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Capillary-lymphatic-venous malformation with segmental distribution

ORPHA:90308 · Disease · Disorder

HPO 表現型（共 31 項）

Very frequent (99-80%)(5)

  • Abnormal skeletal morphologyHP:0011842
  • HemangiomaHP:0001028
  • Lower limb asymmetryHP:0100559
  • Upper limb asymmetryHP:0100560
  • Venous insufficiencyHP:0005293

Frequent (79-30%)(5)

  • CellulitisHP:0100658
  • Gastrointestinal hemorrhageHP:0002239
  • Pulmonary embolismHP:0002204
  • Tall statureHP:0000098
  • Venous thrombosisHP:0004936

Occasional (29-5%)(21)

  • Abnormal skull morphologyHP:0000929
  • Abnormal tricuspid valve morphologyHP:0001702
  • Abnormality of the menstrual cycleHP:0000140
  • Abnormality of the pulmonary arteryHP:0004414
  • AscitesHP:0001541
  • Atrial septal defectHP:0001631
  • Congestive heart failureHP:0001635
  • EdemaHP:0000969
  • HematuriaHP:0000790
  • HepatomegalyHP:0002240
  • Hydrops fetalisHP:0001789
  • HypercoagulabilityHP:0100724
  • Intellectual disabilityHP:0001249
  • Internal hemorrhageHP:0011029
  • MacrocephalyHP:0000256
  • MicrocephalyHP:0000252
  • Microcytic anemiaHP:0001935
  • Patent ductus arteriosusHP:0001643
  • Peripheral arteriovenous fistulaHP:0100784
  • Prolonged bleeding timeHP:0003010
  • Respiratory insufficiencyHP:0002093