3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency   57514000

SNOMED CT code


SNOMED code57514000
name3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
statusactive
date introduced2002-01-31
fully specified name(s)3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder)
synonyms
  • Steroid 5-alpha-reductase deficiency
  • 5-alpha reductase deficiency
  • 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
  • Steroid 5a-reductase deficiency
attributes - group2
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
Finding siteExternal genitalia structure   77142006
attributes - group1
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
Finding sitePart of male urethra   425046005
parents
  • Male pseudohermaphroditism   111332007
  • Congenital anomaly of urethra   13806003
  • Developmental hereditary disorder   363070008
  • Reproductive system hereditary disorder   363290007
  • Hereditary disorder of the urinary system   363338001
  • Congenital anomaly of male urogenital tract   428522008
  • Enzymopathy   78548001
  • Autosomal recessive hereditary disorder   85995004
  • Inborn error of metabolism   86095007
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of trunk structure   302292003
      Finding of abdominopelvic segment of trunk   822987005
        Finding of pelvic region of trunk   609625009
          Disorder of pelvic region of trunk   609619005
            Male pseudohermaphroditism   111332007
              3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency   57514000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of the genitourinary system   42030000
          Disorder of the urinary system   128606002
            Congenital malformation of the urinary system   253859003
              Congenital anomaly of the urinary tract proper   118642009
                Congenital anomaly of urethra   13806003
                  3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency   57514000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency   57514000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Hereditary disorder by system   363137000
          Reproductive system hereditary disorder   363290007
            3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency   57514000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Hereditary disorder by system   363137000
          Hereditary disorder of the urinary system   363338001
            3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency   57514000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of the genitourinary system   42030000
          Genitourinary congenital anomalies   287085006
            Congenital anomaly of male urogenital tract   428522008
              3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency   57514000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Enzymopathy   78548001
          3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency   57514000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency   57514000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency   57514000

ancestors
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