Short stature with webbed neck and congenital heart disease syndrome   721073008

SNOMED CT code


SNOMED code721073008
nameShort stature with webbed neck and congenital heart disease syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Short stature with webbed neck and congenital heart disease syndrome (disorder)
synonyms
  • Al Gazali Aziz Salem syndrome
  • Short stature with webbed neck and congenital heart disease syndrome
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteHeart structure   80891009
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteFace structure   89545001
attributes - group3
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyCongenital webbing   76640006
Finding siteSkin structure of neck   43081002
parents
  • Intellectual disability   110359009
  • Neck webbing   11731003
  • Congenital heart disease   13213009
  • Short stature disorder   237836003
  • Cardiovascular system hereditary disorder   363005004
  • Hereditary disorder of the integument   363185004
  • Multiple malformation syndrome with facial defects as major feature   65094009
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Mental disorder   74732009
        Developmental mental disorder   129104009
          Intellectual disability   110359009
            Short stature with webbed neck and congenital heart disease syndrome   721073008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Disorder of neck   118939000
          Congenital anomaly of neck   40052002
            Neck webbing   11731003
              Short stature with webbed neck and congenital heart disease syndrome   721073008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Cardiovascular finding   106063007
        Cardiac finding   301095005
          Heart disease   56265001
            Structural disorder of heart   128599005
              Congenital heart disease   13213009
                Short stature with webbed neck and congenital heart disease syndrome   721073008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Clinical history and observation findings   250171008
      Finding of general physiological development   271616002
        Disorder of stature   237834000
          Short stature disorder   237836003
            Short stature with webbed neck and congenital heart disease syndrome   721073008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Cardiovascular finding   106063007
        Disorder of cardiovascular system   49601007
          Cardiovascular system hereditary disorder   363005004
            Short stature with webbed neck and congenital heart disease syndrome   721073008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Integumentary system finding   106077005
        Disorder of integument   128598002
          Hereditary disorder of the integument   363185004
            Short stature with webbed neck and congenital heart disease syndrome   721073008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Disorder of head   118934005
          Disorder of face   118930001
            Congenital anomaly of face   398302004
              Multiple malformation syndrome with facial defects as major feature   65094009
                Short stature with webbed neck and congenital heart disease syndrome   721073008

ancestors
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