3C syndrome   718556007

SNOMED CT code


SNOMED code718556007
name3C syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Cranio-cerebello-cardiac dysplasia syndrome (disorder)
synonyms
  • Craniocerebellocardiac dysplasia
  • Ritscher Schinzel syndrome
  • 3C syndrome
  • Cranio-cerebello-cardiac dysplasia syndrome
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteBrain structure   12738006
Associated morphologyMorphologically abnormal structure   49755003
attributes - group3
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteBone structure of head   272679001
attributes - group2
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteHeart structure   80891009
attributes - group4
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
parents
  • Congenital heart disease   13213009
  • Congenital abnormality of skull and face bones   268239009
  • Congenital anomaly of brain   57148006
  • Multiple malformation syndrome with facial defects as major feature   65094009
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
                3C syndrome   718556007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Congenital abnormality of skull and face bones   268239009
              3C syndrome   718556007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Disorder of head   118934005
          Disorder of brain   81308009
            Congenital anomaly of brain   57148006
              3C syndrome   718556007

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
                3C syndrome   718556007

ancestors
sorted most to least specific
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