Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome   763066009

SNOMED CT code


SNOMED code763066009
nameAtrioventricular septal defect, blepharophimosis, radial and anal defect syndrome
statusactive
date introduced2018-07-31
fully specified name(s)Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome (disorder)
synonyms
  • Houlston Ironton Temple syndrome
  • Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome
attributes - group2
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteUpper limb structure   53120007
attributes - group3
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteAnal structure   53505006
attributes - group4
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyNarrowed structure   25659002
Finding siteStructure of palpebral fissure   595000
attributes - group1
Finding siteStructure of atrioventricular septum   14692001
Pathological processPathological developmental process   308490002
Associated morphologyCongenital septal defect   396351009
OccurrenceCongenital   255399007
parents
  • Congenital anomaly of anus   11194003
  • Congenital abnormality of cardiac connection   253272009
  • Cardiovascular system hereditary disorder   363005004
  • Digestive system hereditary disorder   363080007
  • Hereditary disorder of the visual system   363343008
  • Multiple malformation syndrome with limb defect as major feature   41443008
  • Congenital septal defect of heart   59494005
  • Congenital anomaly of upper limb   66510004
  • Congenital anomaly of atrioventricular septum   737156006
  • Congenital abnormality of cardiac ventricle   773139006
  • Congenital abnormality of atrium   788533006
  • Autosomal recessive hereditary disorder   85995004
  • Congenital blepharophimosis   93040009
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Congenital abnormality of lower limb and pelvic girdle   253937004
          Congenital anomaly of lower trunk   363030001
            Congenital anomaly of perineum   126763008
              Congenital anomaly of anus   11194003
                Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome   763066009

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
                Congenital abnormality of cardiac connection   253272009
                  Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome   763066009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Cardiovascular finding   106063007
        Disorder of cardiovascular system   49601007
          Cardiovascular system hereditary disorder   363005004
            Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome   763066009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Digestive system finding   386617003
        Disorder of digestive system   53619000
          Digestive system hereditary disorder   363080007
            Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome   763066009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Eye / vision finding   118235002
        Visual system disorder   128127008
          Hereditary disorder of the visual system   363343008
            Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome   763066009

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 with limb defect as major feature   41443008
                Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome   763066009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital cardiovascular disorder   762228008
          Congenital septal defect of heart   59494005
            Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome   763066009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Disorder of extremity   128605003
          Congenital anomaly of limb   60475009
            Congenital anomaly of upper limb   66510004
              Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome   763066009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital cardiovascular disorder   762228008
          Congenital anomaly of atrioventricular septum   737156006
            Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome   763066009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Cardiovascular finding   106063007
        Cardiac finding   301095005
          Heart disease   56265001
            Disorder of cardiac ventricle   415991003
              Congenital abnormality of cardiac ventricle   773139006
                Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome   763066009

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
                Congenital anomaly of cardiac chamber   15964981000119104
                  Congenital abnormality of atrium   788533006
                    Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome   763066009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome   763066009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Eye / vision finding   118235002
        Eyelid finding   246812007
          Lesion of eyelid   301913002
            Narrowing of palpebral fissure   370116005
              Congenital blepharophimosis   93040009
                Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome   763066009

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