{"schema":"https://ver.cy/schemas/card/1.0.0","id":"vr.tr.mcleod-syndrome","code":"thing-q966149","url":"https://ver.cy/models/thing/q966149/","name":"McLeod syndrome","alternateNames":[],"kind":"thing","status":"published","version":"0.1.0-research.1","language":"en","classifiers":{"family":"Thing Registry","category":"Cross-cutting context","entryKind":"thing","plane":"XCT","domain":["XCT.STA"],"industry":[],"navPath":"","tags":[],"facets":{}},"whatItIs":"McLeod syndrome is a rare X-linked multisystem disorder caused by pathogenic variants in XK, characterised by absent red-cell Kx antigen, weakened Kell antigen expression, and variable neurological, neuromuscular, cardiac and haematological involvement.","purpose":"Enable an agent to recognise McLeod syndrome, assess the evidence and extent of its manifestations, and identify appropriate specialist review and care coordination.","scope":{"in":["Evidence linking XK variation and McLeod blood group findings to the syndrome","Distinction between blood group phenotype, genetic status and clinical manifestations","Neurological, psychiatric, neuromuscular, cardiac and haematological involvement","Age-dependent presentation and longitudinal progression","Disease-specific transfusion considerations and family assessment","Versioned diagnostic guidance, terminology mappings and population evidence"],"out":["Patient identity and the complete longitudinal health record","Individual consultations, admissions and episodes of care","General blood donation, component inventory and transfusion procedures","Independent models of Huntington disease, VPS13A disease and other differential diagnoses","Laboratory assay implementation and comprehensive variant databases","Independent conditions caused by neighbouring genes in a larger deletion"],"boundaries":[]},"distinguishingFeatures":["Absent Kx with weakened or absent Kell antigen expression identifies the McLeod blood group phenotype; KEL-null instead has strong Kx expression. [GeneReviews](https://www.ncbi.nlm.nih.gov/books/NBK1354/)","Disease-associated XK findings distinguish McLeod syndrome from VPS13A disease despite overlapping clinical features. [XK-associated McLeod syndrome review](https://pubmed.ncbi.nlm.nih.gov/35221863/)","Acanthocytes support assessment but are not required for diagnosis. [GeneReviews](https://www.ncbi.nlm.nih.gov/books/NBK1354/)","A Huntington-like presentation alone does not establish McLeod syndrome; retain disease-specific molecular and immunohaematological evidence. [Genotype and phenotype study](https://pubmed.ncbi.nlm.nih.gov/11761473/)","Blood group phenotype and neurological manifestation status must be recorded separately. [Phenotype study](https://pubmed.ncbi.nlm.nih.gov/12823753/)"],"structure":{"bundles":[{"id":"disease-identity-and-diagnostic-boundaries","name":"Disease identity and diagnostic boundaries","description":"Identify what the registry entry denotes and what evidence supports an individual diagnostic assertion.","layers":[{"id":"concept-and-terminology","name":"Concept and terminology","description":"Maintain the registered concept and qualified links to clinical terminology.","findings":[{"id":"registered-concept-and-code-equivalence","name":"Registered concept and code equivalence","description":"Keep vr.tr.mcleod-syndrome authoritative while documenting whether external terms describe the syndrome, blood phenotype or a broader category.","questions":[{"text":"Does the cited term denote XK-associated McLeod syndrome, the McLeod blood group phenotype or a broader neuroacanthocytosis category?","id":"registered-concept-and-code-equivalence-q01","kind":"boundary"},{"text":"Which issuing body, release and jurisdiction support each proposed ICD or SNOMED mapping?","id":"registered-concept-and-code-equivalence-q02","kind":"provenance"}]}]},{"id":"diagnostic-evidence-and-alternatives","name":"Diagnostic evidence and alternatives","description":"Keep the reasoning for an assertion inspectable.","findings":[{"id":"evidence-sufficiency-and-discordance","name":"Evidence sufficiency and discordance","description":"Record the diagnostic framework applied and unresolved discrepancies between molecular, serological and clinical observations.","questions":[{"text":"Which published diagnostic guidance, version and assessor support the current diagnostic status?","id":"evidence-sufficiency-and-discordance-q01","kind":"provenance"},{"text":"What evidence distinguishes this assessment from VPS13A disease, Huntington disease or an isolated blood group finding?","id":"evidence-sufficiency-and-discordance-q02","kind":"boundary"},{"text":"Which discordant or missing results require specialist review before the assertion can change?","id":"evidence-sufficiency-and-discordance-q03","kind":"action"}]}]}]},{"id":"xk-causation-and-family-context","name":"XK causation and family context","description":"Represent molecular findings, their interpretation and their relevance to relatives.","layers":[{"id":"molecular-result-interpretation","name":"Molecular result interpretation","description":"Connect the disease assertion to an identifiable, dated molecular report.","findings":[{"id":"variant-classification-and-test-coverage","name":"Variant classification and test coverage","description":"Capture the reported XK finding and the limits of the assay used.","questions":[{"text":"What XK variant or deletion was reported, in what allelic state, and under which classification evidence and date?","id":"variant-classification-and-test-coverage-q01","kind":"provenance"},{"text":"Did testing evaluate sequence variants and copy-number changes, and what relevant limitations remain?","id":"variant-classification-and-test-coverage-q02","kind":"boundary"}]}]},{"id":"inheritance-and-deletion-boundaries","name":"Inheritance and deletion boundaries","description":"Separate family implications from unverified assumptions about manifestation.","findings":[{"id":"relative-status-and-neighbouring-genes","name":"Relative status and neighbouring genes","description":"Record family evidence, individual expression and any broader genomic finding without assigning diagnoses by relationship alone.","questions":[{"text":"Which relatives have documented molecular, blood group or clinical evidence, and which remain unassessed?","id":"relative-status-and-neighbouring-genes-q01","kind":"provenance"},{"text":"If a deletion extends beyond XK, which additional gene-associated conditions require separately linked assessments?","id":"relative-status-and-neighbouring-genes-q02","kind":"boundary"},{"text":"What consent and genetics consultation are needed before arranging testing or communicating familial implications?","id":"relative-status-and-neighbouring-genes-q03","kind":"action"}]}]}]},{"id":"blood-phenotype-and-transfusion-planning","name":"Blood phenotype and transfusion planning","description":"Preserve detailed blood findings and connect them to specialist compatibility assessment.","layers":[{"id":"antigen-and-red-cell-observations","name":"Antigen and red-cell observations","description":"Keep antigen expression, morphology and haemolysis assessments distinguishable.","findings":[{"id":"mcleod-phenotype-evidence","name":"McLeod phenotype evidence","description":"Record Kx and Kell findings separately from acanthocyte counts and other haematological observations.","questions":[{"text":"What methods and controls establish the Kx and Kell expression pattern, including any mixed cell populations?","id":"mcleod-phenotype-evidence-q01","kind":"measurement"},{"text":"What acanthocyte and haemolysis results are available, with sampling dates, methods and laboratory interpretation?","id":"mcleod-phenotype-evidence-q02","kind":"measurement"}]}]},{"id":"compatibility-and-specialist-plan","name":"Compatibility and specialist plan","description":"Link transfusion decisions to current specialist evidence.","findings":[{"id":"documented-transfusion-requirements","name":"Documented transfusion requirements","description":"Retain antibody history, prior reactions and the blood service's documented compatibility requirements.","questions":[{"text":"Which antibodies, previous transfusions and reactions are documented in verified blood service records?","id":"documented-transfusion-requirements-q01","kind":"provenance"},{"text":"Has transfusion medicine specified compatible components and a plan for obtaining them if needed?","id":"documented-transfusion-requirements-q02","kind":"action"},{"text":"What changes or proposed procedures trigger reassessment of that plan?","id":"documented-transfusion-requirements-q03","kind":"action"}]}]}]},{"id":"neurological-and-neuromuscular-course","name":"Neurological and neuromuscular course","description":"Record movement, cognition, behaviour, seizures and peripheral functional involvement over time.","layers":[{"id":"central-neurological-expression","name":"Central neurological expression","description":"Track distinct central nervous system manifestations and their functional consequences.","findings":[{"id":"movement-cognition-behaviour-and-seizures","name":"Movement, cognition, behaviour and seizures","description":"Maintain dated assessments with attribution, severity and uncertainty for each manifestation.","questions":[{"text":"Which movement, cognitive, psychiatric or seizure manifestations have been assessed, and when did each begin?","id":"movement-cognition-behaviour-and-seizures-q01","kind":"measurement"},{"text":"Which observations support attribution to McLeod syndrome rather than medication effects or another condition?","id":"movement-cognition-behaviour-and-seizures-q02","kind":"boundary"}]}]},{"id":"peripheral-function-and-progression","name":"Peripheral function and progression","description":"Follow muscle and peripheral nerve findings alongside practical function.","findings":[{"id":"neuromuscular-burden-and-functional-change","name":"Neuromuscular burden and functional change","description":"Relate examination and investigation results to changes in mobility, swallowing and daily activities.","questions":[{"text":"What do strength, reflex, creatine kinase and any electrophysiological assessments show, using dated methods and reference ranges?","id":"neuromuscular-burden-and-functional-change-q01","kind":"measurement"},{"text":"What documented change in mobility, swallowing or daily function warrants rehabilitation or additional specialist assessment?","id":"neuromuscular-burden-and-functional-change-q02","kind":"action"}]}]}]},{"id":"cardiac-risk-and-coordinated-review","name":"Cardiac risk and coordinated review","description":"Make cardiac assessment and the disease-specific follow-up plan visible.","layers":[{"id":"cardiac-expression","name":"Cardiac expression","description":"Represent structural and rhythm findings independently of neurological severity.","findings":[{"id":"cardiomyopathy-and-rhythm-status","name":"Cardiomyopathy and rhythm status","description":"Link symptoms and cardiac investigations to a current specialist assessment.","questions":[{"text":"What do dated ECG, rhythm monitoring and cardiac imaging show, including ventricular function where measured?","id":"cardiomyopathy-and-rhythm-status-q01","kind":"measurement"},{"text":"Which symptoms or findings require escalation under the treating team's documented cardiac plan?","id":"cardiomyopathy-and-rhythm-status-q02","kind":"action"}]}]},{"id":"review-plan-and-evidence-limits","name":"Review plan and evidence limits","description":"Coordinate disease-specific review without inventing surveillance intervals or prognostic stages.","findings":[{"id":"individualised-surveillance-and-management","name":"Individualised surveillance and management","description":"Associate each proposed review or intervention with its indication, responsible clinician and evidence basis.","questions":[{"text":"Which neurological, cardiac, haematological and functional reviews are due under the current specialist plan?","id":"individualised-surveillance-and-management-q01","kind":"action"},{"text":"Which source and publication date support each surveillance interval or management recommendation?","id":"individualised-surveillance-and-management-q02","kind":"provenance"},{"text":"What outcomes and adverse effects will determine whether an intervention should be reassessed?","id":"individualised-surveillance-and-management-q03","kind":"measurement"}]}]}]},{"id":"evidence-and-external-alignment","name":"Evidence and external alignment","description":"What the world already says about this thing, gathered so the model can be checked against it.","layers":[{"id":"reported-evidence","name":"Reported evidence","description":"Findings from the breadth pass, kept separate from the structural claims.","findings":[{"id":"evidence-confidence-notes","name":"Check these first","description":"Recalled without web access and unsourced; every item is a lead to verify.","questions":[{"text":"Which of these check these first hold for the sense of McLeod syndrome this model covers, and on what evidence?","id":"evidence-confidence-notes-q01","kind":"provenance"}]},{"id":"evidence-identifiers","name":"Identifiers and schemes","description":"Recalled without web access and unsourced; every item is a lead to verify.","questions":[{"text":"Which of these identifiers and schemes hold for the sense of McLeod syndrome this model covers, and on what evidence?","id":"evidence-identifiers-q01","kind":"provenance"}]},{"id":"evidence-real-world-use","name":"Real-world use","description":"Recalled without web access and unsourced; every item is a lead to verify.","questions":[{"text":"Which of these real-world use hold for the sense of McLeod syndrome this model covers, and on what evidence?","id":"evidence-real-world-use-q01","kind":"provenance"}]},{"id":"evidence-failure-modes-and-hazards","name":"Failure modes and hazards","description":"Recalled without web access and unsourced; every item is a lead to verify.","questions":[{"text":"Which of these failure modes and hazards hold for the sense of McLeod syndrome this model covers, and on what evidence?","id":"evidence-failure-modes-and-hazards-q01","kind":"provenance"}]},{"id":"evidence-neighbours","name":"Neighbouring kinds and how to tell them apart","description":"Recalled without web access and unsourced; every item is a lead to verify.","questions":[{"text":"Which of these neighbouring kinds and how to tell them apart hold for the sense of McLeod syndrome this model covers, and on what evidence?","id":"evidence-neighbours-q01","kind":"provenance"}]}]}]}]},"agentConduct":{"may":["Explain McLeod syndrome and its blood group findings in general terms.","Help a blood service or patient find information on rare blood types and donor registries."],"mustNot":["Diagnose the syndrome or interpret a person's genetic or blood test.","Advise on transfusion choices for a specific patient.","Disclose a person's genetic status, including to relatives, without consent.","Present psychiatric symptoms of the syndrome as character flaws."],"requiresHuman":["Transfusion decisions, which need compatible blood chosen by specialists.","Genetic testing of relatives."]},"ethics":{"considerations":["Patients may need rare compatible blood; accurate records protect their lives.","An X-linked condition raises family questions that each person must answer for themselves."],"affectedParties":["Patients, mostly men","Female carriers and relatives","Rare blood donors"]},"owners":{"steward":"Nobody owns the condition; patients and their clinicians answer for care.","roles":[],"masterSystems":["Rare donor registries","Rare disease registries"]},"relations":[{"target":"Q1337418","type":"parent","note":"registry parent class"},{"target":"Q18553438","type":"parent","note":"registry parent class"},{"target":"Q55785842","type":"parent","note":"registry parent class"},{"target":"Q55786153","type":"parent","note":"registry parent class"},{"target":"Q55786201","type":"parent","note":"registry parent class"},{"target":"Q55789124","type":"parent","note":"registry parent class"}],"interaction":{"identity":{"applicability":"required","items":["Vercy registry: vr.tr.mcleod-syndrome","Wikidata: Q966149 (https://www.wikidata.org/wiki/Q966149)"]},"properties":{"applicability":"not-applicable","items":["Diagnostic assertion status: suspected | established under cited guidance | unresolved | excluded under cited guidance; assessor and date","XK molecular evidence: linked laboratory report with reference assembly, transcript, variant or deletion, allelic state, classification and classification date","Kx and Kell expression: separate Kx and Kell results; present | reduced | absent | mixed population | indeterminate | untested; method and date","Acanthocyte assessment: percentage of erythrocytes, with preparation method, counting method, laboratory reference and date","Manifestation profile: neurological, psychiatric, cognitive, neuromuscular, cardiac and haematological domains: present | assessed absent | uncertain | unassessed","Onset and trajectory: age in years at first manifestation in each domain; dated observations and instrument-specific scores","Transfusion assessment status: not reviewed | specialist assessment pending | documented plan | reassessment required; linked antibody and compatibility reports","Terminology mapping: code system, edition or release, jurisdiction, code, preferred term, mapping relation and verification source"]},"recognition":{"applicability":"not-applicable","items":[]},"capabilities":{"applicability":"required","items":["Assemble a diagnostic evidence summary showing support, contradictions and missing assessments.","Compare McLeod syndrome with relevant differential diagnoses using molecular and blood group evidence.","Track organ-specific manifestations and functional change across dated observations.","Surface missing specialist transfusion planning before a proposed transfusion.","Prepare consent-aware genetics and family-assessment referrals.","Retrieve versioned clinical guidance and flag decisions requiring specialist interpretation."]},"hazards":{"applicability":"required","items":["Transfusion with incompatible blood can cause serious reactions.","Movement, muscle and heart problems progress over years."]},"interfaces":{"applicability":"required","items":["Red cell immunogenetics and blood group terminology, International Society of Blood Transfusion."]},"context":{"applicability":"required","items":["McLeod syndrome is encountered in specialist evaluation of inherited conditions involving neurological, muscular, cardiac and blood abnormalities.","The diagnosis informs coordination among genetics, neurology, cardiology and transfusion medicine services."]}},"sources":[{"title":"Wikidata item Q966149: McLeod syndrome","url":"https://www.wikidata.org/wiki/Q966149","note":"identity and sense of the item"},{"title":"Wikipedia: McLeod syndrome","url":"https://en.wikipedia.org/wiki/McLeod_syndrome","note":"general description of the item"}],"openQuestions":["Which current ICD-10 variants, ICD-11 entities and SNOMED CT releases provide exact or broader mappings for the syndrome, separately from its blood group phenotype?","What diagnostic guidance is currently authoritative, and how does it distinguish molecular status, isolated blood phenotype and clinically manifest disease?","What prevalence estimates have defensible population denominators, ascertainment methods and observation years, including evidence concerning heterozygous individuals?","Which longitudinal measures or staging approaches are validated specifically for McLeod syndrome, and what genotype-phenotype predictions remain unsupported?","What current specialist guidance supports surveillance intervals, transfusion planning and treatment choices, and where does practice rely primarily on limited observational evidence?"],"resources":{"spec":"/models/things/publications/thing-q966149/spec.json"},"provenance":{"origin":"thing registry research (pass 2)","builtFrom":["models/things/publications/thing-q966149/spec.json"],"providers":["Codex"],"researchStatus":"unreviewed","generatedAt":"2026-09-12T11:12:28Z","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":"not-applicable","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 2026-10-07T10:10:33+00:00: completeness 1.00; sense: Wikidata description; 2 live sources; review by codex: pass","interaction.properties":"Plane XCT: no invented physical properties.","interaction.recognition":"The syndrome has no distinctive outward appearance that reliably separates it from other disorders, so identification requires clinical and laboratory evidence."},"score":1.0}}