Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome   721882001

SNOMED CT code


SNOMED code721882001
nameRadioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder)
synonyms
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
  • ATRUS syndrome
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyCongenital abnormal fusion   37764001
OccurrenceCongenital   255399007
Finding siteBone structure of radius   62413002
attributes - group2
Has interpretationAbnormal   263654008
InterpretsHemostatic function   74848003
attributes - group3
Associated morphologyCongenital abnormal fusion   37764001
Finding siteBone structure of ulna   23416004
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
attributes - group4
Has interpretationBelow reference range   281300000
InterpretsPlatelet count   61928009
parents
  • Autosomal dominant hereditary disorder   11164009
  • Congenital radioulnar synostosis   1268409009
  • Inherited platelet disorder   234469001
  • Amegakaryocytic thrombocytopenia with congenital malformation   359531004
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome   721882001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Finding of upper limb   116307009
        Finding of bone of upper limb   298756009
          Failure of differentiation of bones of forearm   253917003
            Congenital radioulnar synostosis   1268409009
              Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome   721882001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Disorder of hemostatic system   362970003
        Platelet disorder   22716005
          Inherited platelet disorder   234469001
            Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome   721882001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital thrombocytopenia   737221003
          Amegakaryocytic thrombocytopenia with congenital malformation   359531004
            Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome   721882001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome   721882001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome   721882001

ancestors
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