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amelia

vr.tr.amelia · thing-q23900578

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.

Thing Registry Activities and processes ACT.PRC
Bundle → Layer → Finding → QuestionsClassifiersWhat it isWhy it existsDistinguishing featuresWhat robots and AI may and may not doMoral aspectsOwnersLinks to other meta-modelsIdentity and identifiersDirect propertiesRecognitionCapabilities and actionsHazards and failure modesStandards and interfacesContext of useSources

Bundle → Layer → Finding → Questions Filled

4 bundles · 8 layers · 8 findings · 16 questions

Understand What amelia is.

Definition

Definition.

Definition

Definition.

  1. What is amelia, and how does it differ from phocomelia, meromelia, amputation and amniotic band sequence? definition
  2. Is the question from a family after a prenatal finding, in which case genetic counselling and specialist teams can help? boundary

Forms

Named forms.

Forms

Forms.

  1. What are acheiria, abrachia, acheiropody, apodia, lower-limb amelia and autosomal recessive amelia? definition
  2. Which entry fits the specific form? action
Medical Causes and diagnosis.

Causes

Causes.

Causes

Causes.

  1. What genetic and environmental causes are described? provenance
  2. Which references are standard? provenance

Diagnosis

Diagnosis.

Diagnosis

Diagnosis.

  1. How are limb reduction defects detected and assessed? provenance
  2. Which sources are cited? provenance
Living Living with limb difference.

Rehabilitation

Rehabilitation.

Rehabilitation

Rehabilitation.

  1. What occupational therapy, adaptive tools and prosthetics options exist? provenance
  2. Which entry fits prosthesis? action

Community

Peer support.

Community

Community.

  1. Which organisations support people with limb differences, and what do disabled people say about their lives? provenance
  2. Which entry fits limb difference? action
Context History.

Thalidomide

Thalidomide.

Thalidomide

Thalidomide.

  1. How did the thalidomide tragedy change drug regulation? provenance
  2. Which entry fits thalidomide scandal? action

Notable people

Notable people.

Notable people

Notable people.

  1. Which public figures with limb differences have spoken about their experiences? provenance
  2. Which entry fits disability rights movement? action

Classifiers Filled

Family
Thing Registry
Category
Activities and processes
Entry kind
thing
Plane
ACT
Domain
ACT.PRC
Other names and narrower kinds
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

What it is Filled

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.

Why it exists Filled

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.

Distinguishing features Filled

  • Complete limb absence
  • Congenital
  • Genetic or environmental causes
  • Very rare

What robots and AI may and may not do Filled

Must not

  • 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.

Only with a human decision

  • Any decision on prenatal testing or pregnancy.

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.

Moral aspects Filled

  • People with limb differences face stigma and barriers.
  • Families need honest, non-judgemental information.

Who is affected

  • People with limb differences
  • Families
  • Expectant parents

Owners Filled

Steward

Nobody owns a condition; clinicians and genetic services care for those affected.

Master systems

  • Congenital anomaly registries

Links to other meta-models Filled

parent

  • Q1269288 - registry parent class
  • Q1323724 - registry parent class
  • Q55788825 - registry parent class

related

  • dysmelia - in registry terms
  • phocomelia
  • thalidomide - historically
  • amputation

What else AI and robots need to interact with it Filled

Identity and identifiers required Filled

  • Vercy registry: vr.tr.amelia
  • Wikidata: Q23900578 (https://www.wikidata.org/wiki/Q23900578)

Direct properties not applicable Not applicable

  • tetra-amelia gene: WNT3 gene - autosomal recessive form
  • thalidomide period: late 1950s to early 1960s note
  • prenatal detection: ultrasound note

Plane ACT: no invented physical properties.

Recognition optional Filled

  • 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 and actions required Filled

  • explain in general terms
  • relay causes and support
  • describe named forms
  • point to counselling and support

Hazards and failure modes required Filled

  • Stigmatising language
  • Diagnosing individuals remotely
  • Neglecting family support needs

Standards and interfaces required Filled

  • Birth defect surveillance programmes
  • Drug safety regulation after thalidomide
  • Disability rights law

Context of use required Filled

  • Not applicable; a congenital condition.
  • tetra-amelia
  • single-limb amelia
  • distal absences such as acheiria and apodia
  • acheiropody
  • syndromic and non-syndromic forms

Sources Filled

  1. Wikidata item Q23900578: amelia - identity and sense of the item
  2. Wikipedia: Amelia (birth defect) - general description of the item

Open questions

  • Should the named distal absences be separate entries?
  • How should Orphanet and OMIM be linked?
  • How should disability-led perspectives be linked?

Machine files

Card as JSON Specification Card backlog vercy.card/1

Provenance

thing registry research (pass 2) · unreviewed

Built from: models/things/publications/thing-q23900578/spec.json