Cerebellar-facial-dental syndrome   1237475006

SNOMED CT code


SNOMED code1237475006
nameCerebellar-facial-dental syndrome
statusactive
date introduced2022-09-30
fully specified name(s)Cerebellar-facial-dental syndrome (disorder)
synonyms
  • Cerebellofaciodental syndrome
  • Cerebellar-facial-dental syndrome
attributes - group1
OccurrenceCongenital   255399007
Finding siteTooth structure   38199008
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group2
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group3
OccurrenceCongenital   255399007
Finding siteCerebellar structure   113305005
Associated morphologyHypoplasia   55199003
Pathological processPathological developmental process   308490002
attributes - group5
InterpretsBirth head circumference   169876006
Has interpretationBelow reference range   281300000
attributes - group4
OccurrenceCongenital   255399007
Finding siteHead structure   69536005
Associated morphologyCongenital smallness   41086002
Pathological processPathological developmental process   308490002
parents
  • Congenital microcephaly   1148758003
  • Hereditary disorder of tooth   1148766007
  • Congenital cerebellar hypoplasia   16026008
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of nervous system   363235000
  • Congenital anomaly of tooth   422977003
  • 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
    Body measurement finding   365605003
      Finding of head circumference   301338002
        Microcephaly   1148757008
          Congenital microcephaly   1148758003
            Cerebellar-facial-dental syndrome   1237475006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Disorder of digestive system   53619000
        Digestive system hereditary disorder   363080007
          Hereditary disorder of tooth   1148766007
            Cerebellar-facial-dental syndrome   1237475006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Finding of brain   299718000
        Disorder of brain   81308009
          Cerebellar disorder   223176004
            Dysgenesis of the cerebellum   253171007
              Congenital cerebellar hypoplasia   16026008
                Cerebellar-facial-dental syndrome   1237475006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Cerebellar-facial-dental syndrome   1237475006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Hereditary disorder of nervous system   363235000
            Cerebellar-facial-dental syndrome   1237475006

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
            Congenital anomaly of tooth   422977003
              Cerebellar-facial-dental syndrome   1237475006

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
              Cerebellar-facial-dental syndrome   1237475006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Cerebellar-facial-dental syndrome   1237475006

ancestors
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