Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome   1254650002

SNOMED CT code


SNOMED code1254650002
nameMicrocephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
statusactive
date introduced2022-10-31
fully specified name(s)Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder)
synonymsMicrocephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
attributes - group3
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group4
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
attributes - group1
OccurrenceCongenital   255399007
Finding siteCorpus callosum structure   88442005
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
parents
  • Intellectual disability   110359009
  • Autosomal dominant hereditary disorder   11164009
  • Congenital malformation of corpus callosum   204042007
  • Developmental delay   248290002
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of nervous system   363235000
  • Multiple malformation syndrome with facial defects as major feature   65094009
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
          Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome   1254650002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome   1254650002

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
              Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome   1254650002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental delay   248290002
          Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome   1254650002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome   1254650002

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
            Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome   1254650002

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
              Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome   1254650002

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