Microcephalus, hypergonadotropic hypogonadism, short stature syndrome   733092009

SNOMED CT code


SNOMED code733092009
nameMicrocephalus, hypergonadotropic hypogonadism, short stature syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
synonyms
  • Mikati Najjar Sahli syndrome
  • Microcephalus, hypergonadotropic hypogonadism, short stature syndrome
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteHead structure   69536005
Associated morphologyCongenital smallness   41086002
attributes - group4
InterpretsHeight / growth measure   271603002
Has interpretationBelow reference range   281300000
attributes - group2
Has interpretationBelow reference range   281300000
InterpretsBirth head circumference   169876006
attributes - group5
Finding siteGonadal endocrine structure   304041004
parents
  • Congenital microcephaly   1148758003
  • Short stature disorder   237836003
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of endocrine system   363104002
  • Reproductive system hereditary disorder   363290007
  • Primary hypogonadism   370999003
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Body measurement finding   365605003
      Finding of head circumference   301338002
        Microcephaly   1148757008
          Congenital microcephaly   1148758003
            Microcephalus, hypergonadotropic hypogonadism, short stature syndrome   733092009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of general physiological development   271616002
      Disorder of stature   237834000
        Short stature disorder   237836003
          Microcephalus, hypergonadotropic hypogonadism, short stature syndrome   733092009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Microcephalus, hypergonadotropic hypogonadism, short stature syndrome   733092009

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
            Microcephalus, hypergonadotropic hypogonadism, short stature syndrome   733092009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Hereditary disorder by system   363137000
          Reproductive system hereditary disorder   363290007
            Microcephalus, hypergonadotropic hypogonadism, short stature syndrome   733092009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of endocrine system   362969004
          Disorder of endocrine gonad   127345001
            Hypogonadism   48130008
              Primary hypogonadism   370999003
                Microcephalus, hypergonadotropic hypogonadism, short stature syndrome   733092009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of face   118930001
          Congenital anomaly of face   398302004
            Multiple malformation syndrome with facial defects as major feature   65094009
              Microcephalus, hypergonadotropic hypogonadism, short stature syndrome   733092009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Microcephalus, hypergonadotropic hypogonadism, short stature syndrome   733092009

ancestors
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