Hereditary thrombocytopenic disorder   438492008

SNOMED CT code


SNOMED code438492008
nameHereditary thrombocytopenic disorder
statusactive
date introduced2009-01-31
fully specified name(s)Hereditary thrombocytopenic disorder (disorder)
synonymsHereditary thrombocytopenic disorder
attributes - group3
Has interpretationAbnormal   263654008
InterpretsHemostatic function   74848003
attributes - group2
Finding siteBody system structure   91689009
attributes - group1
Has interpretationBelow reference range   281300000
InterpretsPlatelet count   61928009
parents
children
  • Autosomal dominant macrothrombocytopenia   720521008
  • Autosomal dominant thrombocytopenia with platelet secretion defect   1187252002
  • Bernard Soulier syndrome   54569005
  • Congenital autosomal recessive small-platelet thrombocytopenia   1208617001
  • Congenital dysmegakaryopoietic thrombocytopenia, Paris Trousseau type   441134009
  • DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome   1172604004
  • DK phocomelia syndrome   719021005
  • Fanconi's anemia   30575002
  • Hereditary thrombocytopenia with early-onset myelofibrosis   1172699002
  • Hereditary thrombocytopenia with normal platelets   783251006
  • Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome   1172685001
  • MYH9 macrothrombocytopenia syndrome   717769007  removed: 2022-06-30
  • Radial aplasia-thrombocytopenia syndrome   85589009
  • Severe autosomal recessive macrothrombocytopenia   1187614006
  • Thyrocerebrorenal syndrome   733096007
  • Wiskott-Aldrich syndrome   36070007
  • X-linked congenital dyserythropoietic anemia with thrombocytopenia   722475006
  • X-linked thrombocytopenia with normal platelets   1156838007
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Disorder of hemostatic system   362970003
        Platelet disorder   22716005
          Inherited platelet disorder   234469001
            Hereditary thrombocytopenic disorder   438492008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Disorder of hemostatic system   362970003
        Platelet disorder   22716005
          Thrombocytopenic disorder   302215000
            Hereditary thrombocytopenic disorder   438492008

ancestors
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