Oculopalatocerebral syndrome   722055008

SNOMED CT code


SNOMED code722055008
nameOculopalatocerebral syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Oculopalatocerebral syndrome (disorder)
synonyms
  • Oculopalatocerebral syndrome
  • Oculo-palato-cerebral syndrome
  • Oculo-palato-cerebral dwarfism
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding sitePalatal structure   72914001
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyCongenital smallness   41086002
Finding siteHead structure   69536005
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteStructure of primary vitreous   36805002
Associated morphologyPersistent embryonic structure   31807009
attributes - group4
Has interpretationBelow reference range   281300000
InterpretsBirth head circumference   169876006
attributes - group5
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group6
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Congenital microcephaly   1148758003
  • Congenital anomaly of palate   128336000
  • Persistent hyperplastic primary vitreous   314270008
  • Developmental hereditary disorder   363070008
  • Multiple system malformation syndrome   82354003
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Oculopalatocerebral syndrome   722055008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Body measurement finding   365605003
      Finding of head circumference   301338002
        Microcephaly   1148757008
          Congenital microcephaly   1148758003
            Oculopalatocerebral syndrome   722055008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of palate   128337009
          Congenital anomaly of palate   128336000
            Oculopalatocerebral syndrome   722055008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of embryonic structure   609521009
        Persistent hyperplastic primary vitreous   314270008
          Oculopalatocerebral syndrome   722055008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Oculopalatocerebral syndrome   722055008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Oculopalatocerebral syndrome   722055008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Oculopalatocerebral syndrome   722055008

ancestors
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