46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome   783091003

SNOMED CT code


SNOMED code783091003
name46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
statusactive
date introduced2019-07-31
fully specified name(s)46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome (disorder)
synonyms46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteGonadal structure   43174007
attributes - group2
Finding sitePeripheral nerve structure   84782009
parents
  • Gonadal dysgenesis   205681004
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of nervous system   363235000
  • Reproductive system hereditary disorder   363290007
  • Mixed sensory-motor polyneuropathy   3900008
  • Autosomal recessive hereditary disorder   85995004
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
        Urogenital finding   118238000
          Genital finding   300479008
            Congenital malformation of genital organs   204821009
              Gonadal dysgenesis   205681004
                46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome   783091003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome   783091003

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
            46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome   783091003

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 gonadal dysgenesis, motor and sensory neuropathy syndrome   783091003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    General finding of soft tissue   248402002
      Disorder of soft tissue   19660004
        Peripheral nerve disease   302226006
          Polyneuropathy   42345000
            Sensory polyneuropathy   13694005
              Mixed sensory-motor polyneuropathy   3900008
                46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome   783091003

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 gonadal dysgenesis, motor and sensory neuropathy syndrome   783091003

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