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
    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
      Disorder of head   118934005
        Congenital anomaly of head   87290003
          Congenital abnormality of skull and face bones   268239009
            3C syndrome   718556007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Disorder of the central nervous system   23853001
        Congenital anomaly of central nervous system   128124001
          Congenital anomaly of brain   57148006
            3C syndrome   718556007

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
              3C syndrome   718556007

ancestors
sorted most to least specific
cpt crosswalks

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