Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome   722459008

SNOMED CT code


SNOMED code722459008
nameMale hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
synonyms
  • Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
  • Sohval Soffer syndrome
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteBone structure   272673000
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteTesticular endocrine structure   304042006
attributes - group4
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group5
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
attributes - group2
Has interpretationDecreased   1250004
InterpretsHormone production   35188005
parents
  • Intellectual disability   110359009
  • X-linked hereditary disease   128430005
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of endocrine system   363104002
  • Hereditary disorder of musculoskeletal system   363212003
  • Reproductive system hereditary disorder   363290007
  • Primary testicular failure   370997001
  • Multiple system malformation syndrome   82354003
  • Congenital anomaly of skeletal bone   8447006
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome   722459008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Sex-linked hereditary disorder   82852009
            X-linked hereditary disease   128430005
              Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome   722459008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome   722459008

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
            Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome   722459008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome   722459008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Hereditary disorder by system   363137000
          Reproductive system hereditary disorder   363290007
            Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome   722459008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Endocrine finding   106176003
      Decreased hormone production   2149006
        Testicular hypofunction   111551000
          Primary testicular failure   370997001
            Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome   722459008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome   722459008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome   722459008

ancestors
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