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
attributes - group4
InterpretsHeight / growth measure   271603002
attributes - group5
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group6
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Neck webbing   11731003
  • Congenital heart disease   13213009
  • Short stature disorder   237836003
  • Cardiovascular system hereditary disorder   363005004
  • Developmental hereditary disorder   363070008
  • 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
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Short stature with webbed neck and congenital heart disease syndrome   721073008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of neck   118939000
        Lesion of neck   298397000
          Neck webbing   11731003
            Short stature with webbed neck and congenital heart disease syndrome   721073008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    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
    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
    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
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Short stature with webbed neck and congenital heart disease syndrome   721073008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    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
    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
              Short stature with webbed neck and congenital heart disease syndrome   721073008

ancestors
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