Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome   717914000

SNOMED CT code


SNOMED code717914000
nameBlepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
synonyms
  • Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
  • Frydman Cohen Karmon syndrome
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteStructure of palpebral fissure   595000
Associated morphologyNarrowed structure   25659002
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyCongenital abnormal fusion   37764001
Finding siteToe structure   29707007
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyProlapse   29696001
OccurrenceCongenital   255399007
Finding siteUpper eyelid structure   38934000
parents
  • Congenital esotropia   232093001
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Short stature disorder   237836003
  • Congenital ptosis   268163008
  • Syndactyly of toes   32113001
  • Hereditary disorder of the visual system   363343008
  • Autosomal recessive hereditary disorder   85995004
  • Congenital blepharophimosis   93040009
  • Congenital strabismus   95509009
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital esotropia   232093001
          Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome   717914000

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
            Multiple malformation syndrome with facial-limb defects as major feature   23359005
              Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome   717914000

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
            Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome   717914000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Eye / vision finding   118235002
        Eyelid finding   246812007
          Disorder of eyelid   60113004
            Ptosis of eyelid   11934000
              Congenital ptosis   268163008
                Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome   717914000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Disorder of extremity   128605003
          Disorder of digit   128597007
            Congenital anomaly of digit   403855001
              Syndactyly   373413006
                Syndactyly of toes   32113001
                  Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome   717914000

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
            Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome   717914000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome   717914000

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
                Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome   717914000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Eye / vision finding   118235002
        Visual system disorder   128127008
          Congenital anomaly of visual system   127329003
            Congenital strabismus   95509009
              Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome   717914000

ancestors
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