Agenesis of corpus callosum and abnormal genitalia syndrome   763797003

SNOMED CT code


SNOMED code763797003
nameAgenesis of corpus callosum and abnormal genitalia syndrome
statusactive
date introduced2018-07-31
fully specified name(s)Agenesis of corpus callosum and abnormal genitalia syndrome (disorder)
synonyms
  • Agenesis of corpus callosum and abnormal genitalia syndrome
  • Microcephaly, corpus callosum agenesis, abnormal genitalia syndrome
  • Proud syndrome
  • Proud Levine Carpenter syndrome
  • Corpus callosum agenesis, abnormal genitalia syndrome
attributes - group1
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteUrogenital structure   21514008
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyAgenesis   782173000
OccurrenceCongenital   255399007
Finding siteEntire corpus callosum   362354006
attributes - group3
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group4
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • X-linked recessive hereditary disease   1162976004
  • Genitourinary congenital anomalies   287085006
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of nervous system   363235000
  • Agenesis of corpus callosum   5102002
  • Multiple system malformation syndrome   82354003
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
          Agenesis of corpus callosum and abnormal genitalia syndrome   763797003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Sex-linked hereditary disorder   82852009
            X-linked hereditary disease   128430005
              X-linked recessive hereditary disease   1162976004
                Agenesis of corpus callosum and abnormal genitalia syndrome   763797003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of the genitourinary system   42030000
          Genitourinary congenital anomalies   287085006
            Agenesis of corpus callosum and abnormal genitalia syndrome   763797003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Agenesis of corpus callosum and abnormal genitalia syndrome   763797003

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
            Agenesis of corpus callosum and abnormal genitalia syndrome   763797003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of head and neck region   118254002
      Head finding   406122000
        Finding of head region   298364001
          Hemianencephaly   85641006
            Aplasia of corpus callosum   204044008
              Agenesis of corpus callosum   5102002
                Agenesis of corpus callosum and abnormal genitalia syndrome   763797003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Agenesis of corpus callosum and abnormal genitalia syndrome   763797003

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