DK phocomelia syndrome   719021005

SNOMED CT code


SNOMED code719021005
nameDK phocomelia syndrome
statusactive
date introduced2017-01-31
fully specified name(s)DK phocomelia syndrome (disorder)
synonyms
  • DK phocomelia syndrome
  • Von Voss-Cherstvoy syndrome
  • Phocomelia, thrombocytopenia, encephalocele and urogenital malformation syndrome
attributes - group3
OccurrenceCongenital   255399007
Associated morphologyHernia   414403008
Finding siteBrain structure   12738006
attributes - group1
Finding siteUrogenital structure   21514008
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group4
Pathological processPathological developmental process   308490002
Associated morphologyDevelopmental failure of fusion   371520008
OccurrenceCongenital   255399007
Finding siteBone structure of cranium   89546000
attributes - group2
InterpretsHemostatic function   74848003
Has interpretationAbnormal   263654008
attributes - group5
Has interpretationBelow reference range   281300000
InterpretsPlatelet count   61928009
parents
  • Genitourinary congenital anomalies   287085006
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Hereditary disorder of nervous system   363235000
  • Multiple malformation syndrome with limb defect as major feature   41443008
  • Hereditary thrombocytopenic disorder   438492008
  • Encephalocele   55999004
  • Congenital thrombocytopenia   737221003
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of the genitourinary system   42030000
          Genitourinary congenital anomalies   287085006
            DK phocomelia syndrome   719021005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          DK phocomelia syndrome   719021005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          DK phocomelia syndrome   719021005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Hereditary disorder of nervous system   363235000
            DK phocomelia syndrome   719021005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Multiple malformation syndrome with limb defect as major feature   41443008
                DK phocomelia syndrome   719021005

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
              DK phocomelia syndrome   719021005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Finding of brain   299718000
        Disorder of brain   81308009
          Cerebral herniation   49453006
            Encephalocele   55999004
              DK phocomelia syndrome   719021005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital thrombocytopenia   737221003
          DK phocomelia syndrome   719021005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              DK phocomelia syndrome   719021005

ancestors
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