X-linked lissencephaly with abnormal genitalia syndrome   717632002

SNOMED CT code


SNOMED code717632002
nameX-linked lissencephaly with abnormal genitalia syndrome
statusactive
date introduced2016-07-31
fully specified name(s)X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder)
synonyms
  • X-linked lissencephaly with abnormal genitalia syndrome
  • X-linked lissencephaly with ambiguous genitalia
  • X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome
attributes - group1
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteGenital structure   71934003
Pathological processPathological developmental process   308490002
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteEntire corpus callosum   362354006
Associated morphologyAgenesis   782173000
parents
  • X-linked recessive hereditary disease   1162976004
  • Lissencephaly   204036008
  • Congenital malformation of genital organs   204821009
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of nervous system   363235000
  • Reproductive system hereditary disorder   363290007
  • Agenesis of corpus callosum   5102002
hierarchies
a selection of possible paths
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
                X-linked lissencephaly with abnormal genitalia syndrome   717632002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Disorder of the central nervous system   23853001
        Congenital anomaly of central nervous system   128124001
          Disorder of neuronal migration and differentiation   253146009
            Lissencephaly   204036008
              X-linked lissencephaly with abnormal genitalia syndrome   717632002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of trunk structure   302292003
      Finding of abdominopelvic segment of trunk   822987005
        Urogenital finding   118238000
          Genital finding   300479008
            Congenital malformation of genital organs   204821009
              X-linked lissencephaly with abnormal genitalia syndrome   717632002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          X-linked lissencephaly with abnormal genitalia syndrome   717632002

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
            X-linked lissencephaly with abnormal genitalia syndrome   717632002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Hereditary disorder by system   363137000
          Reproductive system hereditary disorder   363290007
            X-linked lissencephaly with abnormal genitalia syndrome   717632002

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
                X-linked lissencephaly with abnormal genitalia syndrome   717632002

ancestors
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