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
  • 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
    Finding by site   118234003
      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
    Finding by site   118234003
      Cardiovascular finding   106063007
        Disorder of cardiovascular system   49601007
          Cardiovascular system hereditary disorder   363005004
            Beemer Ertbruggen syndrome   717859007

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
              Beemer Ertbruggen syndrome   717859007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Disorder of head   118934005
          Disorder of brain   81308009
            Hydrocephalus   230745008
              Congenital hydrocephalus   47032000
                Beemer Ertbruggen syndrome   717859007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        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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