neuroacanthocytosis
Enable an agent to recognise neuroacanthocytosis as a disease-group concept, assess subtype and diagnostic uncertainty, and identify evidence needed for appropriate clinical review.
Bundle → Layer → Finding → Questions Filled
6 bundles · 11 layers · 17 findings · 28 questions
Disease-group boundaries Establish what neuroacanthocytosis denotes in each assertion.
Umbrella and subtypes
Preserve the registry concept while identifying narrower disease meanings.
Intended disease membership
Record the source-defined group boundary and any linked subtype without creating a duplicate registry model.
- Does this source use neuroacanthocytosis for an umbrella group, VPS13A disease, McLeod syndrome or another explicitly named grouping? definition
- Which authority and publication date support including or excluding each proposed member? provenance
Coding and ascertainment
Connect labels and frequency claims to explicit concept boundaries.
Versioned concept mapping
Treat diagnostic codes and population estimates as sourced assertions whose scope must match the umbrella or subtype.
- Which ICD-10, ICD-11 or SNOMED CT release and jurisdiction provide the proposed mapping, and is it exact, broader or narrower? provenance
- Does a quoted prevalence count the umbrella group or a particular subtype, in which population and observation period? measurement
Diagnostic evidence Assess red-cell, clinical and molecular evidence without equating a suggestive observation with a diagnosis.
Red-cell morphology
Capture the technical and temporal context of acanthocyte observations.
Interpretable acanthocyte result
Preserve the original result and method rather than reducing morphology to an unexplained positive or negative flag.
- What acanthocyte proportion was reported, using which preparation, counting method, specimen age and laboratory reference? measurement
- How were acanthocytes distinguished from echinocytes or preparation artefacts, and does uncertainty justify laboratory review? action
Subtype confirmation
Relate genetic and specialist evidence to a clearly stated diagnostic conclusion.
Molecular and clinical concordance
Record why the available evidence supports, fails to resolve or contradicts the proposed subtype.
- Which gene findings, zygosity, assay limitations and dated variant interpretations support the proposed disease attribution? provenance
- Which issuing body or expert source supplies the diagnostic framework and revision used, and what remains unresolved under it? definition
- Could the neurological syndrome or acanthocytosis have an alternative explanation requiring separate assessment? boundary
Neurological expression and course Represent the manifestation pattern and observed evolution relevant to recognition and function.
Manifestation pattern
Record observed motor and non-motor features separately from inferred disease membership.
Domain-specific phenotype
Assess potentially relevant movement, bulbar, seizure, behavioural, cognitive and neuromuscular domains without presuming their presence.
- Which movement abnormalities, feeding-related oral movements, tongue or lip injuries, speech changes or swallowing difficulties are actually documented? measurement
- What evidence documents seizures, behavioural or cognitive change, weakness or peripheral nerve involvement, and which findings remain suspected? measurement
Trajectory and function
Distinguish observed progression from episodic or treatment-associated changes.
Dated functional change
Use comparable observations and explicit milestones rather than imposing an unsupported universal stage.
- When did each manifestation begin, and how have mobility, communication, feeding and daily activities changed across dated assessments? measurement
- If a stage or severity scale is assigned, which subtype, validation source and version justify its use? provenance
Systemic and inheritance context Keep blood-group, systemic and familial implications conditional on the disease evidence.
McLeod-specific context
Connect relevant haematological and cardiac assessments to supported McLeod attribution.
Blood-group and cardiac implications
McLeod syndrome can involve cardiac disease as well as a distinctive blood-group phenotype; record specialist interpretation and assessed involvement. [GeneReviews: McLeod Neuroacanthocytosis Syndrome](https://www.ncbi.nlm.nih.gov/books/NBK1354/)
- What Kx/Kell findings and antibody results are documented, and has transfusion medicine recorded their compatibility implications? action
- What cardiac symptoms, investigations and surveillance recommendations are documented for the supported subtype? measurement
Familial attribution
Represent inheritance claims through the established subtype and molecular findings.
Supported family risk
Keep a relative's risk, carrier status, molecular result and clinical manifestations distinct.
- Which subtype-specific inheritance interpretation is supported by the molecular result and available pedigree? provenance
- What genetics review is needed before applying this interpretation to relatives or reproductive decisions? action
Care decisions and evidence limits Turn documented manifestations and uncertainty into reviewable clinical assessment needs.
Manifestation-led assessment
Identify review needs from current findings and the supported subtype.
Prioritised specialist review
Connect documented concerns to the responsible clinical service and the question requiring resolution.
- Do documented swallowing difficulties, weight change, seizures, injuries or cardiac symptoms require a change in assessment priority? action
- Which neurology, swallowing, nutrition, cardiology, haematology or genetics review would resolve the identified concern? action
Intervention applicability
Evaluate proposed interventions against the actual subtype, target manifestation and evidence.
Bounded treatment claim
Separate a treatment claim from an individual prescription and distinguish symptomatic outcomes from claims about disease progression.
- For a proposed medicine, feeding intervention or deep brain stimulation, which subtype, target symptom, evidence source and publication date support applicability? provenance
- Which baseline, intended outcome, adverse effects and reassessment interval would allow the treating team to evaluate benefit? 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.
Check these first
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these check these first hold for the sense of neuroacanthocytosis this model covers, and on what evidence? provenance
Kinds and varieties
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these kinds and varieties hold for the sense of neuroacanthocytosis this model covers, and on what evidence? provenance
Identifiers and schemes
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these identifiers and schemes hold for the sense of neuroacanthocytosis this model covers, and on what evidence? provenance
Real-world use
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these real-world use hold for the sense of neuroacanthocytosis this model covers, and on what evidence? provenance
Typical measurements
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these typical measurements hold for the sense of neuroacanthocytosis this model covers, and on what evidence? provenance
Failure modes and hazards
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these failure modes and hazards hold for the sense of neuroacanthocytosis this model covers, and on what evidence? provenance
Neighbouring kinds and how to tell them apart
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these neighbouring kinds and how to tell them apart hold for the sense of neuroacanthocytosis this model covers, and on what evidence? provenance
Classifiers Filled
- Family
- Thing Registry
- Category
- Information and virtual systems
- Entry kind
- thing
- Plane
- INF
- Domain
- INF.KNW
- Other names and narrower kinds
- Huntington disease-like 2, chorea-acanthocytosis, choreoacanthocytosis amyotrophic
What it is Filled
Neuroacanthocytosis is a heterogeneous group of inherited neurological disorders associated with acanthocytes, or irregularly spiculated red blood cells, whose core syndromes are VPS13A disease and McLeod syndrome, although acanthocytes may be absent when tested.
In scope
- Umbrella terminology and its relationship to VPS13A disease, McLeod syndrome and historically associated disorders
- Neurological manifestations and laboratory evidence of acanthocytosis, including discordant findings
- Molecular, inheritance and blood-group evidence supporting subtype attribution
- Longitudinal neurological, functional and relevant systemic involvement
- Versioned diagnostic and coding assertions, population estimates and unresolved evidence
- Subtype-dependent assessment, surveillance and specialist referral needs
Out of scope
- The patient's identity, complete health record and unrelated conditions
- Appointments, admissions and other episodes of care
- Full standalone models of constituent genetic diseases
- General red-cell morphology and causes of isolated acanthocytosis
- Laboratory assay operation, genomic variant databases and blood-product inventories
- Independent prescribing decisions or treatment protocols
Why it exists Filled
Enable an agent to recognise neuroacanthocytosis as a disease-group concept, assess subtype and diagnostic uncertainty, and identify evidence needed for appropriate clinical review.
Distinguishing features Filled
- Determine whether the label denotes an umbrella group or a specific molecular disease; neuroacanthocytosis must not automatically mean VPS13A disease. [GeneReviews: VPS13A Disease](https://www.ncbi.nlm.nih.gov/books/NBK1387/)
- Test whether the interpretation improperly requires acanthocytes: they can be absent in VPS13A disease, and their presence alone does not establish that diagnosis. [GeneReviews: VPS13A Disease](https://www.ncbi.nlm.nih.gov/books/NBK1387/)
- Distinguish the McLeod blood-group phenotype using absent Kx and weakened or absent Kell expression; distinguish this laboratory phenotype from documented neurological involvement. [GeneReviews: McLeod Neuroacanthocytosis Syndrome](https://www.ncbi.nlm.nih.gov/books/NBK1354/)
- Require evidence beyond chorea or another movement disorder before assigning neuroacanthocytosis; record whether genetic, haematological and clinical findings support the same subtype.
- Separate neurological disease with acanthocytosis from an incidental red-cell abnormality or an alternative disorder explaining both observations.
What robots and AI may and may not do Filled
Must not
- Diagnose or rule out these disorders in a specific person.
- Disclose a person's diagnosis or genetic status without consent.
- Present unproven therapies as cures.
- Treat movement or behaviour symptoms as wilful misconduct.
Only with a human decision
- Decisions on genetic testing, including of relatives.
- Decisions on feeding support or care placement.
May
- Explain neuroacanthocytosis syndromes and their genetics from medical sources.
- Point families to specialist neurology and genetic counselling services.
Moral aspects Filled
- Rare inherited diseases affect whole families and their choices.
- Neuropsychiatric symptoms can lead to stigma and misunderstanding.
Who is affected
- Patients
- Families
- Carers
Owners Filled
Steward
The patient with their clinicians; rare disease registries hold research records.
Master systems
- Rare disease patient registries
Links to other meta-models Filled
parent
- Q24977062 - registry parent class
- Q55346116 - registry parent class
What else AI and robots need to interact with it Filled
Identity and identifiers required Filled
- Vercy registry: vr.tr.neuroacanthocytosis
- Wikidata: Q746781 (https://www.wikidata.org/wiki/Q746781)
Direct properties not applicable Not applicable
- Meaning of the recorded label: umbrella disease group | subtype-specific usage | historical usage | unresolved
- Subtype attribution: linked disease concept, attribution evidence and assertion date
- Diagnostic assertion status: suspected | supported | established | disputed | excluded; with named evidentiary basis
- Acanthocyte assessment: percentage of assessed erythrocytes; method, denominator, specimen handling, date and laboratory interpretation
- Molecular evidence: gene, variant, transcript, zygosity, phase where relevant, assay coverage and dated classification
- Kx and Kell phenotype: reported antigen expression, assay method, mixed populations and specialist interpretation
- Neurological and systemic involvement: dated domain-specific observations, severity, functional effect and assessment method
- Onset and observed trajectory: age at first manifestation in years; dated changes and observation intervals
- Terminology mapping: coding system, release, jurisdiction, code, label and exact/broader/narrower mapping
- Population frequency assertion: cases per stated denominator, population, period, subtype definition and ascertainment method
Plane INF: no invented physical properties.
Recognition not applicable Not applicable
Not applicable
Neuroacanthocytosis is a disease-group concept that cannot be identified visually from a person or a blood smear alone.
Capabilities and actions required Filled
- Resolve a recorded neuroacanthocytosis label to its intended umbrella or subtype meaning.
- Identify missing or conflicting morphology, molecular and blood-group evidence for specialist review.
- Compare dated manifestations and functional observations without inventing a universal staging system.
- Identify assessment and surveillance questions appropriate to the supported subtype.
- Prepare a provenance-linked clinical summary that separates observations, interpretations and unresolved claims.
Hazards and failure modes required Filled
- Swallowing problems and tongue biting can cause choking and weight loss.
- Seizures and falls cause injury.
Standards and interfaces required Filled
- The Orphanet nomenclature of rare diseases, maintained by the INSERM-coordinated Orphanet network, provides classification and identifiers for neuroacanthocytosis and its constituent disorders.
Context of use required Filled
- Neuroacanthocytosis is encountered in neurology, clinical genetics and research concerning inherited disorders with neurological and blood cell abnormalities.
- The term groups related presentations while leaving the underlying syndrome to be established from clinical and laboratory evidence.
- It supports discussion of diagnostic uncertainty because acanthocytes may be absent in a tested sample.
Sources Filled
- Wikidata item Q746781: neuroacanthocytosis - identity and sense of the item
- Wikipedia: Neuroacanthocytosis - general description of the item
Open questions
- Which contemporary authority should define the registry umbrella's membership, especially the status of historically associated lipid disorders, Huntington disease-like 2 and pantothenate kinase-associated neurodegeneration?
- Which current ICD-10, ICD-11 and SNOMED CT identifiers map to the umbrella and its constituent diseases in the intended jurisdiction?
- Which diagnostic frameworks and acanthocyte assessment methods should be adopted, and what are their limitations across subtypes and disease phases?
- What population- and year-specific prevalence estimates are sufficiently supported, and how much do ascertainment and subtype definitions affect them?
- Which longitudinal outcome measures, surveillance intervals and intervention evidence are validated for each subtype rather than extrapolated across the group?
Machine files
Provenance
thing registry research (pass 2) · unreviewed
Built from: models/things/publications/thing-q746781/spec.json