White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome   783703004

SNOMED CT code


SNOMED code783703004
nameWhite matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
statusactive
date introduced2019-07-31
fully specified name(s)White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome (disorder)
synonyms
  • Curatolo Cilio Pessagno syndrome
  • White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
attributes - group3
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyHypoplasia   55199003
Finding siteCerebellar white matter structure   33060004
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteFace structure   89545001
Associated morphologyMorphologically abnormal structure   49755003
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteCorpus callosum structure   88442005
Associated morphologyMaturation defect   41010001
attributes - group4
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group5
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Congenital cerebellar hypoplasia   16026008
  • Congenital malformation of corpus callosum   204042007
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Genetic disease   782964007
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
          White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome   783703004

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
                White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome   783703004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of head and neck region   118254002
      Head finding   406122000
        Finding of head region   298364001
          Leukoencephalopathy   22811006
            Congenital malformation of corpus callosum   204042007
              White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome   783703004

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
              White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome   783703004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome   783703004

ancestors
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