Cerebro-oculo-facio-skeletal syndrome   41283003

SNOMED CT code


SNOMED code41283003
nameCerebro-oculo-facio-skeletal syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Cerebro-oculo-facio-skeletal syndrome (disorder)
synonyms
  • CAMAK - Cerebro-oculo-facio-skeletal syndrome
  • CAMFAK - Cerebro-oculo-facio-skeletal syndrome
  • COFS - Cerebro-oculo-facio-skeletal syndrome
  • Pena-Shokeir syndrome type 2
  • Cerebro-oculo-facio-skeletal syndrome
  • COFS syndrome
attributes - group1
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteNervous system structure   25087005
parents
  • Multiple malformation syndrome with unusual brain and/or neuromuscular findings   64162006
  • Congenital anomaly of nervous system   88425004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Multiple malformation syndrome with unusual brain and/or neuromuscular findings   64162006
                Cerebro-oculo-facio-skeletal syndrome   41283003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Congenital anomaly of nervous system   88425004
            Cerebro-oculo-facio-skeletal syndrome   41283003

ancestors
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