Short stature with valvular heart disease and characteristic facies syndrome   716193004

SNOMED CT code


SNOMED code716193004
nameShort stature with valvular heart disease and characteristic facies syndrome
statusactive
date introduced2016-07-31
fully specified name(s)Short stature with valvular heart disease and characteristic facies syndrome (disorder)
synonymsShort stature with valvular heart disease and characteristic facies syndrome
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteCardiac valve structure   17401000
parents
  • Autosomal dominant hereditary disorder   11164009
  • Cardiovascular system hereditary disorder   363005004
  • Developmental hereditary disorder   363070008
  • Congenital anomaly of heart valve   70320004
  • Multiple malformation syndrome, moderate short stature, facial   77701002
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Short stature with valvular heart disease and characteristic facies syndrome   716193004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Disorder of cardiovascular system   49601007
        Cardiovascular system hereditary disorder   363005004
          Short stature with valvular heart disease and characteristic facies syndrome   716193004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Short stature with valvular heart disease and characteristic facies syndrome   716193004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Cardiac finding   301095005
        Heart valve finding   301098007
          Heart valve disorder   368009
            Congenital anomaly of heart valve   70320004
              Short stature with valvular heart disease and characteristic facies syndrome   716193004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Multiple malformation syndrome, moderate short stature, facial   77701002
                Short stature with valvular heart disease and characteristic facies syndrome   716193004

ancestors
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