Shprintzen Goldberg omphalocele syndrome   716230005

SNOMED CT code


SNOMED code716230005
nameShprintzen Goldberg omphalocele syndrome
statusactive
date introduced2016-07-31
fully specified name(s)Shprintzen Goldberg omphalocele syndrome (disorder)
synonyms
  • Shprintzen Goldberg omphalocele syndrome
  • Omphalocele syndrome Shprintzen Goldberg type
attributes - group1
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
Finding siteFace structure   89545001
Pathological processPathological developmental process   308490002
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyHernial opening   414402003
Finding siteUmbilical structure   78220002
attributes - group3
Associated morphologyHernia   414403008
OccurrenceCongenital   255399007
Finding siteIntra-abdominopelvic structure   818986006
parents
  • Autosomal dominant hereditary disorder   11164009
  • Congenital omphalocele   18735004
  • Developmental hereditary disorder   363070008
  • Multiple malformation syndrome with facial defects as major feature   65094009
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
              Shprintzen Goldberg omphalocele syndrome   716230005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    General finding of soft tissue   248402002
      Umbilicus finding   249537008
        Disorder of umbilicus   397320006
          Umbilical hernia   396347007
            Congenital omphalocele   18735004
              Shprintzen Goldberg omphalocele syndrome   716230005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Shprintzen Goldberg omphalocele syndrome   716230005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of face   118930001
          Congenital anomaly of face   398302004
            Multiple malformation syndrome with facial defects as major feature   65094009
              Shprintzen Goldberg omphalocele syndrome   716230005

ancestors
sorted most to least specific
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