Onco Wiki / drapeau rouge

Patient has a confirmed germline VHL pathogenic variant (positive germline test result, d...

Vue déterministe de l'entité source de la LJAM. L'autorité clinique demeure avec les ID de la source cités et l'état d'approbation de l ́examinateur.

IDRF-VHL-CONFIRMED-CARRIER
TypeSignal d’alerte
Étatreviewed 2026-05-18 | pending_clinical_signoff
MaladiesDIS-HCC DIS-PHEOCHROMOCYTOMA
SourcesSRC-ASCO-ACMG-LYNCH-2014 SRC-NCCN-BCELL-2025

Origine du drapeau rouge

DéfinitionPatient has a confirmed germline VHL pathogenic variant (positive germline test result, distinct from the pedigree-suspicion phase). VHL Alliance Active Surveillance Guidelines apply: structured multi-organ imaging + biochemical surveillance from childhood. Confirmed-carrier RedFlag (§20, v0.2-B follow-on to RF-VHL-FAMILY-HISTORY-SUSPICION).
Direction cliniqueenquêter
Catégorieautres

Logique de déclenchement

{
  "any_of": [
    {
      "finding": "germline_vhl_pathogenic_variant_confirmed",
      "value": true
    }
  ],
  "type": "lab_value"
}

Notes

Prevention-persona confirmed-carrier RedFlag for VHL syndrome. Fires when patient profile has germline_vhl_pathogenic_variant_confirmed=true. Engine routes to PreventionPlan recommending VHL Alliance Active Surveillance protocol: MRI brain+spine q1y from age 15-16; MRI abdomen (kidneys+adrenals+pancreas) q1-2y from 15; ophthalmology q1y from age 1-5; catecholamines/metanephrines q1y from age 5-10; comprehensive audiology q2-3y. Diseases-anchored to DIS-HCC (closest in-KB hepatobiliary anchor since DIS-RCC may not be in this branch) and DIS-PHEOCHROMOCYTOMA (newly authored). STUB pending two-Clinical-Co-Lead signoff per CHARTER §6.1 dev-mode.

Utilisé par

Algorithmes

Indication

Signal d’alerte