46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency   783092005

SNOMED CT code


SNOMED code783092005
name46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency
statusactive
date introduced2019-07-31
fully specified name(s)46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency (disorder)
synonyms
  • 46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency
  • XY sex reversal adrenal failure
  • 46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency
attributes - group1
OccurrenceCongenital   255399007
Finding siteGenital structure   71934003
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group2
Finding siteAdrenal structure   23451007
parents
  • Autosomal hereditary disorder   1899006
  • Hypoadrenalism   237785004
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of endocrine system   363104002
  • Reproductive system hereditary disorder   363290007
  • 46,XY disorder of sex development   880094008
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency   783092005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Viscus structure finding   406123005
      Abdominal organ finding   249561001
        Disorder of adrenal gland   30171000
          Hypoadrenalism   237785004
            46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency   783092005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency   783092005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of endocrine system   362969004
          Hereditary disorder of endocrine system   363104002
            46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency   783092005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Hereditary disorder by system   363137000
          Reproductive system hereditary disorder   363290007
            46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency   783092005

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
              46,XY disorder of sex development   880094008
                46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency   783092005

ancestors
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