46,XX disorder of sex development with skeletal anomalies syndrome   733621007

SNOMED CT code


SNOMED code733621007
name46,XX disorder of sex development with skeletal anomalies syndrome
statusactive
date introduced2017-07-31
fully specified name(s)46,XX disorder of sex development with skeletal anomalies syndrome (disorder)
synonyms
  • 46,XX disorder of sex development with skeletal anomalies syndrome
  • Female pseudohermaphroditism with skeletal anomalies syndrome
attributes - group2
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteBone structure   272673000
attributes - group1
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
Finding siteExternal genitalia structure   77142006
parents
  • Ambiguous genitalia   21321009
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Reproductive system hereditary disorder   363290007
  • Pseudohermaphroditism   75164001
  • Multiple system malformation syndrome   82354003
  • Congenital anomaly of skeletal bone   8447006
  • Autosomal recessive hereditary disorder   85995004
  • 46,XX disorder of sex development   890460004
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
            Ambiguous genitalia   21321009
              46,XX disorder of sex development with skeletal anomalies syndrome   733621007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          46,XX disorder of sex development with skeletal anomalies syndrome   733621007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          46,XX disorder of sex development with skeletal anomalies syndrome   733621007

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,XX disorder of sex development with skeletal anomalies syndrome   733621007

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
              Pseudohermaphroditism   75164001
                46,XX disorder of sex development with skeletal anomalies syndrome   733621007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              46,XX disorder of sex development with skeletal anomalies syndrome   733621007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            46,XX disorder of sex development with skeletal anomalies syndrome   733621007

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,XX disorder of sex development with skeletal anomalies syndrome   733621007

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,XX disorder of sex development   890460004
                46,XX disorder of sex development with skeletal anomalies syndrome   733621007

ancestors
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