Thrombocythemia with distal limb defect   771511005

SNOMED CT code


SNOMED code771511005
nameThrombocythemia with distal limb defect
statusactive
date introduced2019-01-31
fully specified name(s)Thrombocythemia with distal limb defect (disorder)
synonyms
  • Familial thrombocytosis with transverse limb defect
  • Thrombocythemia with distal limb defect
  • Hereditary thrombocytosis with transverse limb defect
  • Thrombocythaemia with distal limb defect
attributes - group3
OccurrenceCongenital   255399007
Finding siteBone structure of extremity   48566001
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
attributes - group2
OccurrenceCongenital   255399007
Finding siteEntire spleen   181279003
Pathological processPathological developmental process   308490002
Associated morphologyEnlargement   442021009
attributes - group1
Has interpretationAbove reference range   281302008
InterpretsPlatelet count   61928009
attributes - group4
InterpretsHemostatic function   74848003
Has interpretationAbnormal   263654008
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Dysostosis   109420003
              Thrombocythemia with distal limb defect   771511005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Thrombocythemia with distal limb defect   771511005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Disorder of hemostatic system   362970003
        Platelet disorder   22716005
          Inherited platelet disorder   234469001
            Thrombocythemia with distal limb defect   771511005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of blood, lymphatics and immune system   299691001
      Spleen finding   249571004
        Thrombocythemia with distal limb defect   771511005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Thrombocythemia with distal limb defect   771511005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Thrombocythemia with distal limb defect   771511005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Viscus structure finding   406123005
      Abdominal organ finding   249561001
        Disorder of spleen   51244008
          Splenomegaly   16294009
            Congenital splenomegaly   36752001
              Thrombocythemia with distal limb defect   771511005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Disorder of hemostatic system   362970003
        Platelet disorder   22716005
          Thrombocytosis   6631009
            Thrombocythemia with distal limb defect   771511005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Congenital anomaly of limb   60475009
          Congenital dysplasia of limb   88631000119105
            Thrombocythemia with distal limb defect   771511005

ancestors
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