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
Pathological processPathological developmental process   308490002
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
  • 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
    Finding by site   118234003
      Disorder by body site   123946008
        Congenital abnormality of lower limb and pelvic girdle   253937004
          Congenital anomaly of lower trunk   363030001
            Genitourinary congenital anomalies   287085006
              DK phocomelia syndrome   719021005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      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
    Finding by site   118234003
      Disorder by body site   123946008
        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
    Evaluation finding   441742003
      Hematopoietic system finding   106200001
        Thrombocytopenic disorder   302215000
          Hereditary thrombocytopenic disorder   438492008
            DK phocomelia syndrome   719021005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Disorder of head   118934005
          Disorder of skull   118945008
            Congenital anomaly of skull   51655004
              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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