Oral-facial-digital syndrome   52868006

SNOMED CT code


SNOMED code52868006
nameOral-facial-digital syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Oral-facial-digital syndrome (disorder)
synonyms
  • Orofacial-digital syndrome
  • Oral-facial-digital syndrome
  • Orodigitofacial dysostosis
attributes - group3
Finding siteDigit structure   82680008
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteStructure of internal part of mouth   700016008
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteFace structure   89545001
OccurrenceCongenital   255399007
attributes - group4
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
OccurrenceCongenital   255399007
Finding siteEctoderm structure   63206006
attributes - group5
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
Finding siteSkin structure   39937001
OccurrenceCongenital   255399007
parents
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Congenital abnormality of oral cavity   282041002
  • Congenital anomaly of digit   403855001
  • Genetic disease   782964007
  • Ectodermal dysplasia   8654005
children
  • Joubert syndrome with orofaciodigital defect   721873007
  • Mohr syndrome   1779005
  • Oral-facial-digital syndrome with short stature and brachymesophalangia   1177179002
  • Oro-facial digital syndrome type 1   763833006
  • Oro-facial digital syndrome type 10   722075004
  • Oro-facial digital syndrome type 11   718681002
  • Oro-facial digital syndrome type 12   763834000
  • Oro-facial digital syndrome type 13   763835004
  • Oro-facial digital syndrome type 14   763837007
  • Oro-facial digital syndrome type 5   722105002
  • Oro-facial digital syndrome type 8   722106001
  • Oro-facial digital syndrome type 9   718680001
  • Orofacial-digital syndrome III   239030004
  • Orofacial-digital syndrome IV   239031000
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Congenital anomaly of limb   60475009
          Multiple malformation syndrome with facial-limb defects as major feature   23359005
            Oral-facial-digital syndrome   52868006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Finding of mouth region   423066003
        Oral cavity finding   116337000
          Congenital abnormality of oral cavity   282041002
            Oral-facial-digital syndrome   52868006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Disorder of digit   128597007
          Congenital anomaly of digit   403855001
            Oral-facial-digital syndrome   52868006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Oral-facial-digital syndrome   52868006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of embryonic structure   609521009
        Congenital ectodermal defect   254154003
          Ectodermal dysplasia   8654005
            Oral-facial-digital syndrome   52868006

ancestors
sorted most to least specific
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