Beemer Ertbruggen syndrome   717859007

SNOMED CT code


SNOMED code717859007
nameBeemer Ertbruggen syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
synonyms
  • Hydrocephalus, cardiac malformation, dense bone syndrome
  • Beemer Ertbruggen syndrome
  • Beemer lethal malformation syndrome
attributes - group1
Finding siteFace structure   89545001
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyDilatation   25322007
OccurrenceCongenital   255399007
Finding siteBrain cerebrospinal fluid pathway   280371009
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteHeart structure   80891009
parents
  • Congenital heart disease   13213009
  • Cardiovascular system hereditary disorder   363005004
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of nervous system   363235000
  • Congenital hydrocephalus   47032000
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Cardiac finding   301095005
        Heart disease   56265001
          Structural disorder of heart   128599005
            Congenital heart disease   13213009
              Beemer Ertbruggen syndrome   717859007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Disorder of cardiovascular system   49601007
        Cardiovascular system hereditary disorder   363005004
          Beemer Ertbruggen syndrome   717859007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Beemer Ertbruggen syndrome   717859007

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
            Beemer Ertbruggen syndrome   717859007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Finding of brain   299718000
        Disorder of brain   81308009
          Hydrocephalus   230745008
            Congenital hydrocephalus   47032000
              Beemer Ertbruggen syndrome   717859007

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
              Beemer Ertbruggen syndrome   717859007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Beemer Ertbruggen syndrome   717859007

ancestors
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