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
attributes - group4
InterpretsHeight / growth measure   271603002
parents
  • Esotropia   16596007
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Short stature disorder   237836003
  • Congenital ptosis   268163008
  • Syndactyly of toes   32113001
  • Developmental hereditary disorder   363070008
  • 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
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Disorder of eye movements   45030009
          Strabismus   22066006
            Heterotropia   128602000
              Esotropia   16596007
                Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome   717914000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   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
    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
    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 of limb structure   302293008
      Disorder of limb   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
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome   717914000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    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
    Eye / vision finding   118235002
      Eyelid finding   246812007
        Palpebral fissure finding   386656009
          Narrowing of palpebral fissure   370116005
            Congenital blepharophimosis   93040009
              Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome   717914000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    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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