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

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IDRF-VHL-CONFIRMED-CARRIER
TipoSinal de alerta
Estadoreviewed 2026-05-18 | pending_clinical_signoff
DoençasDIS-HCC DIS-PHEOCHROMOCYTOMA
FontesSRC-ASCO-ACMG-LYNCH-2014 SRC-NCCN-BCELL-2025

Origem da bandeira vermelha

DefiniçãoPatient 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).
Direcção clínicainvestigar
CategoriaOutros

Lógica de Desencadeamento

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

Notas

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.

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Algoritmos

Indicação

Sinal de alerta