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Coverage / Disease packs

Disease knowledge packs

What each pack contains, and what Cense looks for in each of the ten diseases at launch.

Anatomy of a pack

What a pack contains

  1. 1 Definition and epidemiologyBy region, with the source of every figure.
  2. 2 Clinical pattern matrixTypical and atypical features, coded in HPO.
  3. 3 Red-flag rulesSpecialist-written combinations that should always be flagged.
  4. 4 Lab and imaging patternsMapped to LOINC; report findings as text, not raw images.
  5. 5 Differential tableLook-alikes and the findings that separate them.
  6. 6 Confirmation pathwayScreening and confirmatory tests, reference standard flagged.
  7. 7 Referral directoryCenters and specialties by region.
  8. 8 Evidence libraryGraded source passages behind every statement.
  9. 9 Example casesDe-identified, for physician learning; separate from the evaluation set.
At launch · 2027

The first ten packs

Summaries of pack scope. In the app, every statement is graded and cited; nothing here replaces clinical judgment.
Neurology Pack MG · at launch

Myasthenia gravis

Clinical pattern
Fluctuating, fatigable weakness of ocular, bulbar or limb muscles; ptosis and double vision that worsen as the day goes on.
Confirmation pathway
Acetylcholine receptor antibodies; MuSK and LRP4 antibodies if seronegative; repetitive nerve stimulation or single-fibre EMG; chest imaging for thymoma.
Differential considered
Lambert–Eaton syndrome, botulism, mitochondrial ophthalmoplegia, thyroid eye disease, brainstem lesions.
Primary source · International consensus guidance for myasthenia gravis
Neurology Pack NMO · at launch

Neuromyelitis optica spectrum disorder

Clinical pattern
Severe or bilateral optic neuritis, longitudinally extensive myelitis, or area postrema syndrome with intractable hiccups or vomiting.
Confirmation pathway
AQP4-IgG by cell-based assay; MOG-IgG; MRI of brain, orbits and spine.
Differential considered
Multiple sclerosis, MOG antibody–associated disease, neurosarcoidosis, infectious or vascular myelopathy.
Primary source · International consensus diagnostic criteria for NMOSD (2015)
Neurology Pack MS · at launch

Multiple sclerosis

Clinical pattern
Episodes of neurological dysfunction disseminated in space and time, such as optic neuritis, partial myelitis or brainstem syndromes.
Confirmation pathway
MRI of brain and spine; CSF oligoclonal bands; visual evoked potentials where useful.
Differential considered
NMOSD, MOG antibody–associated disease, small-vessel disease, vitamin B12 deficiency, CNS vasculitis.
Primary source · McDonald diagnostic criteria
Neurology Pack SMA · at launch

Spinal muscular atrophy

Clinical pattern
Symmetric proximal weakness, hypotonia, absent reflexes and tongue fasciculations, with normal cognition.
Confirmation pathway
SMN1 deletion testing and SMN2 copy number; newborn screening result where available.
Differential considered
Congenital myopathies and dystrophies, other motor neuron disorders, other causes of infant hypotonia.
Primary source · International standards of care for SMA (2017)
Rheumatology Pack AAV · at launch

ANCA-associated vasculitis

Clinical pattern
Multisystem inflammation: chronic sinus or ear disease, lung nodules or hemorrhage, rapidly progressive glomerulonephritis, mononeuritis multiplex.
Confirmation pathway
PR3- and MPO-ANCA by immunoassay; urinalysis with microscopy and creatinine; chest CT; tissue biopsy.
Differential considered
Anti-GBM disease, endocarditis and other infections, IgA vasculitis, lupus.
Primary source · 2022 ACR/EULAR classification criteria
Hematology Pack HEM · at launch

Hemophilia

Clinical pattern
Spontaneous or prolonged bleeding, joint and muscle bleeds, bleeding after procedures, affected males on the maternal side.
Confirmation pathway
Prolonged aPTT with normal PT; factor VIII and IX activity; mixing study and inhibitor testing.
Differential considered
Von Willebrand disease, acquired hemophilia, other factor deficiencies, platelet function disorders.
Primary source · WFH Guidelines for the Management of Hemophilia (2020)
Hematology Pack PNH · at launch

Paroxysmal nocturnal hemoglobinuria

Clinical pattern
Coombs-negative hemolysis, dark urine, thrombosis at unusual sites, cytopenias or marrow failure.
Confirmation pathway
High-sensitivity flow cytometry for GPI-anchored proteins; LDH, haptoglobin and reticulocytes; direct antiglobulin test.
Differential considered
Autoimmune hemolytic anemia, aplastic anemia, myelodysplastic syndrome, thrombotic microangiopathy.
Primary source · ICCS guidelines for PNH flow cytometry
Cardiopulmonary Pack PAH · at launch

Idiopathic pulmonary arterial hypertension

Clinical pattern
Unexplained exertional breathlessness, fatigue or syncope, with signs of right heart strain on echocardiography.
Confirmation pathway
Echocardiography; right heart catheterization (mPAP > 20 mmHg, PAWP ≤ 15 mmHg, PVR > 2 WU); V/Q scan to exclude CTEPH.
Differential considered
Left heart disease, chronic lung disease, CTEPH, PAH associated with connective tissue disease.
Primary source · 2022 ESC/ERS pulmonary hypertension guidelines
Metabolic and genetic Pack WD · at launch

Wilson disease

Clinical pattern
Unexplained liver disease or neuropsychiatric symptoms in a young person; Kayser–Fleischer rings; Coombs-negative hemolysis.
Confirmation pathway
Serum ceruloplasmin; 24-hour urinary copper; slit-lamp examination; ATP7B genetic testing or liver copper content.
Differential considered
Autoimmune hepatitis, metabolic dysfunction–associated liver disease, other young-onset movement disorders.
Primary source · AASLD practice guidance on Wilson disease (2022)
Metabolic and genetic Pack FD · at launch

Fabry disease

Clinical pattern
Burning pain in hands and feet, angiokeratomas, reduced sweating, proteinuria, unexplained left ventricular hypertrophy or early stroke.
Confirmation pathway
Alpha-galactosidase A activity in males; GLA genetic testing, essential in females; plasma lyso-Gb3.
Differential considered
Sarcomeric hypertrophic cardiomyopathy, cardiac amyloidosis, rheumatological pain syndromes, other causes of kidney disease.
Primary source · International expert consensus statements
In development · 2027 H2 to 2028

Eighteen more packs

Each follows the same nine-part structure and must pass the same release gates before it goes live.

Neurology Amyotrophic lateral sclerosis Autoimmune encephalitis Duchenne muscular dystrophy Pompe disease
Rheumatology and immunology Systemic sclerosis Hereditary angioedema
Hematology Gaucher disease Langerhans cell histiocytosis
Cardiopulmonary Idiopathic pulmonary fibrosis Transthyretin amyloidosis
Metabolic and genetic Methylmalonic acidemia Phenylketonuria Congenital adrenal hyperplasia Gitelman syndrome X-linked hypophosphatemia
Pediatric and endocrine Tuberous sclerosis complex Osteogenesis imperfecta Acromegaly

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