnea or other diagnoses
- Laboratory assay design and specimen-processing workflows
- General pregnancy management and reproductive decisions
- Detailed educational curricula, therapy protocols and service administration
- Population surveillance, prevalence estimation and general chromosome biology
Why it exists Filled
Enable an AI agent to distinguish suspected from confirmed Down syndrome, record an individual's condition-related state and support needs, and identify evidence-supported actions requiring appropriate clinical oversight and consent.
Distinguishing features Filled
- Check for diagnostic evidence of additional chromosome 21 material; developmental delay or appearance alone does not establish the condition. [CDC: Down Syndrome](https://www.cdc.gov/birth-defects/about/down-syndrome.html)
- Distinguish a prenatal screening result indicating increased probability from a diagnostic result establishing the condition. [CDC: Down Syndrome](https://www.cdc.gov/birth-defects/about/down-syndrome.html)
- Distinguish separate-copy trisomy 21, translocation and mosaic forms through chromosome findings rather than outward similarity. [CDC: Down Syndrome](https://www.cdc.gov/birth-defects/about/down-syndrome.html)
- Check which chromosome has additional material; trisomy involving another chromosome is not evidence of Down syndrome. [CDC: Down Syndrome](https://www.cdc.gov/birth-defects/about/down-syndrome.html)
- Keep recognition of Down syndrome separate from predictions about the individual: prenatal tests cannot establish its full future impact. [CDC: Down Syndrome](https://www.cdc.gov/birth-defects/about/down-syndrome.html)
What robots and AI may and may not do Filled
Must not
- Use demeaning language or stereotypes about people with Down syndrome.
- Infer that a person has Down syndrome from images and act on it.
- Share a person's diagnosis or genetic data without consent.
- Make decisions for an adult with Down syndrome that they can make themselves.
Only with a human decision
- Medical decisions for a person who needs support to decide.
- Prenatal testing advice, which belongs with clinicians and the family.
May
- Explain Down syndrome from medical and disability organization sources.
- Support people with Down syndrome in communicating and making their own choices.
Moral aspects Filled
- People with Down syndrome have rights to inclusion, dignity and self-determination.
- Prenatal screening raises deep ethical questions for families and disability communities.
Who is affected
- People with Down syndrome
- Families
- Carers
Owners Filled
Steward
Each person answers for their own life, with support; nobody owns the condition.
Links to other meta-models Filled
parent
- Q4501577 - registry parent class
- Q480700 - registry parent class
- Q55789082 - registry parent class
What else AI and robots need to interact with it Filled
Identity and identifiers required Filled
- Vercy registry: vr.tr.down-syndrome
- Wikidata: Q47715 (https://www.wikidata.org/wiki/Q47715)
Direct properties not applicable Not applicable
- Diagnostic standing: Screening indication; clinically suspected; diagnostically confirmed; unresolved discordance; ruled out
- Cytogenetic interpretation: Separate-copy trisomy 21; translocation; mosaic; other specialist-interpreted finding; unresolved
- Diagnostic evidence: Linked report, method, specimen, collection date and interpreting clinician
- Reported mosaic cell fraction: Percentage or abnormal-cell count/total examined, with tissue and method; unknown; not applicable
- Developmental and adaptive baseline: Domain-specific observations or instrument scores, with date, context and accommodations
- Communication access: Preferred language and expressive/receptive modes, communication aids and required accommodations
- Associated-condition assessment status: Per condition: not assessed; suspected; confirmed; assessed absent; historical; unresolved
- Surveillance position: Per assessment: due; scheduled; completed; deferred; declined; applicability unresolved
- Change from personal baseline: Stable; gaining skills; new difficulty; loss of established skills; insufficient comparison
Plane XCT: no invented physical properties.
Recognition not applicable Not applicable
Not applicable
The underlying chromosomal condition is not directly visible, and appearance alone cannot reliably establish an individual's diagnosis.
Capabilities and actions required Filled
- Reconcile screening, clinical and chromosome evidence while retaining unresolved discrepancies.
- Produce an individualized condition summary separating observations, associated diagnoses and unanswered questions.
- Identify surveillance gaps against an explicitly selected, dated and age-applicable guideline.
- Flag documented loss of skills or new symptoms for appropriate clinical assessment.
- Prepare accessible care discussions and support referrals around the person's recorded priorities.
- Coordinate genetics review and care transitions with linked evidence, responsible professionals and outstanding actions.
Hazards and failure modes required Filled
- Heart and thyroid conditions that need monitoring.
- Exclusion and discrimination in education and work.
Standards and interfaces required Filled
- The International Classification of Diseases, Tenth Revision, issued by the World Health Organization, classifies Down syndrome under category Q90.
Context of use required Filled
- This condition is encountered in prenatal assessment, clinical genetics, childhood development services and lifelong healthcare.
- Recording a confirmed diagnosis helps coordinate individualized healthcare, educational support and accommodations without assuming that all affected people have the same abilities or needs.
Sources Filled
- Down Syndrome, OMIM #190685 - Genetic identity as trisomy 21, OMIM identifier, critical-region genes, and the main cytogenetic classes.
- Health Supervision for Children With Down Syndrome (Clinical Report) - Clinical surveillance schedule, typical comorbidities, and measurements used in paediatric practice.
- ICD-11 MMS LD40.0 Down syndrome - WHO diagnostic code and placement among chromosomal disorders due to extra chromosomes.
- Facts about Down Syndrome - Live-birth occurrence in the United States and public-health framing of the condition.
- Down syndrome (Q47715) - Cross-walk among Wikidata, ICD, MeSH, Orphanet, OMIM and related identifiers.
- Wikipedia: Down syndrome - general description of the item
Open questions
- Which existing Vercy world model, if any, already owns Down syndrome and should receive this registry link instead of a separate publication?
- What specialist criteria should govern inclusion of rare partial chromosome 21 duplications and discordant prenatal or tissue-specific findings?
- Which current pediatric and adult guidelines should govern surveillance in each supported jurisdiction, and how should conflicting recommendations be represented?
- Which measures best capture individual development and acquired decline across ages, languages and communication profiles without confusing lifelong differences with new impairment?
- What evidence and specialist pathways should govern suspected regression or dementia, including escalation thresholds and uncertainty about alternative explanations?
Machine files
Provenance
thing registry research (pass 2) · unreviewed
Built from: models/things/publications/thing-q47715/spec.json