46,XY disorder of sex development due to isolated 17,20-lyase deficiency   1231281009

SNOMED CT code


SNOMED code1231281009
name46,XY disorder of sex development due to isolated 17,20-lyase deficiency
statusactive
date introduced2022-06-30
fully specified name(s)46,XY disorder of sex development due to isolated 17,20-lyase deficiency (disorder)
synonyms46,XY disorder of sex development due to isolated 17,20-lyase deficiency
attributes - group2
Due to17 alpha-Hydroxyprogesterone aldolase deficiency   49013001
attributes - group1
OccurrenceCongenital   255399007
Finding siteGenital structure   71934003
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
parents
  • Developmental hereditary disorder   363070008
  • Reproductive system hereditary disorder   363290007
  • Autosomal recessive hereditary disorder   85995004
  • 46,XY disorder of sex development   880094008
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          46,XY disorder of sex development due to isolated 17,20-lyase deficiency   1231281009

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 due to isolated 17,20-lyase deficiency   1231281009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              46,XY disorder of sex development due to isolated 17,20-lyase deficiency   1231281009

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 due to isolated 17,20-lyase deficiency   1231281009

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